FN Thomson Reuters Web of Science™ VR 1.0 PT J AU Chang, IS Jiang, SS Yang, JCH Su, WC Chien, LH Hsiao, CF Lee, JH Chen, CY Chen, CH Chang, GC Wang, ZM Lo, FY Chen, KY Wang, WC Chen, YM Huang, MS Tsai, YH Su, YC Hsieh, WS Shih, WC Shieh, SH Yang, TY Lan, Q Rothman, N Chen, CJ Chanock, SJ Yang, PC Hsiung, CA AF Chang, I-Shou Jiang, Shih Sheng Yang, James Chih-Hsin Su, Wu-Chou Chien, Li-Hsin Hsiao, Chin-Fu Lee, Jih-Hsiang Chen, Chih-Yi Chen, Chung-Hsing Chang, Gee-Chen Wang, Zhaoming Lo, Fang-Yi Chen, Kuan-Yu Wang, Wen-Chang Chen, Yuh-Min Huang, Ming-Shyan Tsai, Ying-Huang Su, Yu-Chun Hsieh, Wan-Shan Shih, Wen-Chi Shieh, Shwn-Huey Yang, Tsung-Ying Lan, Qing Rothman, Nathaniel Chen, Chien-Jen Chanock, Stephen J. Yang, Pan-Chyr Hsiung, Chao A. TI Genetic Modifiers of Progression-Free Survival in Never-Smoking Lung Adenocarcinoma Patients Treated with First-Line Tyrosine Kinase Inhibitors SO AMERICAN JOURNAL OF RESPIRATORY AND CRITICAL CARE MEDICINE LA English DT Article DE lung neoplasms; molecular targeted therapy; never-smokers; genome-wide association study; single-nucleotide polymorphism ID RANDOMIZED PHASE-3 TRIAL; GENOME-WIDE ASSOCIATION; EGFR MUTATIONS; OPEN-LABEL; CANCER; GEFITINIB; CHEMOTHERAPY; ERLOTINIB; THERAPY; MULTICENTER AB Rationale: Patients with non-small cell lung cancer (NSCLC) with mutated epidermal growth factor receptor (EGFR) are relatively sensitive to EGFR-tyrosine kinase inhibitor (TKI) treatment and have longer progression-free survival (PFS) when treated with EGFR-TKI compared with platinum-based chemotherapy. However, many patients with advanced NSCLC who have mutated EGFR do not respond to first-line EGFR-TKI treatment and still have shorter PFS. Objectives: The aim of this study was to identify genetic variants associated with PFS among patients with lung adenocarcinoma who were treated with first-line EGFR-TKIs. Methods: A genome-wide association study on PFS was performed in never-smoking women diagnosed with lung adenocarcinoma and who were treated with first-line EGFR-TKIs (n = 128). Significant single-nucleotide polymorphisms (SNPs) were selected for follow-up association analysis (n = 198) and for replication assay in another independent cohort (n = 153). Measurements and Main Results: We identified SNPs at 4q12 associated with PFS at genome-wide significance (P < 10(-8)) and with an estimated hazard ratio of more than 4. This association was also replicated in a larger but similar cohort and in an independent NSCLC cohort. Follow-up functional analyses showed that these SNPs were associated with the expression of EGFR, which encodes the TKI target, and with a nearby gene neuromedin-U, which encodes a G protein-coupled receptor ligand known to be involved in the progression of NSCLC. Considering these as possible prognostic biomarkers for the treatment of patients with late-stage lung cancer, we found that these SNPs were not associated with EGFR mutation status or with polymorphism of the Bcl2-interacting mediator of cell death gene. Conclusions: Genetic variants in 4q12 merit further investigation to assess their potential as pharmacogenomic predictors for and to understand the biology underlying its influence on PFS in patients treated with TKI therapy. C1 [Chang, I-Shou; Jiang, Shih Sheng; Chen, Chung-Hsing] Natl Inst Canc Res, Zhunan, Taiwan. [Chien, Li-Hsin; Hsiao, Chin-Fu; Lo, Fang-Yi; Wang, Wen-Chang; Su, Yu-Chun; Hsieh, Wan-Shan; Shih, Wen-Chi; Hsiung, Chao A.] Natl Hlth Res Inst, Inst Populat Hlth Sci, 35 Keyan Rd, Zuhan 35053, Taiwan. [Hsiao, Chin-Fu] Natl Hlth Res Inst, Taiwan Lung Canc Tissue Specimen Informat Resourc, Zhunan, Taiwan. [Yang, James Chih-Hsin; Lee, Jih-Hsiang] Natl Taiwan Univ, Natl Taiwan Univ Hosp, Dept Oncol, Taipei, Taiwan. [Yang, Pan-Chyr] Natl Taiwan Univ, Natl Taiwan Univ Hosp, Dept Internal Med, Taipei, Taiwan. [Yang, James Chih-Hsin; Chen, Kuan-Yu; Yang, Pan-Chyr] Natl Taiwan Univ, Coll Med, Taipei, Taiwan. [Yang, James Chih-Hsin] Natl Taiwan Univ, Natl Cheng Kung Univ Hosp, Grant Inst Oncol, Taipei, Taiwan. [Yang, James Chih-Hsin] Natl Taiwan Univ, Natl Cheng Kung Univ Hosp, Canc Res Ctr, Coll Med, Taipei, Taiwan. [Chen, Kuan-Yu] Natl Taiwan Univ, Natl Cheng Kung Univ Hosp, Dept Internal Med, Div Pulm Med, Taipei, Taiwan. [Su, Wu-Chou] Natl Cheng Kung Univ, Natl Cheng Kung Univ Hosp, Coll Med, Dept Internal Med, Tainan, Taiwan. [Chen, Chih-Yi] Chung Shan Med Univ Hosp, Inst Med, Taichung, Taiwan. [Hsiao, Chin-Fu] Chung Shan Med Univ Hosp, Dept Surg, Div Thorac Surg, Taichung, Taiwan. [Chang, Gee-Chen] Natl Yang Ming Univ, Fac Med, Sch Med, Taipei, Taiwan. [Chang, Gee-Chen; Yang, Tsung-Ying] Taichung Vet Gen Hosp, Dept Internal Med, Div Chest Med, Taichung, Taiwan. [Wang, Zhaoming] NCI, Canc Genom Res Lab, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Lan, Qing; Rothman, Nathaniel; Chanock, Stephen J.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Wang, Wen-Chang] Taipei Med Univ, Coll Med Sci & Technol, Ph D Program Translat Med, Taipei, Taiwan. [Chen, Yuh-Min] Taipei Med Univ, Coll Med Sci & Technol, Taipei, Taiwan. [Chen, Yuh-Min] Taipei Vet Gen Hosp, Dept Chest Med, Taipei, Taiwan. [Huang, Ming-Shyan] Kaohsiung Med Univ, Kaohsiung Med Univ Hosp, Sch Med, Dept Internal Med, Kaohsiung, Taiwan. [Tsai, Ying-Huang] Chiayi Chang Gung Mem Hosp, Div Pulm & Crit Care Med, Chiayi, Taiwan. [Shieh, Shwn-Huey] China Med Univ, Dept Hlth Serv Adm, Taichung, Taiwan. [Shieh, Shwn-Huey] China Med Univ, Dept Nursing, Taichung, Taiwan. [Chen, Chien-Jen] Acad Sinica, Gen Res Ctr, Taipei, Taiwan. RP Hsiung, CA (reprint author), Natl Hlth Res Inst, Inst Populat Hlth Sci, 35 Keyan Rd, Zuhan 35053, Taiwan. EM hsiung@nhri.org.tw NR 31 TC 0 Z9 0 U1 1 U2 1 PU AMER THORACIC SOC PI NEW YORK PA 25 BROADWAY, 18 FL, NEW YORK, NY 10004 USA SN 1073-449X EI 1535-4970 J9 AM J RESP CRIT CARE JI Am. J. Respir. Crit. Care Med. PD MAR 1 PY 2017 VL 195 IS 5 BP 663 EP 673 DI 10.1164/rccm.201602-0300OC PG 11 WC Critical Care Medicine; Respiratory System SC General & Internal Medicine; Respiratory System GA EM5ND UT WOS:000395357400016 PM 27669169 ER PT J AU Taubert, J Weldon, KB Parr, LA AF Taubert, Jessica Weldon, Kimberly B. Parr, Lisa A. TI Robust representations of individual faces in chimpanzees (Pan troglodytes) but not monkeys (Macaca mulatta) SO ANIMAL COGNITION LA English DT Article DE Face recognition; Face perception; Chimpanzees; Rhesus monkeys; Familiarity; Image averaging ID SPLIT-BRAIN MONKEYS; UNFAMILIAR FACES; HEMISPHERIC-SPECIALIZATION; NONHUMAN-PRIMATES; SELECTIVE REGIONS; MATCHING TASK; RECOGNITION; FAMILIAR; PERCEPTION; VIEWPOINT AB Being able to recognize the faces of our friends and family members no matter where we see them represents a substantial challenge for the visual system because the retinal image of a face can be degraded by both changes in the person (age, expression, pose, hairstyle, etc.) and changes in the viewing conditions (direction and degree of illumination). Yet most of us are able to recognize familiar people effortlessly. A popular theory for how face recognition is achieved has argued that the brain stabilizes facial appearance by building average representations that enhance diagnostic features that reliably vary between people while diluting features that vary between instances of the same person. This explains why people find it easier to recognize average images of people, created by averaging multiple images of the same person together, than single instances (i.e. photographs). Although this theory is gathering momentum in the psychological and computer sciences, there is no evidence of whether this mechanism represents a unique specialization for individual recognition in humans. Here we tested two species, chimpanzees (Pan troglodytes) and rhesus monkeys (Macaca mulatta), to determine whether average images of different familiar individuals were easier to discriminate than photographs of familiar individuals. Using a two-alternative forced-choice, match-to-sample procedure, we report a behaviour response profile that suggests chimpanzees encode the faces of conspecifics differently than rhesus monkeys and in a manner similar to humans. C1 [Taubert, Jessica; Weldon, Kimberly B.; Parr, Lisa A.] Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA 30329 USA. [Taubert, Jessica] NIMH, Bethesda, MD 20814 USA. [Parr, Lisa A.] Emory Univ, Div Psychiat & Behav Sci, Atlanta, GA 30322 USA. RP Taubert, J (reprint author), Emory Univ, Yerkes Natl Primate Res Ctr, Atlanta, GA 30329 USA.; Taubert, J (reprint author), NIMH, Bethesda, MD 20814 USA. EM jesstaubert@gmail.com FU NIH/NCRR [RR-00165, R01-MH068791] FX This investigation was supported by RR-00165 from the NIH/NCRR to the Yerkes National Primate Research Center and R01-MH068791 to L.A. Parr. NR 68 TC 0 Z9 0 U1 5 U2 5 PU SPRINGER HEIDELBERG PI HEIDELBERG PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY SN 1435-9448 EI 1435-9456 J9 ANIM COGN JI Anim. Cogn. PD MAR PY 2017 VL 20 IS 2 BP 321 EP 329 DI 10.1007/s10071-016-1054-6 PG 9 WC Behavioral Sciences; Zoology SC Behavioral Sciences; Zoology GA EL0LH UT WOS:000394313400018 PM 27864643 ER PT J AU Parsons, C Lee, S Jayeola, V Kathariou, S AF Parsons, Cameron Lee, Sangmi Jayeola, Victor Kathariou, Sophia TI Novel Cadmium Resistance Determinant in Listeria monocytogenes SO APPLIED AND ENVIRONMENTAL MICROBIOLOGY LA English DT Article DE Listeria monocytogenes; cadmium resistance; cadA; biofilm; virulence ID ESCHERICHIA-COLI O157-H7; PLASMID-BORNE CADMIUM; SEROTYPE 4B; GENETIC-CHARACTERIZATION; BENZALKONIUM CHLORIDE; UNITED-STATES; STRAINS; GENOME; OUTBREAK; SUSCEPTIBILITY AB Listeria monocytogenes is a foodborne pathogen that can cause severe disease (listeriosis) in susceptible individuals. It is ubiquitous in the environment and often exhibits resistance to heavy metals. One of the determinants that enables Listeria to tolerate exposure to cadmium is the cadAC efflux system, with CadA being a P-type ATPase. Three different cadA genes (designated cadA1 to cadA3) were previously characterized in L. monocytogenes. A novel putative cadmium resistance gene (cadA4) was recently identified through whole-genome sequencing, but experimental confirmation for its involvement in cadmium resistance is lacking. In this study, we characterized cadA4 in L. monocytogenes strain F8027, a cadmium-resistant strain of serotype 4b. By screening a mariner-based transposon library of this strain, we identified a mutant with reduced tolerance to cadmium and that harbored a single transposon insertion in cadA4. The tolerance to cadmium was restored by genetic complementation with the cadmium resistance cassette (cadA4C), and enhanced cadmium tolerance was conferred to two unrelated cadmium-sensitive strains via heterologous complementation with cadA4C. Cadmium exposure induced cadA4 expression, even at noninhibitory levels. Virulence assessments in the Galleria mellonella model suggested that a functional cadA4 suppressed virulence, potentially promoting commensal colonization of the insect larvae. Biofilm assays suggested that cadA4 inactivation reduced biofilm formation. These data not only confirm cadA4 as a novel cadmium resistance determinant in L. monocytogenes but also provide evidence for roles in virulence and biofilm formation. IMPORTANCE Listeria monocytogenes is an intracellular foodborne pathogen causing the disease listeriosis, which is responsible for numerous hospitalizations and deaths every year. Among the adaptations that enable the survival of Listeria in the environment are the abilities to persist in biofilms, grow in the cold, and tolerate toxic compounds, such as heavy metals. Here, we characterized a novel determinant that was recently identified on a larger mobile genetic island through whole-genome sequencing. This gene (cadA4) was found to be responsible for cadmium detoxification and to be a divergent member of the Cad family of cadmium efflux pumps. Virulence assessments in a Galleria mellonella model suggested that cadA4 may suppress virulence. Additionally, cadA4 may be involved in the ability of Listeria to form biofilms. Beyond the role in cadmium detoxification, the involvement of cadA4 in other cellular functions potentially explains its retention and wide distribution in L. monocytogenes. C1 [Parsons, Cameron; Lee, Sangmi; Jayeola, Victor; Kathariou, Sophia] North Carolina State Univ, Dept Food Bioproc & Nutr Sci, Raleigh, NC 27695 USA. [Lee, Sangmi] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Kathariou, S (reprint author), North Carolina State Univ, Dept Food Bioproc & Nutr Sci, Raleigh, NC 27695 USA. EM sophia_kathariou@ncsu.edu FU USDA [2011-2012-67017-30218] FX This study was partially funded by a USDA grant (no. 2011-2012-67017-30218). NR 45 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 0099-2240 EI 1098-5336 J9 APPL ENVIRON MICROB JI Appl. Environ. Microbiol. PD MAR PY 2017 VL 85 IS 4 AR UNSP e02580 DI 10.1128/AEM.02580-16 PG 16 WC Biotechnology & Applied Microbiology; Microbiology SC Biotechnology & Applied Microbiology; Microbiology GA EK5JK UT WOS:000393962500005 ER PT J AU Withisuphakorn, P Jiraporn, P AF Withisuphakorn, Pradit Jiraporn, Pornsit TI Co-opted directors and powerful CEOs: evidence from the CEO pay slice (CPS) SO APPLIED ECONOMICS LETTERS LA English DT Article DE Co-opted directors; co-option; CEO power; powerful CEOs; corporate governance; G30; G34 AB We explore the effect of co-opted directors on chief executive officer (CEO) power. Co-opted directors are those appointed after the incumbent CEO assumes office and are found by prior research to represent a weakened governance mechanism. Our evidence reveals that co-opted directors lead to less powerful CEOs, consistent with the substitution effect. Because co-opted directors impose less stringent oversight, the CEO is able to exercise a great deal of latitude in running the firm. Therefore, it is less necessary for the CEO to command so much power where more directors are co-opted, hence leading to less powerful CEOs. In other words, co-opted directors substitute for strong CEO power. Crucially, we find that board co-option exhibits much more explanatory power than does board independence, which has been the primary measure of board effectiveness in the literature. C1 [Withisuphakorn, Pradit] NIDA, Bangkok, Thailand. [Jiraporn, Pornsit] Penn State Univ, SGPS, Malvern, PA USA. RP Jiraporn, P (reprint author), Penn State Univ, SGPS, Malvern, PA USA. EM pxj11@psu.edu NR 6 TC 0 Z9 0 U1 0 U2 0 PU ROUTLEDGE JOURNALS, TAYLOR & FRANCIS LTD PI ABINGDON PA 2-4 PARK SQUARE, MILTON PARK, ABINGDON OX14 4RN, OXON, ENGLAND SN 1350-4851 EI 1466-4291 J9 APPL ECON LETT JI Appl. Econ. Lett. PD MAR PY 2017 VL 24 IS 6 BP 381 EP 386 DI 10.1080/13504851.2016.1194960 PG 6 WC Economics SC Business & Economics GA EK1QC UT WOS:000393699600006 ER PT J AU You, L Xie, RQ Hu, HJ Gu, GQ Zheng, HM Zhang, JD Yang, XH He, XM Cui, W AF You, Ling Xie, Ruiqin Hu, Haijuan Gu, Guoqiang Zheng, Hongmei Zhang, Jidong Yang, Xiaohong He, Ximiao Cui, Wei TI High levels of serum beta 2-microglobulin predict severity of coronary artery disease SO BMC CARDIOVASCULAR DISORDERS LA English DT Article DE beta 2-Microglobulin; Severity; Coronary artery disease ID C-REACTIVE PROTEIN; ACUTE MYOCARDIAL-INFARCTION; GLOMERULAR-FILTRATION-RATE; CHRONIC STABLE ANGINA; CYSTATIN-C; PROGNOSTIC VALUE; HEART-DISEASE; NATRIURETIC PEPTIDE; GENERAL-POPULATION; MULTIPLE-MYELOMA AB Background: The identification of new risk factors for coronary artery disease (CAD) is increasingly sought in an effort to tackle this threatening disease. beta 2-microglobulin (B2M) is reported to associate with peripheral arterial disease and adverse cardiovascular outcomes. However, the association between B2M and cardiovascular disease remains under-researched. This study evaluated the effects of B2M on CAD without renal dysfunction. Methods: One thousand seven hundred sixty-two subjects (403 non-CAD subjects and 1,359 CAD subjects) were investigated. Fasting samples were collected to determine B2M level. The Gensini and SYNTAX scores were used to assess the severity of CAD. Results: CAD subjects were significantly higher in serum B2M level comparing with non-CAD subjects (1.25 +/- 0.46 vs 1.14 +/- 0.28 mg/L, p < 0.001). Serum B2M level was a risk factor of CAD after adjusting potential confounders (Odds Ratio (OR) = 2.363, 95% confidence interval (CI): 1.467-3.906, p = 0.001). Receiver operating characteristics (ROC) showed B2M level moderately predicted diagnosis of CAD (the area under the ROC curve (AUC) = 0.608, 95% CI: 0.577-0.639, p < 0.001). Furthermore, serum B2M level was positively associated with Gensini score system, SYNTAX score system and the number of disease vessels (NDV >= 2). Conclusions: The significant association between serum B2M and CAD suggests that B2M could be a biomarker for CAD. C1 [He, Ximiao] NCI, Lab Metab, NIH, 37 Convent Dr, Bethesda, MD 20892 USA. [You, Ling; Xie, Ruiqin; Hu, Haijuan; Gu, Guoqiang; Zheng, Hongmei; Zhang, Jidong; Yang, Xiaohong; Cui, Wei] Hebei Med Univ, Hosp 2, Div Cardiol, 215 Heping West Rd, Shijiazhuang 050000, Hebei, Peoples R China. RP He, XM (reprint author), NCI, Lab Metab, NIH, 37 Convent Dr, Bethesda, MD 20892 USA.; Cui, W (reprint author), Hebei Med Univ, Hosp 2, Div Cardiol, 215 Heping West Rd, Shijiazhuang 050000, Hebei, Peoples R China. EM Ximiao.He@gmail.com; cuiwei@medmail.com.cn FU Science and technology project of Hebei Province [15277715D]; key project of medical science research in Hebei Province [20150208] FX This work was generously supported by grants from the Science and technology project of Hebei Province (Grant No. 15277715D to Ling You) and grants from the key project of medical science research in Hebei Province in 2015 (Grant No. 20150208 to Ling You). NR 44 TC 0 Z9 0 U1 2 U2 2 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2261 J9 BMC CARDIOVASC DISOR JI BMC Cardiovasc. Disord. PD MAR 1 PY 2017 VL 17 AR 71 DI 10.1186/s12872-017-0502-9 PG 8 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EM7DH UT WOS:000395471200001 PM 28249620 ER PT J AU Remaley, AT AF Remaley, Alan T. TI Undetectable HDL Cholesterol in a Patient with Flu-Like Illness SO CLINICAL CHEMISTRY LA English DT Editorial Material C1 [Remaley, Alan T.] NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. RP Remaley, AT (reprint author), NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. EM aremaley1@nhlbi.nih.gov NR 0 TC 0 Z9 0 U1 0 U2 0 PU AMER ASSOC CLINICAL CHEMISTRY PI WASHINGTON PA 2101 L STREET NW, SUITE 202, WASHINGTON, DC 20037-1526 USA SN 0009-9147 EI 1530-8561 J9 CLIN CHEM JI Clin. Chem. PD MAR PY 2017 VL 63 IS 3 BP 645 EP 645 DI 10.1373/clinchem.2016.263541 PG 1 WC Medical Laboratory Technology SC Medical Laboratory Technology GA EL6LU UT WOS:000394734900005 PM 28242832 ER PT J AU Newmeyer, MN Swortwood, MJ Andersson, M Abulseoud, OA Scheidweiler, KB Huestis, MA AF Newmeyer, Matthew N. Swortwood, Madeleine J. Andersson, Maria Abulseoud, Osama A. Scheidweiler, Karl B. Huestis, Marilyn A. TI Cannabis Edibles: Blood and Oral Fluid Cannabinoid Pharmacokinetics and Evaluation of Oral Fluid Screening Devices for Predicting Delta(9)-Tetrahydrocannabinol in Blood and Oral Fluid following Cannabis Brownie Administration SO CLINICAL CHEMISTRY LA English DT Article ID CONTROLLED SMOKED CANNABIS; TANDEM MASS-SPECTROMETRY; WHOLE-BLOOD; DELTA-9-TETRAHYDROCANNABINOL CONCENTRATIONS; TESTING DEVICES; PLASMA; DRUGS; DISPOSITION; DRIVERS; THC AB BACKGROUND: Roadside oral fluid (OF) Delta(9)-tetrahycirocannabinol (THC) detection indicates recent cannabis intake. OF and blood THC pharmacokinetic data are limited and there are no on-site OF screening performance evaluations after controlled edible cannabis. CONTENT: We reviewed OF and blood cannabinoid pharmacokinetics and performance evaluations of theDraeger DrugTest (R) 5000 (DT5000) and Alere (TM) DDS (R) 2 (DDS2) on -site OF screening devices. We also present data from a controlled oral cannabis administration session. SUMMARY: OF THC maximum concentrations (C-max) were similar in freqUent as compared to occasional smokers, while blood THC C-max were higher in frequent [mean (range) 17.7 (8.0-36.1) mu g/L] smokers compared to occasional [8.2 (3.2-14.3) mu g/L] smokers. Minor cannabinoids Delta(9)-tetrahydrocannabivarin "and cannabigerol were never detected in blood, and not in OF by 5 or 8 h, respectively, with 0.3 mu g/L cutoffs. Recommended performance (analytical sensitivity, specificity, and efficiency) criteria for screening devices of >= 80% are difficult to meet when maximizing true positive (TP) results with confirmation cutoffs below the screening cutoff. TPs were greatest with OF confirmation cutoffs of THC >= 1 and >= 2 mu g/L, but analytical sensitivities were <80% due to false negative tests arising from confirmation cutoffs below the DT5000 and DDS2 screening cutoffs; all criteria were >80% with an OF THC >= mu g/L cutoff. Per- formance criteria also were >80% with a blood THC >= 5 mu g/L confirmation cutoff; however, positive OF screening results might not confirm due to the time required to collect blood after a crash or police stop. OF confirmation is recommended for roadside OF screening. (C) 2016 American Association for Clinical Chemistry C1 [Newmeyer, Matthew N.; Swortwood, Madeleine J.; Andersson, Maria; Abulseoud, Osama A.; Scheidweiler, Karl B.; Huestis, Marilyn A.] NIDA, Chem & Drug Metab Sect, Intramural Res Program, NIH, Bethesda, MD 20892 USA. [Newmeyer, Matthew N.] Univ Maryland, Toxicol Program, Baltimore, MD 21201 USA. [Swortwood, Madeleine J.] Sam Houston State Univ, Dept Forens Sci, Coll Criminal Justice, Huntsville, TX 77340 USA. [Andersson, Maria] Karolinska Inst, Div Clin Pharmacol, Dept Lab Med, Stockholm, Sweden. [Andersson, Maria] Univ Hosp, Stockholm, Sweden. [Huestis, Marilyn A.] Univ Maryland, Sch Med, Baltimore, MD 21201 USA. RP Huestis, MA (reprint author), Univ Maryland, Sch Med, 683 Shore Rd, Severna Pk, MD 21146 USA. EM marilyn.huestis@gmail.com FU Intramural Research Program, National Institute on Drug Abuse, NIH; Graduate Partnership Program, NIH FX M.N. Newmeyer, Intramural Research Program, National Institute on Drug Abuse, NIH (to the institution); and Graduate Partnership Program, NIH; M.A. Huestis, Quantisal, DT5000, and DDS2 devices provided by the manufacturer to NIH through a Materials Transfer Agreement; and Intramural Research Program, National Institute on Drug Abuse, NIH (to the institution). NR 59 TC 1 Z9 1 U1 5 U2 5 PU AMER ASSOC CLINICAL CHEMISTRY PI WASHINGTON PA 2101 L STREET NW, SUITE 202, WASHINGTON, DC 20037-1526 USA SN 0009-9147 EI 1530-8561 J9 CLIN CHEM JI Clin. Chem. PD MAR PY 2017 VL 63 IS 3 BP 647 EP 662 DI 10.1373/clinchem.2016.265371 PG 16 WC Medical Laboratory Technology SC Medical Laboratory Technology GA EL6LU UT WOS:000394734900007 PM 28188235 ER PT J AU Illuzzi, JL McNeill, DR Bastian, P Brenerman, B Wersto, R Russell, HR Bunz, F McKinnon, PJ Becker, KG Wilson, DM AF Illuzzi, Jennifer L. McNeill, Daniel R. Bastian, Paul Brenerman, Boris Wersto, Robert Russell, Helen R. Bunz, Fred McKinnon, Peter J. Becker, Kevin G. Wilson, David M., III TI Tumor-Associated APE1 Variant Exhibits Reduced Complementation Efficiency But Does Not Promote Cancer Cell Phenotypes SO ENVIRONMENTAL AND MOLECULAR MUTAGENESIS LA English DT Article DE APE1/APEX1; haploinsufficiency; base excision repair; transformation; cancer susceptibility ID APURINIC/APYRIMIDINIC ENDONUCLEASE; ABASIC ENDONUCLEASE; OXIDATIVE STRESS; REPAIR; DNA; PROTEIN; MOUSE; DAMAGE; REF-1; MICE AB Base excision repair (BER) is the major pathway for coping with most forms of endogenous DNA damage, and defects in the process have been associated with carcinogenesis. Apurinic/apyrimidinic endonuclease 1 (APE1) is a central participant in BER, functioning as a critical endonuclease in the processing of noncoding abasic sites in DNA. Evidence has suggested that APE1 missense mutants, as well as altered expression or localization of the protein, can contribute to disease manifestation. We report herein that the tumor-associated APE1 variant, R237C, shows reduced complementation efficiency of the methyl methanesulfonate hypersensitivity and impaired cell growth exhibited by APE1-deficient mouse embryonic fibroblasts. Overexpression of wild-type APE1 or the R237C variant in the nontransformed C127I mouse cell line had no effect on proliferation, cell cycle status, steady-state DNA damage levels, mitochondrial function, or cellular transformation. A human cell line heterozygous for an APE1 knockout allele had lower levels of endogenous APE1, increased cellular sensitivity to DNA-damaging agents, impaired proliferation with time, and a distinct global gene expression pattern consistent with a stress phenotype. Our results indicate that: (i) the tumor-associated R237C variant is a possible susceptibility factor, but not likely a driver of cancer cell phenotypes, (ii) overexpression of APE1 does not readily promote cellular transformation, and (iii) haploinsufficiency at the APE1 locus can have profound cellular consequences, consistent with BER playing a critical role in proliferating cells. (C) 2017 Wiley Periodicals, Inc. C1 [Illuzzi, Jennifer L.; McNeill, Daniel R.; Brenerman, Boris; Wilson, David M., III] NIA, Lab Mol Gerontol, Intramural Res Program, NIH, Baltimore, MD 21224 USA. [Bastian, Paul; Becker, Kevin G.] NIA, Lab Genet, Intramural Res Program, NIH, Baltimore, MD 21224 USA. [Wersto, Robert] NIA, Flow Cytometry Unit, Intramural Res Program, NIH, Baltimore, MD 21224 USA. [Russell, Helen R.; McKinnon, Peter J.] St Jude Childrens Res Hosp, Genet Dept, 332 N Lauderdale St, Memphis, TN 38105 USA. [Bunz, Fred] Johns Hopkins Univ, Sch Med, Dept Radiat Oncol & Mol Radiat Sci, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD USA. RP Wilson, DM (reprint author), NIA, Lab Mol Gerontol, Intramural Res Program, NIH, Baltimore, MD 21224 USA. EM wilsonda@mail.nih.gov FU Intramural Research Program at the NIH, National Institute on Aging; NIH [NS-37956, CA-21765, CA-157535, CA-158428]; American Lebanese and Syrian Associated Charities of St. Jude Children's Research Hospital FX Grant sponsor: Intramural Research Program at the NIH, National Institute on Aging.; Grant sponsor: NIH; Grant numbers: NS-37956 and CA-21765 (to P.J.M.), and CA-157535 and CA-158428 (to F.B.).; Grant sponsor: American Lebanese and Syrian Associated Charities of St. Jude Children's Research Hospital (to P.J.M.). NR 40 TC 0 Z9 0 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0893-6692 EI 1098-2280 J9 ENVIRON MOL MUTAGEN JI Environ. Mol. Mutagen. PD MAR PY 2017 VL 58 IS 2 BP 84 EP 98 DI 10.1002/em.22074 PG 15 WC Environmental Sciences; Genetics & Heredity; Toxicology SC Environmental Sciences & Ecology; Genetics & Heredity; Toxicology GA EL5SR UT WOS:000394681700003 PM 28181292 ER PT J AU Schisterman, EF Swanson, CW Lu, YL Mumford, SL AF Schisterman, Enrique F. Swanson, Chandra W. Lu, Ya-Ling Mumford, Sunni L. TI The Changing Face of Epidemiology Gender Disparities in Citations? SO EPIDEMIOLOGY LA English DT Article ID MEDICAL SUBJECT-HEADINGS; RESEARCH PERFORMANCE; ACADEMIC POSITION; LIFE SCIENCES; TEXT-WORD; IMPACT; PRODUCTIVITY; SUCCESS; INDIVIDUALS; JOURNALS AB Background: Female biomedical scientists tend to publish fewer articles as last author than their male colleagues and accrue fewer citations per publication. We seek to understand whether epidemiology follows this pattern. Methods: We gathered aggregate information on the current gender distribution of epidemiology departments (n = 29 of 71 surveyed), societies (n = 4 of 8), and journal editorial boards (n = 6 of 6) using two online surveys and publicly available online information. Bibliometric data from 4,149 articles published between 2008 and 2012 in six high-impact epidemiology journals were drawn from Web of Science and PubMed. Results: We observed a higher prevalence of female than male doctoral students and epidemiology faculty, particularly at lower faculty ranks. A total of 54% of society members were female. Among editorial boards, all current and emeritus editors-in-chief were male and board membership was largely male (64%). Females were more likely to be first authors, but less likely to be last authors. There were no differences in accrued citations at the 50th percentile by first or last author gender. However, articles with male first and last authors tend to accrue more citations (5.7 citations, 95% CI: 2.1, 9.4), mostly driven by the most highly cited articles. This disparity is not fully explained by potential confounders, including seniority. Conclusions: We found a greater number of female epidemiologists in early-career positions and further evidence of potential gender disparity in publication metrics in epidemiology. If epidemiology continues to be practiced by a majority of women, it remains to be seen if these patterns will change over time. C1 [Schisterman, Enrique F.; Swanson, Chandra W.; Lu, Ya-Ling; Mumford, Sunni L.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, 6710B Rockledge Dr MSC 7004, Bethesda, MD 20892 USA. [Lu, Ya-Ling] NIH, NIH Lib, Bldg 10, Bethesda, MD 20892 USA. RP Schisterman, EF (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, 6710B Rockledge Dr MSC 7004, Bethesda, MD 20892 USA. EM schistee@mail.nih.gov OI Schisterman, Enrique/0000-0003-3757-641X FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health FX This study was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health. NR 36 TC 0 Z9 0 U1 3 U2 3 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1044-3983 EI 1531-5487 J9 EPIDEMIOLOGY JI Epidemiology PD MAR PY 2017 VL 28 IS 2 BP 159 EP 168 DI 10.1097/EDE.0000000000000593 PG 10 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EK5IB UT WOS:000393959000011 PM 27930394 ER PT J AU Olsson, AC Vermeulen, R Schuz, J Kromhout, H Pesch, B Peters, S Behrens, T Portengen, L Mirabelli, D Gustavsson, P Kendzia, B Almansa, J Luzon, V Vlaanderen, J Stucker, I Guida, F Consonni, D Caporaso, N Landi, MT Field, J Bruske, I Wichmann, HE Siemiatycki, J Parent, ME Richiardi, L Merletti, F Jockel, KH Ahrens, W Pohlabeln, H Plato, N Tardon, A Zaridze, D McLaughlin, J Demers, P Szeszenia-Dabrowska, N Lissowska, J Rudnai, P Fabianova, E Dumitru, RS Bencko, V Foretova, L Janout, V Boffetta, P Bueno-De-Mesquita, B Forastiere, F Bruning, T Straif, K AF Olsson, Ann C. Vermeulen, Roel Schuz, Joachim Kromhout, Hans Pesch, Beate Peters, Susan Behrens, Thomas Portengen, Lutzen Mirabelli, Dario Gustavsson, Per Kendzia, Benjamin Almansa, Josue Luzon, Veronique Vlaanderen, Jelle Stucker, Isabelle Guida, Florence Consonni, Dario Caporaso, Neil Landi, Maria Teresa Field, John Brueske, Irene Wichmann, Heinz-Erich Siemiatycki, Jack Parent, Marie-Elise Richiardi, Lorenzo Merletti, Franco Joeckel, Karl-Heinz Ahrens, Wolfgang Pohlabeln, Hermann Plato, Nils Tardon, Adonina Zaridze, David McLaughlin, John Demers, Paul Szeszenia-Dabrowska, Neonila Lissowska, Jolanta Rudnai, Peter Fabianova, Eleonora Dumitru, Rodica Stanescu Bencko, Vladimir Foretova, Lenka Janout, Vladimir Boffetta, Paolo Bueno-de-Mesquita, Bas Forastiere, Francesco Bruening, Thomas Straif, Kurt TI Exposure-Response Analyses of Asbestos and Lung Cancer Subtypes in a Pooled Analysis of Case-Control Studies SO EPIDEMIOLOGY LA English DT Article ID MADE VITREOUS FIBERS; OCCUPATIONAL-EXPOSURE; CASE-REFERENT; SYN-JEM; RISK; SMOKING; EUROPE; METAANALYSIS; CARCINOGENS; MATRIX AB Background: Evidence is limited regarding risk and the shape of the exposure-response curve at low asbestos exposure levels. We estimated the exposure-response for occupational asbestos exposure and assessed the joint effect of asbestos exposure and smoking by sex and lung cancer subtype in general population studies. Methods: We pooled 14 case-control studies conducted in 19852010 in Europe and Canada, including 17,705 lung cancer cases and 21,813 controls with detailed information on tobacco habits and lifetime occupations. We developed a quantitative job-exposure-matrix to estimate job-, time period-, and region-specific exposure levels. Fiber-years (ff/ml-years) were calculated for each subject by linking the matrix with individual occupational histories. We fit unconditional logistic regression models to estimate odds ratios (ORs), 95% confidence intervals (CIs), and trends. Results: The fully adjusted OR for ever-exposure to asbestos was 1.24 (95% CI, 1.18, 1.31) in men and 1.12 (95% CI, 0.95, 1.31) in women. In men, increasing lung cancer risk was observed with increasing exposure in all smoking categories and for all three major lung cancer subtypes. In women, lung cancer risk for all subtypes was increased in current smokers (ORs similar to two-fold). The joint effect of asbestos exposure and smoking did not deviate from multiplicativity among men, and was more than additive among women. Conclusions: Our results in men showed an excess risk of lung cancer and its subtypes at low cumulative exposure levels, with a steeper exposure-response slope in this exposure range than at higher, previously studied levels. (See video abstract at, http://links.lww.com/EDE/B161.) C1 [Olsson, Ann C.; Schuz, Joachim; Luzon, Veronique; Vlaanderen, Jelle; Straif, Kurt] Int Agcy Res Canc, Lyon, France. [Olsson, Ann C.; Gustavsson, Per; Plato, Nils] Karolinska Inst, Inst Environm Med, Stockholm, Sweden. [Vermeulen, Roel; Kromhout, Hans; Peters, Susan; Portengen, Lutzen; Almansa, Josue; Vlaanderen, Jelle] Inst Risk Assessment Sci, Utrecht, Netherlands. [Pesch, Beate; Behrens, Thomas; Kendzia, Benjamin; Bruening, Thomas] Ruhr Univ Bochum IPA, Inst Prevent & Occupat Med, German Social Accid Insurance Inst, Bochum, Germany. [Peters, Susan] Univ Western Australia, Sch Populat Hlth, Occupat Resp Epidemiol, Perth, WA, Australia. [Richiardi, Lorenzo; Merletti, Franco] Univ Turin, Dept Med Sci, Canc Epidemiol Unit, Turin, Italy. [Richiardi, Lorenzo; Merletti, Franco] CPO Piemonte, Turin, Italy. [Stucker, Isabelle; Guida, Florence] INSERM, Ctr Res Epidemiol & Populat Hlth CESP, Environm Epidemiol Canc Team, U1018, Villejuif, France. [Stucker, Isabelle; Guida, Florence] Univ Paris Sud, UMRS 1018, Villejuif, France. [Consonni, Dario] Osped Maggiore Policlin, Fdn IRCS Ca Granda, Epidemiol Unit, Milan, Italy. [Caporaso, Neil; Landi, Maria Teresa] NCI, Bethesda, MD 20892 USA. [Field, John] Univ Liverpool, Inst Translat Med, Dept Mol & Clin Canc Med, Roy Castle Lung Canc Res Programme,Canc Res Ctr, Liverpool, Merseyside, England. [Brueske, Irene; Wichmann, Heinz-Erich] Deutsch Forschungszentrum Gesundheit & Umwelt, Inst Epidemiol, Neuherberg, Germany. [Siemiatycki, Jack] Univ Montreal, Hosp Res Ctr CRCHUM, Montreal, PQ, Canada. [Parent, Marie-Elise] Univ Quebec, Inst Armand Frappier, INRS, Laval, PQ, Canada. [Joeckel, Karl-Heinz] Univ Duisburg Essen, Inst Med Informat Biometry & Epidemiol, Essen, Germany. [Ahrens, Wolfgang; Pohlabeln, Hermann] BIPS, Leibniz Inst Prevent Res & Epidemiol, Bremen, Germany. [Tardon, Adonina] Univ Oviedo, Biomed Res Ctr, Network Epidemiol & Publ Hlth CIBERESP, Oviedo, Spain. [Zaridze, David] Russian Canc Res Ctr, Moscow, Russia. [McLaughlin, John] Publ Hlth Ontario, Toronto, ON, Canada. [Demers, Paul] Canc Care Ontario, Occupat Canc Res Ctr, Toronto, ON, Canada. [Szeszenia-Dabrowska, Neonila] Nofer Inst Occupat Med, Lodz, Poland. [Lissowska, Jolanta] M Sklodowska Curie Canc Ctr, Warsaw, Poland. [Lissowska, Jolanta] Inst Oncol, Warsaw, Poland. [Rudnai, Peter] Natl Ctr Publ Hlth, Budapest, Hungary. [Fabianova, Eleonora] Reg Author Publ Hlth, Banska Bystrica, Slovakia. [Dumitru, Rodica Stanescu] Inst Publ Hlth, Bucharest, Romania. [Bencko, Vladimir] Charles Univ Prague, Fac Med 1, Inst Hyg & Epidemiol, Prague, Czech Republic. [Foretova, Lenka] Masaryk Univ, Dept Canc Epidemiol & Genet, Masaryk Mem Canc Inst, Brno, Czech Republic. [Foretova, Lenka] Masaryk Univ, Dept Canc Epidemiol & Genet, Fac Med, Brno, Czech Republic. [Janout, Vladimir] Palacky Univ, Fac Med, Olomouc, Czech Republic. [Boffetta, Paolo] Icahn Sch Med Mt Sinai, Tisch Canc Inst, New York, NY 10029 USA. [Boffetta, Paolo] Icahn Sch Med Mt Sinai, Inst Translat Epidemiol, New York, NY 10029 USA. [Bueno-de-Mesquita, Bas] Natl Inst Publ Hlth & Environm RIVM, Bilthoven, Netherlands. [Forastiere, Francesco] ASL RomaE, Dept Epidemiol, Rome, Italy. RP Olsson, AC (reprint author), IARC, ENV, 150 Cours Albert Thomas, F-69372 Lyon 08, France. EM olssona@iarc.fr RI Bruning, Thomas/G-8120-2015 OI Bruning, Thomas/0000-0001-9560-5464 FU German Social Accident Insurance (DGUV) [FP 271]; Canada by Canadian Institutes for Health Research and Guzzo-SRC Chair in Environment and Cancer; National Cancer Institute of Canada; Canadian Cancer Society; Occupational Cancer Research Centre; Workplace Safety and Insurance Board; Cancer Care Ontario; Germany by Federal Ministry of Education, Science, Research, and Technology [01 HK 173/0]; Federal Ministry of Science [01 HK 546/8]; Ministry of Labour and Social Affairs [IIb7-27/13]; Poland by Polish State Committee for Scientific Research [SPUB-M-COPERNICUS/P-05/DZ-30/99/2000]; European Commission [IC15-CT96-0313] FX Joachim Schuz and Kurt Straif are part of a collaborative study with the State Russian Institute of Occupational Health (SRIOH) on asbestos and cancer risk, which includes financial support from SRIOH to IARC. Paolo Boffetta acted as expert witness for Edison SpA in asbestos-related litigation, outside the submitted work. Beate Pesch, Thomas Behrens, Benjamin Kendzia, and Thomas Bruning, as staff of the Institute for Prevention and Occupational Medicine (IPA), are employed at the "Berufsgenossenschaft Rohstoffe und chemische Industrie" (BG RCI), a public body, which is a member of the study's main sponsor, the German Social Accident Insurance (DGUV). IPA is an independent research institute of the Ruhr-Universitat Bochum. The authors are independent from the German Social Accident Insurance in study design, access to the collected data, responsibility for data analysis and interpretation, and the right to publish. The views expressed in this article are those of the authors and not necessarily those of the sponsor. The other authors report no conflicts of interest. The SYNERGY project is funded by the German Social Accident Insurance (DGUV), Grant FP 271. The original studies were funded as follows: in Canada by Canadian Institutes for Health Research and Guzzo-SRC Chair in Environment and Cancer, National Cancer Institute of Canada, Canadian Cancer Society, Occupational Cancer Research Centre, Workplace Safety and Insurance Board, Canadian Cancer Society, and Cancer Care Ontario; in France by the French Agency of Health Security (ANSES), Fondation de France, French National Research Agency (ANR), National Institute of Cancer (INCA), Fondation pour la Recherche Medicale, French Institute for Public Health Surveillance (InVS), Health Ministry (DGS), Organization for the Research on Cancer (ARC), and French Ministry of work, solidarity, and public function (DGT); in Germany by Federal Ministry of Education, Science, Research, and Technology (Grant 01 HK 173/0), Federal Ministry of Science (Grant 01 HK 546/8), and the Ministry of Labour and Social Affairs (Grant IIb7-27/13); in Italy by Environmental Epidemiology Program of the Lombardy Region, INAIL, Italian Association for Cancer Research, Region Piedmont, Compagnia di San Paolo, and Lazio Region; in Poland by Polish State Committee for Scientific Research (Grant SPUB-M-COPERNICUS/P-05/DZ-30/99/2000); in Czech Republic by MH CZ - DRO (MMCI, 00209805); in Spain by Instituto Universitario de Oncologia, Universidad de Oviedo, Asturias, Fondo de Investigacion Sanitaria (FIS) and Ciber de Epidemiologia y Salud Publica (CIBERESP); in Sweden by Swedish Council for Work Life Research and Swedish Environmental Protection Agency; in the Netherlands by Dutch Ministry of Health, Welfare and Sports, National Institute of Public Health and the Environment, and Europe Against Cancer Program; in the UK by Roy Castle Foundation; in the USA by Intramural Research Program of the National Institutes of Health, National Cancer Institute, Division of Cancer Epidemiology and Genetics, Bethesda, MD; the IARC multicenter study in Central and Eastern Europe was funded by the European Commission's INCO Copernicus program (Contract IC15-CT96-0313). NR 37 TC 0 Z9 0 U1 4 U2 4 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1044-3983 EI 1531-5487 J9 EPIDEMIOLOGY JI Epidemiology PD MAR PY 2017 VL 28 IS 2 BP 288 EP 299 DI 10.1097/EDE.0000000000000604 PG 12 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EK5IB UT WOS:000393959000027 PM 28141674 ER PT J AU Imamachi, N Salam, KA Suzuki, Y Akimitsu, N AF Imamachi, Naoto Salam, Kazi Abdus Suzuki, Yutaka Akimitsu, Nobuyoshi TI A GC-rich sequence feature in the 3 ' UTR directs UPF1-dependent mRNA decay in mammalian cells SO GENOME RESEARCH LA English DT Article ID EXON JUNCTION COMPLEX; UPF1 PHOSPHORYLATION; STABILITY; REVEALS; SURVEILLANCE; EVOLUTION; BINDING; DEGRADATION; TRANSCRIPTS; ABUNDANCE AB Up-frameshift protein 1 (UPF1) is an ATP-dependent RNA helicase that has essential roles in RNA surveillance and in post-transcriptional gene regulation by promoting the degradation of mRNAs. Previous studies revealed that UPF1 is associated with the 3' untranslated region (UTR) of target mRNAs via as-yet-unknown sequence features. Herein, we aimed to identify characteristic sequence features of UPF1 targets. We identified 246 UPF1 targets by measuring RNA stabilization upon UPF1 depletion and by identifying mRNAs that associate with UPF1. By analyzing RNA footprint data of phosphorylated UPF1 and two CLIP-seq data of UPF1, we found that 3' UTR but not 5' UTRs or open reading frames of UPF1 targets have GC-rich motifs embedded in high GC-content regions. Reporter gene experiments revealed that GC-rich motifs in UPF1 targets were indispensable for UPF1-mediated mRNA decay. These findings highlight the important features of UPF1 target 3' UTRs. C1 [Imamachi, Naoto; Salam, Kazi Abdus; Akimitsu, Nobuyoshi] Univ Tokyo, Isotope Sci Ctr, Bunkyo Ku, Tokyo 1130032, Japan. [Suzuki, Yutaka] Univ Tokyo, Grad Sch Frontier Sci, Dept Computat Biol & Med Sci, Kashiwa, Chiba 2778562, Japan. [Salam, Kazi Abdus] NIH, Infect Dis & Immunogenet Sect, Dept Transfus Med, Ctr Clin, Bethesda, MD 20892 USA. RP Akimitsu, N (reprint author), Univ Tokyo, Isotope Sci Ctr, Bunkyo Ku, Tokyo 1130032, Japan. EM akimitsu@ric.u-tokyo.ac.jp OI Imamachi, Naoto/0000-0002-3503-7589 FU MEXT KAKENHI [221S0002, 21115001]; Funding Program for World-Leading Innovative R&D on Science and Technology of the Japan Society for the Promotion of Science; Japan Society for the Promotion of Science FX This work was financially supported by MEXT KAKENHI (Grant Numbers 221S0002 and 21115001), the Funding Program for World-Leading Innovative R&D on Science and Technology of the Japan Society for the Promotion of Science and Research Fellowship of the Japan Society for the Promotion of Science. NR 47 TC 0 Z9 0 U1 1 U2 1 PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT PI COLD SPRING HARBOR PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA SN 1088-9051 EI 1549-5469 J9 GENOME RES JI Genome Res. PD MAR PY 2017 VL 27 IS 3 BP 407 EP 418 DI 10.1101/gr.206060.116 PG 12 WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity GA EN0IR UT WOS:000395694000007 PM 27940950 ER PT J AU Goldstein, I Baek, S Presman, DM Paakinaho, V Swinstead, EE Hager, GL AF Goldstein, Ido Baek, Songjoon Presman, Diego M. Paakinaho, Ville Swinstead, Erin E. Hager, Gordon L. TI Transcription factor assisted loading and enhancer dynamics dictate the hepatic fasting response SO GENOME RESEARCH LA English DT Article ID ACTIVATED RECEPTOR-ALPHA; GLUCOCORTICOID-RECEPTOR; CHROMATIN ACCESSIBILITY; REGULATORY ELEMENTS; IN-VIVO; CELLS; BINDING; GENOME; GENE; EXCHANGE AB Fasting elicits transcriptional programs in hepatocytes leading to glucose and ketone production. This transcriptional program is regulated by many transcription factors (TFs). To understand how this complex network regulates the metabolic response to fasting, we aimed at isolating the enhancers and TFs dictating it. Measuring chromatin accessibility revealed that fasting massively reorganizes liver chromatin, exposing numerous fasting-induced enhancers. By utilizing computational methods in combination with dissecting enhancer features and TF cistromes, we implicated four key TFs regulating the fasting response: glucocorticoid receptor (GR), cAMP responsive element binding protein 1 (CREB1), peroxisome proliferator activated receptor alpha (PPARA), and CCAAT/enhancer binding protein beta (CEBPB). These TFs regulate fuel production by two distinctly operating modules, each controlling a separate metabolic pathway. The gluconeogenic module operates through assisted loading, whereby GR doubles the number of sites occupied by CREB1 as well as enhances CREB1 binding intensity and increases accessibility of CREB1 binding sites. Importantly, this GR-assisted CREB1 binding was enhancer-selective and did not affect all CREB1-bound enhancers. Single-molecule tracking revealed that GR increases the number and DNA residence time of a portion of chromatin-bound CREB1 molecules. These events collectively result in rapid synergistic gene expression and higher hepatic glucose production. Conversely, the ketogenic module operates via a GR-induced TF cascade, whereby PPARA levels are increased following GR activation, facilitating gradual enhancer maturation next to PPARA target genes and delayed ketogenic gene expression. Our findings reveal a complex network of enhancers and TFs that dynamically cooperate to restore homeostasis upon fasting. C1 [Goldstein, Ido; Baek, Songjoon; Presman, Diego M.; Paakinaho, Ville; Swinstead, Erin E.; Hager, Gordon L.] NCI, Lab Receptor Biol & Gene Express, NIH, Bethesda, MD 20892 USA. RP Goldstein, I; Hager, GL (reprint author), NCI, Lab Receptor Biol & Gene Express, NIH, Bethesda, MD 20892 USA. EM goldstein.ido@gmail.com; hagerg@dce41.nci.nih.gov FU Intramural Research Program of the National Institutes of Health (NIH); National Cancer Institute (NCI); Center for Cancer Research (CCR); Sigrid Juselius Foundation FX We thank Lars Grontved, Tom Johnson, Lyuba Varticovski, Tom Misteli, and Irwin Arias for their comments and help. This work was supported by the Intramural Research Program of the National Institutes of Health (NIH), the National Cancer Institute (NCI), and the Center for Cancer Research (CCR). V.P. was supported, in part, by the Sigrid Juselius Foundation. NR 49 TC 0 Z9 0 U1 1 U2 1 PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT PI COLD SPRING HARBOR PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA SN 1088-9051 EI 1549-5469 J9 GENOME RES JI Genome Res. PD MAR PY 2017 VL 27 IS 3 BP 427 EP 439 DI 10.1101/gr.212175.116 PG 13 WC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Genetics & Heredity GA EN0IR UT WOS:000395694000009 PM 28031249 ER PT J AU Gupta, S Jacobs, ET Baron, JA Lieberman, DA Murphy, G Ladabaum, U Cross, AJ Jover, R Liu, L Martinez, ME AF Gupta, Samir Jacobs, Elizabeth T. Baron, John A. Lieberman, David A. Murphy, Gwen Ladabaum, Uri Cross, Amanda J. Jover, Rodrigo Liu, Lin Martinez, Maria Elena TI Risk stratification of individuals with low-risk colorectal adenomas using clinical characteristics: a pooled analysis SO GUT LA English DT Article ID CANCER INCIDENCE; COLONOSCOPY SURVEILLANCE; TASK-FORCE; MORTALITY; TRIAL; POLYPECTOMY; RECURRENCE; REMOVAL; SIGMOIDOSCOPY; GUIDELINES AB Objective For individuals with 1- 2 small (<1 cm) low-risk colorectal adenomas, international guidelines range from no surveillance to offering surveillance colonoscopy in 5-10 years. We hypothesised that the risks for metachronous advanced neoplasia (AN) among patients with low-risk adenomas differ based on clinical factors distinct from those currently used. Design We pooled data from seven prospective studies to assess the risk of metachronous AN. Two groups with 1- 2 small adenomas were defined based on guidelines from the UK (n=4516) or the European Union (EU)/US (n=2477). Results Absolute risk of metachronous AN ranged from a low of 2.9% to a high of 12.2%, depending on specific risk factor and guideline used. For the UK group, the highest absolute risks for metachronous AN were found among individuals with a history of prior polyp (12.2%), villous histology (12.2%), age >= 70 years (10.9%), high- grade dysplasia (10.9%), any proximal adenoma (10.2%), distal and proximal adenoma (10.8%) or two adenomas (10.1%). For the EU/US group, the highest absolute risks for metachronous AN were among individuals with a history of prior polyp (11.5%) or the presence of both proximal and distal adenomas (11.0%). In multivariate analyses, strong associations for increasing age and history of prior polyps and odds of metachronous AN were observed, whereas more modest associations were shown for baseline proximal adenomas and those with villous features. Conclusions Risks of metachronous AN among individuals with 1- 2 small adenomas vary according to readily available clinical characteristics. These characteristics may be considered for recommending colonoscopy surveillance and require further investigation. C1 [Gupta, Samir] Veteran Affairs San Diego Healthcare Syst, Gastroenterol Sect, Dept Med, San Diego, CA USA. [Gupta, Samir] Univ Calif San Diego, Div Gastroenterol, Dept Internal Med, La Jolla, CA 92093 USA. [Gupta, Samir; Liu, Lin; Martinez, Maria Elena] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 USA. [Jacobs, Elizabeth T.] Univ Arizona, Arizona Canc Ctr, Dept Epidemiol & Biostat, Arizona Coll Publ Hlth, Tucson, AZ USA. [Baron, John A.] Univ N Carolina, Sch Med, Dept Med, Chapel Hill, NC USA. [Lieberman, David A.] Portland Vet Affairs Med Cente, Div Gastroenterol & Hepatol, Portland, OR USA. [Lieberman, David A.] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. [Murphy, Gwen] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Ladabaum, Uri] Stanford Univ, Dept Med, Sch Med, Div Gastroenterol Hepatol, Stanford, CA 94305 USA. [Cross, Amanda J.] NCI, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv, NIH, Rockville, MD USA. [Jover, Rodrigo] Hosp Gen Univ Alicante, Inst Invest Sanitaria ISABIAL, Unidad Gastroenterol, Alicante, Spain. [Liu, Lin; Martinez, Maria Elena] Univ Calif San Diego, Dept Family Med & Publ Hlth, La Jolla, CA 92093 USA. RP Martinez, ME (reprint author), Univ Calif San Diego, Moores Canc Ctr, Dept Family Med & Publ Hlth, 3855 Hlth Sci Dr,0901, La Jolla, CA 92093 USA. EM e8martinez@ucsd.edu FU Public Health Service from the National Cancer Institute [CA-41108, CA-23074, CA95060, CA37287, CA104869, CA23108, CA59005, CA26852]; Cooperative Studies Program, Department of Veterans Affairs; USA Department of Veterans Affairs Health Services Research & Development Service of the VA Office of Research and Development [1 I01 HX001574-01A1]; Instituto de Salud Carlos III; Fondos FEDER [PI11/2630, INT-13-078, INT-14-196, UGP-13-221, PI14/01386] FX This work was supported by Public Health Service grants CA-41108, CA-23074, CA95060, CA37287, CA104869, CA23108, CA59005 and CA26852 from the National Cancer Institute. Funding for the Veteran's Affairs Study was supported by the Cooperative Studies Program, Department of Veterans Affairs. Support was also provided in part by Merit Review Award number 1 I01 HX001574-01A1 (Gupta, PI) from the USA Department of Veterans Affairs Health Services Research & Development Service of the VA Office of Research and Development. The views expressed in this article are those of the author(s) and do not necessarily represent the views of the Department of Veterans Affairs. Additional support was provide by Instituto de Salud Carlos III and Fondos FEDER (PI11/2630, INT-13-078, INT-14-196, UGP-13-221, PI14/01386).. NR 25 TC 1 Z9 1 U1 0 U2 0 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 0017-5749 EI 1468-3288 J9 GUT JI Gut PD MAR PY 2017 VL 66 IS 3 SU 1 BP 446 EP 453 DI 10.1136/gutjnl-2015-310196 PG 8 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA EL3BY UT WOS:000394495800010 PM 26658145 ER PT J AU Hussein, S Green, A Watane, A Reiter, D Chen, XJ Papadakis, GZ Wood, B Cypess, A Osman, M Bagci, U AF Hussein, Sarfaraz Green, Aileen Watane, Arjun Reiter, David Chen, Xinjian Papadakis, Georgios Z. Wood, Bradford Cypess, Aaron Osman, Medhat Bagci, Ulas TI Automatic Segmentation and Quantification of White and Brown Adipose Tissues from PET/CT Scans SO IEEE TRANSACTIONS ON MEDICAL IMAGING LA English DT Article DE Visceral Fat Segmentation; Central Obesity Quantification; Segmentation of Brown Fat; Brown Adipose Tissue; Abdominal Fat Quantification; Co-Segmentation ID VISCERAL FAT ACCUMULATION; ALL-CAUSE MORTALITY; IMAGE SEGMENTATION; CARDIOVASCULAR-DISEASE; CT IMAGES; CANCER; ALGORITHM; TOMOGRAPHY; OBESITY; HUMANS AB In this paper, we investigate the automatic detection of white and brown adipose tissues using Positron Emission Tomography/Computed Tomography (PET/CT) scans, and develop methods for the quantification of these tissues at the whole-body and body-region levels. We propose a patient-specific automatic adiposity analysis system with two modules. In the first module, we detect white adipose tissue (WAT) and its two sub-types from CT scans: Visceral Adipose Tissue (VAT) and Subcutaneous Adipose Tissue (SAT). This process relies conventionally on manual or semi-automated segmentation, leading to inefficient solutions. Our novel framework addresses this challenge by proposing an unsupervised learning method to separate VAT from SAT in the abdominal region for the clinical quantification of central obesity. This step is followed by a context driven label fusion algorithm through sparse 3D Conditional Random Fields (CRF) for volumetric adiposity analysis. In the second module, we automatically detect, segment, and quantify brown adipose tissue (BAT) using PET scans because unlike WAT, BAT is metabolically active. After identifying BAT regions using PET, we perform a co-segmentation procedure utilizing asymmetric complementary information from PET and CT. Finally, we present a new probabilistic distance metric for differentiating BAT from non-BAT regions. Both modules are integrated via an automatic body-region detection unit based on one-shot learning. Experimental evaluations conducted on 151 PET/CT scans achieve state-of-the-art performances in both central obesity as well as brown adiposity quantification. C1 [Hussein, Sarfaraz; Watane, Arjun; Bagci, Ulas] Univ Cent Florida, Ctr Res Comp Vis, Orlando, FL 32826 USA. [Green, Aileen] Cardiol Clin Muskogee, Muskogee, OK 74401 USA. [Reiter, David; Papadakis, Georgios Z.; Wood, Bradford; Cypess, Aaron] NIH, Bldg 10, Bethesda, MD 20892 USA. [Chen, Xinjian] Soochow Univ, Suzhou 215006, Peoples R China. [Osman, Medhat] St Louis Univ, Dept Nucl Med, St Louis, MO 63103 USA. RP Bagci, U (reprint author), Univ Cent Florida, Ctr Res Comp Vis, Orlando, FL 32826 USA. EM ulasbagci@gmail.com OI Bagci, Ulas/0000-0001-7379-6829 NR 52 TC 0 Z9 0 U1 4 U2 4 PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC PI PISCATAWAY PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA SN 0278-0062 EI 1558-254X J9 IEEE T MED IMAGING JI IEEE Trans. Med. Imaging PD MAR PY 2017 VL 36 IS 3 BP 734 EP 744 DI 10.1109/TMI.2016.2636188 PG 11 WC Computer Science, Interdisciplinary Applications; Engineering, Biomedical; Engineering, Electrical & Electronic; Imaging Science & Photographic Technology; Radiology, Nuclear Medicine & Medical Imaging SC Computer Science; Engineering; Imaging Science & Photographic Technology; Radiology, Nuclear Medicine & Medical Imaging GA EN6ME UT WOS:000396117300005 PM 28114010 ER PT J AU Mao, L Deng, WW Yu, GT Bu, LL Liu, JF Ma, SR Wu, L Kulkarni, AB Zhang, WF Sun, ZJ AF Mao, Liang Deng, Wei-Wei Yu, Guang-Tao Bu, Lin-Lin Liu, Jian-Feng Ma, Si-Rui Wu, Lei Kulkarni, Ashok B. Zhang, Wen-Feng Sun, Zhi-Jun TI Inhibition of SRC family kinases reduces myeloid-derived suppressor cells in head and neck cancer SO INTERNATIONAL JOURNAL OF CANCER LA English DT Article DE head and neck cancer; LYN kinase; myeloid-derived suppressor cell; SRC family kinase ID HPV-NEGATIVE HEAD; NUDE-MOUSE MODEL; BREAST-CANCER; MESENCHYMAL TRANSITION; TUMOR MICROENVIRONMENT; IMMUNE SUPPRESSION; PROSTATE-CANCER; DOWN-REGULATION; T-CELL; CARCINOMA AB SRC family kinases (SFKs), a group of nonreceptor tyrosine kinases, modulate multiple cellular functions, such as cell proliferation, differentiation and metabolism. SFKs display aberrant activity in progressive stages of human cancers. However, the precise role of SFKs in the head and neck squamous cell carcinoma (HNSCC) signaling network is far from clear. In this study, we found that the inhibition of SFKs activity by dasatinib effectively reduced the tumor size and population of MDSCs in the HNSCC mouse model. Molecular analysis indicates that phosphorylation of LYN, rather than SRC, was inhibited by dasatinib treatment. Next, we analyzed LYN expression by immunostaining and found that it was overexpressed in the human HNSCC specimens. Moreover, LYN expression in stromal cells positively correlated with myeloid-derived suppressor cells (MDSCs) makers CD11b and CD33 in human HNSCC. The dual positive expression of LYN in epithelial and stromal cells (EPI+ SRT+) was associated with unfavorable overall survival of HNSCC patients. These findings indicate that SFKs may be a potential target for an effective immunotherapy of HNSCC by decreasing MDSCs and moreover, LYN will have an impact on such therapeutic strategy. C1 [Mao, Liang; Deng, Wei-Wei; Yu, Guang-Tao; Bu, Lin-Lin; Liu, Jian-Feng; Ma, Si-Rui; Wu, Lei; Sun, Zhi-Jun] Wuhan Univ, State Key Lab Breeding Base Basic Sci Stomatol, Wuhan, Peoples R China. [Mao, Liang; Deng, Wei-Wei; Yu, Guang-Tao; Bu, Lin-Lin; Liu, Jian-Feng; Ma, Si-Rui; Wu, Lei; Sun, Zhi-Jun] Wuhan Univ, Key Lab Oral Biomed, Minist Educ, Sch & Hosp Stomatol, Wuhan, Peoples R China. [Bu, Lin-Lin; Zhang, Wen-Feng; Sun, Zhi-Jun] Wuhan Univ, Sch & Hosp Stomatol, Dept Oral Maxillofacial Head Neck Oncol, Wuhan, Peoples R China. [Kulkarni, Ashok B.] Natl Inst Dent & Craniofacial Res, Funct Genom Sect, Lab Cell & Dev Biol, NIH, Bethesda, MD USA. RP Sun, ZJ (reprint author), Wuhan Univ, Sch & Hosp Stomatol, Wuhan 430079, Peoples R China. EM sunzj@whu.edu.cn FU National Natural Science Foundation of China [81272963, 81472528, 81672668, 81272964, 81472529, 81672667]; program for new century excellent talents in university, Ministry of Education of China [NCET-13-0439] FX This work was supported by National Natural Science Foundation of China 81272963, 81472528, 81672668 (Z.J S.), 81272964, 81472529, 81672667 (W.F.Z). Z.J.S. was supported by program for new century excellent talents in university (NCET-13-0439), Ministry of Education of China. NR 53 TC 0 Z9 0 U1 2 U2 2 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0020-7136 EI 1097-0215 J9 INT J CANCER JI Int. J. Cancer PD MAR 1 PY 2017 VL 140 IS 5 BP 1173 EP 1185 DI 10.1002/ijc.30493 PG 13 WC Oncology SC Oncology GA EK5OQ UT WOS:000393976100019 PM 27798955 ER PT J AU Alvidrez, J Perez-Stable, J AF Alvidrez, Jennifer Perez-Stable, J. TI Diabetes Care in Latinos With Limited English Proficiency What Do Language Concordant Clinicians Add? SO JAMA INTERNAL MEDICINE LA English DT Editorial Material C1 [Alvidrez, Jennifer; Perez-Stable, J.] Natl Inst Minor Hlth & Hlth Dispar, NIH, 6707 Democracy Blvd,Ste 800, Bethesda, MD 20892 USA. [Perez-Stable, J.] Univ Calif San Francisco, Dept Med, San Francisco, CA USA. RP Perez-Stable, J (reprint author), Natl Inst Minor Hlth & Hlth Dispar, NIH, 6707 Democracy Blvd,Ste 800, Bethesda, MD 20892 USA. EM eliseo.perez-stable@nih.gov NR 11 TC 0 Z9 0 U1 0 U2 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6106 EI 2168-6114 J9 JAMA INTERN MED JI JAMA Intern. Med. PD MAR 1 PY 2017 VL 177 IS 3 BP 313 EP 315 DI 10.1001/jamainternmed.2016.8661 PG 3 WC Medicine, General & Internal SC General & Internal Medicine GA EN7RX UT WOS:000396201000007 PM 28114669 ER PT J AU Jefferson, AA Pearson, SD AF Jefferson, Akilah A. Pearson, Steven D. TI Conflict of Interest in Seminal Hepatitis C Virus and Cholesterol Management Guidelines SO JAMA INTERNAL MEDICINE LA English DT Article ID CLINICAL-PRACTICE GUIDELINES; AMERICAN-COLLEGE; DYSLIPIDEMIA AB IMPORTANCE Little is known regarding whether Institute of Medicine (IOM) standards for managing conflicts of interest (COI) have been met in the development of recent important clinical guidelines. OBJECTIVE To evaluate adherence to the IOM standards for limits on commercial COI, guideline development, and evaluation of evidence by the 2013 American College of Cardiology and American Heart Association cholesterol management guideline and the 2014 American Association for the Study of Liver Diseases and Infectious Diseases Society of America hepatitis C virus management guideline. DESIGN, SETTING, AND PARTICIPANTS This study was a retrospective document review of the June 2014 print version of the cholesterol guideline and the final September 2015 print version of the hepatitis C virus guideline. Each guideline was assessed for adherence to the IOM standards for commercial COI published in the 2011 special report Clinical Practice Guidelines We Can Trust. MAIN OUTCOMES AND MEASURES The IOM standards call for no commercial COI among guideline committee chairs and cochairs and for less than 50% of committee members to have commercial COI. Guideline and contemporaneous article disclosure statements were used to evaluate adherence to these standards. Each guideline was also reviewed for adherence to other IOM standards for guideline development and evidence review. RESULTS Among the 16 cholesterol guideline committee members, 7 (44%) disclosed commercial COI, all 7 reported industry-sponsored research, and 6 (38%) also reported consultancy. Of 3 guideline chairs and cochairs, 1 (33%) disclosed commercial COI. Review of contemporaneous articles identified additional commercial COI. Among the 29 hepatitis C virus guideline committee members, 21 (72%) reported commercial COI. Eighteen (62%) disclosed industry-sponsored research, 10 (34%) served on advisory boards, 5 (17%) served on data safety monitoring boards, 3 (10%) were consultants, and 3 (10%) reported other honoraria. Of 6 guideline cochairs, 4 (67%) disclosed commercial COI. All 4 disclosed additional COI in other publications that were not listed in their guideline disclosures. Contemporaneous literature review revealed an additional cochair with commercial COI. Of the 9 IOM guideline development and evidence standards, the cholesterol guideline met 5 (56%), and the hepatitis C virus guideline met them all. CONCLUSIONS AND RELEVANCE Neither the cholesterol guideline nor the hepatitis C virus guideline fully met the IOM standards for commercial COI management, and discordance between committee leader guideline disclosures and those in contemporaneous articles was common. Adherence to additional IOM standards for guideline development and evidence review was mixed. Adoption of consistent COI frameworks across specialty societies may help ensure that clinical guidelines are developed in a transparent and trustworthy manner. C1 [Jefferson, Akilah A.; Pearson, Steven D.] NIH, Ctr Clin, Dept Bioeth, 10 Ctr Dr,Room 1C118, Bethesda, MD 20892 USA. [Pearson, Steven D.] Inst Clin & Econ Review, Boston, MA USA. RP Pearson, SD (reprint author), NIH, Ctr Clin, Dept Bioeth, 10 Ctr Dr,Room 1C118, Bethesda, MD 20892 USA. EM pearsonsd@cc.nih.gov FU National Institutes of Health FX This study was supported by an intramural research grant from the National Institutes of Health. NR 24 TC 1 Z9 1 U1 1 U2 1 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6106 EI 2168-6114 J9 JAMA INTERN MED JI JAMA Intern. Med. PD MAR 1 PY 2017 VL 177 IS 3 BP 352 EP 357 DI 10.1001/jamainternmed.2016.8439 PG 6 WC Medicine, General & Internal SC General & Internal Medicine GA EN7RX UT WOS:000396201000017 PM 28114439 ER PT J AU Olfson, M Blanco, C Marcus, SC AF Olfson, Mark Blanco, Carlos Marcus, Steven C. TI Screening for Depression Through a Glass Darkly Reply SO JAMA INTERNAL MEDICINE LA English DT Editorial Material ID MAJOR DEPRESSION C1 [Olfson, Mark] Columbia Univ, Dept Psychiat, Coll Phys & Surg, New York, NY USA. [Olfson, Mark] New York State Psychiat Inst & Hosp, New York, NY 10032 USA. [Blanco, Carlos] NIDA, Bethesda, MD 20892 USA. [Marcus, Steven C.] Univ Penn, Sch Social Practice & Policy, Philadelphia, PA 19104 USA. RP Olfson, M (reprint author), Columbia Univ, New York State Psychiat Inst, Dept Psychiat, Coll Phys & Surg, 1051 Riverside Dr, New York, NY 10032 USA. EM mo49@cumc.columbia.edu FU Agency for Healthcare Quality and Research [U19 HS02112]; National Institute on Drug Abuse FX This work was supported by the Agency for Healthcare Quality and Research (grant No. U19 HS02112). Work by Dr Blanco was supported by the National Institute on Drug Abuse; Dr Blanco had no role in the grant from the Agency for Healthcare Quality and Research. NR 6 TC 0 Z9 0 U1 1 U2 1 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-6106 EI 2168-6114 J9 JAMA INTERN MED JI JAMA Intern. Med. PD MAR 1 PY 2017 VL 177 IS 3 BP 447 EP 448 DI 10.1001/jamainternmed.2016.9287 PG 2 WC Medicine, General & Internal SC General & Internal Medicine GA EN7RX UT WOS:000396201000048 PM 28264123 ER PT J AU Xue, YX Deng, JH Chen, YY Zhang, LB Wu, P Huang, GD Luo, YX Bao, YP Wang, YM Shaham, Y Shi, J Lu, L AF Xue, Yan-Xue Deng, Jia-Hui Chen, Ya-Yun Zhang, Li-Bo Wu, Ping Huang, Geng-Di Luo, Yi-Xiao Bao, Yan-Ping Wang, Yu-Mei Shaham, Yavin Shi, Jie Lu, Lin TI Effect of Selective Inhibition of Reactivated Nicotine-Associated Memories With Propranolol on Nicotine Craving SO JAMA PSYCHIATRY LA English DT Article ID RETRIEVAL-EXTINCTION PROCEDURE; ADRENERGIC-RECEPTOR BLOCKADE; DRIVEN TRAUMATIC IMAGERY; BASOLATERAL AMYGDALA; REINSTATEMENT MODEL; DEPENDENT HUMANS; PLACE PREFERENCE; SMOKING RELAPSE; CUE REACTIVITY; DRUG RELAPSE AB IMPORTANCE A relapse into nicotine addiction during abstinence often occurs after the reactivation of nicotine reward memories, either by acute exposure to nicotine (a smoking episode) or by smoking-associated conditioned stimuli (CS). Preclinical studies suggest that drug reward memories can undergo memory reconsolidation after being reactivated, during which they can be weakened or erased by pharmacological or behavioral manipulations. However, translational clinical studies using CS-induced memory retrieval-reconsolidation procedures to decrease drug craving reported inconsistent results. OBJECTIVE To develop and test an unconditioned stimulus (UCS)-induced retrieval-reconsolidation procedure to decrease nicotine craving among people who smoke. DESIGN, SETTING, AND PARTICIPANTS A translational rat study and human study in an academic outpatient medical center among 96 male smokers (aged 18-45 years) to determine the association of propranolol administration within the time window of memory reconsolidation (after retrieval of the nicotine-associated memories by nicotine UCS exposure) with relapse to nicotine-conditioned place preference (CPP) and operant nicotine seeking in rats, and measures of preference to nicotine-associated CS and nicotine craving among people who smoke. INTERVENTION The study rats were injected noncontingently with the UCS (nicotine 0.15mg/kg, subcutaneous) in their home cage, and the human study participants administered a dose of propranolol (40mg, per os; Zhongnuo Pharma). MAIN OUTCOMES AND MEASURES Nicotine CPP and operant nicotine seeking in rats, and preference and craving ratings for newly learned and preexisting real-life nicotine-associated CS among people who smoke. RESULTS Sixty-nine male smokers completed the experiment and were included for statistical analysis: 24 in the group that received placebo plus 1 hour plus UCS, 23 who received propranolol plus 1 hour plus UCS, and 22 who received UCS plus 6 hours plus propranolol. In rat relapse models, propranolol injections administered immediately after nicotine UCS-induced memory retrieval inhibited subsequent nicotine CPP and operant nicotine seeking after short (CPP, d=1.72, 95% CI, 0.63-2.77; operant seeking, d=1.61, 95% CI, 0.59-2.60) or prolonged abstinence (CPP, d=1.46, 95% CI, 0.42-2.47; operant seeking: d=1.69, 95% CI, 0.66-2.69), as well as nicotine priming-induced reinstatement of nicotine CPP (d=1.28, 95% CI, 0.27-2.26) and operant nicotine seeking (d=1.61, 95% CI, 0.59-2.60) after extinction. Among the smokers, oral propranolol administered prior to nicotine UCS-induced memory retrieval decreased subsequent nicotine preference induced by newly learned nicotine CS (CS1, Cohen d=0.61, 95% CI, 0.02-1.19 and CS2, d=0.69, 95% CI, 0.10-1.28, respectively), preexisting nicotine CS (d=0.57, 95% CI, -0.02 to 1.15), and nicotine priming (CS1, d=0.82, 95% CI, 0.22-1.41 and CS2, d=0.78, 95% CI, 0.18-1.37, respectively; preexisting nicotine CS, d=0.92, 95% CI, 0.31-1.52), as well as nicotine craving induced by the preexisting nicotine CS (d=0.64, 95% CI, 0.05-1.22), and nicotine priming (d=1.15, 95% CI, 0.52-1.76). CONCLUSIONS AND RELEVANCE In rat-to-human translational study, a novel UCS-induced memory retrieval-reconsolidation interference procedure inhibited nicotine craving induced by exposure to diverse nicotine-associated CS and nicotine itself. This procedure should be studied further in clinical trials. Copyright 2017 American Medical Association. All rights reserved. C1 [Deng, Jia-Hui; Chen, Ya-Yun; Luo, Yi-Xiao; Wang, Yu-Mei; Lu, Lin] Peking Univ, Hosp 6, Inst Mental Hlth, 51 Huayuan Rd, Beijing 100191, Peoples R China. [Xue, Yan-Xue; Deng, Jia-Hui; Chen, Ya-Yun; Zhang, Li-Bo; Wu, Ping; Huang, Geng-Di; Luo, Yi-Xiao; Bao, Yan-Ping; Shi, Jie; Lu, Lin] Peking Univ, Beijing Key Lab Drug Dependence, Natl Inst Drug Dependence, Beijing, Peoples R China. [Lu, Lin] Peking Univ, Natl Clin Res Ctr Mental Disorders, Beijing, Peoples R China. [Lu, Lin] Peking Univ, Key Lab Mental Hlth, Minist Hlth, Beijing, Peoples R China. [Shaham, Yavin] NIDA, Intramural Res Program, NIH, Baltimore, MD USA. [Lu, Lin] Peking Univ, Peking Tsinghua Ctr Life Sci, Beijing, Peoples R China. [Lu, Lin] Peking Univ, PKU IDG McGovern Inst Brain Res, Beijing, Peoples R China. RP Lu, L (reprint author), Peking Univ, Hosp 6, Inst Mental Hlth, 51 Huayuan Rd, Beijing 100191, Peoples R China. EM linlu@bjmu.edu.cn FU National Basic Research Program of China [2015CB856400, 2015CB559200, 2015CB553503]; Natural Science Foundation of China [31230033, 91432303, 31300930, 81221002, 81201032]; Ten Thousand Youth Talents; Intramural Research Program of the National Insitutue on Drug Abuse FX This research was conducted with support from grants 2015CB856400, 2015CB559200, and 2015CB553503 from the National Basic Research Program of China and grants 31230033, 91432303, 31300930, 81221002, and 81201032 from the Natural Science Foundation of China. This research also received support from Ten Thousand Youth Talents and the Intramural Research Program of the National Insitutue on Drug Abuse. NR 72 TC 0 Z9 0 U1 0 U2 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2168-622X EI 2168-6238 J9 JAMA PSYCHIAT JI JAMA Psychiatry PD MAR 1 PY 2017 VL 74 IS 3 BP 224 EP 232 DI 10.1001/jamapsychiatry.2016.3907 PG 9 WC Psychiatry SC Psychiatry GA EN5LP UT WOS:000396047300005 PM 28146250 ER PT J AU Levine, AG Hemmers, S Baptista, AP Schizas, M Faire, MB Moltedo, B Konopacki, C Schmidt-Supprian, M Germain, RN Treuting, PM Rudensky, AY AF Levine, Andrew G. Hemmers, Saskia Baptista, Antonio P. Schizas, Michail Faire, Mehlika B. Moltedo, Bruno Konopacki, Catherine Schmidt-Supprian, Marc Germain, Ronald N. Treuting, Piper M. Rudensky, Alexander Y. TI Suppression of lethal autoimmunity by regulatory T cells with a single TCR specificity SO JOURNAL OF EXPERIMENTAL MEDICINE LA English DT Article ID SELF-TOLERANCE; IN-VIVO; THYMUS; HOMEOSTASIS; GENERATION; DISEASE; LINEAGE; LIMITS AB The regulatory T cell (T reg cell) T cell receptor (TCR) repertoire is highly diverse and skewed toward recognition of self-antigens. TCR expression by T reg cells is continuously required for maintenance of immune tolerance and for a major part of their characteristic gene expression signature; however, it remains unknown to what degree diverse TCR -mediated interactions with cognate self-antigens are required for these processes. In this study, by experimentally switching the T reg cell TCR repertoire to a single T reg cell TCR, we demonstrate that T reg cell function and gene expression can be partially uncoupled from TCR diversity. An induced switch of the T reg cell TCR repertoire to a random repertoire also preserved, albeit to a limited degree, the ability to suppress lymphadenopathy and T helper cell type 2 activation. At the same time, these perturbations of the T reg cell TCR repertoire led to marked immune cell activation, tissue inflammation, and an ultimately severe autoimmunity, indicating the importance of diversity and specificity for optimal T reg cell function. C1 [Levine, Andrew G.; Hemmers, Saskia; Schizas, Michail; Faire, Mehlika B.; Moltedo, Bruno; Konopacki, Catherine; Rudensky, Alexander Y.] Mem Sloan Kettering Canc Ctr, Howard Hughes Med Inst, Program Immunol, Ludwig Ctr, New York, NY 10065 USA. [Baptista, Antonio P.; Germain, Ronald N.] NIAID, Lymphocyte Biol Sect, Lab Syst Biol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Schmidt-Supprian, Marc] Tech Univ Munich, Klinikum Rechts Isar, Hematol & Oncol, D-80333 Munich, Germany. [Treuting, Piper M.] Univ Washington, Sch Med, Dept Comparat Med, Seattle, WA 98195 USA. RP Rudensky, AY (reprint author), Mem Sloan Kettering Canc Ctr, Howard Hughes Med Inst, Program Immunol, Ludwig Ctr, New York, NY 10065 USA. EM rudenska@mskcc.org RI Schmidt-Supprian, Marc/F-5893-2011 OI Schmidt-Supprian, Marc/0000-0002-8543-6166 FU National Institutes of Health (NIH) Medical Scientist Training Program grant [T32GM07739]; Frank Lappin Horsfall Jr. Student Fellowship; NIH grant [R37AI034206]; Ludwig Center at Memorial Sloan-Kettering Cancer Center; Hilton-Ludwig Cancer Prevention Initiative of the Conrad N. Hilton Foundation; Ludwig Cancer Research; NIH/National Cancer Institute Cancer Center Support [P30 CA008748]; Intramural Research Program of the National Institute of Allergy and Infectious Diseases, NIH FX This work was supported by a National Institutes of Health (NIH) Medical Scientist Training Program grant (T32GM07739) to the Weill Cornell/Rockefeller/SloanKettering Tri-Institutional MD-PhD Program (A.G. Levine), the Frank Lappin Horsfall Jr. Student Fellowship (A.G. Levine), an NIH grant (R37AI034206 to A.Y. Rudensky), the Ludwig Center at Memorial Sloan-Kettering Cancer Center, the Hilton-Ludwig Cancer Prevention Initiative of the Conrad N. Hilton Foundation and Ludwig Cancer Research (A.Y. Rudensky), and the NIH/National Cancer Institute Cancer Center Support Grant (P30 CA008748). This research was also supported in part by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, NIH (R.N. Germain and A.P. Baptista). A.Y. Rudensky is an investigator with the Howard Hughes Medical Institute. NR 30 TC 0 Z9 0 U1 1 U2 1 PU ROCKEFELLER UNIV PRESS PI NEW YORK PA 950 THIRD AVE, 2ND FLR, NEW YORK, NY 10022 USA SN 0022-1007 EI 1540-9538 J9 J EXP MED JI J. Exp. Med. PD MAR PY 2017 VL 214 IS 3 BP 609 EP 622 DI 10.1084/jem.20161318 PG 14 WC Immunology; Medicine, Research & Experimental SC Immunology; Research & Experimental Medicine GA EN2GS UT WOS:000395828600004 PM 28130403 ER PT J AU Volpi, S Yamazaki, Y Brauer, PM van Rooijen, E Hayashida, A Slavotinek, A Kuehn, HS Di Rocco, M Rivolta, C Bortolomai, I Du, LK Felgentreff, K de Bruin, LO Hayashida, K Freedman, G Marcovecchio, GE Capuder, K Rath, P Luche, N Hagedorn, EJ Buoncompagni, A Royer-Bertrand, B Giliani, S Poliani, PL Imberti, L Dobbs, K Poulain, FE Martini, A Manis, J Linhardt, RJ Bosticardo, M Rosenzweig, SD Lee, H Puck, JM Zuniga-Pflucker, JC Zon, L Park, PW Superti-Furga, A Notarangelo, LD AF Volpi, Stefano Yamazaki, Yasuhiro Brauer, Patrick M. van Rooijen, Ellen Hayashida, Atsuko Slavotinek, Anne Kuehn, Hye Sun Di Rocco, Maja Rivolta, Carlo Bortolomai, Ileana Du, Likun Felgentreff, Kerstin de Bruin, Lisa Ott Hayashida, Kazutaka Freedman, George Marcovecchio, Genni Enza Capuder, Kelly Rath, Prisni Luche, Nicole Hagedorn, Elliott J. Buoncompagni, Antonella Royer-Bertrand, Beryl Giliani, Silvia Poliani, Pietro Luigi Imberti, Luisa Dobbs, Kerry Poulain, Fabienne E. Martini, Alberto Manis, John Linhardt, Robert J. Bosticardo, Marita Rosenzweig, Sergio Damian Lee, Hane Puck, Jennifer M. Zuniga-Pflucker, Juan Carlos Zon, Leonard Park, Pyong Woo Superti-Furga, Andrea Notarangelo, Luigi D. TI EXTL3 mutations cause skeletal dysplasia, immune deficiency, and developmental delay SO JOURNAL OF EXPERIMENTAL MEDICINE LA English DT Article ID SEVERE COMBINED IMMUNODEFICIENCY; EMBRYONIC STEM-CELLS; SHORT-LIMBED DWARFISM; HEPARAN-SULFATE; HEMATOPOIETIC STEM; TUMOR SUPPRESSORS; B-LYMPHOPOIESIS; HSPG SYNTHESIS; IN-VITRO; DIFFERENTIATION AB We studied three patients with severe skeletal dysplasia, T cell immunodeficiency, and developmental delay. Whole-exome sequencing revealed homozygous missense mutations affecting exostosin-like 3 (EXTL3), a glycosyltransferase involved in heparan sulfate (HS) biosynthesis. Patient-derived fibroblasts showed abnormal HS composition and altered fibroblast growth factor 2 signaling, which was rescued by overexpression of wild-type EXTL3 cDNA. Interleukin-2-mediated STAT5 phosphorylation in patients' lymphocytes was markedly reduced. Interbreeding of the extl3-mutant zebrafish (box) with Tg(rag2 : green fluorescent protein) transgenic zebrafish revealed defective thymopoiesis, which was rescued by injection of wild-type human EXTL3 RNA. Targeted differentiation of patient-derived induced pluripotent stem cells showed a reduced expansion of lymphohematopoietic progenitor cells and defects of thymic epithelial progenitor cell differentiation. These data identify EXTL3 mutations as a novel cause of severe immune deficiency with skeletal dysplasia and developmental delay and underline a crucial role of HS in thymopoiesis and skeletal and brain development. C1 [Volpi, Stefano; Buoncompagni, Antonella; Martini, Alberto] Ist Giannina Gaslini, Dept Pediat, Unita Operat Pediat 2, I-16148 Genoa, Italy. [Di Rocco, Maja] Ist Giannina Gaslini, Dept Pediat, Unit Rare Dis, I-16148 Genoa, Italy. [Yamazaki, Yasuhiro; Dobbs, Kerry; Notarangelo, Luigi D.] NIAID, Lab Host Def, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Kuehn, Hye Sun; Rosenzweig, Sergio Damian] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Brauer, Patrick M.; Zuniga-Pflucker, Juan Carlos] Univ Toronto, Dept Immunol, Sunnybrook Res Inst, Toronto, ON M5S, Canada. [van Rooijen, Ellen; Hagedorn, Elliott J.; Zon, Leonard] Harvard Med Sch, Stem Cell Program, Boston Childrens Hosp, Boston, MA 02115 USA. [Hayashida, Atsuko; Hayashida, Kazutaka; Park, Pyong Woo] Harvard Med Sch, Div Resp Dis, Boston Childrens Hosp, Boston, MA 02115 USA. [Du, Likun; Felgentreff, Kerstin; de Bruin, Lisa Ott; Capuder, Kelly; Luche, Nicole] Harvard Med Sch, Div Immunol, Boston Childrens Hosp, Boston, MA 02115 USA. [Manis, John] Harvard Med Sch, Dept Lab Med, Boston Childrens Hosp, Boston, MA 02115 USA. [Slavotinek, Anne] Univ Calif San Francisco, Dept Pediat, Div Genet, San Francisco, CA 94143 USA. [Freedman, George; Puck, Jennifer M.] Univ Calif San Francisco, Dept Pediat, San Francisco, CA 94143 USA. [Rivolta, Carlo; Royer-Bertrand, Beryl] Univ Lausanne, Univ Lausanne Hosp, Dept Computat Biol, Unit Med Genet, CH-1015 Lausanne, Switzerland. [Royer-Bertrand, Beryl; Superti-Furga, Andrea] Univ Lausanne, Univ Lausanne Hosp, Div Genet Med, CH-1015 Lausanne, Switzerland. [Bortolomai, Ileana; Marcovecchio, Genni Enza; Bosticardo, Marita] Ist Sci San Raffaele, San Raffaele Telethon Inst Gene Therapy, Ist Ric & Cura Carattere Sci, I-20132 Milan, Italy. [Rath, Prisni] Tata Consultancy Serv Innovat Labs, Hyderabad, Telangana, India. [Giliani, Silvia] Univ Brescia, A Nocivelli Inst Mol Med, I-25123 Brescia, Italy. [Poliani, Pietro Luigi] Univ Brescia, Dept Mol & Translat Med, I-25123 Brescia, Italy. [Imberti, Luisa] Spedali Civil Brescia, Ctr Ric Ematooncol AIL, I-25123 Brescia, Italy. [Poulain, Fabienne E.] Univ South Carolina, Dept Biol Sci, Columbia, SC 29208 USA. [Linhardt, Robert J.] Rensselaer Polytech Inst, Dept Chem & Chem Biol, Troy, NY 12180 USA. [Lee, Hane] Univ Calif Los Angeles, Dept Pathol & Lab Med, Los Angeles, CA 90095 USA. [Bortolomai, Ileana] CNR, Ist Ric Genet & Biomed, Milan Unit, I-20138 Milan, Italy. RP Notarangelo, LD (reprint author), NIAID, Lab Host Def, 9000 Rockville Pike, Bethesda, MD 20892 USA.; Superti-Furga, A (reprint author), Univ Lausanne, Univ Lausanne Hosp, Div Genet Med, CH-1015 Lausanne, Switzerland. EM asuperti@unil.ch; luigi.notarangelo2@nih.gov OI Rivolta, Carlo/0000-0002-0733-9950 FU Telethon Network of Genetic Biobanks [GTB12001]; Intramural Research Program of the National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH); NIAID, NIH [5R21AI113459]; Italian Ministry of Health [PE-2011-02347329]; Swiss National Science Foundation [156260]; National Institute of Neurological Disorders and Stroke, NIH [R00NS083714]; Faculte de Biologie et Medecine of the University of Lausanne; Krembil Foundation; Canada Research Chair in Developmental Immunology FX We thank Drs. Steven E. Brenner, Rajgopal Srinivasan, Uma Sunderam, and the UCLA Clinical Genomics Center Genomic Data Board for reviewing and interpreting WES data and Maurizio Fazio, Julie Perlin, and Anne Robertson for assistance with zebrafish experiments. The Cell Line and DNA Biobank from Patients Affected by Genetic Diseases (Istituto G. Gaslini; Telethon Network of Genetic Biobanks; project no. GTB12001) provided specimens.; This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH) and by a grant from NIAID, NIH (5R21AI113459 to L. D. Notarangelo), a grant from the Italian Ministry of Health (PE-2011-02347329 to S. Giliani and L. D. Notarangelo), a grant from the Swiss National Science Foundation (156260 to C. Rivolta), and a grant from the National Institute of Neurological Disorders and Stroke, NIH (R00NS083714 to F. E. Poulain). A. Superti-Furga is supported by the Faculte de Biologie et Medecine of the University of Lausanne. J.C.Zuniga-Pflucker is supported by the Krembil Foundation and by a Canada Research Chair in Developmental Immunology. NR 55 TC 0 Z9 0 U1 4 U2 4 PU ROCKEFELLER UNIV PRESS PI NEW YORK PA 950 THIRD AVE, 2ND FLR, NEW YORK, NY 10022 USA SN 0022-1007 EI 1540-9538 J9 J EXP MED JI J. Exp. Med. PD MAR PY 2017 VL 214 IS 3 BP 623 EP 637 DI 10.1084/jem.20161525 PG 15 WC Immunology; Medicine, Research & Experimental SC Immunology; Research & Experimental Medicine GA EN2GS UT WOS:000395828600005 PM 28148688 ER PT J AU Lyons, JJ Liu, Y Ma, CA Yu, X O'Connell, MP Lawrence, MG Zhang, Y Karpe, K Zhao, M Siegel, AM Stone, KD Nelson, C Jones, N DiMaggio, T Darnell, DN Mendoza-Caamal, E Orozco, L Hughes, JD McElwee, J Hohman, RJ Frischmeyer-Guerrerio, PA Rothenberg, ME Freeman, AF Holland, SM Milner, JD AF Lyons, J. J. Liu, Y. Ma, C. A. Yu, X. O'Connell, M. P. Lawrence, M. G. Zhang, Y. Karpe, K. Zhao, M. Siegel, A. M. Stone, K. D. Nelson, C. Jones, N. DiMaggio, T. Darnell, D. N. Mendoza-Caamal, E. Orozco, L. Hughes, J. D. McElwee, J. Hohman, R. J. Frischmeyer-Guerrerio, P. A. Rothenberg, M. E. Freeman, A. F. Holland, S. M. Milner, J. D. TI ERBIN deficiency links STAT3 and TGF-beta pathway defects with atopy in humans SO JOURNAL OF EXPERIMENTAL MEDICINE LA English DT Article ID GROWTH-FACTOR-BETA; REGULATORY T-CELLS; EOSINOPHILIC ESOPHAGITIS; NEGATIVE REGULATION; CONNECTIVE-TISSUE; IN-VIVO; MUTATIONS; RECEPTOR; GATA-3; EXPRESSION AB Nonimmunological connective tissue phenotypes in humans are common among some congenital and acquired allergic diseases. Several of these congenital disorders have been associated with either increased TGF-beta activity or impaired STAT3 activation, suggesting that these pathways might intersect and that their disruption may contribute to atopy. In this study, we show that STAT3 negatively regulates TGF-beta signaling via ERBB2-interacting protein (ERBIN), a SMAD anchor for receptor activation and SMAD2/3 binding protein. Individuals with dominant-negative STAT3 mutations (STAT3(mut)) or a loss-of-function mutation in ERBB2IP (ERBB2IP(mut)) have evidence of deregulated TGF-beta signaling with increased regulatory T cells and total FOXP3 expression. These naturally occurring mutations, recapitulated in vitro, impair STAT3-ERBIN-SMAD2/3 complex formation and fail to constrain nuclear pSMAD2/3 in response to TGF-beta. In turn, cell-intrinsic deregulation of TGF-beta signaling is associated with increased functional IL-4R alpha expression on naive lymphocytes and can induce expression and activation of the IL-4/IL-4R alpha/GATA3 axis in vitro. These findings link increased TGF-beta pathway activation in ERBB2IP(mut) and STAT3(mut) patient lymphocytes with increased T helper type 2 cytokine expression and elevated IgE. C1 [Lyons, J. J.; Liu, Y.; Ma, C. A.; Yu, X.; O'Connell, M. P.; Zhang, Y.; Karpe, K.; Siegel, A. M.; Stone, K. D.; Nelson, C.; DiMaggio, T.; Milner, J. D.] NIAID, Genet & Pathogenesis Allergy Sect, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Zhao, M.; Hohman, R. J.] NIAID, Res Technol Branch, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Darnell, D. N.; Freeman, A. F.; Holland, S. M.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Frischmeyer-Guerrerio, P. A.] NIAID, Food Allergy Res Unit, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Lawrence, M. G.] Univ Virginia, Dept Med, Div Asthma Allergy & Immunol, Charlottesville, VA 22903 USA. [Jones, N.] Leidos Biomed Res Inc, Clin Res Directorate CRMP, NCI Campus Frederick, Frederick, MD 21702 USA. [Mendoza-Caamal, E.; Orozco, L.] Natl Inst Genom Med, Mexico City 14610, DF, Mexico. [Hughes, J. D.; McElwee, J.] Merck & Co Inc, Merck Res Labs, Boston, MA 02115 USA. [Rothenberg, M. E.] Cincinnati Childrens Hosp Med Ctr, Dept Pediat, Div Allergy & Immunol, Cincinnati, OH 45229 USA. RP Milner, JD (reprint author), NIAID, Genet & Pathogenesis Allergy Sect, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM jdmilner@niaid.nih.gov FU Intramural Research Programs of the National Institutes of Health (NIH), National Cancer Institute (NCI), Center for Cancer Research; NIAID; NCI, NIH [HHSN261200800001E] FX This research was supported in part by the Intramural Research Programs of the National Institutes of Health (NIH), National Cancer Institute (NCI), Center for Cancer Research, and of the NIAID. This project has been funded in whole or in part with federal funds from the NCI, NIH under contract HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. NR 45 TC 1 Z9 1 U1 0 U2 0 PU ROCKEFELLER UNIV PRESS PI NEW YORK PA 950 THIRD AVE, 2ND FLR, NEW YORK, NY 10022 USA SN 0022-1007 EI 1540-9538 J9 J EXP MED JI J. Exp. Med. PD MAR PY 2017 VL 214 IS 3 BP 669 EP 680 DI 10.1084/jem.20161435 PG 12 WC Immunology; Medicine, Research & Experimental SC Immunology; Research & Experimental Medicine GA EN2GS UT WOS:000395828600008 PM 28126831 ER PT J AU Gansler, DA Huey, ED Pan, JJ Wasserman, E Grafman, JH AF Gansler, David A. Huey, Edward D. Pan, Jessica J. Wasserman, Eric Grafman, Jordan H. TI Assessing the dysexecutive syndrome in dementia SO JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY LA English DT Article ID CONFIRMATORY FACTOR-ANALYSIS; HUMAN CEREBRAL-CORTEX; FRONTOTEMPORAL DEMENTIA; EXECUTIVE FUNCTION; DIAGNOSTIC-CRITERIA; ALZHEIMERS-DISEASE; PROGRESSIVE APHASIA; BEHAVIOR; SCALE; DEGENERATION AB Objective We compared performance on tests of dysexecutive behaviour (DB) and executive function (EF) in patients with behavioural variant frontotemporal dementia (bvFTD), primary progressive aphasia (PPA) and corticobasal syndrome (CBS). Methods Patients diagnosed with bvFTD (n=124), PPA (n=34) and CBS (n=85) were recruited. EF was measured with the Delis-Kaplan Executive Function System (DKEFS: performance based), and DB was measured with the Frontal Systems Behavior Scale (FrSBe: caregiver-report based). Confirmatory factor analysis characterised the relationship between EF and DB, binary logistic regression evaluated the incremental diagnostic utility of the measures and neuroimaging data from 110 patients identified neural correlates. Results EF was lowest and DB was highest in bvFTD participants. EF and DB were distinct but related (r=-0.48). Measures correctly classified 89% of bvFTD from CBS patients and 93% of bvFTD from PPA patients -30% and 13% above base rates (59%, 80%), respectively. All modalities were useful in identifying CBS and PPA, whereas DB alone was useful for identifying bvFTD. EF was uniquely associated with caudal left dorsolateral prefrontal and lateral temporo-parietal cortices. DB was uniquely associated with the cingulate (R>L), right subcallosal and right anterior frontal cortex. EF and DB were associated with the rostral dorsolateral prefrontal cortex bilaterally. Conclusions EF and DB measures displayed criterion and construct validity, had incremental utility at low DB levels (CBS and PPA) and were associated with overlapping and distinct neural correlates. EF and DB procedures can conjointly provide useful diagnostic and descriptive information in identifying and ruling out the dysexecutive syndrome. C1 [Gansler, David A.; Pan, Jessica J.] Suffolk Univ, Dept Psychol, 41 Temple St, Boston, MA 02114 USA. [Huey, Edward D.] Columbia Univ, Dept Psychiat, New York, NY USA. [Huey, Edward D.] Columbia Univ, Dept Neurol, New York, NY USA. [Wasserman, Eric] NINDS, Behav Neurol Unit, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Grafman, Jordan H.] Northwestern Univ, Sch Med, Dept Phys Med & Rehabil, Chicago, IL USA. [Grafman, Jordan H.] Northwestern Univ, Sch Med, Dept Psychiat & Behav Sci, Cognit Neurol, Chicago, IL 60611 USA. [Grafman, Jordan H.] Rehabil Inst Chicago, Cognit Neurosci Lab, Chicago, IL 60611 USA. RP Gansler, DA (reprint author), Suffolk Univ, Dept Psychol, 41 Temple St, Boston, MA 02114 USA. EM dgansler@suffolk.edu FU NINDS FX This study was supported by NINDS intramural funding to JHG. NR 42 TC 0 Z9 0 U1 3 U2 3 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 0022-3050 EI 1468-330X J9 J NEUROL NEUROSUR PS JI J. Neurol. Neurosurg. Psychiatry PD MAR PY 2017 VL 88 IS 3 BP 254 EP 261 DI 10.1136/jnnp-2016-313576 PG 8 WC Clinical Neurology; Psychiatry; Surgery SC Neurosciences & Neurology; Psychiatry; Surgery GA EL3ED UT WOS:000394501500012 PM 27466358 ER PT J AU Kahin, SA Wright, DS Pejavara, A Kim, SA AF Kahin, Sahra A. Wright, Demia S. Pejavara, Anu Kim, Sonia A. TI State-Level Farmers Market Activities: A Review of CDC-Funded State Public Health Actions That Support Farmers Markets SO JOURNAL OF PUBLIC HEALTH MANAGEMENT AND PRACTICE LA English DT Review DE Centers for Disease Control and Prevention; farmers markets; fruits and vegetables; state health departments; state-level ID FOOD DESERTS; FRUIT; COMMUNITIES; PROGRAM AB Context: Introducing farmers markets to underserved areas, or supporting existing farmers markets, can increase access and availability of fruits and vegetables and encourage healthy eating. Since 2003, the Centers for Disease Control and Prevention (CDC)'s Division of Nutrition, Physical Activity, and Obesity (DNPAO) has provided guidance and funding to state health departments (SHDs) to support the implementation of interventions, including activities around farmers markets, to address healthy eating, and improve the access to and availability of fruits and vegetables at state and community levels. Objective: For this project, we identified state-level farmers market activities completed with CDC's DNPAO funding from 2003 to 2013. State-level was defined as actions taken by the state health department that influence or support farmers market work across the state. Design and Participants: We completed an analysis of SHD farmers market activities of 3 DNPAO cooperative agreements from 2003 to 2013: State Nutrition and Physical Activity Programs to Prevent Obesity and Other Chronic Diseases; Nutrition, Physical Activity and Obesity Program; and Communities Putting Prevention to Work. To identify state farmers market activities, data sources for each cooperative agreement were searched using the key words "farm," "market," " produce market," and "produce stand." State data with at least one state-level farmers market action present were then coded for the presence of itemized activities. Results: Across all cooperative agreements, the most common activities identified through analysis included the following: working on existing markets and nutrition assistance benefit programs, supporting community action, and providing training and technical assistance. Common partners were nutrition assistance benefit program offices and state or regional Department of Agriculture or agricultural extension offices. Implications for Policy & Practice: Common farmers market practices and evidence-based activities, such as nutrition assistance benefits programs and land-use policies, can be adopted as methods for farmers market policy and practice work. Conclusion: The activities identified in this study can inform future planning at the state and federal levels on environment, policy, and systems approaches that improve the food environment through farmers markets. C1 [Kahin, Sahra A.; Pejavara, Anu; Kim, Sonia A.] Ctr Dis Control & Prevent, Div Nutr Phys Act & Obes, 4770 Buford Hwy,NE,MS F-77, Atlanta, GA 30341 USA. [Wright, Demia S.] NIEHS, Worker Training Program, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. RP Kahin, SA (reprint author), Ctr Dis Control & Prevent, Div Nutr Phys Act & Obes, 4770 Buford Hwy,NE,MS F-77, Atlanta, GA 30341 USA. EM xfz9@cdc.gov FU CDC FX All authors were full-time CDC staff during the writing of this article. The CDC funds authors' salaries to do this work. NR 22 TC 0 Z9 0 U1 4 U2 4 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1078-4659 EI 1550-5022 J9 J PUBLIC HEALTH MAN JI J. Public Health Manag. Pract. PD MAR-APR PY 2017 VL 23 IS 2 BP 96 EP 103 DI 10.1097/PHH.0000000000000412 PG 8 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EK1WM UT WOS:000393716500007 PM 27798521 ER PT J AU Ashley, PJ Freemer, M Garbe, P Rowson, D AF Ashley, Peter J. Freemer, Michelle Garbe, Paul Rowson, David TI Coordinated Federal Actions Are Needed to Reduce Racial and Ethnic Disparities in Childhood Asthma SO JOURNAL OF PUBLIC HEALTH MANAGEMENT AND PRACTICE LA English DT Editorial Material C1 [Ashley, Peter J.] US Dept Housing & Urban Dev, 451 7th St,SW,Room 8236, Washington, DC 20410 USA. [Freemer, Michelle] NHLBI, Bldg 10, Bethesda, MD 20892 USA. [Garbe, Paul] Ctr Dis Control & Prevent, Atlanta, GA USA. [Rowson, David] US EPA, Washington, DC 20460 USA. RP Ashley, PJ (reprint author), US Dept Housing & Urban Dev, 451 7th St,SW,Room 8236, Washington, DC 20410 USA. EM Peter.J.Ashley@hud.gov NR 4 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1078-4659 EI 1550-5022 J9 J PUBLIC HEALTH MAN JI J. Public Health Manag. Pract. PD MAR-APR PY 2017 VL 23 IS 2 BP 207 EP 209 DI 10.1097/PHH.0000000000000541 PG 3 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EK1WM UT WOS:000393716500025 PM 28121772 ER PT J AU Bennett, PH Magliano, DJ Alberti, KG Zimmet, P AF Bennett, Peter H. Magliano, Dianna J. Alberti, K. George Zimmet, Paul TI Challenges of monitoring global diabetes prevalence Reply SO LANCET DIABETES & ENDOCRINOLOGY LA English DT Editorial Material ID MELLITUS C1 [Bennett, Peter H.] NIH, Phoenix, AZ 85014 USA. [Magliano, Dianna J.] Baker IDI Heart & Diabet Inst, Melbourne, Vic, Australia. [Alberti, K. George] Imperial Coll, St Marys Campus, London, England. [Zimmet, Paul] Monash Univ, Dept Med, Melbourne, Vic, Australia. RP Bennett, PH (reprint author), NIH, Phoenix, AZ 85014 USA. EM pbennett@nih.gov NR 5 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 2213-8587 J9 LANCET DIABETES ENDO JI Lancet Diabetes Endocrinol. PD MAR PY 2017 VL 5 IS 3 BP 162 EP 162 PG 1 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA EN9RZ UT WOS:000396338600008 PM 28235491 ER PT J AU Chowell, G Viboud, C AF Chowell, Gerardo Viboud, Cecile TI Quantifying the fitness of antiviral-resistant influenza strains SO LANCET INFECTIOUS DISEASES LA English DT Editorial Material ID NEURAMINIDASE INHIBITORS; SURVEILLANCE C1 [Chowell, Gerardo] Georgia State Univ, Sch Publ Hlth, Atlanta, GA 30303 USA. [Chowell, Gerardo; Viboud, Cecile] NIH, Div Int Epidemiol & Populat Studies, Fogarty Int Ctr, Bldg 10, Bethesda, MD 20892 USA. RP Chowell, G (reprint author), Georgia State Univ, Sch Publ Hlth, Atlanta, GA 30303 USA.; Chowell, G (reprint author), NIH, Div Int Epidemiol & Populat Studies, Fogarty Int Ctr, Bldg 10, Bethesda, MD 20892 USA. EM gchowell@gsu.edu NR 12 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1473-3099 EI 1474-4457 J9 LANCET INFECT DIS JI Lancet Infect. Dis. PD MAR PY 2017 VL 17 IS 3 BP 250 EP 251 DI 10.1016/S1473-3099(16)30522-9 PG 2 WC Infectious Diseases SC Infectious Diseases GA EL6KX UT WOS:000394732600009 PM 27914854 ER PT J AU Quaglio, G Corbetta, M Karapiperis, T Amunts, K Koroshetz, W Yamamori, T Draghia-Akli, R AF Quaglio, Gianluca Corbetta, Maurizio Karapiperis, Theodoros Amunts, Katrin Koroshetz, Walter Yamamori, Tetsuo Draghia-Akli, Ruxandra TI Understanding the brain through large, multidisciplinary research initiatives SO LANCET NEUROLOGY LA English DT Letter ID NEUROSCIENCE C1 [Quaglio, Gianluca; Karapiperis, Theodoros] European Parliament, European Parliamentary Res Serv, Sci Foresight Unit Sci & Technol Opt Assessment, Brussels, Belgium. [Corbetta, Maurizio] Univ Padua, Padua, Italy. [Corbetta, Maurizio] Washington Univ, Sch Med, St Louis, MO USA. [Amunts, Katrin] Inst Neurosci & Med, INM 1, Julich Res Ctr, Julich, Germany. [Amunts, Katrin] Univ Hosp Dusseldorf, Cecile & Oskar Vogt Brain Res, Dusseldorf, Germany. Human Brain Project, Sci & Infrastruct Board, Vienna, Austria. [Koroshetz, Walter] NINDS, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Koroshetz, Walter] Natl Inst Hlth Brain Initiat, Bethesda, MD USA. [Yamamori, Tetsuo] Riken Brain Sci Inst, Wako, Saitama, Japan. [Yamamori, Tetsuo] Brain MINDS Project, Wako, Saitama, Japan. [Draghia-Akli, Ruxandra] European Commiss, Directorate General Res & Innovat, Brussels, Belgium. RP Quaglio, G (reprint author), European Parliament, European Parliamentary Res Serv, Sci Foresight Unit Sci & Technol Opt Assessment, Brussels, Belgium. EM gianluca.quaglio@europarl.europa.eu FU European Commission FX KA reports grants from the European Commission. All other authors declare no competing interests. The views expressed in this letter are the sole responsibility of the authors and do not necessarily reflect the views of their affiliated organisations. NR 7 TC 0 Z9 0 U1 4 U2 4 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1474-4422 EI 1474-4465 J9 LANCET NEUROL JI Lancet Neurol. PD MAR PY 2017 VL 16 IS 3 BP 183 EP 184 PG 2 WC Clinical Neurology SC Neurosciences & Neurology GA EK4ZC UT WOS:000393935700014 PM 28229889 ER PT J AU Seymour, L Bogaerts, J Perrone, A Ford, R Schwartz, LH Mandrekar, S Lin, NU Litiere, S Dancey, J Chen, A Hodi, FS Therasse, P Hoekstra, OS Shankar, LK Wolchok, JD Ballinger, M Caramella, C de Vries, EGE AF Seymour, Lesley Bogaerts, Jan Perrone, Andrea Ford, Robert Schwartz, Lawrence H. Mandrekar, Sumithra Lin, Nancy U. Litiere, Saskia Dancey, Janet Chen, Alice Hodi, F. Stephen Therasse, Patrick Hoekstra, Otto S. Shankar, Lalitha K. Wolchok, Jedd D. Ballinger, Marcus Caramella, Caroline de Vries, Elisabeth G. E. CA RECIST Working Grp TI iRECIST: guidelines for response criteria for use in trials testing immunotherapeutics SO LANCET ONCOLOGY LA English DT Review ID CELL LUNG-CANCER; IMMUNE-RELATED RESPONSE; SOLID TUMORS; UNTREATED MELANOMA; DOUBLE-BLIND; NIVOLUMAB; IPILIMUMAB; PEMBROLIZUMAB; CARBOPLATIN; COMBINATION AB Tumours respond differently to immunotherapies compared with chemotherapeutic drugs, raising questions about the assessment of changes in tumour burden-a mainstay of evaluation of cancer therapeutics that provides key information about objective response and disease progression. A consensus guideline-iRECIST-was developed by the RECIST working group for the use of modified Response Evaluation Criteria in Solid Tumours (RECIST version 1.1) in cancer immunotherapy trials, to ensure consistent design and data collection, facilitate the ongoing collection of trial data, and ultimate validation of the guideline. This guideline describes a standard approach to solid tumour measurements and definitions for objective change in tumour size for use in trials in which an immunotherapy is used. Additionally, it defines the minimum datapoints required from future trials and those currently in development to facilitate the compilation of a data warehouse to use to later validate iRECIST. An unprecedented number of trials have been done, initiated, or are planned to test new immune modulators for cancer therapy using a variety of modified response criteria. This guideline will allow consistent conduct, interpretation, and analysis of trials of immunotherapies. C1 [Seymour, Lesley; Dancey, Janet] Queens Univ, Canadian Canc Trials Grp, Kingston, ON K7L 3N6, Canada. [Bogaerts, Jan; Litiere, Saskia] EORTC Headquarters, Brussels, Belgium. [Perrone, Andrea] Merck & Co Inc, Translat Med, Kenilworth, NJ USA. [Ford, Robert] Clin Trials Imaging Consulting LLC, Belle Mead, NJ USA. [Schwartz, Lawrence H.] Columbia Univ, Med Ctr, Dept Radiol, New York, NY USA. [Schwartz, Lawrence H.] New York Presbyterian Hosp, New York, NY USA. [Mandrekar, Sumithra] Mayo Clin, Div Biomed Stat & Informat, Rochester, MN USA. [Lin, Nancy U.; Hodi, F. Stephen] Harvard Med Sch, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA USA. [Chen, Alice] NCI, Early Clin Trials Dev Program, Div Canc Treatment & Diag, Bethesda, MD 20892 USA. [Therasse, Patrick] Inst Rech Int Servier, Paris, France. [Hoekstra, Otto S.] Vrije Univ Amsterdam, Dept Radiol & Nucl Med, Med Ctr, Amsterdam, Netherlands. [Shankar, Lalitha K.] NCI, Diagnost Imaging Branch, Bethesda, MD 20892 USA. [Wolchok, Jedd D.] Mem Sloan Kettering Canc Ctr, Dept Med, 1275 York Ave, New York, NY 10021 USA. [Ballinger, Marcus] Weill Cornell Med & Grad Coll, New York, NY USA. [Ballinger, Marcus] Ludwig Inst Canc Res, New York, NY USA. [Ballinger, Marcus] Genentech Inc, 460 Point San Bruno Blvd, San Francisco, CA 94080 USA. [Caramella, Caroline] Gustav Roussy Canc Campus, Dept Radiol, Villejuif, France. [de Vries, Elisabeth G. E.] Univ Med Ctr Groningen, Dept Med Oncol, Groningen, Netherlands. RP Seymour, L (reprint author), Queens Univ, Canadian Canc Trials Grp, Kingston, ON K7L 3N6, Canada. EM lseymour@ctg.queensu.ca FU Canadian Cancer Society Research Institute [021039]; EORTC Cancer Research Fund; National Cancer Institute [5U10-CA11488-45] FX AC and LKS are employees of the National Institutes of Health/National Cancer Institute. This publication was supported by the Canadian Cancer Society Research Institute (grant #021039), the EORTC Cancer Research Fund, and the National Cancer Institute (grant number 5U10-CA11488-45). The contents of this paper were presented in part at the EORTC-NCI-AACR 2016 Meeting (Munich, Germany; Nov 29-Dec 2, 2016). We gratefully acknowledge the thoughtful participation of the following in this initiative: Patricia Keegan (US Food and Drug Administration, Silver Spring, MD, USA); Francesco Pignatti (European Medicine Agency, London, UK); Wendy Hayes (Bristol-Myers Squibb, Princeton, NJ, USA); Eric Rubin (Merck & Co, Kenilworth, NJ, USA). We also received written comments from Darragh Halpenny, Jean-Yves Blay, Florian Lordick, Silke Gillessen, Hirokazu Watanabe, Jose Pablo Maroto Rey, Pietro Quaglino, Howard Kaufman, Denis Lacombe, Corneel Coens, Catherine Fortpied, Jessica Menis, Francisco Vera-Badillo, Jean Powers, Michail Ignatiadis, Eric Gauthier, Michael O'Neal, Caroline Malhaire, Laure Fournier, and Glen Laird. We thank Anouk Funke for her assistance with this manuscript. NR 35 TC 0 Z9 0 U1 1 U2 1 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1470-2045 EI 1474-5488 J9 LANCET ONCOL JI Lancet Oncol. PD MAR PY 2017 VL 18 IS 3 BP E143 EP E152 PG 10 WC Oncology SC Oncology GA EN9UH UT WOS:000396344600018 PM 28271869 ER PT J AU Ng, C Goodenow, M Greenshaw, A Upshall, P Lam, R AF Ng, Chee Goodenow, Maureen Greenshaw, Andrew Upshall, Phil Lam, Raymond TI APEC digital hub for mental health SO LANCET PSYCHIATRY LA English DT Editorial Material C1 [Ng, Chee] Univ Melbourne, Dept Psychiat, Richmond, Vic 3121, Australia. [Ng, Chee] Univ Melbourne, Asia Australia Mental Hlth, Richmond, Vic 3121, Australia. [Goodenow, Maureen] NIH, Off AIDS Res, Bldg 10, Bethesda, MD 20892 USA. Univ Alberta, Dept Psychiat, Edmonton, AB, Canada. [Upshall, Phil] Mood Disorders Soc Canada, Guelph, ON, Canada. [Lam, Raymond] Univ British Columbia, Dept Psychiat, Vancouver, BC, Canada. RP Ng, C (reprint author), Univ Melbourne, Dept Psychiat, Richmond, Vic 3121, Australia.; Ng, C (reprint author), Univ Melbourne, Asia Australia Mental Hlth, Richmond, Vic 3121, Australia. NR 1 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 2215-0374 J9 LANCET PSYCHIAT JI Lancet Psychiatry PD MAR PY 2017 VL 4 IS 3 BP E3 EP E4 PG 3 WC Psychiatry SC Psychiatry GA EN9VD UT WOS:000396346800003 PM 28236959 ER PT J AU Goldberg, RB Temprosa, M Mele, L Orchard, T Mather, K Bray, G Horton, E Kitabchi, A Krakoff, J Marcovina, S Perreault, L White, N AF Goldberg, Ronald B. Temprosa, Marinella Mele, Lisa Orchard, Trevor Mather, Kieren Bray, George Horton, Edward Kitabchi, Abbas Krakoff, Jonathan Marcovina, Santica Perreault, Leigh White, Neil CA Diabet Prevention Program Res Grp TI Change in adiponectin explains most of the change in HDL particles induced by lifestyle intervention but not metformin treatment in the diabetes prevention program (Vol 65, pg 764, 2016) SO METABOLISM-CLINICAL AND EXPERIMENTAL LA English DT Correction C1 [Goldberg, Ronald B.] Univ Miami, Diabet Res Inst, 1450 NW 10th Ave,Suite 2054, Miami, FL 33136 USA. [Temprosa, Marinella; Mele, Lisa] George Washington Univ, Biostat Ctr, 6110 Execut Blvd,Suite 750, Rockville, MD 20852 USA. [Orchard, Trevor] Univ Pittsburgh, 3512 Fifth Ave, Pittsburgh, PA 15213 USA. [Mather, Kieren] Indiana Univ, Dept Med, 541 Clin Dr CL 365, Indianapolis, IN 46202 USA. [Bray, George] Louisiana State Univ, Pennington Biomed Res Ctr, 6400 Perkins Rd, Baton Rouge, LA 70808 USA. [Horton, Edward] Joslin Diabet Ctr, Sect Clin Behav & Outcomes Res, One Joslin Pl, Boston, MA 02215 USA. [Horton, Edward] Harvard Med Sch, Dept Med, 25 Shattuck St, Boston, MA 02115 USA. [Kitabchi, Abbas] Univ Tennessee, Div Endocrinol, Hlth Sci Ctr, 920 Madison Ave Suite 300A, Memphis, TN 38163 USA. [Krakoff, Jonathan] NIDDK, 1550 E Indian Sch Rd, Phoenix, AZ 85014 USA. [Marcovina, Santica] Univ Washington, Northwest Lipid Res Labs, 401 Queen Anne Ave, North Seattle, WA 98109 USA. [Perreault, Leigh] Univ Colorado, Div Endocrinol Metab & Diabet, Dept Med, Anschutz Med Campus,12801 E 17th Ave, Aurora, CO 80045 USA. [White, Neil] Washington Univ, Sch Med, 660 South Euclid Ave, St Louis, MO 63110 USA. RP Goldberg, RB (reprint author), George Washington Univ, Biostat Ctr, Diabet Prevent Program Coordinating Ctr, 6110 Execut Blvd,Suite 750, Rockville, MD 20852 USA. EM dppmail@bsc.gwu.edu NR 1 TC 0 Z9 0 U1 1 U2 1 PU W B SAUNDERS CO-ELSEVIER INC PI PHILADELPHIA PA 1600 JOHN F KENNEDY BOULEVARD, STE 1800, PHILADELPHIA, PA 19103-2899 USA SN 0026-0495 EI 1532-8600 J9 METABOLISM JI Metab.-Clin. Exp. PD MAR PY 2017 VL 68 BP 184 EP 186 DI 10.1016/j.metabol.2016.11.007 PG 3 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA EK4WF UT WOS:000393927600018 PM 28065437 ER PT J AU Zarate, CA Machado-Vieira, R AF Zarate, C. A., Jr. Machado-Vieira, R. TI Ketamine: translating mechanistic discoveries into the next generation of glutamate modulators for mood disorders SO MOLECULAR PSYCHIATRY LA English DT Editorial Material ID RAPID-ACTING ANTIDEPRESSANTS; RESISTANT BIPOLAR DEPRESSION; GLYCOGEN-SYNTHASE KINASE-3; D-ASPARTATE ANTAGONIST; AMPA RECEPTOR; NMDA ANTAGONISTS; DOUBLE-BLIND; INHIBITION; TRIAL; METABOLITES C1 [Zarate, C. A., Jr.; Machado-Vieira, R.] NIMH, Expt Therapeut & Pathophysiol Branch, Intramural Res Program, NIH, Bethesda, MD 20892 USA. RP Zarate, CA (reprint author), NIMH, Expt Therapeut & Pathophysiol Branch, Intramural Res Program, NIH, Bethesda, MD 20892 USA. EM zaratec@mail.nih.gov FU Intramural Research Program at the National Institute of Mental Health; National Institutes of Health (IRP-NIMH-NIH) [ZIA MH002857]; NARSAD Independent Investigator Award; Brain and Behavior Mood Disorders Research Award FX Funding for this work was supported by the Intramural Research Program at the National Institute of Mental Health, National Institutes of Health (IRP-NIMH-NIH; ZIA MH002857), by a NARSAD Independent Investigator Award to Dr Zarate Jr, and by a Brain and Behavior Mood Disorders Research Award to Dr Zarate Jr. We thank the 7SE research unit and staff for their support. NR 38 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1359-4184 EI 1476-5578 J9 MOL PSYCHIATR JI Mol. Psychiatr. PD MAR PY 2017 VL 22 IS 3 BP 324 EP 327 DI 10.1038/mp.2016.249 PG 4 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA EL3RQ UT WOS:000394537100001 PM 28070122 ER PT J AU Trampush, JW Yang, MLZ Yu, J Knowles, E Davies, G Liewald, DC Starr, JM Djurovic, S Melle, I Sundet, K Christoforou, A Reinvang, I DeRosse, P Lundervold, AJ Steen, VM Espeseth, T Raikkonen, K Widen, E Palotie, A Eriksson, JG Giegling, I Konte, B Roussos, P Giakoumaki, S Burdick, KE Payton, A Ollier, W Horan, M Chiba-Falek, O Attix, DK Need, AC Cirulli, ET Voineskos, AN Stefanis, NC Avramopoulos, D Hatzimanolis, A Arking, DE Smyrnis, N Bilder, RM Freimer, NA Cannon, TD London, E Poldrack, RA Sabb, FW Congdon, E Conley, ED Scult, MA Dickinson, D Straub, RE Donohoe, G Morris, D Corvin, A Gill, M Hariri, AR Weinberger, DR Pendleton, N Bitsios, P Rujescu, D Lahti, J Le Hellard, S Keller, MC Andreassen, OA Deary, IJ Glahn, DC Malhotra, AK Lencz, T AF Trampush, J. W. Yang, M. L. Z. Yu, J. Knowles, E. Davies, G. Liewald, D. C. Starr, J. M. Djurovic, S. Melle, I. Sundet, K. Christoforou, A. Reinvang, I. DeRosse, P. Lundervold, A. J. Steen, V. M. Espeseth, T. Raikkonen, K. Widen, E. Palotie, A. Eriksson, J. G. Giegling, I. Konte, B. Roussos, P. Giakoumaki, S. Burdick, K. E. Payton, A. Ollier, W. Horan, M. Chiba-Falek, O. Attix, D. K. Need, A. C. Cirulli, E. T. Voineskos, A. N. Stefanis, N. C. Avramopoulos, D. Hatzimanolis, A. Arking, D. E. Smyrnis, N. Bilder, R. M. Freimer, N. A. Cannon, T. D. London, E. Poldrack, R. A. Sabb, F. W. Congdon, E. Conley, E. D. Scult, M. A. Dickinson, D. Straub, R. E. Donohoe, G. Morris, D. Corvin, A. Gill, M. Hariri, A. R. Weinberger, D. R. Pendleton, N. Bitsios, P. Rujescu, D. Lahti, J. Le Hellard, S. Keller, M. C. Andreassen, O. A. Deary, I. J. Glahn, D. C. Malhotra, A. K. Lencz, T. TI GWAS meta-analysis reveals novel loci and genetic correlates for general cognitive function: a report from the COGENT consortium SO MOLECULAR PSYCHIATRY LA English DT Article ID GENOME-WIDE ASSOCIATION; SCOTTISH MENTAL SURVEY; UK BIOBANK N=112151; EDUCATIONAL-ATTAINMENT; INTELLECTUAL DISABILITY; DEVELOPMENTAL DELAY; EXECUTIVE FUNCTION; HUMAN INTELLIGENCE; PROVIDES INSIGHTS; ABILITY AB The complex nature of human cognition has resulted in cognitive genomics lagging behind many other fields in terms of gene discovery using genome-wide association study (GWAS) methods. In an attempt to overcome these barriers, the current study utilized GWAS meta-analysis to examine the association of common genetic variation (similar to 8M single-nucleotide polymorphisms (SNP) with minor allele frequency >= 1%) to general cognitive function in a sample of 35 298 healthy individuals of European ancestry across 24 cohorts in the Cognitive Genomics Consortium (COGENT). In addition, we utilized individual SNP lookups and polygenic score analyses to identify genetic overlap with other relevant neurobehavioral phenotypes. Our primary GWAS meta-analysis identified two novel SNP loci (top SNPs: rs76114856 in the CENPO gene on chromosome 2 and rs6669072 near LOC105378853 on chromosome 1) associated with cognitive performance at the genome-wide significance level (P<5x10(-8)). Gene-based analysis identified an additional three Bonferroni-corrected significant loci at chromosomes 17q21.31, 17p13.1 and 1p13.3. Altogether, common variation across the genome resulted in a conservatively estimated SNP heritability of 21.5% (s.e. = 0.01%) for general cognitive function. Integration with prior GWAS of cognitive performance and educational attainment yielded several additional significant loci. Finally, we found robust polygenic correlations between cognitive performance and educational attainment, several psychiatric disorders, birth length/weight and smoking behavior, as well as a novel genetic association to the personality trait of openness. These data provide new insight into the genetics of neurocognitive function with relevance to understanding the pathophysiology of neuropsychiatric illness. C1 [Trampush, J. W.; Yu, J.; DeRosse, P.; Lencz, T.] Zucker Hillside Hosp, Div Psychiat Res, 75-59 263rd St, Glen Oaks, NY 11004 USA. [Yang, M. L. Z.] Inst Mental Hlth, Singapore, Singapore. [Yu, J.; DeRosse, P.; Malhotra, A. K.; Lencz, T.] Feinstein Inst Med Res, Ctr Psychiat Neurosci, Manhasset, NY USA. [Knowles, E.] Yale Univ, Sch Med, Dept Psychiat, New Haven, CT USA. [Davies, G.; Starr, J. M.; Deary, I. J.] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland. [Davies, G.; Liewald, D. C.; Deary, I. J.] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland. [Starr, J. M.] Univ Edinburgh, Alzheimer Scotland Dementia Res Ctr, Edinburgh, Midlothian, Scotland. [Djurovic, S.] Univ Bergen, Oslo Univ Hosp, Dept Med Genet, Oslo, Norway. [Djurovic, S.; Melle, I.; Christoforou, A.; Le Hellard, S.] Univ Bergen, KG Jebsen Ctr Psychosis Res, NORMENT, Bergen, Norway. [Melle, I.; Sundet, K.; Espeseth, T.] Oslo Univ Hosp, Div Mental Hlth & Addict, Oslo, Norway. [Sundet, K.; Espeseth, T.] Univ Oslo, Dept Psychol, Oslo, Norway. [Christoforou, A.] Haukeland Hosp, Ctr Med Genet & Mol Med, Dr Einar Martens Res Grp Biol Psychiat, Bergen, Norway. [Lundervold, A. J.] Univ Bergen, Dept Biol & Med Psychol, Bergen, Norway. [Raikkonen, K.] Univ Helsinki, Inst Behav Sci, Helsinki, Finland. [Widen, E.; Palotie, A.] Univ Helsinki, Inst Mol Med Finland FIMM, Helsinki, Finland. [Palotie, A.] Wellcome Trust Genome Campus, Wellcome Trust Sanger Inst, Cambridge, England. [Palotie, A.] Univ Helsinki, Dept Med Genet, Helsinki, Finland. [Palotie, A.] Univ Cent Hosp, Helsinki, Finland. [Eriksson, J. G.] Natl Inst Hlth & Welf, Helsinki, Finland. [Eriksson, J. G.] Univ Helsinki, Dept Gen Practice & Primary Hlth Care, Helsinki, Finland. [Eriksson, J. G.] Univ Helsinki, Unit Gen Practice, Cent Hosp, Helsinki, Finland. [Eriksson, J. G.] Folkhalsan Res Ctr, Helsinki, Finland. [Giegling, I.; Konte, B.; Rujescu, D.] Martin Luther Univ Halle Wittenberg, Dept Psychiat, Halle, Germany. [Roussos, P.; Burdick, K. E.] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA. [Roussos, P.; Burdick, K. E.] Icahn Sch Med Mt Sinai, Dept Genet & Genom Sci, New York, NY 10029 USA. [Roussos, P.; Burdick, K. E.] Icahn Sch Med Mt Sinai, Inst Multiscale Biol, New York, NY 10029 USA. [Roussos, P.] James J Peters VA Med Ctr, Mental Illness Res Educ & Clin Ctr VISN 3, Bronx, NY USA. [Giakoumaki, S.] Univ Crete, Dept Psychol, Rethimnon, Greece. [Payton, A.] Univ Manchester, Manchester Acad Hlth Sci Ctr, Manchester Ctr Audiol & Deafness, Manchester, Lancs, England. [Payton, A.] Univ Manchester, Sch Biol Sci, Div Evolut & Genom Sci, Manchester, Lancs, England. [Ollier, W.] Univ Manchester, Inst Populat Hlth, Ctr Integrated Genom Med Res, Manchester, Lancs, England. [Horan, M.] Univ Manchester, Inst Brain Behav & Mental Hlth, Manchester Med Sch, Manchester, Lancs, England. [Chiba-Falek, O.; Attix, D. K.] Duke Univ, Med Ctr, Div Neurol, Bryan Alzheimers Dis Res Ctr, Durham, NC 27710 USA. [Chiba-Falek, O.; Attix, D. K.] Duke Univ, Med Ctr, Ctr Genom & Computat Biol, Durham, NC USA. [Attix, D. K.] Duke Univ, Med Ctr, Dept Neurol Psychiat & Behav Sci, Div Med Psychol, Durham, NC USA. [Need, A. C.] Imperial Coll, Dept Med, Div Brain Sci, London, England. [Cirulli, E. T.] Duke Univ, Sch Med, Ctr Appl Genom & Precis Med, Durham, NC USA. [Voineskos, A. N.] Univ Toronto, Ctr Addict & Mental Hlth, Campbell Family Mental Hlth Inst, Toronto, ON, Canada. [Stefanis, N. C.; Hatzimanolis, A.] Univ Athens, Sch Med, Eginit Hosp, Dept Psychiat, Athens, Greece. [Stefanis, N. C.; Hatzimanolis, A.] Univ Mental Hlth Res Inst, Athens, Greece. [Stefanis, N. C.; Hatzimanolis, A.] Theodor Theohari Cozzika Fdn, Neurobiol Res Inst, Athens, Greece. [Avramopoulos, D.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA. [Avramopoulos, D.; Arking, D. E.] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA. [Avramopoulos, D.; Arking, D. E.] Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD USA. [Bilder, R. M.; Freimer, N. A.; London, E.] Univ Calif Los Angeles, Semel Inst Neurosci & Human Behav, Los Angeles, CA USA. [Cannon, T. D.] Yale Univ, Dept Psychol, New Haven, CT USA. [Poldrack, R. A.] Stanford Univ, Dept Psychol, Palo Alto, CA 94304 USA. [Sabb, F. W.] Univ Oregon, Robert & Beverly Lewis Ctr Neuroimaging, Eugene, OR 97403 USA. [Conley, E. D.] 23andMe Inc, Mountain View, CA USA. [Scult, M. A.; Hariri, A. R.] Duke Univ, Neurogenet Lab, Dept Psychol & Neurosci, Durham, NC USA. [Congdon, E.; Dickinson, D.] NIMH, Clin & Translat Neurosci Branch, Intramural Res Program, NIH, Bethesda, MD 20892 USA. [Straub, R. E.; Weinberger, D. R.] Johns Hopkins Univ, Lieber Inst Brain Dev, Med Campus, Baltimore, MD USA. [Donohoe, G.] Natl Univ Ireland, Dept Psychol, Galway, Ireland. [Morris, D.; Corvin, A.; Gill, M.] Trinity Coll Dublin, Trinity Coll Inst Neurosci, Neuropsychiat Genet Res Grp, Dept Psychiat, Dublin, Ireland. [Bitsios, P.] Univ Crete, Fac Med, Dept Psychiat & Behav Sci, Iraklion, Greece. [Rujescu, D.; Lahti, J.] Univ Helsinki, Helsinki Collegium Adv Studies, Helsinki, Finland. [Keller, M. C.] Univ Colorado, Inst Behav Genet, Boulder, CO 80309 USA. [Andreassen, O. A.] Univ Oslo, Inst Clin Med, Oslo, Norway. [Malhotra, A. K.; Lencz, T.] Hofstra Northwell Sch Med, Dept Psychiat, Hempstead, NY USA. RP Lencz, T (reprint author), Zucker Hillside Hosp, Div Psychiat Res, 75-59 263rd St, Glen Oaks, NY 11004 USA. EM tlencz@northwell.edu OI Sundet, Kjetil/0000-0003-2850-3673; Payton, Antony/0000-0003-0335-152X FU National Institutes of Health [R01MH079800, P50 MH080173, R01 MH080912, K23 MH077807, K01 MH085812, R01 DA033369, R01 AG049789]; Research Council of Norway; South-East Norway Health Authority; KG Jebsen Foundation; Research Council of Norway [154313/V50, 177458/V50]; Bergen Research Foundation; University of Bergen; Research Council of Norway (FUGE, Psykisk Helse); Helse Vest RHF and Dr Einar Martens Fund; Academy of Finland; Finnish Diabetes Research Society; Folkhalsan Research Foundation; Novo Nordisk Foundation; Finska Lakaresallskapet; Signe and Ane Gyllenberg Foundation; University of Helsinki; Ministry of Education; Ahokas Foundation; Emil Aaltonen Foundation; Disconnected Mind project; UK Biotechnology and Biological Sciences Research Council (BBSRC) [BB/F019394/1]; Medical Research Council; Biotechnology and Biological Sciences Research Council [MR/K026992/1]; CAMH Foundation; Canadian Institutes of Health Research; National Institute of Mental Health of the National Institutes of Health [K01MH098126]; Ellison Medical Foundation New Scholar award [AG-NS-0441-08]; NIH [UL1DE019580, PL1MH083271, RL1MH083269, RL1DA024853, PL1NS062410]; National Institute of Mental Health research [R01MH085018, R01MH092515]; National Science Foundation Graduate Research Fellowship; Science Foundation Ireland [12/IP/1670, 12/IP/1359, 08/IN. 1/B1916] FX This work has been supported by grants from the National Institutes of Health (R01MH079800 and P50 MH080173 to AKM; R01 MH080912 to DCG; K23 MH077807 to KEB; K01 MH085812 to MCK). Data collection for the TOP cohort was supported by the Research Council of Norway, South-East Norway Health Authority and KG Jebsen Foundation. The NCNG study was supported by Research Council of Norway Grants 154313/V50 and 177458/V50. The NCNG GWAS was financed by grants from the Bergen Research Foundation, the University of Bergen, the Research Council of Norway (FUGE, Psykisk Helse), Helse Vest RHF and Dr Einar Martens Fund. The Helsinki Birth Cohort Study has been supported by grants from the Academy of Finland, the Finnish Diabetes Research Society, Folkhalsan Research Foundation, Novo Nordisk Foundation, Finska Lakaresallskapet, Signe and Ane Gyllenberg Foundation, University of Helsinki, Ministry of Education, Ahokas Foundation, Emil Aaltonen Foundation. For the LBC1936 cohort, phenotype collection was supported by The Disconnected Mind project. Genotyping was funded by the UK Biotechnology and Biological Sciences Research Council (BBSRC grant no. BB/F019394/1). The work was undertaken by The University of Edinburgh Centre for Cognitive Ageing and Cognitive Epidemiology, part of the cross council Lifelong Health and Wellbeing Initiative, which is funded by the Medical Research Council and the Biotechnology and Biological Sciences Research Council (MR/K026992/1). The CAMH work was supported by the CAMH Foundation and the Canadian Institutes of Health Research. The Duke Cognition Cohort (DCC) acknowledges K Linney, JM McEvoy, P Hunt, V Dixon, T Pennuto, K Cornett, D Swilling, L Phillips, M Silver, J Covington, N Walley, J Dawson, H Onabanjo, P Nicoletti, A Wagoner, J Elmore, L Bevan, J Hunkin and R Wilson for recruitment and testing of subjects. DCC also acknowledges the Ellison Medical Foundation New Scholar award AG-NS-0441-08 for partial funding of this study as well as the National Institute of Mental Health of the National Institutes of Health under award number K01MH098126. The UCLA Consortium for Neuropsychiatric Phenomics (CNP) study acknowledges the following sources of funding from the NIH: Grants UL1DE019580 and PL1MH083271 (RMB), RL1MH083269 (TDC), RL1DA024853 (EL) and PL1NS062410. The ASPIS study was supported by National Institute of Mental Health research grants R01MH085018 and R01MH092515 to Dr Dimitrios Avramopoulos. Support for the Duke Neurogenetics Study was provided the National Institutes of Health (R01 DA033369 and R01 AG049789 to ARH) and by a National Science Foundation Graduate Research Fellowship to MAS. Recruitment, genotyping and analysis of the TCD healthy control samples were supported by Science Foundation Ireland (grants 12/IP/1670, 12/IP/1359 and 08/IN. 1/B1916). NR 73 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1359-4184 EI 1476-5578 J9 MOL PSYCHIATR JI Mol. Psychiatr. PD MAR PY 2017 VL 22 IS 3 BP 336 EP 345 DI 10.1038/mp.2016.244 PG 10 WC Biochemistry & Molecular Biology; Neurosciences; Psychiatry SC Biochemistry & Molecular Biology; Neurosciences & Neurology; Psychiatry GA EL3RQ UT WOS:000394537100003 PM 28093568 ER PT J AU Haidar, G Zerbe, CS Cheng, M Zelazny, AM Holland, SM Sheridan, KR AF Haidar, Ghady Zerbe, Christa S. Cheng, Michelle Zelazny, Adrian M. Holland, Steven M. Sheridan, Kathleen R. TI Phellinus species: An emerging cause of refractory fungal infections in patients with X-linked chronic granulomatous disease SO MYCOSES LA English DT Review DE basidiomycota; chronic granulomatous disease; internal transcribed spacer; Phellinus ID INVASIVE ASPERGILLOSIS; TROPICALIS; IDENTIFICATION; OSTEOMYELITIS AB Aspergillus spp. are a leading cause of mortality in chronic granulomatous disease (CGD), but other fungi have emerged in the era of mould prophylaxis. Of these, Phellinus spp. are an under-recognised cause of invasive fungal infections (IFIs) in CGD, and data on their presentation and management are scarce. We present a patient with CGD who developed disseminated IFI involving the lungs and brain. Surgical specimens grew a basidiomycete which was disregarded as a contaminant. After three months of progressive disease despite antifungals, he was diagnosed with Phellinus tropicalis by internal transcribed spacer (ITS) sequencing. He improved with amphotericin B and isavuconazole but required haematopoietic stem cell transplantation (HSCT). We review the literature on Phellinus infections in CGD and conclude that: (i) these infections emerge on mould-active prophylaxis and are indolent; (ii) they typically cause locally destructive disease but can disseminate; (iii) diagnosis is delayed and requires molecular methods; (iv) amphotericin B is most active in vitro; and (v) treatment is protracted and requires surgery and possibly HSCT. In conclusion, Phellinus spp. are emerging pathogens in CGD. Every effort should be made to establish the diagnosis of non-Aspergillus IFIs in patients with CGD by sending tissue specimens for molecular diagnostics. C1 [Haidar, Ghady; Sheridan, Kathleen R.] Univ Pittsburgh, Dept Med, Div Infect Dis, Med Ctr, Pittsburgh, PA USA. [Zerbe, Christa S.; Holland, Steven M.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Cheng, Michelle] Univ Pittsburgh, Med Ctr, Dept Med, Pittsburgh, PA USA. [Zelazny, Adrian M.] NIH, Dept Lab Med, Microbiol Serv, Bldg 10, Bethesda, MD 20892 USA. [Cheng, Michelle] Univ Calif Davis, Dept Dermatol, Davis, CA 95616 USA. RP Sheridan, KR (reprint author), Univ Pittsburgh, Med Ctr, Div Infect Dis, Pittsburgh, PA 15260 USA. EM sheridank@upmc.edu NR 19 TC 0 Z9 0 U1 1 U2 1 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0933-7407 EI 1439-0507 J9 MYCOSES JI Mycoses PD MAR PY 2017 VL 60 IS 3 BP 155 EP 160 DI 10.1111/myc.12573 PG 6 WC Dermatology; Mycology SC Dermatology; Mycology GA EK5DM UT WOS:000393947100002 PM 27781311 ER PT J AU Lerch, JP van der Kouwe, AJW Raznahan, A Pans, T Johansen-Berg, H Miller, KL Smith, SM Fischl, B Sotiropoulos, SN AF Lerch, Jason P. van der Kouwe, Andre J. W. Raznahan, Armin Pans, Tomas Johansen-Berg, Heidi Miller, Karla L. Smith, Stephen M. Fischl, Bruce Sotiropoulos, Stamatios N. TI Studying neuroanatomy using MRI SO NATURE NEUROSCIENCE LA English DT Review ID VOXEL-BASED MORPHOMETRY; HUMAN CONNECTOME PROJECT; BRAIN WHITE-MATTER; NEURITE ORIENTATION DISPERSION; AXON DIAMETER DISTRIBUTION; HUMAN CORTICAL DEVELOPMENT; DIFFUSION-WEIGHTED MRI; PULSED-FIELD GRADIENT; HUMAN CEREBRAL-CORTEX; IN-VIVO AB The study of neuroanatomy using imaging enables key insights into how our brains function, are shaped by genes and environment, and change with development, aging and disease. Developments in MRI acquisition, image processing and data modeling have been key to these advances. However, MRI provides an indirect measurement of the biological signals we aim to investigate. Thus, artifacts and key questions of correct interpretation can confound the readouts provided by anatomical MRI. In this review we provide an overview of the methods for measuring macro- and mesoscopic structure and for inferring microstructural properties; we also describe key artifacts and confounds that can lead to incorrect conclusions. Ultimately, we believe that, although methods need to improve and caution is required in interpretation, structural MRI continues to have great promise in furthering our understanding of how the brain works. C1 [Lerch, Jason P.] Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON, Canada. [Lerch, Jason P.] Univ Toronto, Dept Med Biophys, Toronto, ON, Canada. [van der Kouwe, Andre J. W.; Fischl, Bruce] Massachusetts Gen Hosp, Dept Radiol, Athinoula A Martinos Ctr Biomed Res, Charlestown, MA USA. [van der Kouwe, Andre J. W.; Fischl, Bruce] Harvard Med Sch, Charlestown, MA USA. [van der Kouwe, Andre J. W.; Fischl, Bruce] Massachusetts Gen Hosp, Dept Radiol, Boston, MA USA. [van der Kouwe, Andre J. W.; Fischl, Bruce] Harvard Med Sch, Boston, MA USA. [Raznahan, Armin] NIMH, Dev Neurogen Unit, Child Psychiat Branch, Bethesda, MD 20892 USA. [Pans, Tomas] Rotman Res Inst, Toronto, ON, Canada. [Pans, Tomas] Univ Toronto, Dept Psychol, Toronto, ON, Canada. [Pans, Tomas] Univ Toronto, Dept Psychiat, Toronto, ON, Canada. [Pans, Tomas] Child Mind Inst, Ctr Developing Brain, New York, NY USA. [Johansen-Berg, Heidi; Miller, Karla L.; Smith, Stephen M.; Sotiropoulos, Stamatios N.] Univ Oxford, Oxford Ctr Funct MRI Brain FMRIB, Oxford, MS USA. [Fischl, Bruce] MIT, Comp Sci & Artificial Intelligence Lab, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Sotiropoulos, Stamatios N.] Univ Nottingham, Sch Med, Sir Peter Mansfield Imaging Ctr, Nottingham NG7 2RD, England. RP Lerch, JP (reprint author), Hosp Sick Children, Program Neurosci & Mental Hlth, Toronto, ON, Canada.; Lerch, JP (reprint author), Univ Toronto, Dept Med Biophys, Toronto, ON, Canada. EM jason.lerch@utoronto.ca FU Ontario Brain Institutes' POND grant FX We thank C. Hammill for his assistance in the preparation of Figures 2 and 3, which contain data from The Ontario Brain Institutes' POND grant (to J.P.L.), and we thank L. Wald (Massachusetts General Hospital) for providing the images in Figure 6. Figure 1 contains data from R0IMH085772-01A1 (to T.P.). NR 176 TC 0 Z9 0 U1 8 U2 8 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1097-6256 EI 1546-1726 J9 NAT NEUROSCI JI Nat. Neurosci. PD MAR PY 2017 VL 20 IS 3 BP 314 EP 326 DI 10.1038/nn.4501 PG 13 WC Neurosciences SC Neurosciences & Neurology GA EL9DU UT WOS:000394920400005 PM 28230838 ER PT J AU Edwards, NJ Tejeda, HA Pignatelli, M Zhang, SL McDevitt, RA Wu, J Bass, CE Bettler, B Morales, M Bonci, A AF Edwards, Nicholas J. Tejeda, Hugo A. Pignatelli, Marco Zhang, Shiliang McDevitt, Ross A. Wu, Jocelyn Bass, Caroline E. Bettler, Bernhard Morales, Marisela Bonci, Antonello TI Circuit specificity in the inhibitory architecture of the VTA regulates cocaine-induced behavior SO NATURE NEUROSCIENCE LA English DT Article ID VENTRAL TEGMENTAL AREA; MIDBRAIN DOPAMINE NEURONS; RAT SUBSTANTIA-NIGRA; GABA(B) RECEPTORS; SYNAPTIC INPUTS; REWARD; LOCALIZATION; ACTIVATION; NUCLEUS; TRANSMISSION AB Afferent inputs to the ventral tegmental area (VTA) control reward-related behaviors through regulation of dopamine neuron activity. The nucleus accumbens (NAc) provides one of the most prominent projections to the VTA; however, recent studies have provided conflicting evidence regarding the function of these inhibitory inputs. Using optogenetics, cell-specific ablation, whole cell patch clamp and immuno-electron microscopy, we found that NAc inputs synapsed directly onto dopamine neurons, preferentially activating GABA(B) receptors. GABAergic inputs from the NAc and local VTA GABA neurons were differentially modulated and activated separate receptor populations in dopamine neurons. Genetic deletion of GABA(B) receptors from dopamine neurons in adult mice did not affect general or morphine-induced locomotor activity, but markedly increased cocaine-induced locomotion. Collectively, our findings demonstrate notable selectivity in the inhibitory architecture of the VTA and suggest that long-range GABAergic inputs to dopamine neurons fundamentally regulate behavioral responses to cocaine. C1 [Edwards, Nicholas J.; Tejeda, Hugo A.; Pignatelli, Marco; Zhang, Shiliang; McDevitt, Ross A.; Wu, Jocelyn; Morales, Marisela; Bonci, Antonello] NIDA, Intramural Res Program, US Natl Inst Hlth, Baltimore, MD 21224 USA. [Bass, Caroline E.] Univ Buffalo, Dept Pharmacol & Toxicol, Buffalo, NY USA. [Bettler, Bernhard] Univ Basel, Pharmazentrum, Dept Biomed, Basel, Switzerland. [Bonci, Antonello] Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21218 USA. [Bonci, Antonello] Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA. RP Bonci, A (reprint author), NIDA, Intramural Res Program, US Natl Inst Hlth, Baltimore, MD 21224 USA.; Bonci, A (reprint author), Johns Hopkins Univ, Sch Med, Solomon H Snyder Dept Neurosci, Baltimore, MD 21218 USA.; Bonci, A (reprint author), Johns Hopkins Univ, Sch Med, Dept Psychiat, Baltimore, MD 21205 USA. EM antonello.bonci@nih.gov FU Intramural Research Program at the National Institute on Drug Abuse FX We thank members of the Bonci lab for insightful discussions and careful reading of the manuscript. We thank the NIDA Histology Core for help with in situ hybridization experiments, B. Sadacca for help with statistical analysis, K. Deisseroth (Stanford University) for the generation of optogenetic constructs, and B. Lowell (Beth Israel Deaconess Medical Center) for Dyn-Cre and VGAT-Cre transgenic mice. This work was supported by the Intramural Research Program at the National Institute on Drug Abuse. NR 50 TC 1 Z9 1 U1 5 U2 5 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1097-6256 EI 1546-1726 J9 NAT NEUROSCI JI Nat. Neurosci. PD MAR PY 2017 VL 20 IS 3 BP 438 EP 448 DI 10.1038/nn.4482 PG 11 WC Neurosciences SC Neurosciences & Neurology GA EL9DU UT WOS:000394920400021 PM 28114294 ER PT J AU Duffy, AG Greten, TF AF Duffy, Austin G. Greten, Tim F. TI Regorafenib as second-line therapy in hepatocellular carcinoma SO NATURE REVIEWS GASTROENTEROLOGY & HEPATOLOGY LA English DT Editorial Material ID SORAFENIB AB Drug development in hepatocellular carcinoma had essentially stalled since 2008 when sorafenib was established as the modest standard of care. Now, a positive result in a phase III study evaluating regorafenib challenges us to weigh its clinical significance as well as its real-world benefits and potential harms. C1 [Duffy, Austin G.; Greten, Tim F.] NCI, Gastrointestinal Malignancy Sect, Thorac & Gastrointestinal Oncol Branch, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. RP Greten, TF (reprint author), NCI, Gastrointestinal Malignancy Sect, Thorac & Gastrointestinal Oncol Branch, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. EM tim.greten@nih.gov NR 9 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 1759-5045 EI 1759-5053 J9 NAT REV GASTRO HEPAT JI Nat. Rev. Gastroenterol. Hepatol. PD MAR PY 2017 VL 14 IS 3 BP 141 EP 142 DI 10.1038/nrgastro.2017.7 PG 2 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA EN1YA UT WOS:000395805200003 PM 28174418 ER PT J AU Prescott, JB Marzi, A Safronetz, D Robertson, SJ Feldmann, H Best, SM AF Prescott, Joseph B. Marzi, Andrea Safronetz, David Robertson, Shelly J. Feldmann, Heinz Best, Sonja M. TI Immunobiology of Ebola and Lassa virus infections SO NATURE REVIEWS IMMUNOLOGY LA English DT Review ID HUMAN DENDRITIC CELLS; DOUBLE-STRANDED-RNA; HEMORRHAGIC-FEVER; VP35 PROTEIN; WEST-AFRICA; NONHUMAN-PRIMATES; IMMUNE-RESPONSES; SIERRA-LEONE; INTERFERON ANTAGONISM; NEUTRALIZING ANTIBODY AB Two of the most important contemporary emerging viruses that affect human health in Africa are Ebola virus (EBOV) and Lassa virus (LASV). The 2013-2016 West African outbreak of EBOV was responsible for more than 11,000 deaths, primarily in Guinea, Sierra Leone and Liberia. LASV is constantly emerging in these and surrounding West African countries, with an estimate of more than 500,000 cases of Lassa fever, and approximately 5,000 deaths, annually. Both EBOV and LASV are zoonotic, and human infection often results in a severe haemorrhagic fever in both cases. However, the contribution of specific immune responses to disease differs between EBOV and LASV. This Review examines innate and adaptive immune responses to these viruses with the goal of delineating responses that are associated with protective versus pathogenic outcomes. C1 [Prescott, Joseph B.; Marzi, Andrea; Robertson, Shelly J.; Feldmann, Heinz; Best, Sonja M.] NIAID, Virol Lab, Rocky Mt Labs, NIH, 903 S Fourth St, Hamilton, MT 59840 USA. [Safronetz, David] Publ Hlth Agcy Canada, Zoonot Dis & Special Pathogens, 1015 Arlington St, Winnipeg, MB R3E 3R2, Canada. [Safronetz, David; Feldmann, Heinz] Univ Manitoba, Dept Med Microbiol, 745 Bannatyne Ave, Winnipeg, MB R3E 0J9, Canada. RP Feldmann, H; Best, SM (reprint author), NIAID, Virol Lab, Rocky Mt Labs, NIH, 903 S Fourth St, Hamilton, MT 59840 USA.; Feldmann, H (reprint author), Univ Manitoba, Dept Med Microbiol, 745 Bannatyne Ave, Winnipeg, MB R3E 0J9, Canada. EM feldmannh@niaid.nih.gov; sbest@niaid.nih.gov FU Division of Intramural Research, National Institutes of Allergy and Infectious Diseases, US National Institutes of Health FX This work was supported by the Division of Intramural Research, National Institutes of Allergy and Infectious Diseases, US National Institutes of Health. NR 140 TC 0 Z9 0 U1 5 U2 5 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1474-1733 EI 1474-1741 J9 NAT REV IMMUNOL JI Nat. Rev. Immunol. PD MAR PY 2017 VL 17 IS 3 BP 195 EP 207 DI 10.1038/nri.2016.138 PG 13 WC Immunology SC Immunology GA EN2GI UT WOS:000395827600004 PM 28111475 ER PT J AU Chirenje, ZM Gundacker, HM Richardson, B Rabe, L Gaffoor, Z Nair, G Mirembe, BG Piper, JM Hillier, S Marrazzo, J AF Chirenje, Zvavahera Mike Gundacker, Holly M. Richardson, Barbra Rabe, Lorna Gaffoor, Zakir Nair, Gonasagrie (Lulu) Mirembe, Brenda Gati Piper, Jeanna M. Hillier, Sharon Marrazzo, Jeanne TI Risk Factors for Incidence of Sexually Transmitted Infections Among Women in a Human Immunodeficiency Virus Chemoprevention Trial: VOICE (MTN-003) SO SEXUALLY TRANSMITTED DISEASES LA English DT Article ID PELVIC-INFLAMMATORY-DISEASE; CHLAMYDIA-TRACHOMATIS; HIV-INFECTION; SOUTH-AFRICA; SERVICES; HEALTH; TRANSMISSION; GONORRHEA AB Background: In sub-Saharan Africa, there are limited data on the incidence of sexually transmitted infections (STIs) among women, largely because routine screening for asymptomatic infection is not performed. We conducted a secondary analysis to measure STI incidence rates and determine risk factors for new STI acquisition among women enrolled in the VOICE trial. Methods: We analyzed data from 4843 women screened for chlamydia, gonorrhoea, syphilis, and trichomonas infection at baseline, annually, at interim visits when clinically indicated and at their study termination visit. Risk reduction counseling and condoms were provided throughout the trial. Results: Twenty percent of evaluable participants had one or more curable STIs at baseline. Over 5660 person-years at risk (PYAR) of observation, incidence rates were 13.8%(95% confidence interval [CI], 12.7-14.8) PYAR for chlamydia, 3.5% (95% CI, 3.0-4.1) PYAR gonorrhea, 0.1% (95% CI, 0.6-1.1) PYAR syphilis, and 6.6% (95% CI, 5.8-7.2) PYAR trichomoniasis. South African sites had the highest incidence of chlamydia. The Uganda site had the highest incidence of gonorrhoea and syphilis, and Zimbabwe the lowest incidence overall. The majority of these cases were diagnosed at a routine scheduled testing visit. In multivariate analysis, positive baseline STI, younger than 25 years, being unmarried, and some alcohol consumption were associated with acquiring a new STI. Conclusions: We observed high rates of STIs during follow up among women in the VOICE study. Women living in human immunodeficiency virus endemic countries should be screened for common STIs. C1 [Chirenje, Zvavahera Mike] Univ Zimbabwe Univ Calif San Francisco Res Progra, Harare, Zimbabwe. [Gundacker, Holly M.] Fred Hutchinson Canc Res Ctr, SCHARP, 1124 Columbia St, Seattle, WA 98104 USA. [Richardson, Barbra] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Rabe, Lorna; Hillier, Sharon] Magee Womens Res Inst, Pittsburgh, PA USA. [Gaffoor, Zakir] MRC, HIV Prevent Res Unit, Durban, South Africa. [Nair, Gonasagrie (Lulu)] Univ KwaZulu Natal, CAPRISA, Durban, South Africa. [Mirembe, Brenda Gati] MU JHU Res Collaborat, Kampala, Uganda. [Piper, Jeanna M.] NIAID, Div Aids, US Natl Inst Hlth, Bethesda, MD 20892 USA. [Hillier, Sharon] Univ Pittsburgh, Pittsburgh, PA USA. [Marrazzo, Jeanne] Univ Alabama Birmingham, Birmingham, AL USA. RP Chirenje, ZM (reprint author), UZ UCSF Collaborat Res Programme, 15 Philips Rd, Harare, Zimbabwe. EM chirenje@uz-ucsf.co.zw FU National Institute of Allergy and Infectious Diseases [UM1AI068633, UM1AI068615, UM1AI106707]; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Mental Health of the U.S. National Institutes of Health FX The VOICE study (VOICE ClinicalTrials.gov number, NCT00705679) was supported by MTN. MTN is funded by the National Institute of Allergy and Infectious Diseases (UM1AI068633, UM1AI068615, UM1AI106707), with co-funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Institute of Mental Health, all components of the U.S. National Institutes of Health. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 21 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0148-5717 EI 1537-4521 J9 SEX TRANSM DIS JI Sex. Transm. Dis. PD MAR PY 2017 VL 44 IS 3 BP 135 EP 140 DI 10.1097/OLQ.0000000000000568 PG 6 WC Infectious Diseases SC Infectious Diseases GA EL1CX UT WOS:000394359200001 PM 28178109 ER PT J AU Altan-Bonnett, N AF Altan-Bonnett, Nihal TI Lipid Tales of Viral Replication and Transmission SO TRENDS IN CELL BIOLOGY LA English DT Review ID RNA VIRUS-REPLICATION; HOST RETICULON PROTEINS; 4-KINASE III-BETA; PHOSPHATIDYLINOSITOL 4-PHOSPHATE; PLASMA-MEMBRANE; IN-VITRO; EXTRACELLULAR VESICLES; CELLULAR MEMBRANES; PHOSPHATIDYLSERINE; AUTOPHAGY AB Positive-strand RNA viruses are the largest group of RNA viruses on Earth and cellular membranes are critical for all aspects of their life cycle, from entry and replication to exit. In particular, membranes serve as platforms for replication and as carriers to transmit these viruses to other cells, the latter either as an envelope surrounding a single virus or as the vesicle containing a population of viruses. Notably, many animal and human viruses appear to induce and exploit phosphatidylinositol 4-phosphate/cholesterol-enriched membranes for replication, whereas many plant and insect-vectored animal viruses utilize phosphatidylethanolamine/cholesterol-enriched membranes for the same purpose; and phosphatidylserine-enriched membrane carriers are widely used by both single and populations of viruses for transmission. Here I discuss the implications for viral pathogenesis and therapeutic development of this remarkable convergence on specific membrane lipid blueprints for replication and transmission. C1 [Altan-Bonnett, Nihal] NHLBI, Lab Host Pathogen Dynam, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Altan-Bonnett, N (reprint author), NHLBI, Lab Host Pathogen Dynam, NIH, Bldg 10, Bethesda, MD 20892 USA. EM nihal.altan-bonnet@nih.gov FU Intramural NIH HHS [Z99 HL999999] NR 99 TC 0 Z9 0 U1 3 U2 3 PU ELSEVIER SCIENCE LONDON PI LONDON PA 84 THEOBALDS RD, LONDON WC1X 8RR, ENGLAND SN 0962-8924 J9 TRENDS CELL BIOL JI Trends Cell Biol. PD MAR PY 2017 VL 27 IS 3 SI SI BP 201 EP 213 DI 10.1016/j.tcb.2016.09.011 PG 13 WC Cell Biology SC Cell Biology GA EN2NR UT WOS:000395847700004 PM 27838086 ER PT J AU Belenko, S Knight, D Wasserman, GA Dennis, ML Wiley, T Taxman, FS Oser, C Dembo, R Robertson, AA Sales, J AF Belenko, Steven Knight, Danica Wasserman, Gail A. Dennis, Michael L. Wiley, Tisha Taxman, Faye S. Oser, Carrie Dembo, Richard Robertson, Angela A. Sales, Jessica TI The Juvenile Justice Behavioral Health Services Cascade: A new framework for measuring unmet substance use treatment services needs among adolescent offenders SO JOURNAL OF SUBSTANCE ABUSE TREATMENT LA English DT Article DE Substance abuse treatment; Juvenile justice; Delinquent youth; Barriers to treatment access; Continuum of services; Evidence-based practices ID ALCOHOL-USE DISORDERS; ABUSE TREATMENT; ADDICTION TREATMENT; CRIMINAL-JUSTICE; DRUG COURT; HIV CARE; COMORBIDITY; YOUTH; RISK; ENGAGEMENT AB Overview: Substance use and substance use disorders are highly prevalent among youth under juvenile justice (JJ) supervision, and related to delinquency, psychopathology, social problems, risky sex and sexually transmitted infections, and health problems. However, numerous gaps exist in the identification of behavioral health (BH) problems and in the subsequent referral, initiation and retention in treatment for youth in community justice settings. This reflects both organizational and systems factors, including coordination between justice and BH agencies. Methods and results: This paper presents a new framework, the Juvenile Justice Behavioral Health Services Cascade ("Cascade"), for measuring unmet substance use treatment needs to illustrate how the cascade approach can be useful in understanding service delivery issues and identifying strategies to improve treatment engagement and outcomes for youth under community JJ supervision. We discuss the organizational and systems barriers for linking delinquent youth to BH services, and explain how the Cascade can help understand and address these barriers. We provide a detailed description of the sequential steps and measures of the Cascade, and then offer an example of its application from the Juvenile Justice Translational Research on Interventions for Adolescents in the Legal System project (JJ-TRIALS), a multi-site research cooperative funded by the National Institute on Drug Abuse. Conclusion: As illustrated with substance abuse treatment, the Cascade has potential for informing and guiding efforts to improve behavioral health service linkages for adolescent offenders, developing and testing interventions and policies to improve interagency and cross-systems coordination, and informing the development of measures and interventions for improving the implementation of treatment in complex multisystem service settings. (C) 2017 Elsevier Inc. All rights reserved. C1 [Belenko, Steven] Temple Univ, 1115 Polett Walk, Philadelphia, PA 19122 USA. [Knight, Danica] Texas Christian Univ, 3034 Sandage Ave, Ft Worth, TX 76129 USA. [Wasserman, Gail A.] Columbia Univ, 1051 Riverside Dr,Unit 78, New York, NY 10032 USA. [Dennis, Michael L.] Chestnut Hlth Syst, 448 Wylie Dr, Normal, IL 61701 USA. [Wiley, Tisha] NIDA, 6001 Execut Blvd,Room 5191, Bethesda, MD 20892 USA. [Taxman, Faye S.] George Mason Univ, 4087 Univ Dr,4100,MSN 6D3, Fairfax, VA 22030 USA. [Oser, Carrie] Univ Kentucky, 1531 Patterson Off Tower, Lexington, KY 40506 USA. [Dembo, Richard] Univ S Florida, 4202 E Fowler Ave, Tampa, FL 33620 USA. [Robertson, Angela A.] Mississippi State Univ, 1 Res Blvd,Suite 103, Starkville, MS 39759 USA. [Sales, Jessica] Emory Univ, Rollins Sch Publ Hlth, 1518 Clifton Rd,Room 570, Atlanta, GA 30322 USA. RP Belenko, S (reprint author), Temple Univ, 1115 Polett Walk, Philadelphia, PA 19122 USA. EM sbelenko@temple.edu; d.knight@tcu.edu; wassermg@nyspi.columbia.edu; mdennis@chestnut.org; wileytr@nida.nih.gov; ftaxman@gmu.edu; Carrie.oser@uky.edu; rdembo@usf.edu; Angela.robertson@ssrc.msstate.edu; jmcderm@emory.edu OI Dennis, Michael/0000-0002-2580-5345 FU Juvenile Justice Translational Research on Interventions for Adolescents in the Legal System project (JJ-TRIALS); National Institute on Drug Abuse (NIDA), National Institutes of Health (NIH); Chestnut Health Systems [U01DA036221]; Columbia University [U01DA036226]; Emory University [U01DA036233]; Mississippi State University [U01DA036176]; Temple University [U01DA036225]; Texas Christian University [U01DA036224]; University of Kentucky [U01DA036158] FX This study was funded under the Juvenile Justice Translational Research on Interventions for Adolescents in the Legal System project (JJ-TRIALS) cooperative agreement, funded by the National Institute on Drug Abuse (NIDA), National Institutes of Health (NIH). The authors gratefully acknowledge the collaborative contributions of NIDA and support from the following grant awards: Chestnut Health Systems (U01DA036221); Columbia University (U01DA036226); Emory University (U01DA036233); Mississippi State University (U01DA036176); Temple University (U01DA036225); Texas Christian University (U01DA036224); and University of Kentucky (U01DA036158). The NIDA Science Officer on this project is Tisha Wiley. The contents of this publication are solely the responsibility of the authors and do not necessarily represent the official views of the NIDA, NIH, or the participating universities or juvenile justice systems. NR 84 TC 0 Z9 0 U1 5 U2 5 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0740-5472 J9 J SUBST ABUSE TREAT JI J. Subst. Abus. Treat. PD MAR PY 2017 VL 74 BP 80 EP 91 DI 10.1016/j.jsat.2016.12.012 PG 12 WC Psychology, Clinical; Substance Abuse SC Psychology; Substance Abuse GA EK2CG UT WOS:000393734400012 PM 28132705 ER PT J AU de Sousa, RT Loch, AA Carvalho, AF Brunoni, AR Haddad, MR Henter, ID Zarate, CA Machado-Vieira, R AF de Sousa, Rafael T. Loch, Alexandre A. Carvalho, Andre F. Brunoni, Andre R. Haddad, Marie Reine Henter, Ioline D. Zarate, Carlos A., Jr. Machado-Vieira, Rodrigo TI Genetic Studies on the Tripartite Glutamate Synapse in the Pathophysiology and Therapeutics of Mood Disorders SO NEUROPSYCHOPHARMACOLOGY LA English DT Review ID MAJOR DEPRESSIVE DISORDER; BIPOLAR AFFECTIVE-DISORDER; GENOME-WIDE ASSOCIATION; STAR-ASTERISK-D; CHINESE HAN POPULATION; 3 GRIN2B POLYMORPHISMS; RECEPTOR GENE; ANTIDEPRESSANT TREATMENT; FUNCTIONAL POLYMORPHISM; FLUVOXAMINE RESPONSE AB Both bipolar disorder (BD) and major depressive disorder (MDD) have high morbidity and share a genetic background. Treatment options for these mood disorders are currently suboptimal for many patients; however, specific genetic variables may be involved in both pathophysiology and response to treatment. Agents such as the glutamatergic modulator ketamine are effective in treatment-resistant mood disorders, underscoring the potential importance of the glutamatergic system as a target for improved therapeutics. Here we review genetic studies linking the glutamatergic system to the pathophysiology and therapeutics of mood disorders. We screened 763 original genetic studies of BD or MDD that investigated genes encoding targets of the pathway/mediators related to the so-called tripartite glutamate synapse, including pre- and post-synaptic neurons and glial cells; 60 papers were included in this review. The findings suggest the involvement of glutamate-related genes in risk for mood disorders, treatment response, and phenotypic characteristics, although there was no consistent evidence for a specific gene. Target genes of high interest included GRIA3 and GRIK2 (which likely play a role in emergent suicidal ideation after antidepressant treatment), GRIK4 (which may influence treatment response), and GRM7 (which potentially affects risk for mood disorders). There was stronger evidence that glutamate-related genes influence risk for BD compared with MDD. Taken together, the studies show a preliminary relationship between glutamate-related genes and risk for mood disorders, suicide, and treatment response, particularly with regard to targets on metabotropic and ionotropic receptors. C1 [de Sousa, Rafael T.; Henter, Ioline D.; Zarate, Carlos A., Jr.; Machado-Vieira, Rodrigo] NIMH, Expt Therapeut & Pathophysiol Branch, NIH, Ctr Clin, 10 Ctr Dr,Room 2-D39C, Bethesda, MD 20892 USA. [de Sousa, Rafael T.; Loch, Alexandre A.; Brunoni, Andre R.; Machado-Vieira, Rodrigo] Univ Sao Paulo, Inst & Dept Psychiat, Neurosci Lab, LIM 27, Sao Paulo, Brazil. [Carvalho, Andre F.] Univ Fed Ceara, Translat Psychiat Res Grp, Fac Med, Fortaleza, Ceara, Brazil. [Carvalho, Andre F.] Univ Fed Ceara, Dept Clin Med, Fac Med, Fortaleza, Ceara, Brazil. [Haddad, Marie Reine] NICHHD, Sect Translat Neurosci, NIH, Bethesda, MD 20892 USA. [Machado-Vieira, Rodrigo] Univ Sao Paulo, Ctr Interdisciplinary Res Appl Neurosci NAPN, Sao Paulo, Brazil. RP de Sousa, RT (reprint author), NIMH, Expt Therapeut & Pathophysiol Branch, NIH, Ctr Clin, 10 Ctr Dr,Room 2-D39C, Bethesda, MD 20892 USA. EM rafael.desousa@nih.gov RI Loch, Alexandre/C-8526-2011; OI Loch, Alexandre/0000-0002-0006-8107; Russowsky Brunoni, Andre/0000-0002-6310-3571; MACHADO-VIEIRA, RODRIGO/0000-0002-4830-1190 FU Intramural Research Program at the National Institute of Mental Health, National Institutes of Health (IRP-NIMH-NIH) [ZIA MH002857]; NARSAD Independent Investigator; Brain & Behavior Mood Disorders Research Award FX Funding for this work was supported by the Intramural Research Program at the National Institute of Mental Health, National Institutes of Health (IRP-NIMH-NIH; ZIA MH002857), by a NARSAD Independent Investigator to Dr Zarate, and by a Brain & Behavior Mood Disorders Research Award to Dr Zarate. Dr Zarate is listed as a co-inventor on a patent for the use of, ketamine and its metabolites in major depression. He has assigned his rights in the patent to the US government but will share a percentage of any royalties that may be received by the government. The remaining authors declare no conflict of interest. NR 95 TC 1 Z9 1 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0893-133X EI 1740-634X J9 NEUROPSYCHOPHARMACOL JI Neuropsychopharmacology PD MAR PY 2017 VL 42 IS 4 BP 787 EP 800 DI 10.1038/npp.2016.149 PG 14 WC Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA EK1ZC UT WOS:000393725600002 PM 27510426 ER PT J AU Hui, WF Betoko, A Savant, JD Abraham, AG Greenbaum, LA Warady, B Moxey-Mims, MM Furth, SL AF Hui, Wun Fung Betoko, Aisha Savant, Jonathan D. Abraham, Alison G. Greenbaum, Larry A. Warady, Bradley Moxey-Mims, Marva M. Furth, Susan L. TI Assessment of dietary intake of children with chronic kidney disease SO PEDIATRIC NEPHROLOGY LA English DT Article DE Dietary assessment; Nutrient intake; Children; Chronic kidney disease ID FOOD FREQUENCY QUESTIONNAIRE; PRESCHOOL-CHILDREN; SALT INTAKE; GROWTH; REPRODUCIBILITY; ADOLESCENTS; PHOSPHORUS; OBESITY; WEIGHT; ENERGY AB Our aim was to characterize the nutrient intake of children with chronic kidney disease (CKD) relative to recommended intake levels. We conducted a cross-sectional study of dietary intake assessed by Food Frequency Questionnaire (FFQ) in The North American Chronic Kidney Disease in Children (CKiD) prospective cohort study. Nutrient intake was analyzed to estimate the daily consumption levels of various nutrients and compared with national guidelines for intake. There were 658 FFQs available for analysis; 69.9 % of respondents were boys, with a median age [Interquartile range (IQR)] of 11 years (8-15). Median daily sodium, potassium, and phosphorus intake was 3089 mg (2294-4243), 2384 mg (1804-3076), and 1206 mg (894-1612) respectively. Sodium and phosphorus consumptions were higher than recommended in all age groups. Caloric intake decreased with dropping glomerular filtration rate (GFR) (p = 0.003). The median daily caloric intakes were 1307 kcal in male children 2-3 years old, 1875 kcal in children 4-8 years old, 1923 kcal in those 9-13 years old, and 2427 kcal in those 14-18 years old. Respective levels for girls were 1467 kcal, 1736 kcal, 1803 kcal, and 2281 kcal. Median protein intake exceeded recommended levels in all age groups, particularly among younger participants. Younger children were more likely than older children to exceed the recommended intakes for phosphorus (p < 0.001) and the age-specific recommended caloric intake (p < 0.001). Macronutrient distribution (carbohydrate:fat:protein) was consistent with recommendation. Children in the CKiD cohort consumed more sodium, phosphorus, protein, and calories than recommended. The gap between actual consumption and recommendations indicates a need for improved nutritional counseling and monitoring. C1 [Hui, Wun Fung; Savant, Jonathan D.; Furth, Susan L.] Childrens Hosp Philadelphia, Dept Pediat, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA. [Betoko, Aisha; Abraham, Alison G.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. [Greenbaum, Larry A.] Emory Univ, Atlanta, GA 30322 USA. [Greenbaum, Larry A.] Childrens Healthcare Atlanta, Atlanta, GA USA. [Warady, Bradley] Childrens Mercy Hosp, Div Pediat Nephrol, Kansas City, MO 64108 USA. [Moxey-Mims, Marva M.] Natl Inst Diabet & Digest & Kidney Dis, NIH, Bethesda, MD USA. RP Furth, SL (reprint author), Childrens Hosp Philadelphia, Dept Pediat, 34th St & Civ Ctr Blvd, Philadelphia, PA 19104 USA. EM furths@email.chop.edu OI Betoko, Aisha/0000-0003-1245-8257 FU National Institute of Diabetes and Digestive and Kidney Diseases; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung and Blood Institute [U01-DK-66143, U01-DK-66174, U01DK-082194, U01-DK-66116] FX National Institute of Diabetes and Digestive and Kidney Diseases, with additional funding from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Heart, Lung and Blood Institute (grants U01-DK-66143, U01-DK-66174, U01DK-082194, and U01-DK-66116). NR 39 TC 0 Z9 0 U1 3 U2 3 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0931-041X EI 1432-198X J9 PEDIATR NEPHROL JI Pediatr. Nephrol. PD MAR PY 2017 VL 32 IS 3 BP 485 EP 494 DI 10.1007/s00467-016-3491-5 PG 10 WC Pediatrics; Urology & Nephrology SC Pediatrics; Urology & Nephrology GA EK2MC UT WOS:000393760400015 PM 27687620 ER PT J AU Thanos, PK Kim, R Delis, F Rocco, MJ Cho, J Volkow, ND AF Thanos, Panayotis K. Kim, Ronald Delis, Foteini Rocco, Mark J. Cho, Jacob Volkow, Nora D. TI Effects of chronic methamphetamine on psychomotor and cognitive functions and dopamine signaling in the brain SO BEHAVIOURAL BRAIN RESEARCH LA English DT Article DE Chronic; Methamphetamine; Dopamine; Behavior; Brain; Reward deficiency syndrome; Positron emission tomography ID TRANSPORTER COMPLEX-FORMATION; IMPAIRS RECOGNITION MEMORY; PLACEBO-CONTROLLED TRIAL; OBJECT RECOGNITION; RAT-BRAIN; NUCLEUS-ACCUMBENS; D2 RECEPTORS; ABSTINENT METHAMPHETAMINE; NEUROTRANSMITTER RELEASE; BEHAVIORAL-RESPONSES AB Methamphetamine (MA) studies in animals usually involve acute, binge, or short-term exposure to the drug. However, addicts take substantial amounts of MA for extended periods of time. Here we wished to study the effects of MA exposure on brain and behavior, using an animal model analogous to this pattern of MA intake. MA doses, 4 and 8 mg/kg/day, were based on previously reported average daily freely available MA self-administration levels. We examined the effects of 16 week MA treatment on psychomotor and cognitive function in the rat using open field and novel object recognition tests and we studied the adaptations of the dopaminergic system, using in vitro and in vivo receptor imaging. We show that chronic MA treatment, at doses that correspond to the average daily freely available self-administration levels in the rat, disorganizes open field activity, impairs alert exploratory behavior and anxiety-like state, and downregulates dopamine transporter in the striatum. Under these treatment conditions, dopamine terminal functional integrity in the nucleus accumbens is also affected. In addition, lower dopamine D1 receptor binding density, and, to a smaller degree, lower dopamine D2 receptor binding density were observed. Potential mechanisms related to these alterations are discussed. (C) 2016 Published by Elsevier B.V. C1 [Thanos, Panayotis K.; Kim, Ronald; Rocco, Mark J.; Cho, Jacob] Univ Buffalo, Res Inst Addict, Behav Neuropharmacol & Neuroimaging Lab Addict, Buffalo, NY 14203 USA. [Delis, Foteini; Volkow, Nora D.] Univ Ioannina, Sch Med, Dept Pharmacol, Ioannina 45100, Greece. [Volkow, Nora D.] NIAAA, Lab Neuroimaging, Intramural Program, Bethesda, MD 20892 USA. RP Thanos, PK (reprint author), 1021 Main St, Buffalo, NY 14203 USA. EM pthanos@ria.buffalo.edu FU Research Foundation of New York FX This work was supported by the Research Foundation of New York. The authors have no competing financial interests to declare. NR 94 TC 0 Z9 0 U1 8 U2 8 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0166-4328 EI 1872-7549 J9 BEHAV BRAIN RES JI Behav. Brain Res. PD MAR 1 PY 2017 VL 320 BP 282 EP 290 DI 10.1016/j.bbr.2016.12.010 PG 9 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA EJ5FV UT WOS:000393244100032 PM 27993694 ER PT J AU Halladay, LR Blair, HT AF Halladay, Lindsay R. Blair, Hugh T. TI Prefrontal infralimbic cortex mediates competition between excitation and inhibition of body movements during pavlovian fear conditioning SO JOURNAL OF NEUROSCIENCE RESEARCH LA English DT Article DE fear conditioning; freezing; flight; fear expression; defensive; RGD ID:2308852 ID DORSOLATERAL PERIAQUEDUCTAL GRAY; BEHAVIORAL FLEXIBILITY; LATERAL AMYGDALA; NUCLEUS-ACCUMBENS; DISSOCIABLE ROLES; DEFENSE REACTIONS; PRELIMBIC CORTEX; AVERSIVE STIMULI; EXTINCTION; RAT AB The infralimbic subregion of the prefrontal cortex (IL) is broadly involved in behavioral flexibility, risk assessment, and outcome reinforcement. In aversive conditioning tasks, the IL has been implicated in fear extinction and in mediating transitions between Pavlovian and instrumental responses. Here we examine the role of the IL in mediating transitions between two competing Pavlovian fear responses, conditioned motor inhibition (CMI) and conditioned motor excitation (CME). Rats were trained to fear an auditory conditioned stimulus (CS) by pairing it with periorbital shock to one eyelid (the unconditioned stimulus [US]). Trained animals exhibited CMI responses (movement suppression) to the CS when they had not recently encountered the US (>24 hr), but, after recent encounters with the US (<5 min), the CS evoked CME responses (turning in circles away from anticipated shock). Animals then received bilateral infusions of muscimol or picrotoxin to inactivate or hyperactivate the IL, respectively. Neither drug reliably affected CMI responses, but there was a bidirectional effect on CME responses; inactivation of the IL attenuated CME responses, whereas hyperactivation potentiated CME responses. These results provide evidence that activation of the IL may promote behavioral strategies that involve mobilizing the body and suppress strategies that involve immobilizing the body. (c) 2016 Wiley Periodicals, Inc. C1 [Halladay, Lindsay R.; Blair, Hugh T.] Univ Calif Los Angeles, Dept Psychol, Los Angeles, CA USA. [Halladay, Lindsay R.] NIAAA, NIH, Bethesda, MD USA. RP Halladay, LR (reprint author), 5625 Fishers Lane,Room 2N09, Rockville, MD 20852 USA. EM lindsay.halladay@nih.gov FU National Institutes of Health [R01 MH073700, 5 T32 NS058280-03] FX Contract grant sponsor: National Institutes of Health; Contract grant numbers: R01 MH073700 (to H.T.B.); Contract grant number: 5 T32 NS058280-03 (to L.R.H.) NR 57 TC 1 Z9 1 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0360-4012 EI 1097-4547 J9 J NEUROSCI RES JI J. Neurosci. Res. PD MAR PY 2017 VL 95 IS 3 BP 853 EP 862 DI 10.1002/jnr.23736 PG 10 WC Neurosciences SC Neurosciences & Neurology GA EJ8DC UT WOS:000393453800005 PM 26997207 ER PT J AU Carlin, JL Jain, S Gizewski, E Wan, TC Tosh, DK Xiao, CY Auchampach, JA Jacobson, KA Gavrilova, O Reitman, ML AF Carlin, Jesse Lea Jain, Shalini Gizewski, Elizabeth Wan, Tina C. Tosh, Dilip K. Xiao, Cuiying Auchampach, John A. Jacobson, Kenneth A. Gavrilova, Oksana Reitman, Marc L. TI Hypothermia in mouse is caused by adenosine A(1) and A(3) receptor agonists and AMP via three distinct mechanisms SO NEUROPHARMACOLOGY LA English DT Article DE Hypothermia; Adenosine; A(1)AR; A(3)AR; AMP; Torpor ID ADIPOSE-TISSUE THERMOGENESIS; BODY-TEMPERATURE; SPECIES-DIFFERENCES; DAILY TORPOR; ISCHEMIA/REPERFUSION INJURY; NEUROPATHIC PAIN; A(2A) RECEPTORS; SYRIAN-HAMSTERS; MAMMALIAN BRAIN; METABOLIC-RATE AB Small mammals have the ability to enter torpor, a hypothermic, hypometabolic state, allowing impressive energy conservation. Administration of adenosine or adenosine 5'-monophosphate (AMP) can trigger a hypothermic, torpor-like state. We investigated the mechanisms for hypothermia using telemetric monitoring of body temperature in wild type and receptor knock out (Adoral(-/-), Adora3(-/-)) mice. Confirming prior data, stimulation of the A(3) adenosine receptor (AR) induced hypothermia via peripheral mast cell degranulation, histamine release, and activation of central histamine H-1 receptors. In contrast, A(1)AR agonists and AMP both acted centrally to cause hypothermia. Commonly used, selective A1AR agonists, including N-6-cyclopentyladenosine (CPA), N-6-cyclohexyladenosine (CHA), and MRS5474, caused hypothermia via both A(1)AR and A(3)AR when given intraperitoneally. Intracerebroventricular dosing, low peripheral doses of CI-ENBA [(+/-)-5'-chloro-5'-deoxy-N-6-endo-norbornyladenosine], or using Adora3(-/-) mice allowed selective stimulation of A(1)AR. AMP-stimulated hypothermia can occur independently of A(1)AR, A(3)AR, and mast cells. A(1)AR and A(3)AR agonists and AMP cause regulated hypothermia that was characterized by a drop in total energy expenditure, physical inactivity, and preference for cooler environmental temperatures, indicating a reduced body temperature set point. Neither A(1)AR nor A(3)AR was required for fasting-induced torpor. A(1)AR and A(3)AR agonists and AMP trigger regulated hypothermia via three distinct mechanisms. Published by Elsevier Ltd. C1 [Carlin, Jesse Lea; Xiao, Cuiying; Reitman, Marc L.] Natl Inst Diabet & Digest & Kidney Dis, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA. [Jain, Shalini; Gavrilova, Oksana] Natl Inst Diabet & Digest & Kidney Dis, Mouse Metab Core, NIH, Bethesda, MD 20892 USA. [Tosh, Dilip K.; Jacobson, Kenneth A.] Natl Inst Diabet & Digest & Kidney Dis, Mol Recognit Sect, Bioorgan Chem Lab, NIH, Bethesda, MD 20892 USA. [Gizewski, Elizabeth; Wan, Tina C.; Auchampach, John A.] Med Coll Wisconsin, Dept Pharmacol, 8701 Watertown Plank Rd, Milwaukee, WI 53226 USA. RP Reitman, ML (reprint author), Natl Inst Diabet & Digest & Kidney Dis, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA. EM marc.reitman@nih.gov OI Reitman, Marc/0000-0002-0426-9475 FU Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases [ZIA DK075063, ZIA DK031117]; National Heart, Lung, and Blood Institute [R01H1077707] FX We thank Jurgen Schnermann for discussions. This research was supported in part by the Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases [ZIA DK075063; ZIA DK031117] and by the National Heart, Lung, and Blood Institute [R01H1077707]. NR 81 TC 0 Z9 0 U1 5 U2 5 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0028-3908 EI 1873-7064 J9 NEUROPHARMACOLOGY JI Neuropharmacology PD MAR 1 PY 2017 VL 114 BP 101 EP 113 DI 10.1016/j.neuropharm.2016.11.026 PG 13 WC Neurosciences; Pharmacology & Pharmacy SC Neurosciences & Neurology; Pharmacology & Pharmacy GA EI8SW UT WOS:000392779300010 PM 27914963 ER PT J AU Cocola, C Molgora, S Piscitelli, E Veronesi, MC Greco, M Bragato, C Moro, M Crosti, M Gray, B Milanesi, L Grieco, V Luvoni, GC Kehler, J Bellipanni, G Reinbold, R Zucchi, I Giordano, A AF Cocola, Cinzia Molgora, Stefano Piscitelli, Eleonora Veronesi, Maria Cristina Greco, Marianna Bragato, Cinzia Moro, Monica Crosti, Mariacristina Gray, Brian Milanesi, Luciano Grieco, Valeria Luvoni, Gaia Cecilia Kehler, James Bellipanni, Gianfranco Reinbold, Rolland Zucchi, Ileana Giordano, Antonio TI FGF2 and EGF Are Required for Self-Renewal and Organoid Formation of Canine Normal and Tumor Breast Stem Cells SO JOURNAL OF CELLULAR BIOCHEMISTRY LA English DT Article DE CANINES; CANCER; STEM; ORGANOIDS; MAMMOSPHERE; ACINI; FGF2; MAMMARY; BREAST ID MAMMARY-GLAND; INITIATING CELLS; IN-VITRO; CANCER; CULTURE; SYSTEM; MODEL AB Recent studies suggest that human tumors are generated from cancer cells with stem cell (SC) properties. Spontaneously occurring cancers in dogs contain a diversity of cells that like for human tumors suggest that certain canine tumors are also generated from cancer stem cells (CSCs). CSCs, like normal SCs, have the capacity for self-renewal as mammospheres in suspension cultures. To understand how cells with SC properties contribute to canine mammary gland tumor development and progression, comparative analysis between normal SCs and CSCs, obtained from the same individual, is essential. We have utilized the property of sphere formation to develop culture conditions for propagating stem/progenitor cells from canine normal and tumor tissue. We show that cells from dissociated mammospheres retain sphere reformation capacity for several serial passages and have the capacity to generate organoid structures ex situ. Utilizing various culture conditions for passaging SCs and CSCs, fibroblast growth factor 2 (FGF2) and epidermal growth factor (EGF) were found to positively or negatively regulate mammosphere regeneration, organoid formation, and multi-lineage differentiation potential. The response of FGF2 and EGF on SCs and CSCs was different, with increased FGF2 and EGF self-renewal promoted in SCs and repressed in CSCs. Our protocol for propagating SCs from normal and tumor canine breast tissue will provide new opportunities in comparative mammary gland stem cell analysis between species and anticancer treatment and therapies for dogs. J. Cell. Biochem. 118: 570-584, 2017. (c) 2016 Wiley Periodicals, Inc. C1 [Cocola, Cinzia; Molgora, Stefano; Piscitelli, Eleonora; Greco, Marianna; Milanesi, Luciano; Reinbold, Rolland; Zucchi, Ileana] CNR, Ist Tecnol Biomed, Via Flli Cervi 93, I-20090 Milan, Italy. [Veronesi, Maria Cristina; Grieco, Valeria] Univ Milan, Dept Vet Med, Via Celoria 10, I-20133 Milan, Italy. [Bragato, Cinzia] Fdn IRCCS Ist Neurol C Besta, Neuromuscular Dis & Neuroimmunol Unit, Muscle Cell Biol Lab, Via Temolo 4, Milan, Italy. [Moro, Monica; Crosti, Mariacristina] Fdn Ist Nazl Genet Mol Romeo & Enrica Invernizzi, Via Francesco Sforza 35, I-20122 Milan, Italy. [Gray, Brian] Mol Targeting Technol Inc, W Chester, PA USA. [Luvoni, Gaia Cecilia] Univ Milan, Dept Hlth Anim Sci & Food Safety, I-20133 Milan, Italy. [Kehler, James] NIDDK, NIH, Bethesda, MD 20814 USA. [Bellipanni, Gianfranco; Giordano, Antonio] NIDDK, NIH, Temple, TX 20814 USA. [Bellipanni, Gianfranco; Giordano, Antonio] Temple Univ, Coll Sci & Technol, Dept Biol, Temple, TX USA. [Bellipanni, Gianfranco; Giordano, Antonio] Temple Univ, Coll Sci & Technol, Sbarro Inst Canc Res & Mol Med, Philadelphia, PA 19122 USA. EM rolland.reinbold@itb.cnr.it; ileana.zucchi@itb.cnr.it OI Milanesi, Luciano/0000-0002-1201-3939 FU Cariplo Progetti-Internazionali; MIUR-FIRB [RBAP11-BYNP, RBAP11Z4Z9]; Progetto Bandiera MIUR-CNR Interomics; Progetto Bandiera MIUR-CNR Epigen FX Grant sponsor: Cariplo Progetti-Internazionali 2008-2015; Grant sponsor: MIUR-FIRB; Grant numbers: RBAP11-BYNP, RBAP11Z4Z9; Grant sponsor: Progetto Bandiera MIUR-CNR Interomics 2015; Grant sponsor: Progetto Bandiera MIUR-CNR Epigen 2016. NR 35 TC 1 Z9 1 U1 20 U2 20 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0730-2312 EI 1097-4644 J9 J CELL BIOCHEM JI J. Cell. Biochem. PD MAR PY 2017 VL 118 IS 3 BP 570 EP 584 DI 10.1002/jcb.25737 PG 15 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EI4VR UT WOS:000392492200015 PM 27632571 ER PT J AU Xu, T Zhang, H Xin, C Kim, E Long, LR Xue, ZY Antani, S Huang, XL AF Xu, Tao Zhang, Han Xin, Cheng Kim, Edward Long, L. Rodney Xue, Zhiyun Antani, Sameer Huang, Xiaolei TI Multi-feature based benchmark for cervical dysplasia classification evaluation SO PATTERN RECOGNITION LA English DT Article DE Cervical cancer screening; Computer aided diagnosis; Image classification; Pyramid histogram; Local binary patterns; Convolutional neural network ID IMAGING-SYSTEM; PATTERNS AB Cervical cancer is one of the most common types of cancer in women worldwide. Most deaths due to the disease occur in less developed areas of the world. In this work, we introduce a new image dataset along with expert annotated diagnoses for evaluating image-based cervical disease classification algorithms. A large number of Cervigram (R) images are selected from a database provided by the US National Cancer Institute. For each image, we extract three complementary pyramid features: Pyramid histogram in L*A*B* color space (PLAB), Pyramid Histogram of Oriented Gradients (PHOG), and Pyramid histogram of Local Binary Patterns (PLBP). Other than hand-crafted pyramid features, we investigate the performance of convolutional neural network (CNN) features for cervical disease classification. Our experimental results demonstrate the effectiveness of both our handcrafted and our deep features. We intend to release this multi-feature dataset and our extensive evaluations using seven classic classifiers can serve as the baseline. C1 [Xu, Tao; Xin, Cheng; Huang, Xiaolei] Lehigh Univ, Dept Comp Sci & Engn, Bethlehem, PA 18015 USA. [Zhang, Han] Rutgers State Univ, Dept Comp Sci, Piscataway, NJ USA. [Kim, Edward] Villanova Univ, Dept Comp Sci, Villanova, PA 19085 USA. [Long, L. Rodney; Xue, Zhiyun; Antani, Sameer] NIH, Natl Lib Med, Bethesda, MD USA. RP Huang, XL (reprint author), Lehigh Univ, Dept Comp Sci & Engn, Bethlehem, PA 18015 USA. EM xih206@lehigh.edu FU Intramural Research Program of the National Institutes of Health (NIH), National Library of Medicine (NLM); Lister Hill National Center for Biomedical Communications (LHNCBC) [HHSN276201000693P] FX This research was supported in part by the Intramural Research Program of the National Institutes of Health (NIH), National Library of Medicine (NLM), and Lister Hill National Center for Biomedical Communications (LHNCBC), under Contract HHSN276201000693P. We would also like to acknowledge the expert advice and support from Dr. Mark Schiffman and Dr. Nicolas Wentzensen of the National Cancer Institute (NCI) in the use and interpretation of data from the NCI Guanacaste Project. NR 31 TC 0 Z9 0 U1 30 U2 30 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 0031-3203 EI 1873-5142 J9 PATTERN RECOGN JI Pattern Recognit. PD MAR PY 2017 VL 63 BP 468 EP 475 DI 10.1016/j.patcog.2016.09.027 PG 8 WC Computer Science, Artificial Intelligence; Engineering, Electrical & Electronic SC Computer Science; Engineering GA EE7HG UT WOS:000389785900038 ER PT J AU Rajbhandari, N Lin, WC Wehde, BL Triplett, AA Wagner, KU AF Rajbhandari, Nirakar Lin, Wan-chi Wehde, Barbara L. Triplett, Aleata A. Wagner, Kay-Uwe TI Autocrine IGF1 Signaling Mediates Pancreatic Tumor Cell Dormancy in the Absence of Oncogenic Drivers SO CELL REPORTS LA English DT Article ID EPITHELIAL-CELLS; CANCER; MOUSE; KRAS; PROGRESSION; EXPRESSION; RESISTANCE; RECEPTOR; MODELS; INITIATION AB Mutant KRAS and c-MYC are oncogenic drivers and rational therapeutic targets for the treatment of pancreatic cancer. Although tumor growth and homeostasis are largely dependent on these oncogenes, a few residual cancer cells are able to survive the ablation of mutant KRAS and c-MYC. By performing a genome-wide gene expression analysis of in vivo-derived bulk tumor cells and residual cancer cells lacking the expression of mutant KRAS or c-MYC, we have identified an increase in autocrine IGF1/AKT signaling as a common survival mechanism in dormant cancer cells. The pharmacological inhibition of IGF-1R reduces residual disease burden and cancer recurrence, suggesting that this molecular pathway is crucial for the survival of cancer cells in the absence of the primary oncogenic drivers. C1 [Rajbhandari, Nirakar; Lin, Wan-chi; Wehde, Barbara L.; Triplett, Aleata A.; Wagner, Kay-Uwe] Univ Nebraska Med Ctr, Eppley Inst Res Canc & Allied Dis, 985950 Nebraska Med Ctr, Omaha, NE 68198 USA. [Rajbhandari, Nirakar; Wagner, Kay-Uwe] Univ Nebraska Med Ctr, Dept Biochem & Mol Biol, 985950 Nebraska Med Ctr, Omaha, NE 68198 USA. [Wagner, Kay-Uwe] Univ Nebraska Med Ctr, Dept Pathol & Microbiol, 985950 Nebraska Med Ctr, Omaha, NE 68198 USA. [Lin, Wan-chi] NIEHS, Immun Inflammat & Dis Lab, NIH, 111 TW Alexander Dr,POB 12233, Res Triangle Pk, NC 27709 USA. RP Wagner, KU (reprint author), Univ Nebraska Med Ctr, Eppley Inst Res Canc & Allied Dis, 985950 Nebraska Med Ctr, Omaha, NE 68198 USA.; Wagner, KU (reprint author), Univ Nebraska Med Ctr, Dept Biochem & Mol Biol, 985950 Nebraska Med Ctr, Omaha, NE 68198 USA.; Wagner, KU (reprint author), Univ Nebraska Med Ctr, Dept Pathol & Microbiol, 985950 Nebraska Med Ctr, Omaha, NE 68198 USA. EM kuwagner@unmc.edu FU Nebraska Cancer and Smoking Disease Research Program (NE DHHS) [LB506 2011-36, LB506 2016-54]; Public Health Service Grant [R21 CA155175, CA202917]; UNMC Graduate Studies Office FX The authors thank the UNMC Genomics Core Facility for assistance in nextgeneration sequencing (NGS) service and the UNMC Cell Analysis Core facility for flow cytometry. We are grateful to Karen K. Dulany for the preparation of histological sections. Financial support provided to K.-U.W. by the Nebraska Cancer and Smoking Disease Research Program (NE DHHS LB506 2011-36 and LB506 2016-54) was imperative to finance the maintenance of mutant mice and the collection of tumor tissues for transcriptome analysis. Additional funding was provided by Public Health Service Grant CA202917 (K.-U.W.). The work on the c-MYC-associated pancreatic cancer model was supported by Public Health Service Grant R21 CA155175 (K.-U.W.). N.R. and W.-c. L. were supported through a research assistantship from the UNMC Graduate Studies Office. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 29 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2211-1247 J9 CELL REP JI Cell Reports PD FEB 28 PY 2017 VL 18 IS 9 BP 2243 EP 2255 DI 10.1016/j.celrep.2017.02.013 PG 13 WC Cell Biology SC Cell Biology GA EP4CO UT WOS:000397328400016 PM 28249168 ER PT J AU Wu, ZH Plotnikov, SV Moalim, AY Waterman, CM Liu, J AF Wu, Zhanghan Plotnikov, Sergey V. Moalim, Abdiwahab Y. Waterman, Clare M. Liu, Jian TI Two Distinct Actin Networks Mediate Traction Oscillations to Confer Focal Adhesion Mechanosensing SO BIOPHYSICAL JOURNAL LA English DT Article ID FLUORESCENT SPECKLE MICROSCOPY; CELL-MATRIX ADHESIONS; MIGRATING CELLS; NASCENT ADHESIONS; MECHANICAL FORCE; RETROGRADE FLOW; STRESS FIBERS; ALPHA-ACTININ; MOTILE CELLS; DYNAMICS AB Focal adhesions (FAs) are integrin-based transmembrane assemblies that connect a cell to its extracellular matrix (ECM). They are mechanosensors through which cells exert actin cytoskeleton-mediated traction forces to sense the ECM stiffness. Interestingly, FAs themselves are dynamic structures that adapt their growth in response to mechanical force. It is unclear how the cell manages the plasticity of the FA structure and the associated traction force to accurately sense ECM stiffness. Strikingly, FA traction forces oscillate in time and space, and govern the cell mechanosensing of ECM stiffness. However, precisely how and why the FA traction oscillates is unknown. We developed a model of FA growth that integrates the contributions of the branched actin network and stress fibers (SFs). Using the model in combination with experimental tests, we show that the retrograde flux of the branched actin network promotes the proximal growth of the FA and contributes to a traction peak near the FA's distal tip. The resulting traction gradient within the growing FA favors SF formation near the FA's proximal end. The SF-mediated actomyosin contractility further stabilizes the FA and generates a second traction peak near the center of the FA. Forminmediated SF elongation negatively feeds back with actomyosin contractility, resulting in central traction peak oscillation. This underpins the observed FA traction oscillation and, importantly, broadens the ECM stiffness range over which FAs can accurately adapt to traction force generation. Actin cytoskeleton-mediated FA growth and maturation thus culminate with FA traction oscillation to drive efficient FA mechanosensing. C1 [Wu, Zhanghan; Liu, Jian] NHLBI, Theoret Cellular Phys Sect, Biochem & Biophys Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. [Plotnikov, Sergey V.; Moalim, Abdiwahab Y.] Univ Toronto, Dept Cell & Syst Biol, Toronto, ON, Canada. [Waterman, Clare M.] NHLBI, Lab Cell & Tissue Morphodynam, Cell Biol & Physiol Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Liu, J (reprint author), NHLBI, Theoret Cellular Phys Sect, Biochem & Biophys Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. EM jian.liu@nih.gov FU Intramural Research Program of the National Heart, Lung, and Blood Institute, National Institutes of Health; Connaught Fund New Investigator Award; Canada Foundation for Innovation [34473]; Natural Sciences and Engineering Research Council of Canada [RGPIN-2015-05114] FX This work was supported by the Intramural Research Program of the National Heart, Lung, and Blood Institute, National Institutes of Health. This work was partially supported by a Connaught Fund New Investigator Award to S.V.P. and by grants from the Canada Foundation for Innovation (#34473) and the Discovery Grant Program of the Natural Sciences and Engineering Research Council of Canada (RGPIN-2015-05114) to S.V.P. NR 65 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0006-3495 EI 1542-0086 J9 BIOPHYS J JI Biophys. J. PD FEB 28 PY 2017 VL 112 IS 4 BP 780 EP 794 DI 10.1016/j.bpj.2016.12.035 PG 15 WC Biophysics SC Biophysics GA EM9FU UT WOS:000395617800022 PM 28256237 ER PT J AU Nash, RA Hutton, GJ Racke, MK Popat, U Devine, SM Steinmiller, KC Griffith, LM Muraro, PA Openshaw, H Sayre, PH Stuve, O Arnold, DL Wener, MH Georges, GE Wundes, A Kraft, GH Bowen, JD AF Nash, Richard A. Hutton, George J. Racke, Michael K. Popat, Uday Devine, Steven M. Steinmiller, Kaitlyn C. Griffith, Linda M. Muraro, Paolo A. Openshaw, Harry Sayre, Peter H. Stuve, Olaf Arnold, Douglas L. Wener, Mark H. Georges, George E. Wundes, Annette Kraft, George H. Bowen, James D. TI High-dose immunosuppressive therapy and autologous HCT for relapsing-remitting MS SO NEUROLOGY LA English DT Article ID STEM-CELL TRANSPLANTATION; AGGRESSIVE MULTIPLE-SCLEROSIS; DISEASE-ACTIVITY; NO EVIDENCE; MARROW-TRANSPLANTATION; CLINICAL-TRIAL; MRI LESIONS; FOLLOW-UP; DISABILITY; EXPERIENCE AB Objective: To evaluate the safety, efficacy, and durability of multiple sclerosis (MS) disease stabilization after high-dose immunosuppressive therapy (HDIT) and autologous hematopoietic cell transplantation (HCT). Methods: High-Dose Immunosuppression and Autologous Transplantation for Multiple Sclerosis (HALT-MS) is a phase II clinical trial of HDIT/HCT for patients with relapsing-remitting (RR) MS who experienced relapses with disability progression (Expanded Disability Status Scale [EDSS] 3.0-5.5) while on MS disease-modifying therapy. The primary endpoint was event-free survival (EFS), defined as survival without death or disease activity from any one of: disability progression, relapse, or new lesions on MRI. Participants were evaluated through 5 years posttransplant. Toxicities were reported using the National Cancer Institute Common Terminology Criteria for Adverse Events (AE). Results: Twenty-five participants were evaluated for transplant and 24 participants underwent HDIT/HCT. Median follow-up was 62 months (range 12-72). EFS was 69.2% (90% confidence interval [CI] 50.2-82.1). Progression-free survival, clinical relapse-free survival, and MRI activity-free survival were 91.3% (90% CI 74.7%-97.2%), 86.9% (90% CI 69.5%-94.7%), and 86.3% (90% CI 68.1%-94.5%), respectively. AE due to HDIT/HCT were consistent with expected toxicities and there were no significant late neurologic adverse effects noted. Improvements were noted in neurologic disability with a median change in EDSS of 20.5 (interquartile range -1.5 to 0.0; p = 0.001) among participants who survived and completed the study. Conclusion: HDIT/HCT without maintenance therapy was effective for inducing long-term sustained remissions of active RRMS at 5 years. C1 [Nash, Richard A.] Colorado Blood Canc Inst, Denver, CO 80218 USA. [Hutton, George J.] Baylor Coll Med, Houston, TX 77030 USA. [Racke, Michael K.; Devine, Steven M.] Ohio State Univ, Columbus, OH 43210 USA. [Popat, Uday] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA. [Steinmiller, Kaitlyn C.] Rho Inc, Chapel Hill, NC USA. [Griffith, Linda M.] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Muraro, Paolo A.] Imperial Coll London, Div Brain Sci, London, England. [Openshaw, Harry] City Hope Natl Med Ctr, 1500 E Duarte Rd, Duarte, CA 91010 USA. [Sayre, Peter H.] Univ Calif San Francisco, Immune Tolerance Network, San Francisco, CA 94143 USA. [Stuve, Olaf] Univ Texas Southwestern, Dallas, TX USA. [Arnold, Douglas L.] McGill Univ, NeuroRx, Montreal, PQ, Canada. [Georges, George E.] Fred Hutchinson Canc Res Ctr, 1124 Columbia St, Seattle, WA 98104 USA. [Wener, Mark H.; Wundes, Annette; Kraft, George H.] Univ Washington, Seattle, WA 98195 USA. [Bowen, James D.] Swedish Med Ctr, Med Ctr, Seattle, WA USA. RP Nash, RA (reprint author), Colorado Blood Canc Inst, Denver, CO 80218 USA. EM richard.nash@healthonecares.com FU Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases (DAIT-NIAID), NIH,; DAIT; NIAID; NIH FX This work was sponsored by the Division of Allergy, Immunology, and Transplantation, National Institute of Allergy and Infectious Diseases (DAIT-NIAID), NIH, and conducted by the Immune Tolerance Network (ITN) (UM1 AI 109565) and DAIT-NIAID-funded statistical and clinical coordinating centers (UM2 AI 117870). The funding organization and sponsor, DAIT, NIAID, NIH, participated in design and conduct of the study; collection, management, analysis, and interpretation of the data; preparation, review, and approval of the manuscript; and the decision to submit the manuscript for publication. Baxter Healthcare Corporation, Deerfield, IL, supplied the Isolex 300i Magnetic Cell Selection System machines, Disposable Sets, and CD34 Reagent Kits used for the HALT-MS clinical trial to DAIT, NIAID, without charge. The opinions expressed are those of the authors and do not represent the position of the National Institute of Allergy and Infectious Diseases, the NIH, or the US Government. NR 38 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0028-3878 EI 1526-632X J9 NEUROLOGY JI Neurology PD FEB 28 PY 2017 VL 88 IS 9 BP 842 EP 852 DI 10.1212/WNL.0000000000003660 PG 11 WC Clinical Neurology SC Neurosciences & Neurology GA EP4HH UT WOS:000397341100014 PM 28148635 ER PT J AU Dimitriades, VR Devlin, V Pittaluga, S Su, HC Holland, SM Wilson, W Dunleavy, K Shah, NN Freeman, AF AF Dimitriades, Victoria R. Devlin, Vincent Pittaluga, Stefania Su, Helen C. Holland, Steven M. Wilson, Wyndham Dunleavy, Kieron Shah, Nirali N. Freeman, Alexandra F. TI DOCK 8 Deficiency, EBV+ Lymphomatoid Granulomatosis, and Intrafamilial Variation in Presentation SO FRONTIERS IN PEDIATRICS LA English DT Article DE DOCK8; lymphomatoid granulomatosis; lymphomatous granulomatosis; eBV lymphoproliferation; bone marrow transplantation ID STEM-CELL TRANSPLANTATION; DEDICATOR; PHENOTYPE; MUTATIONS AB Dedicator of cytokinesis 8 ( DOCK8) deficiency is an autosomal recessive, combined immunodeficiency within the spectrum of hyper-IgE syndromes. Epstein-Barr virus-positive lymphomatoid granulomatosis ( LYG) ( EBV+LYG) is a rare diagnosis and a previously unreported presentation of DOCK8 deficiency. A 10-year-old girl was initially evaluated for mild eczema and recurrent sinopulmonary infections. She had normal immunoglobulins with elevated IgE, poor polysaccharide response with low switched memory B cells, low CD4 count, and normal mitogen and antigen responses. Despite clinical improvement following immunoglobulin replacement, a prolonged cough prompted a CT scan, which showed nodules. Biopsy identified a Grade 2 EBV+LYG. Due to an inadequate response with chemotherapy, further workup for primary immunodeficiency was performed. With her symptoms of eczema and IgE elevation, along with her brother's history of recurrent sinopulmonary infections and warts, targeted sequencing of DOCK8 was performed revealing compound heterozygous mutations for the two siblings. Both patients were successfully transplanted with resolution of the LYG and warts, respectively. This is the first reported case of LYG in DOCK8 deficiency. The EBV-driven lymphoproliferative disease along with the infection history in the brother led to the diagnosis of DOCK8 deficiency and curative hematopoietic stem cell transplants. C1 [Dimitriades, Victoria R.] Univ Calif Davis, Med Ctr, Dept Pediat, Div Infect Dis Immunol & Allergy, Sacramento, CA 95817 USA. [Devlin, Vincent] Louisiana State Univ, Med Ctr, Dept Pediat, New Orleans, LA 70112 USA. [Pittaluga, Stefania] NCI, Dept Pathol, NIH, Bethesda, MD 20892 USA. [Su, Helen C.; Holland, Steven M.; Freeman, Alexandra F.] NIAID, NIH, Bethesda, MD 20892 USA. [Wilson, Wyndham; Dunleavy, Kieron; Shah, Nirali N.] NCI, NIH, Bethesda, MD 20892 USA. RP Freeman, AF (reprint author), NIAID, NIH, Bethesda, MD 20892 USA. EM freemaal@mail.nih.gov NR 12 TC 0 Z9 0 U1 2 U2 2 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 2296-2360 J9 FRONT PEDIATR JI Front. Pediatr. PD FEB 28 PY 2017 VL 5 AR 38 DI 10.3389/fped.2017.00038 PG 4 WC Pediatrics SC Pediatrics GA EL8UB UT WOS:000394894500001 PM 28293550 ER PT J AU Dabelea, D Stafford, JM Mayer-Davis, EJ D'Agostino, R Dolan, L Imperatore, G Linder, B Lawrence, JM Marcovina, SM Mottl, AK Black, MH Pop-Busui, R Saydah, S Hamman, RF Pihoker, C AF Dabelea, Dana Stafford, Jeanette M. Mayer-Davis, Elizabeth J. D'Agostino, Ralph Dolan, Lawrence Imperatore, Giuseppina Linder, Barbara Lawrence, Jean M. Marcovina, Santica M. Mottl, Amy K. Black, Mary Helen Pop-Busui, Rodica Saydah, Sharon Hamman, Richard F. Pihoker, Catherine CA SEARCH Diabet Youth Res Grp TI Association of Type 1 Diabetes vs Type 2 Diabetes Diagnosed During Childhood and Adolescence With Complications During Teenage Years and Young Adulthood SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID PERIPHERAL NEUROPATHY; FUTURE-DIRECTIONS; ONSET TYPE-1; RISK-FACTORS; YOUTH; SEARCH; PREVALENCE; COHORT; RETINOPATHY; MORTALITY AB IMPORTANCE The burden and determinants of complications and comorbidities in contemporary youth-onset diabetes are unknown. OBJECTIVE To determine the prevalence of and risk factors for complications related to type 1 diabetes vs type 2 diabetes among teenagers and young adults who had been diagnosed with diabetes during childhood and adolescence. DESIGN, SETTING, AND PARTICIPANTS Observational study from 2002 to 2015 in 5 US locations, including 2018 participants with type 1 and type 2 diabetes diagnosed at younger than 20 years, with single outcome measures between 2011 and 2015. EXPOSURES Type 1 and type 2 diabetes and established risk factors (hemoglobin A(1c) level, body mass index, waist-height ratio, and mean arterial blood pressure). MAIN OUTCOMES AND MEASURES Diabetic kidney disease, retinopathy, peripheral neuropathy, cardiovascular autonomic neuropathy, arterial stiffness, and hypertension. RESULTS Of 2018 participants, 1746 had type 1 diabetes (mean age, 17.9 years [SD 4.1]; 1327 non-Hispanic white [76.0%]; 867 female patients [49.7%]), and 272 had type 2 (mean age, 22.1 years [SD 3.5]; 72 non-Hispanic white [26.5%]; 181 female patients [66.5%]). Mean diabetes duration was 7.9 years (both groups). Patients with type 2 diabetes vs those with type 1 had higher age-adjusted prevalence of all measured complications except cardiovascular autonomic neuropathy. After adjustment for established risk factors measured over time, participants with type 2 diabetes vs those with type 1 had significantly higher odds of diabetic kidney disease, retinopathy, and peripheral neuropathy but no significant difference in the odds of arterial stiffness and hypertension. [GRAPHICS] CONCLUSIONS AND RELEVANCE Among teenagers and young adults who had been diagnosed with diabetes during childhood or adolescence, the prevalence of complications and comorbidities was higher among those with type 2 diabetes compared with type 1, but frequent in both groups. These findings support early monitoring of youth with diabetes for development of complications. C1 [Dabelea, Dana; Hamman, Richard F.] Colorado Sch Publ Hlth, Dept Epidemiol, B-119, Aurora, CO 80045 USA. [Stafford, Jeanette M.; D'Agostino, Ralph] Wake Forest Sch Med, Dept Biostat Sci, Winston Salem, NC USA. [Mayer-Davis, Elizabeth J.] Univ N Carolina, Dept Nutr, Chapel Hill, NC 27599 USA. [Mayer-Davis, Elizabeth J.] Univ N Carolina, Dept Med, Chapel Hill, NC 27599 USA. [Dolan, Lawrence] Cincinnati Childrens Hosp Med Ctr, Cincinnati, OH 45229 USA. [Imperatore, Giuseppina; Saydah, Sharon] Ctr Dis Control & Prevent, Div Diabet Translat, Atlanta, GA USA. [Linder, Barbara] Natl Inst Diabet & Digest & Kidney Dis, Div Diabet Endocrinol & Metab Dis, Bethesda, MD USA. [Lawrence, Jean M.; Black, Mary Helen] Kaiser Permanente Southern Calif, Dept Res & Evaluat, Pasadena, CA 91101 USA. [Marcovina, Santica M.] Univ Washington, Northwest Lipid Res Lab, Seattle, WA USA. [Mottl, Amy K.] Univ N Carolina, Sch Med, Div Nephrol & Hypertens, Chapel Hill, NC USA. [Pop-Busui, Rodica] Univ Michigan, Div Metab Endocrinol & Diabet, Ann Arbor, MI 48109 USA. [Pihoker, Catherine] Univ Washington, Dept Pediat, Seattle, WA 98195 USA. RP Dabelea, D (reprint author), Colorado Sch Publ Hlth, Dept Epidemiol, B-119, Aurora, CO 80045 USA. EM dana.dabelea@ucdenver.edu FU National Institutes of Health (NIH), National Institute of Diabetes and Digestive and Kidney Diseases; Centers for Disease Control and Prevention (CDC); CDC [RFP DP15-002]; NIH, National Institute of Diabetes and Digestive and Kidney Diseases; Kaiser Permanente Southern California [U18DP006133, U48/CCU919219, U01 DP000246, U18DP002714]; University of Colorado-Denver [U18DP006139, U48/CCU819241-3, U01 DP000247, U18DP000247-06A1]; Cincinnati's Children's Hospital Medical Center [U18DP006134, U48/CCU519239, U01 DP000248, 1U18DP002709]; University of North Carolina at Chapel Hill [U18DP006138, U48/CCU419249, U01 DP000254, U18DP002708]; Seattle Children's Hospital [U18DP006136, U58/CCU019235-4, U01 DP000244, U18DP002710-01]; Wake Forest University School of Medicine [U18DP006131, U48/CC U919219, U01 DP000250, 200-2010-35171] FX The SEARCH for Diabetes in Youth Cohort Study (1UC4DK108173-01) is funded by the National Institutes of Health (NIH), National Institute of Diabetes and Digestive and Kidney Diseases and supported by the Centers for Disease Control and Prevention (CDC). The Population Based Registry of Diabetes in Youth Study (RFP DP15-002) is funded by the CDC and supported by the NIH, National Institute of Diabetes and Digestive and Kidney Diseases. Sites: Kaiser Permanente Southern California (U18DP006133, U48/CCU919219, U01 DP000246, and U18DP002714), University of Colorado-Denver (U18DP006139, U48/CCU819241-3, U01 DP000247, and U18DP000247-06A1), Cincinnati's Children's Hospital Medical Center (U18DP006134, U48/CCU519239, U01 DP000248, and 1U18DP002709), University of North Carolina at Chapel Hill (U18DP006138, U48/CCU419249, U01 DP000254, and U18DP002708), Seattle Children's Hospital (U18DP006136, U58/CCU019235-4, U01 DP000244, and U18DP002710-01), and Wake Forest University School of Medicine (U18DP006131, U48/CC U919219, U01 DP000250, and 200-2010-35171). NR 39 TC 1 Z9 1 U1 4 U2 4 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD FEB 28 PY 2017 VL 317 IS 8 BP 825 EP 835 DI 10.1001/jama.2017.0686 PG 11 WC Medicine, General & Internal SC General & Internal Medicine GA EM7PW UT WOS:000395505600020 PM 28245334 ER PT J AU Varshney, A Scott, LJ Welch, RP Erdos, MR Chines, PS Narisu, N Albanus, RD Orchard, P Wolford, BN Kursawe, R Vadlamudi, S Cannon, ME Didion, JP Hensley, J Kirilusha, A Bonnycastle, LL Taylor, DL Watanabe, R Mohlke, KL Boehnke, M Collins, FS Parker, SCJ Stitzel, ML AF Varshney, Arushi Scott, Laura J. Welch, Ryan P. Erdos, Michael R. Chines, Peter S. Narisu, Narisu Albanus, Ricardo D'O. Orchard, Peter Wolford, Brooke N. Kursawe, Romy Vadlamudi, Swarooparani Cannon, Maren E. Didion, John P. Hensley, John Kirilusha, Anthony Bonnycastle, Lori L. Taylor, D. Leland Watanabe, Richard Mohlke, Karen L. Boehnke, Michael Collins, Francis S. Parker, Stephen C. J. Stitzel, Michael L. CA NISC Comparative Sequencing Progra TI Genetic regulatory signatures underlying islet gene expression and type 2 diabetes SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE chromatin; diabetes; eQTL; epigenome; footprint ID GENOME-WIDE ASSOCIATION; PANCREATIC BETA-CELL; INSULIN-SECRETION; GENOTYPE IMPUTATION; VARIANTS; CHROMATIN; DISEASE; RFX6; DISCOVERY; IDENTIFICATION AB Genome-wide association studies (GWAS) have identified > 100 independent SNPs that modulate the risk of type 2 diabetes (T2D) and related traits. However, the pathogenic mechanisms of most of these SNPs remain elusive. Here, we examined genomic, epigenomic, and transcriptomic profiles in human pancreatic islets to understand the links between genetic variation, chromatin landscape, and gene expression in the context of T2D. We first integrated genome and transcriptome variation across 112 islet samples to produce dense cis-expression quantitative trait loci (cis-eQTL) maps. Additional integration with chromatin-state maps for islets and other diverse tissue types revealed that cis-eQTLs for islet-specific genes are specifically and significantly enriched in islet stretch enhancers. High-resolution chromatin accessibility profiling using assay for transposase-accessible chromatin sequencing (ATACseq) in two islet samples enabled us to identify specific transcription factor (TF) footprints embedded in active regulatory elements, which are highly enriched for islet cis-eQTL. Aggregate allelic bias signatures in TF footprints enabled us de novo to reconstruct TF binding affinities genetically, which support the high-quality nature of the TF footprint predictions. Interestingly, we found that T2D GWAS loci were strikingly and specifically enriched in islet Regulatory Factor X (RFX) footprints. Remarkably, within and across independent loci, T2D risk alleles that overlap with RFX footprints uniformly disrupt the RFX motifs at high-information content positions. Together, these results suggest that common regulatory variations have shaped islet TF footprints and the transcriptome and that a confluent RFX regulatory grammar plays a significant role in the genetic component of T2D predisposition. C1 [Varshney, Arushi; Parker, Stephen C. J.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. [Scott, Laura J.; Welch, Ryan P.; Boehnke, Michael] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA. [Scott, Laura J.; Welch, Ryan P.; Boehnke, Michael] Univ Michigan, Ctr Stat Genet, Ann Arbor, MI 48109 USA. [Erdos, Michael R.; Chines, Peter S.; Narisu, Narisu; Didion, John P.; Kirilusha, Anthony; Bonnycastle, Lori L.; Taylor, D. Leland; Collins, Francis S.] NHGRI, NIH, Bethesda, MD 20892 USA. [Albanus, Ricardo D'O.; Orchard, Peter; Wolford, Brooke N.; Hensley, John; Parker, Stephen C. J.] Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA. [Kursawe, Romy; Stitzel, Michael L.] Jackson Lab Genom Med, Farmington, CT 06032 USA. [Vadlamudi, Swarooparani; Cannon, Maren E.; Mohlke, Karen L.] Univ N Carolina, Dept Genet, Chapel Hill, NC 27599 USA. [NISC Comparative Sequencing Progra] NHGRI, NIH, Intramural Sequencing Ctr, Bethesda, MD 20892 USA. [Taylor, D. Leland] European Bioinformat Inst, Wellcome Trust Genome Campus, European Mol Biol Lab, Hinxton CB10 1SD, Cambs, England. [Watanabe, Richard] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA. [Watanabe, Richard] Univ Southern Calif, Keck Sch Med, Dept Physiol & Biophys, Los Angeles, CA 90089 USA. RP Parker, SCJ (reprint author), Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA.; Collins, FS (reprint author), NHGRI, NIH, Bethesda, MD 20892 USA.; Parker, SCJ (reprint author), Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA. EM collinsf@od.nih.gov; scjp@umich.edu OI Taylor, Leland/0000-0001-6498-6970 FU National Institute of Diabetes and Digestive and Kidney Diseases Grants [F31HL127984, U01DK062370, ZIAHG000024, R00DK099240, 5R00DK092251, R01DK093757, U01DK105561, R01DK072193]; American Diabetes Association Pathway to Stop Diabetes Grant [1-14-INI-07]; Intramural Research Program of the National Human Genome Research Institute, NIH FX We thank additional members of our laboratories and Finland-United States Investigation of NIDDM Genetics (FUSION) Study investigators for helpful comments on and critiques of the study and manuscript. This study was supported by National Institute of Diabetes and Digestive and Kidney Diseases Grants F31HL127984 (to M.E.C.), U01DK062370 (to M.B.), ZIAHG000024 (to F.S.C.), R00DK099240 (to S.C.J.P.), 5R00DK092251 (to M.L.S.), and R01DK093757, U01DK105561, and R01DK072193 (to K.L.M.) and American Diabetes Association Pathway to Stop Diabetes Grant 1-14-INI-07 (to S.C.J.P.). This research was supported, in part, by the Intramural Research Program of the National Human Genome Research Institute, NIH. NR 56 TC 0 Z9 0 U1 2 U2 2 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 28 PY 2017 VL 114 IS 9 BP 2301 EP 2306 DI 10.1073/pnas.1621192114 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1TZ UT WOS:000395101200062 PM 28193859 ER PT J AU Lau, MSY Dalziel, BD Funk, S McClelland, A Tiffany, A Riley, S Metcalf, CJE Grenfell, BT AF Lau, Max S. Y. Dalziel, Benjamin Douglas Funk, Sebastian McClelland, Amanda Tiffany, Amanda Riley, Steven Metcalf, C. Jessica E. Grenfell, Bryan T. TI Spatial and temporal dynamics of superspreading events in the 2014-2015 West Africa Ebola epidemic SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE Ebola; superspreading; offspring distribution; Bayesian inference ID VIRUS DISEASE; TRANSMISSION; OUTBREAK AB The unprecedented scale of the Ebola outbreak in Western Africa (2014-2015) has prompted an explosion of efforts to understand the transmission dynamics of the virus and to analyze the performance of possible containment strategies. Models have focused primarily on the reproductive numbers of the disease that represent the average number of secondary infections produced by a random infectious individual. However, these population-level estimates may conflate important systematic variation in the number of cases generated by infected individuals, particularly found in spatially localized transmission and superspreading events. Although superspreading features prominently in first-hand narratives of Ebola transmission, its dynamics have not been systematically characterized, hindering refinements of future epidemic predictions and explorations of targeted interventions. We used Bayesian model inference to integrate individual-level spatial information with other epidemiological data of community-based (undetected within clinical-care systems) cases and to explicitly infer distribution of the cases generated by each infected individual. Our results show that super-spreaders play a key role in sustaining onward transmission of the epidemic, and they are responsible for a significant proportion (similar to 61%) of the infections. Our results also suggest age as a key demographic predictor for superspreading. We also show that community-based cases may have progressed more rapidly than those notified within clinical-care systems, and most transmission events occurred in a relatively short distance (with median value of 2.51 km). Our results stress the importance of characterizing superspreading of Ebola, enhance our current understanding of its spatiotemporal dynamics, and highlight the potential importance of targeted control measures. C1 [Lau, Max S. Y.; Metcalf, C. Jessica E.; Grenfell, Bryan T.] Princeton Univ, Dept Ecol & Evolutionary Biol, Princeton, NJ 08544 USA. [Dalziel, Benjamin Douglas] Oregon State Univ, Dept Integrat Biol, Corvallis, OR 97331 USA. [Dalziel, Benjamin Douglas] Oregon State Univ, Dept Math, Corvallis, OR 97331 USA. [Funk, Sebastian] London Sch Hyg & Trop Med, Ctr Math Modelling Infect Dis, London WC1E 7HT, England. [McClelland, Amanda] Int Federat Red Cross & Red Crescent Societies, CH-1211 Geneva 19, Switzerland. [Tiffany, Amanda] Epicentre, CH-1211 Geneva 6, Switzerland. [Riley, Steven] Imperial Coll London, Dept Infect Dis Epidemiol, Ctr Outbreak Anal & Modelling, MRC, London SW7 2AZ, England. [Grenfell, Bryan T.] NIH, Fogarty Int Ctr, Bethesda, MD 20892 USA. RP Lau, MSY (reprint author), Princeton Univ, Dept Ecol & Evolutionary Biol, Princeton, NJ 08544 USA. EM msylau@princeton.edu FU Bill & Melinda Gates Foundation [OPP1091919]; RAPIDD program of the Science and Technology Directorate Department of Homeland Security; UK Medical Research Council (MRC); MRC Career Award in Biostatistics [MR/K021680/1]; Fogarty International Center, National Institutes of Health FX This work was supported by Bill & Melinda Gates Foundation Grant OPP1091919; the RAPIDD program of the Science and Technology Directorate Department of Homeland Security and the Fogarty International Center, National Institutes of Health; and the UK Medical Research Council (MRC). S.F. was also supported by MRC Career Award in Biostatistics MR/K021680/1. NR 34 TC 0 Z9 0 U1 2 U2 2 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 28 PY 2017 VL 114 IS 9 BP 2337 EP 2342 DI 10.1073/pnas.1614595114 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1TZ UT WOS:000395101200068 PM 28193880 ER PT J AU Feeley, EM Pilla-Moffett, DM Zwack, EE Piro, AS Finethy, R Kolb, JP Martinez, J Brodsky, IE Coers, J AF Feeley, Eric M. Pilla-Moffett, Danielle M. Zwack, Erin E. Piro, Anthony S. Finethy, Ryan Kolb, Joseph P. Martinez, Jennifer Brodsky, Igor E. Coers, Joern TI Galectin-3 directs antimicrobial guanylate binding proteins to vacuoles furnished with bacterial secretion systems SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE interferon; guanylate binding proteins; immunity-related GTPase; galectin; ubiquitin ID LEGIONELLA-PNEUMOPHILA; TOXOPLASMA-GONDII; HOST-DEFENSE; YERSINIA-PSEUDOTUBERCULOSIS; PARASITOPHOROUS VACUOLE; AUTOPHAGY PROTEINS; SALMONELLA; RESISTANCE; PATHOGENS; IMMUNITY AB Many invasive bacteria establish pathogen-containing vacuoles (PVs) as intracellular niches for microbial growth. Immunity to these infections is dependent on the ability of host cells to recognize PVs as targets for host defense. The delivery of several host defense proteins to PVs is controlled by IFN-inducible guanylate binding proteins (GBPs), which themselves dock to PVs through poorly characterized mechanisms. Here, we demonstrate that GBPs detect the presence of bacterial protein secretion systems as "patterns of pathogenesis" associated with PVs. We report that the delivery of GBP2 to Legionella-containing vacuoles is dependent on the bacterial Dot/Icm secretion system, whereas the delivery of GBP2 to Yersiniacontaining vacuoles (YCVs) requires hypersecretion of Yersinia translocon proteins. We show that the presence of bacterial secretion systems directs cytosolic carbohydrate-binding protein Galectin-3 to PVs and that the delivery of GBP1 and GBP2 to Legionella-containing vacuoles or YCVs is substantially diminished in Galectin-3-deficient cells. Our results illustrate that insertion of bacterial secretion systems into PV membranes stimulates Galectin-3-dependent recruitment of antimicrobial GBPs to PVs as part of a coordinated host defense program. C1 [Feeley, Eric M.; Pilla-Moffett, Danielle M.; Piro, Anthony S.; Finethy, Ryan; Coers, Joern] Duke Univ Med Ctr, Dept Mol Genet & Microbiol, Durham, NC 27710 USA. [Zwack, Erin E.; Brodsky, Igor E.] Univ Penn, Sch Vet Med, Dept Pathobiol, Philadelphia, PA 19104 USA. [Kolb, Joseph P.; Martinez, Jennifer] NIEHS, Natl Inst Hlth, Res Triangle Pk, NC 27709 USA. [Coers, Joern] Duke Univ Med Ctr, Dept Immunol, Durham, NC 27710 USA. RP Coers, J (reprint author), Duke Univ Med Ctr, Dept Mol Genet & Microbiol, Durham, NC 27710 USA.; Coers, J (reprint author), Duke Univ Med Ctr, Dept Immunol, Durham, NC 27710 USA. EM jorn.coers@duke.edu FU National Institutes of Health [R21AI122048, R01AI103197, R01AI103062]; Investigators in the Pathogenesis of Infectious Disease Awards from the Burroughs Wellcome Fund FX We thank Dr. Gregory Taylor for sharing Irgm1-/Irgm3-/- mouse bone marrow cells, Dr. Felix Randow for sharing YFP-Galectin expression constructs, Dr. Sunny Shin for sharing the mCherry expression plasmid, and Sarah Luoma for technical assistance. This work was supported by National Institutes of Health Grants R21AI122048 (to J.C.), R01AI103197 (to J.C.), and R01AI103062 (to I. E. B.), and Investigators in the Pathogenesis of Infectious Disease Awards from the Burroughs Wellcome Fund (to J.C. and I.E.B.). NR 57 TC 0 Z9 0 U1 0 U2 0 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 28 PY 2017 VL 114 IS 9 BP E1698 EP E1706 DI 10.1073/pnas.1615771114 PG 9 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1TZ UT WOS:000395101200016 PM 28193861 ER PT J AU Knudson, KM Pritzl, CJ Saxena, V Altman, A Daniels, MA Teixeiro, E AF Knudson, Karin M. Pritzl, Curtis J. Saxena, Vikas Altman, Amnon Daniels, Mark A. Teixeiro, Emma TI NF kappa B-Pim-1-Eomesodermin axis is critical for maintaining CD8 T-cell memory quality SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE CD8 T-cell memory; NFkB; Pim1; Eomesodermin ID NF-KAPPA-B; KINASE C-THETA; TRANSCRIPTIONAL CONTROL; TERMINAL KINASE; CUTTING EDGE; IKK COMPLEX; RECEPTOR; EFFECTOR; DIFFERENTIATION; SURVIVAL AB T-cell memory is critical for long-term immunity. However, the factors involved in maintaining the persistence, function, and phenotype of the memory pool are undefined. Eomesodermin (Eomes) is required for the establishment of the memory pool. Here, we show that in T cells transitioning to memory, the expression of high levels of Eomes is not constitutive but rather requires a continuum of cell-intrinsic NF kappa B signaling. Failure to maintain NF kappa B signals after the peak of the response led to impaired Eomes expression and a defect in the maintenance of CD8 T-cell memory. Strikingly, we found that antigen receptor [T-cell receptor (TCR)] signaling regulates this process through expression of the NF(kappa)Bdependent kinase proviral integration site for Moloney murine leukemia virus-1 (PIM-1), which in turn regulates NF kappa B and Eomes. T cells defective in TCR-dependent NF kappa B signaling were impaired in late expression of Pim-1, Eomes, and CD8 memory. These defects were rescued when TCR-dependent NF kappa B signaling was restored. We also found that NF kappa B-Pim-1 signals were required at memory to maintain memory CD8 T-cell longevity, effector function, and Eomes expression. Hence, an NF kappa B-Pim-1Eomes axis regulates Eomes levels to maintain memory fitness. C1 [Knudson, Karin M.; Pritzl, Curtis J.; Saxena, Vikas; Daniels, Mark A.; Teixeiro, Emma] Univ Missouri, Sch Med, Dept Mol Microbiol & Immunol, Columbia, MO 65212 USA. [Knudson, Karin M.] Natl Canc Inst, Natl Inst Hlth, Ctr Canc Res, Lab Tumor Immunol & Biol, Bethesda, MD 20814 USA. [Altman, Amnon] Jolla Inst Allergy & Immunol, Divis Cell Biol, San Diego, CA 92121 USA. RP Teixeiro, E (reprint author), Univ Missouri, Sch Med, Dept Mol Microbiol & Immunol, Columbia, MO 65212 USA. EM teixeiropernase@missouri.edu FU University of Missouri Mission Enhancement Fund; University of Missouri Life Sciences Fellowship; National Institutes of Health [R01 AI110420, R01 CA35299] FX We thank S. Guerder, M. Croft, S. Reiner, and N. Kim for providing retroviral constructs; S. S. Way, M. Bevan, and D. Zehn for providing Listeria monocytogenes strains; B. Osborne, S. Jameson, and Sara Hamilton for critical discussion; R. Kedl for performing experiments with CD70-deficient mice; B. Hahm and M. Vijayan for providing the NF.B reporter construct; and M. Johnson, D. Burke, and M. Lange for providing the VSV-G construct. This work was supported by the University of Missouri Mission Enhancement Fund, the University of Missouri Life Sciences Fellowship (to K.M.K.), and the National Institutes of Health Grants R01 AI110420 (to E.T.) and R01 CA35299 (to A.A.). NR 56 TC 0 Z9 0 U1 2 U2 2 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 28 PY 2017 VL 114 IS 9 BP E1659 EP E1667 DI 10.1073/pnas.1608448114 PG 9 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1TZ UT WOS:000395101200012 PM 28193872 ER PT J AU Cubenas-Potts, C Rowley, MJ Lyu, XW Li, G Lei, EP Corces, VG AF Cubenas-Potts, Caelin Rowley, M. Jordan Lyu, Xiaowen Li, Ge Lei, Elissa P. Corces, Victor G. TI Different enhancer classes in Drosophila bind distinct architectural proteins and mediate unique chromatin interactions and 3D architecture SO NUCLEIC ACIDS RESEARCH LA English DT Article ID INTEGRATIVE GENOMICS VIEWER; LONG-RANGE INTERACTIONS; GENE-EXPRESSION; RNA-POLYMERASE; HI-C; INSULATOR FUNCTION; ACTIVE CHROMATIN; HUMAN-CELLS; PROMOTER; ORGANIZATION AB Eukaryotic gene expression is regulated by enhancer-promoter interactions but the molecular mechanisms that govern specificity have remained elusive. Genome-wide studies utilizing STARR-seq identified two enhancer classes in Drosophila that interact with different core promoters: housekeeping enhancers (hkCP) and developmental enhancers (dCP). We hypothesized that the two enhancer classes are occupied by distinct architectural proteins, affecting their enhancer-promoter contacts. By evaluating ChIP-seq occupancy of architectural proteins, typical enhancer-associated proteins, and histone modifications, we determine that both enhancer classes are enriched for RNA Polymerase II, CBP, and architectural proteins but there are also distinctions. hkCP enhancers contain H3K4me3 and exclusively bind Cap-H2, Chromator, DREF and Z4, whereas dCP enhancers contain H3K4me1 and are more enriched for Rad21 and Fs(1) h-L. Additionally, we map the interactions of each enhancer class utilizing a Hi-C dataset with <1 kb resolution. Results suggest that hkCP enhancers are more likely to form multi-TSS interaction networks and be associated with topologically associating domain (TAD) borders, while dCP enhancers are more often bound to one or two TSSs and are enriched at chromatin loop anchors. The data support a model suggesting that the unique architectural protein occupancy within en-hancers is one contributor to enhancer-promoter interaction specificity. C1 [Cubenas-Potts, Caelin; Rowley, M. Jordan; Lyu, Xiaowen; Li, Ge; Corces, Victor G.] Emory Univ, Dept Biol, 1510 Clifton Rd NE, Atlanta, GA 30322 USA. [Lei, Elissa P.] NIDDK, Nucl Org & Gene Express Sect, Lab Cellular & Dev Biol, NIH, Bethesda, MD 20892 USA. [Li, Ge] Emory Univ, Div Digest Dis, 1670 Clairmont Rd, Decatur, GA 30033 USA. [Cubenas-Potts, Caelin] Ctr Dis Control & Prevent, Meningitis & Vaccine Preventable Dis Branch, Div Bacterial Dis, Natl Ctr Immunizat & Resp Dis, 1600 Clifton Rd, Atlanta, GA 30333 USA. RP Corces, VG (reprint author), Emory Univ, Dept Biol, 1510 Clifton Rd NE, Atlanta, GA 30322 USA. EM vgcorces@gmail.com FU U.S. Public Health Service Award [R01 GM035463]; National Institutes of Health; National Research Service Award [F32 GM113570] FX U.S. Public Health Service Award R01 GM035463 (to V.G.C.); Intramural Research Program of the NIDDK (to E.L.) from the National Institutes of Health and Ruth L. Kirschstein National Research Service Award F32 GM113570 (to M.J.R.). Funding for open access charge: U.S. Public Health Service Award [R01 GM035463]. Conflict of interest statement. None declared. NR 71 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0305-1048 EI 1362-4962 J9 NUCLEIC ACIDS RES JI Nucleic Acids Res. PD FEB 28 PY 2017 VL 45 IS 4 BP 1714 EP 1730 DI 10.1093/nar/gkw1114 PG 17 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EN5OO UT WOS:000396055400022 ER PT J AU Hamilton, WL Claessens, A Otto, TD Kekre, M Fairhurst, RM Rayner, JC Kwiatkowski, D AF Hamilton, William L. Claessens, Antoine Otto, Thomas D. Kekre, Mihir Fairhurst, Rick M. Rayner, Julian C. Kwiatkowski, Dominic TI Extreme mutation bias and high AT content in plasmodium falciparum SO NUCLEIC ACIDS RESEARCH LA English DT Article ID LOW-COMPLEXITY REGIONS; COPY NUMBER VARIATION; GENOME-WIDE VIEW; MALARIA PARASITE; NUCLEOTIDE SUBSTITUTION; ESCHERICHIA-COLI; DNA-SEQUENCES; VAR GENES; INFECTED ERYTHROCYTES; MOLECULAR-SPECTRUM AB For reasons that remain unknown, the Plasmodium falciparum genome has an exceptionally high AT content compared to other Plasmodium species and eukaryotes in general - nearly 80% in coding regions and approaching 90% in non-coding regions. Here, we examine how this phenomenon relates to genome-wide patterns of de novo mutation. Mutation accumulation experiments were performed by sequential cloning of six P. falciparum isolates growing in human erythrocytes in vitro for 4 years, with 279 clones sampled for whole genome sequencing at different time points. Genome sequence analysis of these samples revealed a significant excess of G:C to A:T transitions compared to other types of nucleotide substitution, which would naturally cause AT content to equilibrate close to the level seen across the P. fal-ciparum reference genome (80.6% AT). These data also uncover an extremely high rate of small indel mutation relative to other species, primarily associated with repetitive AT-rich sequences, in addition to larger-scale structural rearrangements focused in antigen-coding var genes. In conclusion, high AT content in P. falciparum is driven by a systematic mutational bias and ultimately leads to an unusual level of microstructural plasticity, raising the question of whether this contributes to adaptive evolution. C1 [Hamilton, William L.; Claessens, Antoine; Otto, Thomas D.; Kekre, Mihir; Rayner, Julian C.; Kwiatkowski, Dominic] Wellcome Trust Sanger Inst, Malaria Programme, Hinxton CB10 1SA, England. [Hamilton, William L.] Univ Cambridge, Sch Clin Med, Cambridge Biomed Campus,Hills Rd, Cambridge CB2 0SP, England. [Claessens, Antoine] Med Res Council Unit Gambia, Atlantic Rd,POB 273, Banjul, Gambia. [Claessens, Antoine] London Sch Hyg & Trop Med, Dept Pathogen Mol Biol, London WC1E 7HT, England. [Fairhurst, Rick M.] NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD USA. [Kwiatkowski, Dominic] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford OX3 7BN, England. RP Hamilton, WL (reprint author), Wellcome Trust Sanger Inst, Malaria Programme, Hinxton CB10 1SA, England.; Hamilton, WL (reprint author), Univ Cambridge, Sch Clin Med, Cambridge Biomed Campus,Hills Rd, Cambridge CB2 0SP, England. EM will.l.hamilton@gmail.com FU Wellcome Trust [098051]; Medical Research Council [G0600718] FX Wellcome Trust [098051]; Medical Research Council [G0600718]. Funding for open access charge: Wellcome Trust. NR 100 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0305-1048 EI 1362-4962 J9 NUCLEIC ACIDS RES JI Nucleic Acids Res. PD FEB 28 PY 2017 VL 45 IS 4 BP 1889 EP 1901 DI 10.1093/nar/gkw1259 PG 13 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EN5OO UT WOS:000396055400035 ER PT J AU Kirby, TW Gassman, NR Smith, CE Zhao, ML Horton, JK Wilson, SH London, RE AF Kirby, Thomas W. Gassman, Natalie R. Smith, Cassandra E. Zhao, Ming-Lang Horton, Julie K. Wilson, Samuel H. London, Robert E. TI DNA polymerase beta contains a functional nuclear localization signal at its N-terminus SO NUCLEIC ACIDS RESEARCH LA English DT Article ID BASE-EXCISION-REPAIR; IMPORTIN-ALPHA ISOFORMS; TRIPLE-A-SYNDROME; OXIDATIVE-STRESS; IN-VITRO; MOUSE FIBROBLASTS; OVER-EXPRESSION; BREAST-CANCER; CELL-CYCLE; LIGASE I AB DNA polymerase beta (pol beta) requires nuclear localization to fulfil its DNA repair function. Although its small size has been interpreted to imply the absence of a need for active nuclear import, sequence and structural analysis suggests that a monopartite nuclear localization signal (NLS) may reside in the Nterminal lyase domain. Binding of this domain to Importin alpha 1 (Imp alpha 1) was confirmed by gel filtration and NMR studies. Affinity was quantified by fluorescence polarization analysis of a fluorescein-tagged peptide corresponding to pol beta residues 2-13. These studies indicate high affinity binding, characterized by a low micromolar K-d, that is selective for the murine Importin alpha 1 (mImp alpha 1) minor site, with the Kd strengthening to similar to 140 nM for the full lyase domain (residues 2-87). A further reduction in Kd obtains in binding studies with human Importin alpha 5 (hImp alpha 5), which in some cases has been demonstrated to bind small domains connected to the NLS. The role of this NLS was confirmed by fluorescent imaging of wild-type and NLS-mutated pol beta (R4S, K5S) in mouse embryonic fibroblasts lacking endogenous pol beta. Together these data demonstrate that pol beta contains a specific NLS sequence in the N-terminal lyase domain that promotes transport of the protein independent of its interaction partners. Active nuclear uptake allows development of a nuclear/cytosolic concentration gradient against a background of passive diffusion. C1 [Kirby, Thomas W.; Gassman, Natalie R.; Smith, Cassandra E.; Zhao, Ming-Lang; Horton, Julie K.; Wilson, Samuel H.; London, Robert E.] NIEHS, Genome Integr & Struct Biol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. [Gassman, Natalie R.] Univ S Alabama, Mitchell Canc Inst, Mol & Metab Oncol, 1660 Springhill Ave, Mobile, AL 36604 USA. [Smith, Cassandra E.] Univ Colorado, Sch Med, Anschutz Med Campus,Campus Box C296 AMC, Aurora, CO 80045 USA. RP London, RE (reprint author), NIEHS, Genome Integr & Struct Biol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. EM london@niehs.nih.gov FU Intramural Research Program of the NIH, National Institute of Environmental Health Sciences [ZIA ES050111, Z01 ES050158, ES050159, R00ES023813] FX Intramural Research Program of the NIH, National Institute of Environmental Health Sciences [project number ZIA ES050111 to R.E.L. and project numbers Z01 ES050158 and ES050159 to S.H.W., R00ES023813 to N.R.G., in part]. Funding for open access charge: Intramural Research Program of the NIH, National Institute of Environmental Health Sciences [project number ZIA ES050111]. NR 94 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0305-1048 EI 1362-4962 J9 NUCLEIC ACIDS RES JI Nucleic Acids Res. PD FEB 28 PY 2017 VL 45 IS 4 BP 1958 EP 1970 DI 10.1093/nar/gkw1257 PG 13 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EN5OO UT WOS:000396055400040 ER PT J AU Halman, JR Satterwhite, E Roark, B Chandler, M Viard, M Ivanina, A Bindewald, E Kasprzak, WK Panigaj, M Bui, MN Lu, JS Miller, J Khisamutdinov, EF Shapiro, BA Dobrovolskaia, MA Afonin, KA AF Halman, Justin R. Satterwhite, Emily Roark, Brandon Chandler, Morgan Viard, Mathias Ivanina, Anna Bindewald, Eckart Kasprzak, Wojciech K. Panigaj, Martin Bui, My N. Lu, Jacob S. Miller, Johann Khisamutdinov, Emil F. Shapiro, Bruce A. Dobrovolskaia, Marina A. Afonin, Kirill A. TI Functionally-interdependent shape-switching nanoparticles with controllable properties SO NUCLEIC ACIDS RESEARCH LA English DT Article ID RNA-DNA HYBRIDS; SPLIT FUNCTIONALITIES; MAMMALIAN-CELLS; PH CHANGES; PROTEIN; CYTOKINES; NANOTECHNOLOGY; INTERFERENCE; NANOMACHINE; ACTIVATION AB We introduce a new concept that utilizes cognate nucleic acid nanoparticles which are fully complementary and functionally-interdependent to each other. In the described approach, the physical interaction between sets of designed nanoparticles initiates a rapid isothermal shape change which triggers the activation of multiple functionalities and biological pathways including transcription, energy transfer, functional aptamers and RNA interference. The individual nanoparticles are not active and have controllable kinetics of re-association and fine-tunable chemical and thermodynamic stabilities. Computational algorithms were developed to accurately predict melting temperatures of nanoparticles of various compositions and trace the process of their re-association in silico. Additionally, tunable immunostimulatory properties of described nanoparticles suggest that the particles that do not induce pro-inflammatory cytokines and high levels of interferons can be used as scaffolds to carry therapeutic oligonucleotides, while particles with strong interferon and mild proinflammatory cytokine induction may qualify as vaccine adjuvants. The presented concept provides a simple, cost-effective and straightforward model for the development of combinatorial regulation of biological processes in nucleic acid nanotechnology. C1 [Halman, Justin R.; Satterwhite, Emily; Roark, Brandon; Chandler, Morgan; Ivanina, Anna; Afonin, Kirill A.] Univ North Carolina Charlotte, Dept Chem, Nanoscale Sci Program, Charlotte, NC 28223 USA. [Viard, Mathias; Lu, Jacob S.; Miller, Johann; Shapiro, Bruce A.] NCI, RNA Biol Lab, Ctr Canc Res, Frederick, MD 21702 USA. [Viard, Mathias; Bindewald, Eckart; Kasprzak, Wojciech K.] Frederick Natl Lab Canc Res, Basic Sci Program, Leidos Biomed Res Inc, RNA Biol Lab, Frederick, MD 21702 USA. [Panigaj, Martin] Pavol Jozef Safarik Univ Kosice, Inst Biol & Ecol, Fac Sci, Kosice 04154, Slovakia. [Bui, My N.; Khisamutdinov, Emil F.] Ball State Univ, Dept Chem, Muncie, IN 47306 USA. [Dobrovolskaia, Marina A.] Frederick Natl Lab Canc Res, Nanotechnol Characterizat Lab, Canc Res Technol Program, Leidos Biomed Res Inc, Frederick, MD 21702 USA. [Afonin, Kirill A.] Univ North Carolina Charlotte, Ctr Biomed Engn & Sci, Charlotte, NC 28223 USA. RP Afonin, KA (reprint author), Univ North Carolina Charlotte, Dept Chem, Nanoscale Sci Program, Charlotte, NC 28223 USA.; Afonin, KA (reprint author), Univ North Carolina Charlotte, Ctr Biomed Engn & Sci, Charlotte, NC 28223 USA. EM kafonin@uncc.edu RI Nanotechnology Characterization Lab, NCL/K-8454-2012 FU Department of Chemistry UNCC start-up funds; UNCC Faculty Research Grant; Frederick National Laboratory for Cancer Research, National Institutes of Health [HHSN26120080001E]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research; Slovak Academic Information Agency (SAIA) FX The research was supported by Department of Chemistry UNCC start-up funds and UNCC Faculty Research Grant to KAA. MAD, MV, EB, WKK disclose that this project has been funded in whole or in part with Federal funds from the Frederick National Laboratory for Cancer Research, National Institutes of Health, under contract HHSN26120080001E. This Research was supported [in part] by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products or organizations imply endorsement by the U.S. Government. MP participation on the project was supported [in part] by Slovak Academic Information Agency (SAIA). NR 55 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0305-1048 EI 1362-4962 J9 NUCLEIC ACIDS RES JI Nucleic Acids Res. PD FEB 28 PY 2017 VL 45 IS 4 BP 2210 EP 2220 DI 10.1093/nar/gkx008 PG 11 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EN5OO UT WOS:000396055400060 ER PT J AU Chan, WV Pearson, TA Bennett, GC Cushman, WC Gaziano, TA Gorman, PN Handler, J Krumholz, HM Kushner, RF MacKenzie, TD Sacco, RL Smith, SC Stevens, VJ Wells, BL AF Chan, Wiley V. Pearson, Thomas A. Bennett, Glen C. Cushman, William C. Gaziano, Thomas A. Gorman, Paul N. Handler, Joel Krumholz, Harlan M. Kushner, Robert F. MacKenzie, Thomas D. Sacco, Ralph L. Smith, Sidney C., Jr. Stevens, Victor J. Wells, Barbara L. TI ACC/AHA Special Report: Clinical Practice Guideline Implementation Strategies: A Summary of Systematic Reviews by the NHLBI Implementation Science Work Group: A Report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines SO CIRCULATION LA English DT Review DE AHA Scientific Statements; cost; detailing; effectiveness; evidence-based; incentives; interventions; reminders; systematic review ID DECISION-SUPPORT-SYSTEMS; HEALTH-CARE; VENOUS THROMBOEMBOLISM; IMPROVE PROPHYLAXIS; DISEASE MANAGEMENT; PATIENT OUTCOMES; MEDICATION USE; INTERVENTIONS; METAANALYSIS; QUALITY AB Background: In 2008, the National Heart, Lung, and Blood Institute convened an Implementation Science Work Group to assess evidence-based strategies for effectively implementing clinical practice guidelines. This was part of a larger effort to update existing clinical practice guidelines on cholesterol, blood pressure, and overweight/obesity. Objectives: Review evidence from the published implementation science literature and identify effective or promising strategies to enhance the adoption and implementation of clinical practice guidelines. Methods: This systematic review was conducted on 4 critical questions, each focusing on the adoption and effectiveness of 4 intervention strategies: (1) reminders, (2) educational outreach visits, (3) audit and feedback, and (4) provider incentives. A scoping review of the Rx for Change database of systematic reviews was used to identify promising guideline implementation interventions aimed at providers. Inclusion and exclusion criteria were developed a priori for each question, and the published literature was initially searched up to 2012, and then updated with a supplemental search to 2015. Two independent reviewers screened the returned citations to identify relevant reviews and rated the quality of each included review. Results: Audit and feedback and educational outreach visits were generally effective in improving both process of care (15 of 21 reviews and 12 of 13 reviews, respectively) and clinical outcomes (7 of 12 reviews and 3 of 5 reviews, respectively). Provider incentives showed mixed effectiveness for improving both process of care (3 of 4 reviews) and clinical outcomes (3 reviews equally distributed between generally effective, mixed, and generally ineffective). Reminders showed mixed effectiveness for improving process of care outcomes (27 reviews with 11 mixed and 3 generally ineffective results) and were generally ineffective for clinical outcomes (18 reviews with 6 mixed and 9 generally ineffective results). Educational outreach visits (2 of 2 reviews), reminders (3 of 4 reviews), and provider incentives (1 of 1 review) were generally effective for cost reduction. Educational outreach visits (1 of 1 review) and provider incentives (1 of 1 review) were also generally effective for cost-effectiveness outcomes. Barriers to clinician adoption or adherence to guidelines included time constraints (8 reviews/overviews); limited staffing resources (2 overviews); timing (5 reviews/overviews); clinician skepticism (5 reviews/overviews); clinician knowledge of guidelines (4 reviews/overviews); and higher age of the clinician (1 overview). Facilitating factors included guideline characteristics such as format, resources, and end-user involvement (6 reviews/overviews); involving stakeholders (5 reviews/overviews); leadership support (5 reviews/overviews); scope of implementation (5 reviews/overviews); organizational culture such as multidisciplinary teams and low-baseline adherence (9 reviews/overviews); and electronic guidelines systems (3 reviews). Conclusion: The strategies of audit and feedback and educational outreach visits were generally effective in improving both process of care and clinical outcomes. Reminders and provider incentives showed mixed effectiveness, or were generally ineffective. No general conclusion could be reached about cost effectiveness, because of limitations in the evidence. Important gaps exist in the evidence on effectiveness of implementation interventions, especially regarding clinical outcomes, cost effectiveness and contextual issues affecting successful implementation. C1 [Chan, Wiley V.] Kaiser Permanente Northwest, Guidelines & Evidence Based Med, Portland, OR 97210 USA. [Pearson, Thomas A.] Univ Rochester, Med Ctr, Res & Educ, Rochester, NY 14627 USA. [Bennett, Glen C.] NHLBI, Bldg 10, Bethesda, MD 20892 USA. [Cushman, William C.] Univ Tennessee, Hlth Sci Ctr, Preventat Med, Knoxville, TN 37996 USA. [Gaziano, Thomas A.] Harvard Med Sch, Boston, MA USA. [Gaziano, Thomas A.] Brigham & Womens Hosp, Cardiovasc Med, Boston, MA 02115 USA. [Gorman, Paul N.] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. [Handler, Joel] Southern Calif Permanente Med Grp, Portland, OR USA. [Krumholz, Harlan M.] Yale New Haven Med Ctr, 20 York St, New Haven, CT 06504 USA. [Kushner, Robert F.] Northwestern Univ, Med, Evanston, IL 60208 USA. [MacKenzie, Thomas D.] Denver Hlth Fdn, Denver, CO USA. [Sacco, Ralph L.] Univ Miami, Hlth Syst, Dept Neurol, Coral Gables, FL 33124 USA. [Smith, Sidney C., Jr.] Univ North Carolina Chapel Hill, Med, Chapel Hill, NC USA. [Stevens, Victor J.] Kaiser Permanente, Ctr Hlth Res, Portland, OR USA. [Wells, Barbara L.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Chan, WV (reprint author), Kaiser Permanente Northwest, Guidelines & Evidence Based Med, Portland, OR 97210 USA. FU federal funds from the National Heart, Lung, and Blood Institute, National Institutes of Health, US Department of Health and Human Services, under GSA [GS-10F-0112J, HHSN2268201100098U] FX This project was funded in whole or in part with federal funds from the National Heart, Lung, and Blood Institute, National Institutes of Health, US Department of Health and Human Services, under GSA contract No. GS-10F-0112J, Order No. HHSN2268201100098U. NR 54 TC 0 Z9 0 U1 3 U2 3 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0009-7322 EI 1524-4539 J9 CIRCULATION JI Circulation PD FEB 28 PY 2017 VL 135 IS 9 BP E122 EP E137 DI 10.1161/CIR.0000000000000481 PG 16 WC Cardiac & Cardiovascular Systems; Peripheral Vascular Disease SC Cardiovascular System & Cardiology GA EM8GO UT WOS:000395549700002 PM 28126839 ER PT J AU Larson, CL Heinzen, RA AF Larson, Charles L. Heinzen, Robert A. TI High-Content Imaging Reveals Expansion of the Endosomal Compartment during Coxiella burnetii Parasitophorous Vacuole Maturation SO FRONTIERS IN CELLULAR AND INFECTION MICROBIOLOGY LA English DT Article DE endosome; lysosome; intracellular pathogen; endocytic trafficking; fluorescence microscopy; Chlamydia trachomatis; Coxiella burnetii ID CHLAMYDIAL INCLUSION; LYSOSOMAL BIOGENESIS; HOST-CELL; PATHWAY; TRAFFICKING; TRANSFERRIN; REPLICATE; INFECTION; AUTOPHAGY; PROTEINS AB Coxiella burnetii is an obligate intracellular pathogen and the causative agent of human Q fever. Replication of the bacteriumwithin a large parasitophorous vacuole (PV) resembling a host phagolysosome is required for pathogenesis. PV biogenesis is a pathogen driven process that requires engagement of several host cell vesicular trafficking pathways to acquire vacuole components. The goal of this study was to determine if infection by C. burnetii modulates endolysosomal flux to potentially benefit PV formation. HeLa cells, infected with C. burnetii or left uninfected, were incubated with fluorescent transferrin (Tf) for 0-30 min, and the amount of Tf internalized by cells quantitated by high-content imaging. At 3 and 5 days, but not 1 day post-infection, the maximal amounts of fluorescent Tf internalized by infected cells were significantly greater than uninfected cells. The rates of Tf uptake and recycling were the same for infected and uninfected cells; however, residual Tf persisted in EEA. 1 positive compartments adjacent to large PV after 30 min of recycling in the absence of labeled Tf. On average, C. burnetii-infected cells contained significantlymore CD63-positive endosomes than uninfected cells. In contrast, cells containing large vacuoles generated by Chlamydia trachomatis exhibited increased rates of Tf internalization without increased CD63 expression. Our results suggest that C. burnetii infection expands the endosomal system to increase capacity for endocytic material. Furthermore, this study demonstrates the power of high-content imaging for measurement of cellular responses to infection by intracellular pathogens. C1 [Larson, Charles L.; Heinzen, Robert A.] NIAID, Coxiella Pathogenesis Sect, Bacteriol Lab, Rocky Mt Labs,NIH, Hamilton, MT 59840 USA. RP Heinzen, RA (reprint author), NIAID, Coxiella Pathogenesis Sect, Bacteriol Lab, Rocky Mt Labs,NIH, Hamilton, MT 59840 USA. EM rheinzen@niaid.nih.gov FU Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health [ZAI AI000931] FX This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health #ZAI AI000931 to RH. NR 39 TC 0 Z9 0 U1 1 U2 1 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 2235-2988 J9 FRONT CELL INFECT MI JI Front. Cell. Infect. Microbiol. PD FEB 28 PY 2017 VL 7 AR 48 DI 10.3389/fcimb.2017.00048 PG 10 WC Immunology; Microbiology SC Immunology; Microbiology GA EL8UX UT WOS:000394896900001 PM 28293541 ER PT J AU Truzzi, A Bornstein, MH Senese, VP Shinohara, K Setoh, P Esposito, G AF Truzzi, Anna Bornstein, Marc H. Senese, Vincenzo P. Shinohara, Kazuyuki Setoh, Peipei Esposito, Gianluca TI Serotonin Transporter Gene Polymorphisms and Early Parent-Infant Interactions Are Related to Adult Male Heart Rate Response to Female Crying SO FRONTIERS IN PHYSIOLOGY LA English DT Article DE parent-infant interaction; serotonin transporter gene; opposite-sex conspecific interaction; gene* environment; physiological responses; social distress ID ENVIRONMENT INTERACTION; ROMANTIC RELATIONSHIPS; ATTACHMENT STYLES; SOCIAL-SKILLS; LIFE EVENTS; 5-HTTLPR; DEPRESSION AB Adults' adaptive interactions with intimate partners enhance well-being. Here we hypothesized that adult males' physiological responses to opposite-sex conspecifics' distress result from an interaction between an environmental factor (early social interaction with caregivers) and a genetic factor (a polymorphism within the promoter region of the serotonin transporter gene, 5-HTTLPR). We assessed heart rate changes in 42 non-married male adults to distress vocalizations (female, infant, and bonobo cries). Males' early interaction with parents was assessed using the Parental Bonding Instrument. Buccal mucosa cell samples were collected to assess their 5-HTTLPR genotype. A significant interaction emerged between early experience and genetic predisposition. Males with a genetic predisposition for higher sensitivity to environmental factors showed atypical physiological responses to adult female cries according to their experienced early maternal parenting. Environmental experiences and genetic characteristics are associated with adult males' physiological responses to socially meaningfully stimuli. Understanding the mechanisms that modulate responses to opposite-sex conspecifics may improve personal well-being and social adaptiveness. C1 [Truzzi, Anna; Esposito, Gianluca] Univ Trento, Dept Psychol & Cognit Sci, Rovereto, Italy. [Truzzi, Anna] RIKEN, Brain Sci Inst, Lab Affiliat Social Behav, Saitama, Japan. [Bornstein, Marc H.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Child & Family Res, Bethesda, MD USA. [Senese, Vincenzo P.] Univ Naples 2, Dept Psychol, Psychometr Lab, Naples, Italy. [Shinohara, Kazuyuki] Nagasaki Univ, Dept Neurobiol & Behav, Unit Basic Med Sci, Nagasaki, Japan. [Setoh, Peipei; Esposito, Gianluca] Nanyang Technol Univ, Sch Humanities & Social Sci, Div Psychol, Singapore, Singapore. RP Esposito, G (reprint author), Univ Trento, Dept Psychol & Cognit Sci, Rovereto, Italy.; Esposito, G (reprint author), Nanyang Technol Univ, Sch Humanities & Social Sci, Div Psychol, Singapore, Singapore. EM gianluca.esposito@unitn.it FU Intramural Research Program of the NIH; NICHD; NAP-SUG program of the Nanyang Technological University FX All participants in this study are gratefully acknowledged. This research was partially supported by the Intramural Research Program of the NIH, NICHD as well as the NAP-SUG program of the Nanyang Technological University. NR 29 TC 0 Z9 0 U1 0 U2 0 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1664-042X J9 FRONT PHYSIOL JI Front. Physiol. PD FEB 28 PY 2017 VL 8 AR 111 DI 10.3389/fphys.2017.00111 PG 6 WC Physiology SC Physiology GA EL7PH UT WOS:000394812500001 PM 28293197 ER PT J AU Chan, WV Pearson, TA Bennett, GC Cushman, WC Gaziano, TA Gorman, PN Handler, J Krumholz, HM Kushner, RF MacKenzie, TD Sacco, RL Smith, SC Stevens, VJ Wells, BL AF Chan, Wiley V. Pearson, Thomas A. Bennett, Glen C. Cushman, William C. Gaziano, Thomas A. Gorman, Paul N. Handler, Joel Krumholz, Harlan M. Kushner, Robert F. MacKenzie, Thomas D. Sacco, Ralph L. Smith, Sidney C., Jr. Stevens, Victor J. Wells, Barbara L. TI ACC/AHA Special Report: Clinical Practice Guideline Implementation Strategies: A Summary of Systematic Reviews by the NHLBI Implementation Science Work Group SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Article DE ACC/AHA Clinical Practice Guideline; evidence-based; effectiveness; interventions; detailing; incentives; reminders; cost; systematic review ID DECISION-SUPPORT-SYSTEMS; HEALTH-CARE; VENOUS THROMBOEMBOLISM; IMPROVE PROPHYLAXIS; DISEASE MANAGEMENT; PATIENT OUTCOMES; MEDICATION USE; INTERVENTIONS; METAANALYSIS; QUALITY AB BACKGROUND In 2008, the National Heart, Lung, and Blood Institute convened an Implementation Science Work Group to assess evidence-based strategies for effectively implementing clinical practice guidelines. This was part of a larger effort to update existing clinical practice guidelines on cholesterol, blood pressure, and overweight/obesity. OBJECTIVES Review evidence from the published implementation science literature and identify effective or promising strategies to enhance the adoption and implementation of clinical practice guidelines. METHODS This systematic review was conducted on 4 critical questions, each focusing on the adoption and effectiveness of 4 intervention strategies: (1) reminders, (2) educational outreach visits, (3) audit and feedback, and (4) provider incentives. A scoping review of the Rx for Change database of systematic reviews was used to identify promising guideline implementation interventions aimed at providers. Inclusion and exclusion criteria were developed a priori for each question, and the published literature was initially searched up to 2012, and then updated with a supplemental search to 2015. Two independent reviewers screened the returned citations to identify relevant reviews and rated the quality of each included review. RESULTS Audit and feedback and educational outreach visits were generally effective in improving both process of care (15 of 21 reviews and 12 of 13 reviews, respectively) and clinical outcomes (7 of 12 reviews and 3 of 5 reviews, respectively). Provider incentives showed mixed effectiveness for improving both process of care (3 of 4 reviews) and clinical outcomes (3 reviews equally distributed between generally effective, mixed, and generally ineffective). Reminders showed mixed effectiveness for improving process of care outcomes (27 reviews with 11 mixed and 3 generally ineffective results) and were generally ineffective for clinical outcomes (18 reviews with 6 mixed and 9 generally ineffective results). Educational outreach visits (2 of 2 reviews), reminders (3 of 4 reviews), and provider incentives (1 of 1 review) were generally effective for cost reduction. Educational outreach visits (1 of 1 review) and provider incentives (1 of 1 review) were also generally effective for cost-effectiveness outcomes. Barriers to clinician adoption or adherence to guidelines included time constraints (8 reviews/overviews); limited staffing resources (2 overviews); timing (5 reviews/overviews); clinician skepticism (5 reviews/overviews); clinician knowledge of guidelines (4 reviews/overviews); and higher age of the clinician (1 overview). Facilitating factors included guideline characteristics such as format, resources, and end-user involvement (6 reviews/overviews); involving stakeholders (5 reviews/overviews); leadership support (5 reviews/overviews); scope of implementation (5 reviews/overviews); organizational culture such as multidisciplinary teams and low-baseline adherence (9 reviews/overviews); and electronic guidelines systems (3 reviews). CONCLUSION The strategies of audit and feedback and educational outreach visits were generally effective in improving both process of care and clinical outcomes. Reminders and provider incentives showed mixed effectiveness, or were generally ineffective. No general conclusion could be reached about cost effectiveness, because of limitations in the evidence. Important gaps exist in the evidence on effectiveness of implementation interventions, especially regarding clinical outcomes, cost effectiveness and contextual issues affecting successful implementation. C1 [Chan, Wiley V.; Cushman, William C.; Gaziano, Thomas A.; Gorman, Paul N.; Handler, Joel; Krumholz, Harlan M.; Kushner, Robert F.; MacKenzie, Thomas D.; Sacco, Ralph L.; Smith, Sidney C., Jr.; Stevens, Victor J.; Wells, Barbara L.] NHLBI, Implementat Sci Work Grp, Bldg 10, Bethesda, MD 20892 USA. [Bennett, Glen C.] NHLBI, Ctr Translat Res & Implementat Sci, Bldg 10, Bethesda, MD 20892 USA. [Cushman, William C.] Vet Affairs Med Ctr, Memphis, TN USA. [Wells, Barbara L.] NHLBI, Div Cardiovasc Sci, Bldg 10, Bethesda, MD 20892 USA. RP Chan, WV (reprint author), NHLBI, Implementat Sci Work Grp, Bldg 10, Bethesda, MD 20892 USA. FU National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services under GSA [GS-10F-0112J, HHSN2268201100098U] FX This project was funded in whole or in part with federal funds from the National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services, under GSA contract No. GS-10F-0112J, Order No. HHSN2268201100098U. NR 54 TC 0 Z9 0 U1 2 U2 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD FEB 28 PY 2017 VL 69 IS 8 BP 1076 EP 1092 DI 10.1016/j.jacc.2016.11.004 PG 17 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EN9YY UT WOS:000396356700013 PM 28132746 ER PT J AU Schneller, JL Lee, CM Bao, G Venditti, CP AF Schneller, Jessica L. Lee, Ciaran M. Bao, Gang Venditti, Charles P. TI Genome editing for inborn errors of metabolism: advancing towards the clinic SO BMC MEDICINE LA English DT Review DE Inborn errors of metabolism; Genome editing; CRISPR/Cas9; Zinc-finger nucleases; Liver metabolic disorders ID ADENOASSOCIATED VIRUS VECTORS; STAPHYLOCOCCUS-AUREUS CAS9; ZINC-FINGER NUCLEASES; UREA CYCLE DISORDERS; IN-VIVO; MOUSE MODEL; GENE-THERAPY; MUSCULAR-DYSTROPHY; MESSENGER-RNA; OFF-TARGET AB Inborn errors of metabolism (IEM) include many disorders for which current treatments aim to ameliorate disease manifestations, but are not curative. Advances in the field of genome editing have recently resulted in the in vivo correction of murine models of IEM. Site-specific endonucleases, such as zinc-finger nucleases and the CRISPR/Cas9 system, in combination with delivery vectors engineered to target disease tissue, have enabled correction of mutations in disease models of hemophilia B, hereditary tyrosinemia type I, ornithine transcarbamylase deficiency, and lysosomal storage disorders. These in vivo gene correction studies, as well as an overview of genome editing and future directions for the field, are reviewed and discussed herein. C1 [Schneller, Jessica L.] SUNY Stony Brook, Dept Biomed Engn, Stony Brook, NY USA. [Schneller, Jessica L.; Venditti, Charles P.] NHGRI, Med Genom & Metab Genet Branch, NIH, Bldg 10,Room,7N248A, Bethesda, MD 20892 USA. [Lee, Ciaran M.; Bao, Gang] Rice Univ, Dept Bioengn, 6500 Main St, Houston, TX 77030 USA. RP Venditti, CP (reprint author), NHGRI, Med Genom & Metab Genet Branch, NIH, Bldg 10,Room,7N248A, Bethesda, MD 20892 USA. EM venditti@mail.nih.gov OI Lee, Ciaran/0000-0002-0789-9149 FU National Institutes of Health; Cancer Prevention and Research Institute of Texas [RR140081] FX JLS and CPV were supported by the intramural research program of the National Human Genome Research Institute in the National Institutes of Health. This work was supported in part by the Cancer Prevention and Research Institute of Texas (RR140081 to GB). NR 81 TC 0 Z9 0 U1 1 U2 1 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1741-7015 J9 BMC MED JI BMC Med. PD FEB 27 PY 2017 VL 15 AR 43 DI 10.1186/s12916-017-0798-4 PG 12 WC Medicine, General & Internal SC General & Internal Medicine GA EN5UD UT WOS:000396070300001 PM 28238287 ER PT J AU Jackson, LH Vlachodimitropoulou, E Shangaris, P Roberts, TA Ryan, TM Campbell-Washburn, AE David, AL Porter, JB Lythgoe, MF Stuckey, DJ AF Jackson, Laurence H. Vlachodimitropoulou, Evangelia Shangaris, Panicos Roberts, Thomas A. Ryan, Thomas M. Campbell-Washburn, Adrienne E. David, Anna L. Porter, John B. Lythgoe, Mark F. Stuckey, Daniel J. TI Non-invasive MRI biomarkers for the early assessment of iron overload in a humanized mouse model of beta-thalassemia SO SCIENTIFIC REPORTS LA English DT Article ID SICKLE-CELL-DISEASE; MAGNETIC-RESONANCE; GLOBIN GENE; T2 MEASUREMENT; MYOCARDIAL T2; CARDIAC IRON; STEM-CELLS; SURVIVAL; BETA(0)-THALASSEMIA; CARDIOMYOPATHY AB beta-thalassemia (beta T) is a genetic blood disorder causing profound and life threatening anemia. Current clinical management of beta T is a lifelong dependence on regular blood transfusions, a consequence of which is systemic iron overload leading to acute heart failure. Recent developments in gene and chelation therapy give hope of better prognosis for patients, but successful translation to clinical practice is hindered by the lack of thorough preclinical testing using representative animal models and clinically relevant quantitative biomarkers. Here we demonstrate a quantitative and non-invasive preclinical Magnetic Resonance Imaging (MRI) platform for the assessment of beta T in the.gamma beta(0)/gamma beta(A) humanized mouse model of beta T. Changes in the quantitative MRI relaxation times as well as severe splenomegaly were observed in the heart, liver and spleen in beta T. These data showed high sensitivity to iron overload and a strong relationship between quantitative MRI relaxation times and hepatic iron content. Importantly these changes preceded the onset of iron overload cardiomyopathy, providing an early biomarker of disease progression. This work demonstrates that multiparametric MRI is a powerful tool for the assessment of preclinical beta T, providing sensitive and quantitative monitoring of tissue iron sequestration and cardiac dysfunction-parameters essential for the preclinical development of new therapeutics. C1 [Jackson, Laurence H.; Roberts, Thomas A.; Lythgoe, Mark F.; Stuckey, Daniel J.] UCL, Div Med, Ctr Adv Biomed Imaging, London, England. [Vlachodimitropoulou, Evangelia; Porter, John B.] UCL, Dept Haematol, London, England. [Shangaris, Panicos; David, Anna L.] UCL, Inst Womens Hlth, London, England. [Ryan, Thomas M.] Univ Alabama Birmingham, Dept Biochem & Mol Genet, Birmingham, AL USA. [Campbell-Washburn, Adrienne E.] NHLBI, Lab Imaging Technol, Biochem & Biophys Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Stuckey, DJ (reprint author), UCL, Div Med, Ctr Adv Biomed Imaging, London, England. EM d.stuckey@ucl.ac.uk FU Medical Research Council, UK [MR/K50077X/1]; Medical Research Council [MR/J013110/1]; King's College London; UCL Comprehensive Cancer Imaging Centre CR-UK; EPSRC; MRC (England); DoH (England); National Centre for the Replacement, Reduction and Refinement of Animal in Research (NC3Rs); UK Regenerative Medicine Platform Safety Hub [MRC: MR/K026739/1]; Eli Lilly and Company; Wellcome Trust Sparks Research Training Fellowship FX DJS is a BHF Intermediate Basic Science Research Fellow (FS/15/33/31608). LHJ is supported by the Medical Research Council, UK (MR/K50077X/1). ML receives funding from Medical Research Council (MR/J013110/1); the King's College London and UCL Comprehensive Cancer Imaging Centre CR-UK & EPSRC, in association with the MRC and DoH (England); the National Centre for the Replacement, Reduction and Refinement of Animal in Research (NC3Rs); UK Regenerative Medicine Platform Safety Hub (MRC: MR/K026739/1); Eli Lilly and Company. EVK is an Onassis Scholar (Athens, Greece). This study was supported by researchers at the National Institute for Health Research University College London Hospitals Biomedical Research Centre (ALD). PS is funded by a Wellcome Trust Sparks Research Training Fellowship. NR 47 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 27 PY 2017 VL 7 AR 43439 DI 10.1038/srep43439 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL8NZ UT WOS:000394878300001 PM 28240317 ER PT J AU Sowrirajan, B Saito, Y Poudyal, D Chen, Q Sui, HY DeRavin, SS Imamichi, H Sato, T Kuhns, DB Noguchi, N Malech, HL Lane, HC Imamichi, T AF Sowrirajan, Bharatwaj Saito, Yoshiro Poudyal, Deepak Chen, Qian Sui, Hongyan DeRavin, Suk See Imamichi, Hiromi Sato, Toyotaka Kuhns, Douglas B. Noguchi, Noriko Malech, Harry L. Lane, H. Clifford Imamichi, Tomozumi TI Interleukin-27 Enhances the Potential of Reactive Oxygen Species Generation from Monocyte-derived Macrophages and Dendritic cells by Induction of p47(phox) SO SCIENTIFIC REPORTS LA English DT Article ID EXTRACELLULAR-SUPEROXIDE DISMUTASE; FAMILY NADPH OXIDASES; CD4(+) T-CELLS; HIV-1 INFECTION; COMPLETE REGRESSION; IL-27; EXPRESSION; ACTIVATION; CARCINOMA; ANTITUMOR AB Interleukin (IL)-27, a member of the IL-12 cytokine family, plays an important and diverse role in the function of the immune system. We have previously demonstrated that IL-27 is an anti-viral cytokine which inhibits HIV-1, HIV-2, Influenza virus and herpes simplex virus infection, and enhances the potential of reactive oxygen species (ROS) generating activity during differentiation of monocytes to macrophages. In this study, we further investigated the mechanism of the enhanced potential for ROS generation by IL-27. Real time PCR, western blot and knock down assays demonstrate that IL-27 is able to enhance the potential of superoxide production not only during differentiation but also in terminally differentiated-macrophages and immature dendritic cells (iDC) in association with the induction of p47(phox), a cytosolic component of the ROS producing enzyme, NADPH oxidase, and the increase in amounts of phosphorylated p47phox upon stimulation. We also demonstrate that IL-27 is able to induce extracellular superoxide dismutase during differentiation of monocytes but not in terminal differentiated macrophages. Since ROS plays an important role in a variety of inflammation, our data demonstrate that IL-27 is a potent regulator of ROS induction and may be a novel therapeutic target. C1 [Sowrirajan, Bharatwaj; Poudyal, Deepak; Chen, Qian; Sui, Hongyan; Sato, Toyotaka; Imamichi, Tomozumi] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Lab Human Retrovirol & Immunoinformat, Frederick, MD 21702 USA. [Saito, Yoshiro; Noguchi, Noriko] Doshisha Univ, Fac Life & Med Sci, Dept Med Life Syst, Syst Life Sci Lab, Kyoto 6100394, Japan. [DeRavin, Suk See; Malech, Harry L.] NIAID, Lab Host Defenses, NIH, Bethesda, MD 20802 USA. [Imamichi, Hiromi; Lane, H. Clifford] NIAID, Lab Immunoregulat, NIH, Bethesda, MD 20892 USA. [Kuhns, Douglas B.] Leidos Biomed Res Inc, Neutrophil Monitoring Lab, Frederick Natl Lab Canc Res, Frederick, MD 21702 USA. RP Imamichi, T (reprint author), Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Lab Human Retrovirol & Immunoinformat, Frederick, MD 21702 USA. EM timamichi@mail.nih.gov OI Saito, Yoshiro/0000-0002-0559-5889 FU National Cancer Institute, National Institutes of Health [HHSN261200800001E]; National Institute of Allergy and Infectious Diseases FX Authors thank Dr. T. Kamata for discussion and B. Sherman for critical reading. This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. This research was supported [in part] by the National Institute of Allergy and Infectious Diseases. NR 53 TC 0 Z9 0 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 27 PY 2017 VL 7 AR 43441 DI 10.1038/srep43441 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL8OI UT WOS:000394879200001 PM 28240310 ER PT J AU Chan, M Elias, C Fauci, A Lake, A Berkley, S AF Chan, Margaret Elias, Chris Fauci, Anthony Lake, Anthony Berkley, Seth TI Reaching everyone, everywhere with life-saving vaccines SO LANCET LA English DT Editorial Material C1 [Chan, Margaret] WHO, Geneva, Switzerland. [Elias, Chris] Bill & Melinda Gates Fdn, Seattle, WA 98109 USA. [Fauci, Anthony] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Lake, Anthony] United Nations Childrens Fund, New York, NY USA. [Berkley, Seth] Gavi, Geneva, Switzerland. RP Elias, C (reprint author), Bill & Melinda Gates Fdn, Seattle, WA 98109 USA. NR 8 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0140-6736 EI 1474-547X J9 LANCET JI Lancet PD FEB 25 PY 2017 VL 389 IS 10071 BP 777 EP 779 PG 3 WC Medicine, General & Internal SC General & Internal Medicine GA EL9UU UT WOS:000394966400011 PM 28248159 ER PT J AU Ginsburg, O Badwe, R Boyle, P Derricks, G Dare, A Evans, T Eniu, A Jimenez, J Kutluk, T Lopes, G Mohammed, SI Qiao, YL Rashid, SF Summers, D Sarfati, D Temmerman, M Trimble, EL Padela, AI Aggarwal, A Sullivan, R AF Ginsburg, Ophira Badwe, Rajan Boyle, Peter Derricks, Gemma Dare, Anna Evans, Tim Eniu, Alexandru Jimenez, Jorge Kutluk, Tezer Lopes, Gilberto Mohammed, Sulma I. Qiao, You-Lin Rashid, Sabina Faiz Summers, Diane Sarfati, Diana Temmerman, Marleen Trimble, Edward L. Padela, Aasim I. Aggarwal, Ajay Sullivan, Richard TI Changing global policy to deliver safe, equitable, and affordable care for women's cancers SO LANCET LA English DT Article ID UNIVERSAL HEALTH COVERAGE; HIGH-INCOME COUNTRIES; BREAST-CANCER; SCREENING PRACTICES; AMERICAN MUSLIMS; DISEASE BURDEN; MORTALITY; MIDDLE; INDIA; AFRICA AB Breast and cervical cancer are major threats to the health of women globally, particularly in low-income and middle-income countries. Radical progress to close the global cancer divide for women requires not only evidence-based policy making, but also broad multisectoral collaboration that capitalises on recent progress in the associated domains of women's health and innovative public health approaches to cancer care and control. Such multisectoral collaboration can serve to build health systems for cancer, and more broadly for primary care, surgery, and pathology. This Series paper explores the global health and public policy landscapes that intersect with women's health and global cancer control, with new approaches to bringing policy to action. Cancer is a major global social and political priority, and women's cancers are not only a tractable socioeconomic policy target in themselves, but also an important Trojan horse to drive improved cancer control and care. C1 [Ginsburg, Ophira] Univ Toronto, Dalla Lana Sch Publ Hlth, Fac Med, Womens Coll Res Inst, Toronto, ON, Canada. [Ginsburg, Ophira; Temmerman, Marleen] WHO, Geneva, Switzerland. [Badwe, Rajan] Tata Mem Hosp, Bombay, Maharashtra, India. [Boyle, Peter] Int Prevent Res Inst, Lyon, France. [Boyle, Peter] Univ Strathclyde, Inst Global Publ Hlth iPRI, Glasgow, Lanark, Scotland. [Derricks, Gemma] Brunel Univ, London, England. [Dare, Anna] Univ Toronto, Ctr Global Hlth Res, Toronto, ON, Canada. [Dare, Anna] Univ Toronto, Dept Surg, Toronto, ON, Canada. [Evans, Tim] World Bank Grp, Hlth Nutr & Populat Global Practice, Washington, DC USA. [Eniu, Alexandru] Canc Inst Ion Chiricuta, Cluj Napoca, Romania. [Jimenez, Jorge] Pontificia Univ Catolica Chile, Santiago, Chile. [Kutluk, Tezer] Hacettepe Univ, Dept Pediat Oncol, Ankara, Turkey. [Lopes, Gilberto] Oncoclin Grp, Sao Paulo, Brazil. [Lopes, Gilberto] Univ Miami, Miller Sch Med, Coral Gables, FL 33124 USA. [Mohammed, Sulma I.] Purdue Univ, Purdue Ctr Canc Res, W Lafayette, IN 47907 USA. [Mohammed, Sulma I.] Indiana Univ Sch Med, Indianapolis, IN 46202 USA. [Qiao, You-Lin] Chinese Acad Med Sci, Natl Canc Ctr, Dept Canc Epidemiol, Beijing, Peoples R China. [Qiao, You-Lin] Peking Union Med Coll, Beijing, Peoples R China. [Rashid, Sabina Faiz] BRAC Univ, James P Grant Sch Publ Hlth, Dhaka, Bangladesh. [Summers, Diane] UNICEF, South Asia Reg Off, Kathmandu, Nepal. [Sarfati, Diana] Univ Otago, Dept Publ Hlth, Wellington, New Zealand. [Temmerman, Marleen] Univ Ghent, Ghent, Belgium. [Temmerman, Marleen] Aga Khan Univ, Nairobi, Kenya. [Trimble, Edward L.] NCI, Ctr Global Hlth, Bethesda, MD 20892 USA. [Padela, Aasim I.] Univ Chicago, Initiat Islam & Med, Chicago, IL 60637 USA. [Padela, Aasim I.] Univ Chicago, Dept Med, Chicago, IL 60637 USA. [Aggarwal, Ajay] London Sch Hyg & Trop, London, England. [Aggarwal, Ajay; Sullivan, Richard] Kings Hlth Partners, Kings Ctr Global Hlth, Kings Hlth Partners Comprehens Canc Ctr, Inst Canc Policy, London, England. [Aggarwal, Ajay; Sullivan, Richard] Kings Coll London, London, England. Univ Toronto, Womens Coll Hosp, Toronto, ON M5S 1B2, Canada. RP Ginsburg, O (reprint author), Univ Toronto, Womens Coll Hosp, 75 Grenville St, Toronto, ON M5S 1B2, Canada. EM ophira.ginsburg@wchospital.ca OI Sullivan, Richard/0000-0002-6435-1825 FU Canadian Institutes for Health Research; Dalla Lana School of Public Health, University of Toronto; EU Commission [602536]; American Cancer Society [MRSG-14-032-01-CPPB] FX This work was part funded by Canadian Institutes for Health Research and the Dalla Lana School of Public Health, University of Toronto, and the EU Commission Grant Mapping NCD (no: 602536). OG thanks Ms Sabiha Merchant (Women's College Research Institute, Toronto, ON, Canada) for administrative support. RS thanks the NCI Centre for Global Health for their core support and Dr G Lewison and Miss M Begum for research analysis (Institue of Cancer Policy, King's College London, London, UK). AIP was supported by a Mentored Research Scholar Grant in Applied and Clinical Research (MRSG-14-032-01-CPPB), from the American Cancer Society. The opinions expressed here are those of the authors and do not necessarily represent an official position of the organisations with which they are affiliated. NR 71 TC 0 Z9 0 U1 2 U2 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0140-6736 EI 1474-547X J9 LANCET JI Lancet PD FEB 25 PY 2017 VL 389 IS 10071 BP 871 EP 880 DI 10.1016/S0140-6736(16)31393-9 PG 10 WC Medicine, General & Internal SC General & Internal Medicine GA EL9UU UT WOS:000394966400039 PM 27814964 ER PT J AU Chawla, B Hedman, AC Sayedyahossein, S Erdemir, HH Li, ZG Sacks, DB AF Chawla, Bhavna Hedman, Andrew C. Sayedyahossein, Samar Erdemir, Huseyin H. Li, Zhigang Sacks, David B. TI Absence of IQGAP1 Protein Leads to Insulin Resistance SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article DE Akt PKB; insulin; insulin receptor; insulin receptor substrate 1 (IRS-1); insulin resistance; mitogen-activated protein kinase (MAPK); phosphatidylinositide 3-kinase (PI 3-kinase); IQGAP1 ID PLECKSTRIN-HOMOLOGY DOMAIN; HEPATOCELLULAR-CARCINOMA; MICE LACKING; PTB DOMAIN; IQ MOTIFS; RECEPTOR; IRS-1; SCAFFOLD; BINDING; ACTIVATION AB Insulin binds to the insulin receptor (IR) and induces tyrosine phosphorylation of the receptor and insulin receptor substrate-1 (IRS-1), leading to activation of the PKB/Akt and MAPK/ERK pathways. IQGAP1 is a scaffold protein that interacts with multiple binding partners and integrates diverse signaling cascades. Here we show that IQGAP1 associates with both IR and IRS-1 and influences insulin action. In vitro analysis with pure proteins revealed that the IQ region of IQGAP1 binds directly to the intracellular domain of IR. Similarly, the phosphotyrosine-binding domain of IRS-1 mediates a direct interaction with the C-terminal tail of IQGAP1. Consistent with these observations, both IR and IRS-1 co-immunoprecipitated with IQGAP1 from cells. Investigation of the functional effects of the interactions revealed that in the absence of IQGAP1, insulin-stimulated phosphorylation of Akt and ERK, as well as the association of phosphatidylinositol 3-kinase with IRS-1, were significantly decreased. Importantly, loss of IQGAP1 results in impaired insulin signaling and glucose homeostasis in vivo. Collectively, these data reveal that IQGAP1 is a scaffold for IR and IRS-1 and implicate IQGAP1 as a participant in insulin signaling. C1 [Chawla, Bhavna; Hedman, Andrew C.; Sayedyahossein, Samar; Erdemir, Huseyin H.; Li, Zhigang; Sacks, David B.] NIH, Dept Lab Med, 10 Ctr Dr,10-2C306, Bethesda, MD 20892 USA. [Chawla, Bhavna] US FDA, Ctr Biol Evaluat & Res, Div Emerging & Transfus Transmitted Dis, Silver Spring, MD 20993 USA. [Erdemir, Huseyin H.] Cleveland Clin, Dept Pediat Hematol Oncol, Cleveland, OH 44195 USA. [Erdemir, Huseyin H.] Cleveland Clin, BMT, Cleveland, OH 44195 USA. RP Sacks, DB (reprint author), NIH, Dept Lab Med, 10 Ctr Dr,10-2C306, Bethesda, MD 20892 USA. EM david.sacks2@nih.gov OI Sacks, David/0000-0003-3100-0735 FU National Institutes of Health Intramural Research Program FX This work was supported by the National Institutes of Health Intramural Research Program. The authors declare that they have no conflicts of interest with the contents of this article. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 53 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD FEB 24 PY 2017 VL 292 IS 8 BP 3273 EP 3289 DI 10.1074/jbc.M116.752642 PG 17 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EM8CM UT WOS:000395538800019 PM 28082684 ER PT J AU Carrer, A Parris, JLD Trefely, S Henry, RA Montgomery, DC Torres, A Viola, JM Kuo, YM Blair, IA Meier, JL Andrews, AJ Snyder, NW Wellen, KE AF Carrer, Alessandro Parris, Joshua L. D. Trefely, Sophie Henry, Ryan A. Montgomery, David C. Torres, AnnMarie Viola, John M. Kuo, Yin-Ming Blair, Ian A. Meier, Jordan L. Andrews, Andrew J. Snyder, Nathaniel W. Wellen, Kathryn E. TI Impact of a High-fat Diet on Tissue Acyl-CoA and Histone Acetylation Levels SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article DE Acetyl-CoA; adipose tissue; diet; histone acetylation; liver ID ATP-CITRATE-LYASE; ONE-CARBON METABOLISM; CELLULAR-METABOLISM; DNA METHYLATION; DYNAMICS; TRANSCRIPTION; EPIGENETICS; MECHANISMS; COENZYME; CANCER AB Cellular metabolism dynamically regulates the epigenome via availability of the metabolite substrates of chromatin-modifying enzymes. The impact of diet on the metabolism-epigenome axis is poorly understood but could alter gene expression and influence metabolic health. ATP citrate-lyase produces acetyl-CoA in the nucleus and cytosol and regulates histone acetylation levels in many cell types. Consumption of a high-fat diet (HFD) results in suppression of ATP citrate-lyase levels in tissues such as adipose and liver, but the impact of diet on acetyl-CoA and histone acetylation in these tissues remains unknown. Here we examined the effects of HFD on levels of acyl-CoAs and histone acetylation in mouse white adipose tissue (WAT), liver, and pancreas. We report that mice consuming a HFD have reduced levels of acetyl-CoA and/or acetyl-CoA:CoA ratio in these tissues. In WAT and the pancreas, HFD also impacted the levels of histone acetylation; in particular, histone H3 lysine 23 acetylation was lower in HFD-fed mice. Genetic deletion of Acly in cultured adipocytes also suppressed acetyl-CoA and histone acetylation levels. In the liver, no significant effects on histone acetylation were observed with a HFD despite lower acetyl-CoA levels. Intriguingly, acetylation of several histone lysines correlated with the acetyl-CoA: (iso)butyryl-CoA ratio in liver. Butyryl-CoA and isobutyryl-CoA interacted with the acetyltransferase P300/CBP-associated factor (PCAF) in liver lysates and inhibited its activity in vitro. This study thus provides evidence that diet can impact tissue acyl-CoA and histone acetylation levels and that acetyl-CoA abundance correlates with acetylation of specific histone lysines in WAT but not in the liver. C1 [Carrer, Alessandro; Parris, Joshua L. D.; Trefely, Sophie; Torres, AnnMarie; Viola, John M.; Wellen, Kathryn E.] Univ Penn, Perelman Sch Med, Abramson Family Canc Res Inst, Dept Canc Biol, Philadelphia, PA 19104 USA. [Blair, Ian A.] Univ Penn, Perelman Sch Med, Dept Syst Pharmacol & Translat Therapeut, Philadelphia, PA 19104 USA. [Trefely, Sophie; Snyder, Nathaniel W.] Drexel Univ, AJ Drexel Autism Inst, Philadelphia, PA 19104 USA. [Henry, Ryan A.; Kuo, Yin-Ming; Andrews, Andrew J.] Fox Chase Canc Ctr, Dept Canc Biol, 7701 Burholme Ave, Philadelphia, PA 19111 USA. [Montgomery, David C.; Meier, Jordan L.] NCI, Biol Chem Lab, Ctr Canc Res, NIH, Ft Detrick, MD 21702 USA. RP Wellen, KE (reprint author), Univ Penn, Perelman Sch Med, Dept Canc Biol, 421 Curie Blvd,BRB 2-2 Rm 653, Philadelphia, PA 19104 USA. EM wellenk@exchange.upenn.edu OI Carrer, Alessandro/0000-0002-9300-6879 FU American Diabetes Association [7-12-JF-59]; Pancreatic Cancer Action Network-American Association; Abramson Cancer Center Basic Science Center; NCI, National Institutes of Health [R01CA174761, ZIABC011488]; National Institutes of Health [R21HD087866, K22ES26235]; Penn-PREP post-baccalaureate program; Penn-PORT IRACDA postdoctoral fellowship [K12 GM081259] FX This work was supported by American Diabetes Association Grant 7-12-JF-59, NCI, National Institutes of Health Grant R01CA174761, by a Pancreatic Cancer Action Network-American Association for Cancer Research career development award (to K. E. W.), by the Abramson Cancer Center Basic Science Center for Excellence in Cancer Metabolism (to K. E. W. and I. A. B.), by National Institutes of Health Grants R21HD087866 and K22ES26235 (to N. W. S.), and by NCI, National Institutes of Health Grant ZIABC011488-04 (to J. L. M.). The authors declare that they have no conflicts of interest with the contents of this article. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health.; Supported by the Penn-PREP post-baccalaureate program.; Supported by Penn-PORT IRACDA postdoctoral fellowship K12 GM081259. NR 43 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD FEB 24 PY 2017 VL 292 IS 8 BP 3312 EP 3322 DI 10.1074/jbc.M116.750620 PG 11 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EM8CM UT WOS:000395538800022 PM 28077572 ER PT J AU Yadav, H Devalaraja, S Chung, ST Rane, SG AF Yadav, Hariom Devalaraja, Samir Chung, Stephanie T. Rane, Sushil G. TI TGF-1/Smad3 Pathway Targets PP2A-AMPK-FoxO1 Signaling to Regulate Hepatic Gluconeogenesis SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article DE AMP-activated kinase (AMPK); diabetes; FOXO; gluconeogenesis; liver; obesity; phosphoprotein phosphatase; SMAD transcription factor; transforming growth factor (TGF-) ID ACTIVATED PROTEIN-KINASE; TGF-BETA; GENE-EXPRESSION; C-ELEGANS; PHOSPHOENOLPYRUVATE CARBOXYKINASE; INSULIN SENSITIVITY; DIETARY RESTRICTION; TRANSGENIC MICE; DB/DB MICE; GROWTH AB Maintenance of glucose homeostasis is essential for normal physiology. Deviation from normal glucose levels, in either direction, increases susceptibility to serious medical complications such as hypoglycemia and diabetes. Maintenance of glucose homeostasis is achieved via functional interactions among various organs: liver, skeletal muscle, adipose tissue, brain, and the endocrine pancreas. The liver is the primary site of endogenous glucose production, especially during states of prolonged fasting. However, enhanced gluconeogenesis is also a signature feature of type 2 diabetes (T2D). Thus, elucidating the signaling pathways that regulate hepatic gluconeogenesis would allow better insight into the process of normal endogenous glucose production as well as how this process is impaired in T2D. Here we demonstrate that the TGF-1/Smad3 signaling pathway promotes hepatic gluconeogenesis, both upon prolonged fasting and during T2D. In contrast, genetic and pharmacological inhibition of TGF-1/Smad3 signals suppressed endogenous glucose production. TGF-1 and Smad3 signals achieved this effect via the targeting of key regulators of hepatic gluconeogenesis, protein phosphatase 2A (PP2A), AMP-activated protein kinase (AMPK), and FoxO1 proteins. Specifically, TGF-1 signaling suppressed the LKB1-AMPK axis, thereby facilitating the nuclear translocation of FoxO1 and activation of key gluconeogenic genes, glucose-6-phosphatase and phosphoenolpyruvate carboxykinase. These findings underscore an important role of TGF-1/Smad3 signaling in hepatic gluconeogenesis, both in normal physiology and in the pathophysiology of metabolic diseases such as diabetes, and are thus of significant medical relevance. C1 [Yadav, Hariom; Devalaraja, Samir; Chung, Stephanie T.; Rane, Sushil G.] NIDDK, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20854 USA. RP Rane, SG (reprint author), NIDDK, Clin Res Ctr, Diabet Endocrinol & Obes Branch, NIH, Bldg 10,9000 Rockville Pike, Bethesda, MD 20814 USA. EM ranes@mail.nih.gov FU National Institutes of Health Intramural Research Program FX This work was supported by a grant from the National Institutes of Health Intramural Research Program. The authors declare that they have no conflicts of interest with the contents of this article. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 43 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD FEB 24 PY 2017 VL 292 IS 8 BP 3420 EP 3432 DI 10.1074/jbc.M116.764910 PG 13 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EM8CM UT WOS:000395538800031 PM 28069811 ER PT J AU Gonzalez, M DeVico, AL Spouge, JL AF Gonzalez, Mileidy DeVico, Anthony L. Spouge, John L. TI Conserved signatures indicate HIV-1 transmission is under strong selection and thus is not a "stochastic" process SO RETROVIROLOGY LA English DT Letter DE Transmitted/founder virus; T/F; Transmission signatures; Selection during HIV transmission; Phenotypic versus genotypic selection ID RHESUS MACAQUES; INFECTION; TRIAL; BREAKTHROUGH; VACCINATION; SEQUENCES; SIVSME660; TYPE-1; GP120; STEP AB Recently, Oberle et al. published a paper in Retrovirology evaluating the question of whether selection plays a role in HIV transmission. The Oberle study found no obvious genotypic or phenotypic differences between donors and recipients of epidemiologically linked pairs from the Swiss cohort. Thus, Oberle et al. characterized HIV-1 B transmission as largely "stochastic", an imprecise and potentially misleading term. Here, we re-analyzed their data and placed them in the context of transmission data for over 20 other human and animal trials. The present study finds that the transmitted/founder (T/F) viruses from the Swiss cohort show the same non-random genetic signatures conserved in 118 HIV-1, 40 SHIV, and 12 SIV T/F viruses previously published by two independent groups. We provide alternative interpretations of the Swiss cohort data and conclude that the sequences of their donor viruses lacked variability at the specific sites where other studies were able to demonstrate genotypic selection. Oberle et al. observed no phenotypic selection in vitro, so the problem of determining the in vivo phenotypic mechanisms that cause genotypic selection in HIV remains open. C1 [Gonzalez, Mileidy; Spouge, John L.] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Stat Computat Biol Grp, Bethesda, MD USA. [DeVico, Anthony L.] Univ Maryland Sch Med, Inst Human Virol, Div Basic Sci & Vaccine Res, Baltimore, MD USA. RP Gonzalez, M (reprint author), NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Stat Computat Biol Grp, Bethesda, MD USA. EM mileidy.gonzalez@nih.gov FU Intramural Research Program of the NIH; National Library of Medicine; The Bill and Melinda Gates Foundation; NIAID; NIH FX MG and JLS were supported by the Intramural Research Program of the NIH, National Library of Medicine. ALD was funded by grants from The Bill and Melinda Gates Foundation and NIAID,NIH. NR 17 TC 2 Z9 2 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1742-4690 J9 RETROVIROLOGY JI Retrovirology PD FEB 24 PY 2017 VL 14 AR 13 DI 10.1186/s12977-016-0326-1 PG 4 WC Virology SC Virology GA EN5QY UT WOS:000396061800001 PM 28231858 ER PT J AU Cherry, JL AF Cherry, Joshua L. TI A practical exact maximum compatibility algorithm for reconstruction of recent evolutionary history SO BMC BIOINFORMATICS LA English DT Article DE Phylogeny; Maximum compatibility; Homoplasy; Bacterial genomes ID CHARACTERS; PARSIMONY AB Background: Maximum compatibility is a method of phylogenetic reconstruction that is seldom applied to molecular sequences. It may be ideal for certain applications, such as reconstructing phylogenies of closely-related bacteria on the basis of whole-genome sequencing. Results: Here I present an algorithm that rapidly computes phylogenies according to a compatibility criterion. Although based on solutions to the maximum clique problem, this algorithm deals properly with ambiguities in the data. The algorithm is applied to bacterial data sets containing up to nearly 2000 genomes with several thousand variable nucleotide sites. Run times are several seconds or less. Computational experiments show that maximum compatibility is less sensitive than maximum parsimony to the inclusion of nucleotide data that, though derived from actual sequence reads, has been identified as likely to be misleading. Conclusions: Maximum compatibility is a useful tool for certain phylogenetic problems, such as inferring the relationships among closely-related bacteria from whole-genome sequence data. The algorithm presented here rapidly solves fairly large problems of this type, and provides robustness against misleading characters than can pollute large-scale sequencing data. C1 [Cherry, Joshua L.] Natl Ctr Biotechnol Informat, Natl Inst Hlth, Natl Lib Med, Bethesda, MD 20894 USA. RP Cherry, JL (reprint author), Natl Ctr Biotechnol Informat, Natl Inst Hlth, Natl Lib Med, Bethesda, MD 20894 USA. EM jcherry@ncbi.nlm.nih.gov FU Intramural Research Program of the NIH,; National Library of Medicine FX This research was supported by the Intramural Research Program of the NIH, National Library of Medicine. NR 18 TC 0 Z9 0 U1 1 U2 1 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2105 J9 BMC BIOINFORMATICS JI BMC Bioinformatics PD FEB 23 PY 2017 VL 18 AR 127 DI 10.1186/s12859-017-1520-4 PG 12 WC Biochemical Research Methods; Biotechnology & Applied Microbiology; Mathematical & Computational Biology SC Biochemistry & Molecular Biology; Biotechnology & Applied Microbiology; Mathematical & Computational Biology GA EP6RM UT WOS:000397506600004 PM 28231758 ER PT J AU DiNapoli, SR Ortiz, AM Wu, F Matsuda, K Twigg, HL Hirsch, VM Knox, K Brenchley, JM AF DiNapoli, Sarah R. Ortiz, Alexandra M. Wu, Fan Matsuda, Kenta Twigg, Homer L., III Hirsch, Vanessa M. Knox, Kenneth Brenchley, Jason M. TI Tissue-resident macrophages can contain replication-competent virus in antiretroviral-naive, SIV-infected Asian macaques SO JCI INSIGHT LA English DT Article ID SIMIAN IMMUNODEFICIENCY VIRUS; CD4(+) T-CELLS; CENTRAL-NERVOUS-SYSTEM; LINKED GLYCOSYLATION SITE; NEUROCOGNITIVE DISORDERS; RHESUS MACAQUES; PERIVASCULAR MACROPHAGES; BRONCHOALVEOLAR LAVAGE; LATENT RESERVOIR; HIV-1 INFECTION AB SIV DNA can be detected in lymphoid tissue-resident macrophages of chronically SIV-infected Asian macaques. These macrophages also contain evidence of recently phagocytosed SIV-infected CD4(+) T cells. Here, we examine whether these macrophages contain replication-competent virus, whether viral DNA can be detected in tissue-resident macrophages from antiretroviral (ARV) therapy-treated animals and humans, and how the viral sequences amplified from macrophages and contemporaneous CD4(+) T cells compare. In ARV-naive animals, we find that lymphoid tissue-resident macrophages contain replication-competent virus if they also contain viral DNA in ARV-naive Asian macaques. The genetic sequence of the virus within these macrophages is similar to those within CD4(+) T cells from the same anatomic sites. In ARV-treated animals, we find that viral DNA can be amplified from lymphoid tissue-resident macrophages of SIV-infected Asian macaques that were treated with ARVs for at least 5 months, but we could not detect replicationcompetent virus from macrophages of animals treated with ARVs. Finally, we could not detect viral DNA in alveolar macrophages from HIV-infected individuals who received ARVs for 3 years and had undetectable viral loads. These data demonstrate that macrophages can contain replicationcompetent virus, but may not represent a significant reservoir for HIV in vivo. C1 [DiNapoli, Sarah R.; Ortiz, Alexandra M.; Brenchley, Jason M.] NIAID, Lab Parasit Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Wu, Fan; Matsuda, Kenta; Hirsch, Vanessa M.] NIAID, Lab Mol Microbiol, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Twigg, Homer L., III] Indiana Univ, Dept Med, Indianapolis, IN USA. [Knox, Kenneth] Univ Arizona, Dept Med, Tucson, AZ USA. RP Brenchley, JM (reprint author), 4 Ctr Dr Room 201,9000 Rockville Pike, Bethesda, MD 20892 USA. EM jbrenchl@mail.nih.gov FU Division of Intramural Research/NIAID/NIH FX We would like to acknowledge Heather Cronise, JoAnne Swerczek, Richard Herbert, and all the veterinary staff at the NIH animal center. We would like to thank CLIC/BBC for advice and helpful discussions. We would like to thank Brandon Keele and Bernard Lafont for assistance in analyzing SIV Env sequencing data. Funding for this study was provided in part by the Division of Intramural Research/NIAID/NIH. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does the mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. NR 71 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA SN 2379-3708 J9 JCI INSIGHT JI JCI Insight PD FEB 23 PY 2017 VL 2 IS 4 AR e91214 DI 10.1172/jci.insight.91214 PG 15 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EN5ET UT WOS:000396029100014 PM 28239657 ER PT J AU Li, QX Bu, W Gabriel, E Aguilar, F Hoshino, Y Miyadera, H Hess, C Hornung, RL Roy, A Cohen, JI AF Li, Qingxue Bu, Wei Gabriel, Erin Aguilar, Fiona Hoshino, Yo Miyadera, Hiroko Hess, Christoph Hornung, Ronald L. Roy, Amitava Cohen, Jeffrey I. TI HLA-DQ beta 1 alleles associated with Epstein-Barr virus (EBV) infectivity and EBV gp42 binding to cells SO JCI INSIGHT LA English DT Article ID AGE-SPECIFIC PREVALENCE; CLASS-II; B-LYMPHOCYTES; SOLUBLE GP42; RECEPTOR; ACQUISITION; CORECEPTOR; ANTIGENS; REVEALS; HLA-DR1 AB Epstein-Barr virus (EBV) infects B cells and similar to 95% of adults are infected. EBV glycoprotein gp42 is essential for entry of virus into B cells. EBV gp42 binds to the beta 1 chain of HLA-DQ, -DR, and -DP on B cells, and uses these molecules for infection. To investigate if certain HLA-DQ alleles are associated with EBV seronegativity, we recruited similar to 3,300 healthy adult blood donors, identified 106 EBV-seronegative individuals, and randomly selected a control group of EBV-seropositive donors from the donor pool. A larger than expected proportion of EBV-seronegative subjects were HLA-DQ beta 1 *04/*05 and *06/*06, and to a lesser extent, *02/*03, compared with the control group, while a larger than expected portion of EBV-seropositive persons were HLA-DQ beta 1 *02/*02. We examined the ability of EBV gp42 to bind to different HLA-DQ molecules using human and mouse cells stably expressing these alleles. EBV gp42 bound less effectively to cells expressing HLA-DQ beta 1 *04/*05, *06/*06, or *03/*03 than to cells expressing HLA-DQ beta 1 *02/*02. These data are consistent with our observations of increased EBV seronegativity with DQ beta 1 *04/*05 or *06/*06 alleles. These findings emphasize the importance of a single genetic locus (HLA-DQ beta 1) to influence infectivity with EBV. C1 [Li, Qingxue; Bu, Wei; Aguilar, Fiona; Hoshino, Yo; Cohen, Jeffrey I.] NIAID, Med Virol Sect, Infect Dis Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Gabriel, Erin] NIAID, Div Clin Res, Biostat Res Branch, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Miyadera, Hiroko] Univ Tokyo, Grad Sch Med, Dept Human Genet, Tokyo, Japan. [Miyadera, Hiroko] Natl Ctr Global Hlth & Med, Res Ctr Hepatitis & Immunol, Chiba, Japan. [Hess, Christoph] Univ Basel Hosp, Dept Biomed & Med Outpatient Div, Immunobiol Lab, Basel, Switzerland. [Hornung, Ronald L.] Leidos Biomed Res Inc, Clin Serv Program, Frederick Natl Lab Canc Res, Frederick, MD USA. [Roy, Amitava] NIH, Bioinformat & Computat Biosci Branch, Rocky Mt Labs, Hamilton, MT USA. RP Cohen, JI (reprint author), NIH, Bldg 50,Room 6134,50 South Dr,MSC8007, Bethesda, MD 20892 USA. EM jcohen@niaid.nih.gov FU intramural research program of the National Institute of Allergy and Infectious Diseases; National Cancer Institute, NIH [HHSN261200800001E] FX We thank Melanie Spriggs for plasmid pDC409-BZLF2 and Sharon Adams for assistance with HLA typing. We thank Toshio Kitamura for providing pMXs plasmids and Henri-Jacques Delecluse and Bill Sugden for the cell line expressing 293-EBV. This work was supported by the intramural research program of the National Institute of Allergy and Infectious Diseases. This project has been funded in whole or in part with federal funds from the National Cancer Institute, NIH, under contract HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. NR 46 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA SN 2379-3708 J9 JCI INSIGHT JI JCI Insight PD FEB 23 PY 2017 VL 2 IS 4 AR e85687 DI 10.1172/jci.insight.85687 PG 17 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EN5ET UT WOS:000396029100001 PM 28239644 ER PT J AU Musich, T Jones, JC Keele, BF Jenkins, LMM Demberg, T Uldrick, TS Yarchoan, R Robert-Guroff, M AF Musich, Thomas Jones, Jennifer C. Keele, Brandon F. Jenkins, Lisa M. Miller Demberg, Thorsten Uldrick, Thomas S. Yarchoan, Robert Robert-Guroff, Marjorie TI Flow virometric sorting and analysis of HIV quasispecies from plasma SO JCI INSIGHT LA English DT Article ID IMMUNODEFICIENCY-VIRUS TYPE-1; SIMIAN IMMUNODEFICIENCY; PARTICLES; CYTOMETRY; INFECTION; PROTEINS; GP120; ANTIBODIES; RESPONSES; KINETICS AB Flow cytometry is utilized extensively for cellular analysis, but technical limitations have prevented its routine application for characterizing virus. The recent introduction of nanoscale fluorescence-activated cytometric cell sorting now allows analysis of individual virions. Here, we demonstrate staining and sorting of infectious HIV. Fluorescent antibodies specific for cellular molecules found on budding virions were used to label CCR5-tropic Bal HIV and CXCR4-tropic NL4.3 HIV Env-expressing pseudovirions made in THP-1 cells (monocyte/macrophage) and H9 cells (T cells), respectively. Using a flow cytometer, we resolved the stained virus beyond isotype staining and demonstrated purity and infectivity of sorted virus populations on cells with the appropriate coreceptors. We subsequently sorted infectious simian/human immunodeficiency virus from archived plasma. Recovery was approximately 0.5%, but virus present in plasma was already bound to viral-specific IgG generated in vivo, likely contributing to the low yield. Importantly, using two broadly neutralizing HIV antibodies, PG9 and VRC01, we also sorted virus from archived human plasma and analyzed the sorted populations genetically and by proteomics, identifying the quasispecies present. The ability to sort infectious HIV from clinically relevant samples provides material for detailed molecular, genetic, and proteomic analyses applicable to future design of vaccine antigens and potential development of personalized treatment regimens. C1 [Musich, Thomas; Demberg, Thorsten; Robert-Guroff, Marjorie] NCI, Immune Biol Retroviral Infect Sect, Bethesda, MD USA. [Jones, Jennifer C.] NCI, Mol Immunogenet & Vaccine Res Sect, Vaccine Branch, Bethesda, MD 20892 USA. [Keele, Brandon F.] Leidos Biomed Res Inc, AIDS & Canc Virus Program, Frederick Natl Lab Canc Res, Frederick, MD USA. [Jenkins, Lisa M. Miller] NCI, Collaborat Prot Technol Resource, Cell Biol Lab, Bethesda, MD 20892 USA. [Uldrick, Thomas S.; Yarchoan, Robert] NCI, Retroviral Dis Sect, HIV & AIDS Malignancy Branch, Bethesda, MD 20892 USA. [Demberg, Thorsten] Immat US Inc, Houston, TX USA. RP Robert-Guroff, M (reprint author), NCI, NIH, Vaccine Branch, 41 Medlars Dr,Bldg 41,Room D804, Bethesda, MD 20892 USA. EM guroffm@mail.nih.gov RI Jones, Jennifer/C-8691-2015 OI Jones, Jennifer/0000-0002-9488-7719 FU Intramural Research Program of the NIH, National Cancer Institute [HHSN261200800001E] FX We would like to thank Karen Aleman for her help with the clinical samples used in this study and Stefanie Musich for her graphical help in preparing this manuscript. The following reagents were obtained through the NIH AIDS Research and Reference Reagent Program, Division of AIDS, National Institute of Allergy and Infectious Diseases: anti-HIV-1 gp120 monoclonal PG9; anti-HIV-1 gp120 monoclonal VRC01 from John Mascola; HIV-1 gp120 mAb 7B2-AAA from Barton F. Haynes and HuaXin Liao; and U373-MAGI-CCR5E and U373-MAGI-CXCR4 CEM cells from Michael Emerman. This work was supported by the Intramural Research Program of the NIH, National Cancer Institute, and contract HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US government. NR 33 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA SN 2379-3708 J9 JCI INSIGHT JI JCI Insight PD FEB 23 PY 2017 VL 2 IS 4 AR e90626 DI 10.1172/jci.insight.90626 PG 13 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EN5ET UT WOS:000396029100011 PM 28239654 ER PT J AU Lack, J Gillard, M Cam, M Paner, GP VanderWeele, DJ AF Lack, Justin Gillard, Marc Cam, Maggie Paner, Gladell P. VanderWeele, David J. TI Circulating tumor cells capture disease evolution in advanced prostate cancer SO JOURNAL OF TRANSLATIONAL MEDICINE LA English DT Article DE Circulating tumor cells; Castrate resistant prostate cancer; Tumor evolution; Neuroendocrine prostate cancer ID SEQUENCING DATA; SAMPLES; EXPRESSION; MUTATIONS; FRAMEWORK; GENOMICS; TISSUE; AR-V7 AB Background: Genetic analysis of advanced cancer is limited by availability of representative tissue. Biopsies of prostate cancer metastasized to bone are invasive with low quantity of tumor tissue. The prostate cancer genome is dynamic, however, with temporal heterogeneity requiring repeated evaluation as the disease evolves. Circulating tumor cells (CTCs) offer an alternative, "liquid biopsy", though single CTC sequencing efforts are laborious with high failure rates. Methods: We performed exome sequencing of matched treatment-naive tumor tissue, castrate resistant tumor tissue, and pooled CTC samples, and compared mutations identified in each. Results: Thirty-seven percent of CTC mutations were private to CTCs, one mutation was shared with treatment-naive disease alone, and 62% of mutations were shared with castrate-resistant disease, either alone or with treatment-naive disease. An acquired nonsense mutation in the Retinoblastoma gene, which is associated with progression to small cell cancer, was identified in castrate resistant and CTC samples, but not treatment-naive disease. This timecourse correlated with the tumor acquiring neuroendocrine features and a change to neuroendocrine-specific therapy. Conclusions: These data support the use of pooled CTCs to facilitate the genetic analysis of late stage prostate cancer. C1 [Lack, Justin; Cam, Maggie] NCI, Ctr Canc Res Collaborat Bioinformat Resource, Ctr Canc Res, Bethesda, MD 20892 USA. [Gillard, Marc] Univ Chicago, Dept Surg, Chicago, IL 60615 USA. [Paner, Gladell P.] Univ Chicago, Dept Pathol, Chicago, IL 60615 USA. [VanderWeele, David J.] NCI, Lab Genitourinary Pathogenesis, Ctr Canc Res, 37 Convent Dr,Rm 1066A, Bethesda, MD 20892 USA. [VanderWeele, David J.] Univ Chicago, Dept Med, Chicago, IL 60615 USA. RP VanderWeele, DJ (reprint author), NCI, Lab Genitourinary Pathogenesis, Ctr Canc Res, 37 Convent Dr,Rm 1066A, Bethesda, MD 20892 USA. EM david.vanderweele@nih.gov FU Office of the Assistant Secretary of Defense for Health Affairs, through the Prostate Cancer Research Program [W81XWH-13-1-0451]; University of Chicago Cancer Center Support Grant [P30 CA014599]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research FX This work was supported by the Office of the Assistant Secretary of Defense for Health Affairs, through the Prostate Cancer Research Program under Award No. W81XWH-13-1-0451 (DVW). Opinions, interpretations, conclusions and recommendations are those of the author and are not necessarily endorsed by the Department of Defense. The U.S. Army Medical Research Acquisition Activity, 820 Chandler Street, Fort Detrick MD 21702-5014 is the awarding and administering acquisition office. This work was also supported by the University of Chicago Cancer Center Support Grant P30 CA014599 (DVW), and the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research (DVW). This work utilized the computational resources of the NIH HPC Biowulf cluster (http://hpc.nih.gov). NR 28 TC 0 Z9 0 U1 3 U2 3 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1479-5876 J9 J TRANSL MED JI J. Transl. Med. PD FEB 23 PY 2017 VL 15 AR 44 DI 10.1186/s12967-017-1138-3 PG 8 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EM8MT UT WOS:000395566200001 PM 28228136 ER PT J AU White, SH McDermott, MM Sufit, RL Kosmac, K Bugg, AW Gonzalez-Freire, M Ferrucci, L Tian, L Zhao, LH Gao, Y Kibbe, MR Criqui, MH Leeuwenburgh, C Peterson, CA AF White, Sarah H. McDermott, Mary M. Sufit, Robert L. Kosmac, Kate Bugg, Alex W. Gonzalez-Freire, Marta Ferrucci, Luigi Tian, Lu Zhao, Lihui Gao, Ying Kibbe, Melina R. Criqui, Michael H. Leeuwenburgh, Christiaan Peterson, Charlotte A. TI Walking performance is positively correlated to calf muscle fiber size in peripheral artery disease subjects, but fibers show aberrant mitophagy: an observational study (vol 14, 284, 2016) SO JOURNAL OF TRANSLATIONAL MEDICINE LA English DT Correction C1 [White, Sarah H.; Kosmac, Kate; Bugg, Alex W.; Peterson, Charlotte A.] Univ Kentucky, Coll Hlth Sci, 900 S Limestone CTW105, Lexington, KY 40536 USA. [White, Sarah H.; Kosmac, Kate; Bugg, Alex W.; Peterson, Charlotte A.] Univ Kentucky, Ctr Muscle Biol, 900 S Limestone CTW105, Lexington, KY 40536 USA. [McDermott, Mary M.] Northwestern Univ, Div Gen Internal Med, Dept Med, Feinberg Sch Med, 750 North Lake Shore Dr,10th Floor, Chicago, IL 60611 USA. [McDermott, Mary M.; Zhao, Lihui; Gao, Ying] Northwestern Univ, Dept Prevent Med, Feinberg Sch Med, Chicago, IL 60611 USA. [Sufit, Robert L.] Northwestern Univ, Dept Neurol, Feinberg Sch Med, Chicago, IL 60611 USA. [Gonzalez-Freire, Marta; Ferrucci, Luigi] NIA, Baltimore, MD 21224 USA. [Tian, Lu] Stanford Univ, Dept Hlth Res & Policy, Stanford, CA 94305 USA. [Kibbe, Melina R.] Northwestern Univ, Dept Surg, Feinberg Sch Med, Chicago, IL 60611 USA. [Kibbe, Melina R.] Jesse Brown Vet Affairs Med Ctr, Chicago, IL USA. [Criqui, Michael H.] Univ Calif San Diego, Dept Family Med & Publ Hlth, La Jolla, CA 92093 USA. [Leeuwenburgh, Christiaan] Univ Florida, Dept Aging & Geriatr Res, Inst Aging, Gainesville, FL USA. RP Peterson, CA (reprint author), Univ Kentucky, Coll Hlth Sci, 900 S Limestone CTW105, Lexington, KY 40536 USA.; Peterson, CA (reprint author), Univ Kentucky, Ctr Muscle Biol, 900 S Limestone CTW105, Lexington, KY 40536 USA.; McDermott, MM (reprint author), Northwestern Univ, Div Gen Internal Med, Dept Med, Feinberg Sch Med, 750 North Lake Shore Dr,10th Floor, Chicago, IL 60611 USA. EM mdm608@northwestern.edu; cpete4@uky.edu NR 1 TC 0 Z9 0 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1479-5876 J9 J TRANSL MED JI J. Transl. Med. PD FEB 23 PY 2017 VL 15 AR 45 DI 10.1186/s12967-017-1127-6 PG 1 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EM8MT UT WOS:000395566200002 PM 28241774 ER PT J AU Lewandowski, LB Watt, MH Schanberg, LE Thielman, NM Scott, C AF Lewandowski, Laura B. Watt, Melissa H. Schanberg, Laura E. Thielman, Nathan M. Scott, Christiaan TI Missed opportunities for timely diagnosis of pediatric lupus in South Africa: a qualitative study SO PEDIATRIC RHEUMATOLOGY LA English DT Article DE Lupus; Pediatric SLE; Africa; Access to care; Chronic illness; Qualitative ID HEALTH-CARE; ERYTHEMATOSUS; MORTALITY; RHEUMATOLOGY; ACCESS; CHALLENGES; NEPHRITIS; CHILDREN; SLE; DISPARITIES AB Background: Systemic Lupus Erythematosus (SLE) is a serious multisystem autoimmune disease, which is more aggressive in children and people of African descent. In South Africa, pediatric SLE (pSLE) patients are at high risk for severe disease. Similar to pSLE worldwide, South African children and adolescents with SLE require subspecialized medical care. The aim of this study is to describe the care-seeking experiences of families and examine factors that contribute to delays in the diagnosis of pSLE. Specifically, we sought to identify factors to inform interventions that support the timely referral and diagnosis of pediatric SLE patients in South Africa. Methods: In-depth, semi-structured interviews were conducted with 22 caregivers of pSLE patients recruited from two government hospitals in Cape Town, South Africa in 2014. Interviews were audio-recorded, transcribed, and analyzed for themes related to barriers to diagnosis. Results: Six themes were identified and classified as either caregiver or health system barriers to diagnosis. Caregiver barriers included lack of knowledge regarding SLE, financial difficulties, and the social stigma of SLE. Health system barriers were lack of trained staff, a complex medical system, and misdiagnosis. Conclusion: Caregivers reported missed opportunities for diagnosing pSLE in their children. Raising public awareness may improve caregiver awareness and reduce stigma of pSLE. Improving family education at diagnosis holds potential to increase patient-physician trust and mitigate fear. Education modules for primary care providers at initial point of contact with the health care system may improve recognition of early pSLE and facilitate expedited referral to a specialist. C1 [Lewandowski, Laura B.] NIH DHHS, Natl Inst Arthritis Musculoskeletal & Skin Dis, 9000 Rockville Pike,Bldg 10,12 N248 Room 28, Bethesda, MD USA. [Lewandowski, Laura B.; Watt, Melissa H.; Thielman, Nathan M.] Duke Univ, Duke Global Hlth Inst, 310 Trent Dr, Durham, NC 27710 USA. [Schanberg, Laura E.] Duke Univ Med Ctr, Pediat Rheumatol, 2301 Erwin Rd, Durham, NC USA. [Scott, Christiaan] Univ Cape Town, Red Cross War Mem Childrens Hosp, Klipfontein Rd,Rondebosch, Cape Town, South Africa. RP Lewandowski, LB (reprint author), NIH DHHS, Natl Inst Arthritis Musculoskeletal & Skin Dis, 9000 Rockville Pike,Bldg 10,12 N248 Room 28, Bethesda, MD USA.; Lewandowski, LB (reprint author), Duke Univ, Duke Global Hlth Inst, 310 Trent Dr, Durham, NC 27710 USA. EM laura.lewandowski@nih.gov FU Lupus Foundation of America Early Career Award; training grant at Duke University [T32 AI0007217]; Duke Global Health Institute Fieldwork; Fogarty International Center (NIH) [R25TW009337] FX LBL was funded by the Lupus Foundation of America Early Career Award, a training grant at Duke University (T32 AI0007217), a Duke Global Health Institute Fieldwork grant, and the Fogarty International Center (NIH R25TW009337). NR 55 TC 0 Z9 0 U1 2 U2 2 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1546-0096 J9 PEDIATR RHEUMATOL JI Pediatr. Rheumatol. PD FEB 23 PY 2017 VL 15 AR 14 DI 10.1186/s12969-017-0144-6 PG 9 WC Pediatrics; Rheumatology SC Pediatrics; Rheumatology GA EP4AF UT WOS:000397322100001 PM 28231857 ER PT J AU Mork, J Aronson, A Demner-Fushman, D AF Mork, James Aronson, Alan Demner-Fushman, Dina TI 12 years on - Is the NLM medical text indexer still useful and relevant? SO JOURNAL OF BIOMEDICAL SEMANTICS LA English DT Article DE Indexing methods; Text categorization; MeSH; MEDLINE; Machine learning; BioASQ AB Background: Facing a growing workload and dwindling resources, the US National Library of Medicine (NLM) created the Indexing Initiative project in 1996. This cross-library team's mission is to explore indexing methodologies for ensuring quality and currency of NLM document collections. The NLM Medical Text Indexer (MTI) is the main product of this project and has been providing automated indexing recommendations since 2002. After all of this time, the questions arise whether MTI is still useful and relevant. Methods: To answer the question about MTI usefulness, we track a wide variety of statistics related to how frequently MEDLINE indexers refer to MTI recommendations, how well MTI performs against human indexing, and how often MTI is used. To answer the question of MTI relevancy compared to other available tools, we have participated in the 2013 and 2014 BioASQ Challenges. The BioASQ Challenges have provided us with an unbiased comparison between the MTI system and other systems performing the same task. Results: Indexers have continually increased their use of MTI recommendations over the years from 15.75% of the articles they index in 2002 to 62.44% in 2014 showing that the indexers find MTI to be increasingly useful. The MTI performance statistics show significant improvement in Precision (+0.2992) and F-1 (+0.1997) with modest gains in Recall (+0.0454) over the years. MTI consistency is comparable to the available indexer consistency studies. MTI performed well in both of the BioASQ Challenges ranking within the top tier teams. Conclusions: Based on our findings, yes, MTI is still relevant and useful, and needs to be improved and expanded. The BioASQ Challenge results have shown that we need to incorporate more machine learning into MTI while still retaining the indexing rules that have earned MTI the indexers' trust over the years. We also need to expand MTI through the use of full text, when and where it is available, to provide coverage of indexing terms that are typically only found in the full text. The role of MTI at NLM is also expanding into new areas, further reinforcing the idea that MTI is increasingly useful and relevant. C1 [Mork, James; Aronson, Alan; Demner-Fushman, Dina] US Natl Lib Med, 8600 Rockville Pike, Bethesda, MD 20894 USA. RP Mork, J (reprint author), US Natl Lib Med, 8600 Rockville Pike, Bethesda, MD 20894 USA. EM jmork@mail.nlm.nih.gov FU Intramural Research Program of the National Institutes of Health; National Library of Medicine FX This work was supported by the Intramural Research Program of the National Institutes of Health and the National Library of Medicine. We would like to thank our colleagues Francois Lang and Willie Rogers for providing direct and indirect support of MTI. We would also like to extend special acknowledgment to Hua Florence Chang who was the original creator of MTI. Florence's foresight has provided us with a robust and tunable program. We would also like to take this opportunity to thank George Paliouras and the entire BioASQ Team for organizing the BioASQ Challenges and providing the opportunity to evaluate MTI. Finally, we would like to thank the NLM indexers and Indexing staff for their continued support and collaboration they have provided over the last twelve years teaching the MTI team how they index and ensuring that MTI succeeds. NR 24 TC 0 Z9 0 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 2041-1480 J9 J BIOMED SEMANT JI J. Biomed. Semant. PD FEB 23 PY 2017 VL 8 AR 8 DI 10.1186/s13326-017-0113-5 PG 10 WC Mathematical & Computational Biology SC Mathematical & Computational Biology GA EP5NJ UT WOS:000397425300001 PM 28231809 ER PT J AU Makarova, KS Zhang, F Koonin, EV AF Makarova, Kira S. Zhang, Feng Koonin, Eugene V. TI SnapShot: Class 1 CRISPR-Cas Systems SO CELL LA English DT Editorial Material ID IMMUNITY C1 [Makarova, Kira S.; Koonin, Eugene V.] NIH, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. [Zhang, Feng] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA. [Zhang, Feng] MIT, McGovern Inst Brain Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA. RP Makarova, KS (reprint author), NIH, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. NR 9 TC 0 Z9 0 U1 7 U2 7 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0092-8674 EI 1097-4172 J9 CELL JI Cell PD FEB 23 PY 2017 VL 168 IS 5 BP 946 EP + PG 2 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EN8YB UT WOS:000396284800023 PM 28235204 ER PT J AU Kidder, BL Hu, GQ Cui, KR Zhao, KJ AF Kidder, Benjamin L. Hu, Gangqing Cui, Kairong Zhao, Keji TI SMYD5 regulates H4K20me3-marked heterochromatin to safeguard ES cell self-renewal and prevent spurious differentiation SO EPIGENETICS & CHROMATIN LA English DT Article DE Embryonic stem cells; SMYD5; H4K20me3; Repetitive DNA; LTR; LINE; Pluripotent; Epigenetics; Chromatin; Heterochromatin; Genomics; RNA-Seq; ChIP-Seq; Self-renewal; Gene expression; Embryoid body; Differentiation; Histone methyltransferase ID EMBRYONIC STEM-CELLS; CORE TRANSCRIPTIONAL NETWORK; GENE-EXPRESSION; MOUSE DEVELOPMENT; METHYLTRANSFERASE ESET; LYSINE-9 METHYLATION; LTR RETROTRANSPOSONS; ENRICHMENT ANALYSIS; GENOME INTEGRITY; STRUCTURAL BASIS AB Background: Epigenetic regulation of chromatin states is thought to control the self-renewal and differentiation of embryonic stem (ES) cells. However, the roles of repressive histone modifications such as trimethylated histone 4 lysine 20 (H4K20me3) in pluripotency and development are largely unknown. Results: Here, we show that the histone lysine methyltransferase SMYD5 mediates H4K20me3 at heterochromatin regions. Depletion of SMYD5 leads to compromised self-renewal, including dysregulated expression of OCT4 targets, and perturbed differentiation. SMYD5-bound regions are enriched with repetitive DNA elements. Knockdown of SMYD5 results in a global decrease of H4K20me3 levels, a redistribution of heterochromatin constituents including H3K9me3/2, G9a, and HP1a, and de-repression of endogenous retroelements. A loss of SMYD5-dependent silencing of heterochromatin nearby genic regions leads to upregulated expression of lineage-specific genes, thus contributing to the decreased self-renewal and perturbed differentiation of SMYD5-depleted ES cells. Conclusions: Altogether, these findings implicate a role for SMYD5 in regulating ES cell self-renewal and H4K20me3-marked heterochromatin. C1 [Kidder, Benjamin L.] Wayne State Univ, Sch Med, Dept Oncol, Detroit, MI 48202 USA. [Kidder, Benjamin L.] Wayne State Univ, Sch Med, Karmanos Canc Inst, Detroit, MI 48202 USA. [Kidder, Benjamin L.; Hu, Gangqing; Cui, Kairong; Zhao, Keji] NHLBI, Syst Biol Ctr, NIH, Bethesda, MD 20892 USA. RP Kidder, BL (reprint author), Wayne State Univ, Sch Med, Dept Oncol, Detroit, MI 48202 USA.; Kidder, BL (reprint author), Wayne State Univ, Sch Med, Karmanos Canc Inst, Detroit, MI 48202 USA.; Kidder, BL; Zhao, KJ (reprint author), NHLBI, Syst Biol Ctr, NIH, Bethesda, MD 20892 USA. EM Benjamin.kidder@wayne.edu; keji.zhao@nih.gov FU Division of Intramural Research of the National Heart, Lung and Blood Institute; Karmanos Cancer Institute, Wayne State University; National Heart, Lung and Blood Institute [1K22HL126842-01A1] FX This work was supported by the Division of Intramural Research of the National Heart, Lung and Blood Institute, Karmanos Cancer Institute, Wayne State University, and a grant from the National Heart, Lung and Blood Institute (1K22HL126842-01A1) awarded to BLK. NR 69 TC 0 Z9 0 U1 1 U2 1 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1756-8935 J9 EPIGENET CHROMATIN JI Epigenetics Chromatin PD FEB 23 PY 2017 VL 10 AR 8 DI 10.1186/s13072-017-0115-7 PG 20 WC Genetics & Heredity SC Genetics & Heredity GA EM7IP UT WOS:000395485000001 PM 28250819 ER PT J AU Kumar, V Moritz, AE Keck, TM Bonifazi, A Ellenberger, MP Sibley, CD Free, RB Shi, L Lane, JR Sibley, DR Newman, AH AF Kumar, Vivek Moritz, Amy E. Keck, Thomas M. Bonifazi, Alessandro Ellenberger, Michael P. Sibley, Christopher D. Free, R. Benjamin Shi, Lei Lane, J. Robert Sibley, David R. Newman, Amy Hauck TI Synthesis and Pharmacological Characterization of Novel trans-Cyclopropylmethyl-Linked Bivalent Ligands That Exhibit Selectivity and Allosteric Pharmacology at the Dopamine D-3 Receptor (D3R) SO JOURNAL OF MEDICINAL CHEMISTRY LA English DT Article ID PROTEIN-COUPLED RECEPTORS; MEDICINAL CHEMISTRY PERSPECTIVE; ANTIPSYCHOTIC-DRUGS; BITOPIC LIGAND; ANTAGONISTS; DISCOVERY; ANALOGS; DESIGN; POTENT; HYPOTHESIS AB The development of bitopic ligands directed toward D-2-like receptors has proven to be of particular interest to improve the selectivity and/or affinity of these ligands and as an approach to modulate and bias their efficacies. The structural similarities between dopamine D-3 receptor (D3R)-selective molecules that display bitopic or allosteric pharmacology and those that are simply competitive antagonists are subtle and intriguing. Herein we synthesized a series of molecules in which the primary and secondary pharmaco-phores were derived from the D3R-selective antagonists SB269,652 (1) and SB277011A (2) whose structural similarity and pharmacological disparity provided the perfect templates for SAR investigation. Incorporating a trans-cyclopropylmethyl linker between pharmacophores and manipulating linker length resulted in the identification of two bivalent noncompetitive D3R-selective antagonists, 18a and 25a, which further delineates SAR associated with allosterism at D3R and provides leads toward novel drug development. C1 [Kumar, Vivek; Keck, Thomas M.; Bonifazi, Alessandro; Ellenberger, Michael P.; Sibley, Christopher D.; Newman, Amy Hauck] NIDA, Med Chem Sect, Mol Targets & Medicat Discovery Branch, Intramural Res Program,NIH, 333 Cassell Dr, Baltimore, MD 21224 USA. [Shi, Lei] NINDS, Computat Chem & Mol Biophys Unit, Mol Targets & Medicat Discovery Branch, NIH, 35 Convent Dr, Baltimore, MD 21224 USA. [Moritz, Amy E.; Free, R. Benjamin; Sibley, David R.] NINDS, Mol Neuropharmacol Sect, NIH, 35 Convent Dr,MSC-3723, Bethesda, MD 20892 USA. [Lane, J. Robert] Monash Univ, Monash Inst Pharmaceut Sci, Drug Discovery Biol, 399 Royal Parade, Parkville, Vic 3052, Australia. [Keck, Thomas M.] Rowan Univ, Coll Sci & Math, Dept Biomed & Translat Sci, Dept Chem & Biochem, 201 Mullica Hill Rd, Glassboro, NJ 08028 USA. RP Newman, AH (reprint author), NIDA, Med Chem Sect, Mol Targets & Medicat Discovery Branch, Intramural Res Program,NIH, 333 Cassell Dr, Baltimore, MD 21224 USA. EM anewman@intra.nida.nih.gov FU Intramural Research Programs of the National Institute on Drug Abuse; National Institute of Neurological Disorders and Stroke FX Support for this research was provided by the Intramural Research Programs of the National Institute on Drug Abuse (V.K, T.M.K, A.B., M.P.E., and A.H.N.) and the National Institute of Neurological Disorders and Stroke (A.E.M., C.D.S., R.B.F., and D.R.S.). J.R.L. is a RD Wright Biomedical Career Development Fellow (NHMRC). NR 54 TC 0 Z9 0 U1 0 U2 0 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0022-2623 EI 1520-4804 J9 J MED CHEM JI J. Med. Chem. PD FEB 23 PY 2017 VL 60 IS 4 BP 1478 EP 1494 DI 10.1021/acs.jmedchem.6b01688 PG 17 WC Chemistry, Medicinal SC Pharmacology & Pharmacy GA EL9FH UT WOS:000394924900017 PM 28186762 ER PT J AU Mordmuller, B Surat, G Lagler, H Chakravarty, S Ishizuka, AS Lalremruata, A Gmeiner, M Campo, JJ Esen, M Ruben, AJ Held, J Calle, CL Mengue, JB Gebru, T Ibanez, J Sulyok, M James, ER Billingsley, PF Kc, N Manoj, A Murshedkar, T Gunasekera, A Appen, AGE Li, T Stafford, RE Li, ML Felgner, PL Seder, RA Richie, TL Sim, BKL Hoffman, SL Kremsner, PG AF Mordmueller, Benjamin Surat, Guezin Lagler, Heimo Chakravarty, Sumana Ishizuka, Andrew S. Lalremruata, Albert Gmeiner, Markus Campo, Joseph J. Esen, Meral Ruben, Adam J. Held, Jana Calle, Carlos Lamsfus Mengue, Juliana B. Gebru, Tamirat Ibanez, Javier Sulyok, Mihaly James, Eric R. Billingsley, Peter F. Kc, Natasha Manoj, Anita Murshedkar, Tooba Gunasekera, Anusha Appen, Abraham G. E. Li, Tao Stafford, Richard E. Li, Minglin Felgner, Phil L. Seder, Robert A. Richie, Thomas L. Sim, B. Kim Lee Hoffman, Stephen L. Kremsner, Peter G. TI Sterile protection against human malaria by chemoattenuated PfSPZ vaccine SO NATURE LA English DT Article ID PLASMODIUM-FALCIPARUM SPOROZOITES; DIRECT VENOUS INOCULATION; T-CELL IMMUNITY; LIVER-STAGE; CHLOROQUINE PROPHYLAXIS; HUMAN VOLUNTEERS; IMMUNIZATION; INFECTION; ANTIGEN; ANTIBODIES AB A highly protective malaria vaccine would greatly facilitate the prevention and elimination of malaria and containment of drug-resistant parasites(1). A high level (more than 90%) of protection against malaria in humans has previously been achieved only by immunization with radiation-attenuated Plasmodium falciparum (Pf) sporozoites (PfSPZ) inoculated by mosquitoes(2-4); by intravenous injection of aseptic, purified, radiation-attenuated, cryopreserved PfSPZ ('PfSPZ Vaccine')(5,6); or by infectious PfSPZ inoculated by mosquitoes to volunteers taking chloroquine(7-10) or mefloquine(11) (chemoprophylaxis with sporozoites). We assessed immunization by direct venous inoculation of aseptic, purified, cryopreserved, non-irradiated PfSPZ ('PfSPZ Challenge'(12,13)) to malaria-naive, healthy adult volunteers taking chloroquine for antimalarial chemoprophylaxis (vaccine approach denoted as PfSPZ-CVac)(14). Three doses of 5.12 x 10(4) PfSPZ of PfSPZ Challenge(12,13) at 28-day intervals were well tolerated and safe, and prevented infection in 9 out of 9 (100%) volunteers who underwent controlled human malaria infection ten weeks after the last dose (group III). Protective efficacy was dependent on dose and regimen. Immunization with 3.2 x 10(3) (group I) or 1.28 x 10(4) (group II) PfSPZ protected 3 out of 9 (33%) or 6 out of 9 (67%) volunteers, respectively. Three doses of 5.12 x 10(4) PfSPZ at five-day intervals protected 5 out of 8 (63%) volunteers. The frequency of Pf-specific polyfunctional CD4 memory T cells was associated with protection. On a 7,455 peptide Pf proteome array, immune sera from at least 5 out of 9 group III vaccinees recognized each of 22 proteins. PfSPZ-CVac is a highly efficacious vaccine candidate; when we are able to optimize the immunization regimen (dose, interval between doses, and drug partner), this vaccine could be used for combination mass drug administration and a mass vaccination program approach to eliminate malaria from geographically defined areas. C1 [Mordmueller, Benjamin; Surat, Guezin; Lagler, Heimo; Lalremruata, Albert] Univ Tubingen, Inst Trop Med, Partner Site, D-72074 Tubingen, Germany. [Gmeiner, Markus; Held, Jana; Gebru, Tamirat; James, Eric R.] German Ctr Infect Res, Partner Site, D-72074 Tubingen, Germany. [Chakravarty, Sumana; Billingsley, Peter F.; Murshedkar, Tooba; Hoffman, Stephen L.] Med Univ Vienna, Div Infect Dis & Trop Med, Dept Med, A-1090 Vienna, Austria. [Seder, Robert A.] Sanaria Inc, Rockville, MD 20850 USA. [Gmeiner, Markus; Ibanez, Javier; James, Eric R.; Kc, Natasha] NIAID, NIH, Vaccine Res Ctr VRC, Bethesda, MD 20892 USA. [Billingsley, Peter F.; Kc, Natasha] Antigen Discovery Inc, Irvine, CA 92618 USA. [Campo, Joseph J.; Mengue, Juliana B.; James, Eric R.; Manoj, Anita] Protein Potential LLC, Rockville, MD 20850 USA. [Ishizuka, Andrew S.; Calle, Carlos Lamsfus; Appen, Abraham G. E.; Li, Tao] Univ Calif Irvine, Dept Med, Irvine, CA 92697 USA. RP Hoffman, SL (reprint author), Med Univ Vienna, Div Infect Dis & Trop Med, Dept Med, A-1090 Vienna, Austria. EM slhoffman@sanaria.com OI Sulyok, Mihaly/0000-0002-6960-5126; Lagler, Heimo/0000-0003-3240-7385 FU German Federal Ministry of Education and Research (BMBF) through the German Center for Infection Research (DZIF); National Institute of Allergy and Infectious Diseases of the National Institutes of Health under SBIR [5R44AI058375, 5R44AI055229]; intramural research program of the VRC, NIAID, NIH; NIAID SBIR [5R44AI066791]; Bill & Melinda Gates Foundation FX The authors thank the vaccine trial participants for their contribution and commitment to vaccine research. We thank F. Adomat, S. Adukpo, M. Aldejohann, S. Bolte, S. Borrmann, A. Bouyoukou Hounkpatin, S. Bruckner, E. Bruske, J. Fernandes, P. Granados Bayon, J. Hass, S. Jeyaraj, J. Keim, A. Knoblich, R. Kollner, A. Kreidenweiss, D. N. Ndungu, R. Ritter, J. A. Selvaraj, Z. Sulyok, S. Theil, N. Theurer, and I. Westermann for support in conducting the trial, and P. Darrah and M. Roederer for assistance with the interpretation of the T-cell data. We thank the Sanaria and Protein Potential teams for manufacture and shipping of investigational products, PfSPZ Challenge and diluents, regulatory, quality, and clinical site activities, and legal and administrative support, including especially D. Cheney (nee Padilla), Y. Abebe, E. Saverino, Y. Wu, E. Fomumbod, A. Awe, M. King, M. Orozco, A. Patil, Y. Wen, K. Nelson, J. Overby, S. Matheny, V. Pitch, B. Jiang, L. Gao, R. Xu, T. T. Wai, S. Monsheimer, P. De La Vega, M. Laskowski, H. Huang, M. Marquette, J. Jackson, F. Beams, R. Douglas, R. C. Thompson, D. Dolberg and A. Hoffman. We thank J. Inglese and P. Dranchak of the National Center for Advancing Translational Sciences (NCATS), NIH for support with the automated immunofluorescence assay and inhibition of sporozoite invasion assays. We appreciate the expert reviews of the Safety Monitoring Committee (W. Chen, P. Coyne and P. Zanger). The clinical trial was funded by the German Federal Ministry of Education and Research (BMBF) through the German Center for Infection Research (DZIF). Manufacture of investigational product by Sanaria was supported in part by the National Institute of Allergy and Infectious Diseases of the National Institutes of Health under SBIR award numbers 5R44AI058375 and 5R44AI055229. T cell studies were supported by the intramural research program of the VRC, NIAID, NIH. Proteome microarray studies were supported by NIAID SBIR grant 5R44AI066791 and funding from the Bill & Melinda Gates Foundation. NR 45 TC 0 Z9 0 U1 5 U2 5 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD FEB 23 PY 2017 VL 542 IS 7642 BP 445 EP + DI 10.1038/nature21060 PG 17 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1RG UT WOS:000395094100029 PM 28199305 ER PT J AU Thomou, T Mori, MA Dreyfuss, JM Konishi, M Sakaguchi, M Wolfrum, C Rao, TN Winnay, JN Garcia-Martin, R Grinspoon, SK Gorden, P Kahn, CR AF Thomou, Thomas Mori, Marcelo A. Dreyfuss, Jonathan M. Konishi, Masahiro Sakaguchi, Masaji Wolfrum, Christian Rao, Tata Nageswara Winnay, Jonathon N. Garcia-Martin, Ruben Grinspoon, Steven K. Gorden, Phillip Kahn, C. Ronald TI Adipose-derived circulating miRNAs regulate gene expression in other tissues SO NATURE LA English DT Article ID EXTRACELLULAR VESICLES; MICRORNA BIOGENESIS; MEMBRANE-VESICLES; HUMAN OBESITY; EXOSOMES; CELLS; RNA; DIFFERENTIATION; MICROVESICLES; METABOLISM AB Adipose tissue is a major site of energy storage and has a role in the regulation of metabolism through the release of adipokines. Here we show that mice with an adipose-tissue-specific knockout of the microRNA (miRNA)-processing enzyme Dicer (ADicerKO), as well as humans with lipodystrophy, exhibit a substantial decrease in levels of circulating exosomal miRNAs. Transplantation of both white and brown adipose tissue-brown especially-into ADicerKO mice restores the level of numerous circulating miRNAs that are associated with an improvement in glucose tolerance and a reduction in hepatic Fgf21 mRNA and circulating FGF21. This gene regulation can be mimicked by the administration of normal, but not ADicerKO, serum exosomes. Expression of a human-specific miRNA in the brown adipose tissue of one mouse in vivo can also regulate its 3'UTR reporter in the liver of another mouse through serum exosomal transfer. Thus, adipose tissue constitutes an important source of circulating exosomal miRNAs, which can regulate gene expression in distant tissues and thereby serve as a previously undescribed form of adipokine. C1 [Thomou, Thomas; Konishi, Masahiro; Sakaguchi, Masaji; Rao, Tata Nageswara; Winnay, Jonathon N.; Garcia-Martin, Ruben; Kahn, C. Ronald] Joslin Diabet Ctr, Sect Integrat Physiol & Metab, Boston, MA 02215 USA. [Thomou, Thomas; Dreyfuss, Jonathan M.; Konishi, Masahiro; Sakaguchi, Masaji; Rao, Tata Nageswara; Winnay, Jonathon N.; Garcia-Martin, Ruben; Grinspoon, Steven K.; Kahn, C. Ronald] Harvard Med Sch, Boston, MA 02115 USA. [Mori, Marcelo A.] Univ Estadual Campinas, Dept Biochem & Tissue Biol, Campinas, SP, Brazil. [Dreyfuss, Jonathan M.] Joslin Diabet Ctr, Bioinformat Core, Boston, MA 02215 USA. [Dreyfuss, Jonathan M.] Boston Univ, Dept Biomed Engn, Boston, MA 02215 USA. [Wolfrum, Christian] ETHZ, Dept Hlth Sci & Metab, Zurich, Switzerland. [Rao, Tata Nageswara] Univ Basel Hosp, Dept Biomed, Expt Hematol, Basel, Switzerland. [Grinspoon, Steven K.] Massachusetts Gen Hosp, MGH Program Nutr Metab, Boston, MA 02114 USA. [Gorden, Phillip] NIDDK, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA. RP Kahn, CR (reprint author), Joslin Diabet Ctr, Sect Integrat Physiol & Metab, Boston, MA 02215 USA.; Kahn, CR (reprint author), Harvard Med Sch, Boston, MA 02115 USA. EM c.ronald.kahn@joslin.harvard.edu OI Dreyfuss, Jonathan/0000-0001-7242-3991 FU NIH [R01 DK082659, R01 DK033201, P30 DK040561]; Mary K. Iacocca Professorship; Joslin Diabetes Center DRC [P30DK036836]; FAPESP [2010/52557-0, 2015/01316-7] FX We thank M. Torriani and K. V. Fitch for assistance with HIV lipodystrophy samples; M. Lynnes, S. Kasif, and A. M. Cypess for help with reagents and discussions; and the Joslin Histology, Media and Physiology Core Facilities for help with experiments. This study was supported by grants from the NIH R01 DK082659 and R01 DK033201, the Mary K. Iacocca Professorship, and the Joslin Diabetes Center DRC Grant P30DK036836. S.K.G. was funded by grants from the NIH (P30 DK040561). M.A.M. was funded by grants from FAPESP (2010/52557-0 and 2015/01316-7). NR 50 TC 1 Z9 1 U1 14 U2 14 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD FEB 23 PY 2017 VL 542 IS 7642 BP 450 EP + DI 10.1038/nature21365 PG 16 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1RG UT WOS:000395094100030 PM 28199304 ER PT J AU Compagno, M Wang, Q Pighi, C Cheong, TC Meng, FL Poggio, T Yeap, LS Karaca, E Blasco, RB Langellotto, F Ambrogio, C Voena, C Wiestner, A Kasar, SN Brown, JR Sun, J Wu, CJ Gostissa, M Alt, FW Chiarle, R AF Compagno, Mara Wang, Qi Pighi, Chiara Cheong, Taek-Chin Meng, Fei-Long Poggio, Teresa Yeap, Leng-Siew Karaca, Elif Blasco, Rafael B. Langellotto, Fernanda Ambrogio, Chiara Voena, Claudia Wiestner, Adrian Kasar, Siddha N. Brown, Jennifer R. . Sun, Jing Wu, Catherine J. Gostissa, Monica Alt, Frederick W. Chiarle, Roberto TI Phosphatidylinositol 3-kinase delta blockade increases genomic instability in B cells SO NATURE LA English DT Article ID CHRONIC LYMPHOCYTIC-LEUKEMIA; INDUCED CYTIDINE DEAMINASE; CLASS-SWITCH RECOMBINATION; SEQUENCING REVEALS; CHROMOSOMAL TRANSLOCATIONS; SUPER-ENHANCERS; TARGETING BTK; AID; DNA; HYPERMUTATION AB Activation-induced cytidine deaminase (AID) is a B-cell-specific enzyme that targets immunoglobulin genes to initiate class switch recombination and somatic hypermutation(1). In addition, through off-target activity, AID has a much broader effect on genomic instability by initiating oncogenic chromosomal translocations and mutations involved in the development and progression of lymphoma(2). AID expression is tightly regulated in B cells and its overexpression leads to enhanced genomic instability and lymphoma formation3. The phosphatidylinositol 3-kinase delta (PI3K delta) pathway regulates AID by suppressing its expression in B cells4. Drugs for leukaemia or lymphoma therapy such as idelalisib, duvelisib and ibrutinib block PI3K delta activity directly or indirectly(5-8), potentially affecting AID expression and, consequently, genomic stability in B cells. Here we show that treatment of primary mouse B cells with idelalisib or duvelisib, and to a lesser extent ibrutinib, enhanced the expression of AID and increased somatic hypermutation and chromosomal translocation frequency to the Igh locus and to several AID off-target sites. Both of these effects were completely abrogated in AID-deficient B cells. PI3K delta inhibitors or ibrutinib increased the formation of AID-dependent tumours in pristane-treated mice. Consistently, PI3K delta inhibitors enhanced AID expression and translocation frequency to IGH and AID off-target sites in human chronic lymphocytic leukaemia and mantle cell lymphoma cell lines, and patients treated with idelalisib, but not ibrutinib, showed increased somatic hypermutation in AID off-targets. In summary, we show that PI3K delta or Bruton's tyrosine kinase inhibitors increase genomic instability in normal and neoplastic B cells by an AID-dependent mechanism. This effect should be carefully considered, as such inhibitors can be administered to patients for years. C1 [Compagno, Mara; Wang, Qi; Pighi, Chiara; Cheong, Taek-Chin; Karaca, Elif; Blasco, Rafael B.; Langellotto, Fernanda; Voena, Claudia; Chiarle, Roberto] Childrens Hosp Boston, Dept Pathol, Boston, MA 02115 USA. [Compagno, Mara; Wang, Qi; Pighi, Chiara; Cheong, Taek-Chin; Karaca, Elif; Blasco, Rafael B.; Langellotto, Fernanda; Voena, Claudia; Chiarle, Roberto] Harvard Med Sch, Boston, MA 02115 USA. [Meng, Fei-Long; Yeap, Leng-Siew; Gostissa, Monica; Alt, Frederick W.] Boston Childrens Hosp, Howard Hughes Med Inst, Program Cellular & Mol Med, Boston, MA 02115 USA. [Meng, Fei-Long; Yeap, Leng-Siew; Gostissa, Monica; Alt, Frederick W.] Harvard Med Sch, Dept Genet, Boston, MA 02115 USA. [Poggio, Teresa; Voena, Claudia; Chiarle, Roberto] Univ Torino, Dept Mol Biotechnol & Hlth Sci, I-10126 Turin, Italy. [Kasar, Siddha N.; Brown, Jennifer R. .; Sun, Jing] Harvard Med Sch, Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA. [Wiestner, Adrian] Natl Heart Lung & Blood Inst, Hematol Branch, Bethesda, MD USA. [Meng, Fei-Long] Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Biochem & Cell Biol, Shanghai 200031, Peoples R China. [Yeap, Leng-Siew] Shanghai Jiao Tong Univ, Sch Med, Shanghai Inst Immunol, Shanghai 200025, Peoples R China. [Langellotto, Fernanda; Gostissa, Monica] Agenus Inc, 3 Forbes Rd, Lexington, MA 02421 USA. RP Chiarle, R (reprint author), Childrens Hosp Boston, Dept Pathol, Boston, MA 02115 USA.; Chiarle, R (reprint author), Harvard Med Sch, Boston, MA 02115 USA.; Chiarle, R (reprint author), Univ Torino, Dept Mol Biotechnol & Hlth Sci, I-10126 Turin, Italy. EM roberto.chiarle@childrens.harvard.edu FU NIH [R01 CA196703-01, 1U10CA180861-01, R01AI077595]; Associazione Italiana per la Ricerca sul Cancro [IG-12023, MFAG 10708]; Worldwide Cancer Research grant [12-0216]; Compagnia di San Paolo-Comitato Gigi Ghirotti; American Cancer Society [RSG-13-002-01-CCE]; National Research Foundation of Korea(NRF); PhRMA Foundation; NHLBI, NIH FX We thank K. Okkenhaug and F. Garcon for providing wild-type and mutated PI3K delta constructs, F. Zhang for providing CRISPR/Cas9 plasmids. We thank M. Fleming and M. M. Awad for critically reading the manuscript. This work was supported by NIH grants R01 CA196703-01 to R.C.; 1U10CA180861-01 to C.J.W., R01AI077595 to F.W.A; Associazione Italiana per la Ricerca sul Cancro grant IG-12023 to R.C. and MFAG 10708 to M.C.; Worldwide Cancer Research grant 12-0216 to R.C.; Compagnia di San Paolo-Comitato Gigi Ghirotti to M.C.; American Cancer Society Grant RSG-13-002-01-CCE to J.R.B.; T.C.C. is supported by a National Research Foundation of Korea(NRF) fellowship; L.S.Y. was a Cancer Research Institute postdoctoral fellow; F.M. was a Lymphoma Research Foundation postdoctoral fellow; J.S. is a recipient of a PhRMA Foundation Research Fellowship; C.J.W. is Scholar of the Leukemia and Lymphoma Society; F.W.A. is an investigator of the Howard Hughes Medical Institute. A.W. is supported by the intramural program of NHLBI, NIH. NR 43 TC 1 Z9 1 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD FEB 23 PY 2017 VL 542 IS 7642 BP 489 EP + DI 10.1038/nature21406 PG 22 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1RG UT WOS:000395094100039 PM 28199309 ER PT J AU Schlusser, KE Pilcher, C Kallas, EG Santos, BR Deeks, SG Facente, S Keating, SM Busch, MP Murphy, G Welte, A Quinn, T Eshleman, SH Laeyendecker, O AF Schlusser, Katherine E. Pilcher, Christopher Kallas, Esper G. Santos, Breno R. Deeks, Steven G. Facente, Shelley Keating, Sheila M. Busch, Michael P. Murphy, Gary Welte, Alex Quinn, Thomas Eshleman, Susan H. Laeyendecker, Oliver TI Comparison of cross-sectional HIV incidence assay results from dried blood spots and plasma SO PLOS ONE LA English DT Article ID BED-ENZYME-IMMUNOASSAY; TYPE-1 SEROCONVERSION; CHALLENGES AB Background Assays have been developed for cross-sectional HIV incidence estimation using plasma samples. Large scale surveillance programs are planned using dried blood spot (DBS) specimens for incidence assessment. However, limited information exists on the performance of HIV cross-sectional incidence assays using DBS. Methods The assays evaluated were: Maxim HIV-1 Limiting Antigen Avidity EIA (LAg-Avidity), Sedia HIV-1 BED-Capture EIA (BED-CEIA), and CDC modified BioRad HIV-1/2 Plus O Aviditybased Assay (CDC-BioRad Avidity) using pre-determined cutoff values. 100 matched HIV-1 positive plasma and DBS samples, with known duration of infection, from the Consortium for the Evaluation and Performance of HIV Incidence Assays repository were tested. All assays were run in duplicate. To examine the degree of variability within and between results for each sample type, both categorical and continuous results were analyzed. Associations were assessed with Bland Altman, R-2 values and Cohen's kappa coefficient (kappa). Results Intra-assay variability using the same sample type was similar for all assays (R-2 0.96 to 1.00). The R-2 values comparing DBS and plasma results for LAg-Avidity, BED-CEIA, and CDC-BioRad Avidity were 0.96, 0.94, and 0.84, respectively. The concordance and. values between DBS and plasma for all three assays were > 87% and > 0.64, respectively. The Bland-Altman analysis showed significant differences between plasma and DBS samples. For all three assays, a higher number of samples were classified as recent infections using DBS samples. Conclusions DBS and plasma sample results were highly correlated. However, when compared to plasma, each assay performed somewhat differently in DBS at the lower and higher ends of the dynamic range. DBS samples were more likely to be classified as recently infected by all three assays, which may lead to overestimation of incidence in surveys using performance criteria derived for plasma samples. C1 [Schlusser, Katherine E.; Quinn, Thomas; Laeyendecker, Oliver] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA. [Pilcher, Christopher; Deeks, Steven G.; Facente, Shelley; Keating, Sheila M.; Busch, Michael P.] Univ Calif San Francisco, Sch Med, Dept Med, San Francisco, CA USA. [Kallas, Esper G.] Univ Sao Paulo, Sao Paulo, Brazil. [Kallas, Esper G.] Grp Hosp Conceicao, Porto Alegre, RS, Brazil. [Keating, Sheila M.; Busch, Michael P.] Blood Syst Res Inst, San Francisco, CA USA. [Murphy, Gary] Publ Hlth England, London, England. [Welte, Alex] Univ Stellenbosch, South African DST NRF Ctr Excellence Epidemiol Mo, Stellenbosch, South Africa. [Quinn, Thomas; Laeyendecker, Oliver] NIAID, Immunoregulat Lab, Div Intramural Res, NIH, Baltimore, MD USA. [Eshleman, Susan H.] Johns Hopkins Univ Sch Med, Dept Pathol, Baltimore, MD USA. RP Laeyendecker, O (reprint author), Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA.; Laeyendecker, O (reprint author), NIAID, Immunoregulat Lab, Div Intramural Res, NIH, Baltimore, MD USA. EM olaeyen1@jhmi.edu FU Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), NIH; HIV Prevention Trials Network (HPTN) - NIAID, National Institutes of Child Health and Human Development (NICH/HD), National Institute on Drug Abuse, National Institute of Mental Health; Office of AIDS Research; Office of NIH, DHHS [UM1 AI1068613, R01 AI095068, R34MH096606]; Bill and Melinda Gates Foundation [OPP1017716]; NIH [P01 AI071713, R01 HD074511, P30 AI027763, R24 AI067039]; Brazilian Ministry of Health, Brazilian Program [914/BRA/3014-UNESCO]; Sao Paulo City Health Department [2004-0.168.922-7] FX This study was supported in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases (NIAID), NIH. Other support was provided by the HIV Prevention Trials Network (HPTN) sponsored by the NIAID, National Institutes of Child Health and Human Development (NICH/HD), National Institute on Drug Abuse, National Institute of Mental Health, and Office of AIDS Research, of the NIH, DHHS, UM1 AI1068613 (Eshleman), R01 AI095068 (Eshleman) and R34MH096606 (Pilcher). Funding for this project was also provided by the Bill and Melinda Gates Foundation (grant OPP1017716). The AM PLIAR and Options Cohorts received funding from the NIH (grants P01 AI071713 and R01 HD074511). The SCOPE study also received funding from the NIH (grants P30 AI027763 and R24 AI067039). The Sao Paulo Cohort acknowledges funding by the Brazilian Ministry of Health, Brazilian Program for STD and AIDS (grant 914/BRA/3014-UNESCO) and the Sao Paulo City Health Department (grant 2004-0.168.922-7). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 19 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 23 PY 2017 VL 12 IS 2 AR e0172283 DI 10.1371/journal.pone.0172283 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL5SX UT WOS:000394682400033 ER PT J AU Jorissen, W Wouters, E Bogie, JF Vanmierlo, T Noben, JP Sviridov, D Hellings, N Somers, V Valcke, R Vanwijmeersch, B Stinissen, P Mulder, MT Remaley, AT Hendriks, JJA AF Jorissen, Winde Wouters, Elien Bogie, Jeroen F. Vanmierlo, Tim Noben, Jean-Paul Sviridov, Denis Hellings, Niels Somers, Veerle Valcke, Roland Vanwijmeersch, Bart Stinissen, Piet Mulder, Monique T. Remaley, Alan T. Hendriks, Jerome J. A. TI Relapsing-remitting multiple sclerosis patients display an altered lipoprotein profile with dysfunctional HDL SO SCIENTIFIC REPORTS LA English DT Article ID HIGH-DENSITY-LIPOPROTEIN; APOLIPOPROTEIN-A-I; TUMOR-NECROSIS-FACTOR; ACUTE-PHASE RESPONSE; REVERSE CHOLESTEROL TRANSPORT; CORONARY-ARTERY-DISEASE; CENTRAL-NERVOUS-SYSTEM; INSULIN-RESISTANCE; FACTOR-ALPHA; CARDIOVASCULAR-DISEASE AB Lipoproteins modulate innate and adaptive immune responses. In the chronic inflammatory disease multiple sclerosis (MS), reports on lipoprotein level alterations are inconsistent and it is unclear whether lipoprotein function is affected. Using nuclear magnetic resonance (NMR) spectroscopy, we analysed the lipoprotein profile of relapsing-remitting (RR) MS patients, progressive MS patients and healthy controls (HC). We observed smaller LDL in RRMS patients compared to healthy controls and to progressive MS patients. Furthermore, low-BMI (BMI <= 23 kg/m(2)) RRMS patients show increased levels of small HDL (sHDL), accompanied by larger, triglyceride (TG)-rich VLDL, and a higher lipoprotein insulin resistance (LP-IR) index. These alterations coincide with a reduced serum capacity to accept cholesterol via ATP-binding cassette (ABC) transporter G1, an impaired ability of HDL3 to suppress inflammatory activity of human monocytes, and modifications of HDL3's main protein component ApoA-I. In summary, lipoprotein levels and function are altered in RRMS patients, especially in low-BMI patients, which may contribute to disease progression in these patients. C1 [Jorissen, Winde; Wouters, Elien; Bogie, Jeroen F.; Vanmierlo, Tim; Noben, Jean-Paul; Hellings, Niels; Somers, Veerle; Stinissen, Piet; Hendriks, Jerome J. A.] Hasselt Univ, Dept Immunol & Biochem, Biomed, Diepenbeek, Belgium. [Sviridov, Denis; Remaley, Alan T.] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Valcke, Roland] Hasselt Univ, Fac Sci Mol & Phys Plant Physiol, Diepenbeek, Belgium. [Vanwijmeersch, Bart] Revalidat & MS Ctr, Overpelt, Belgium. [Mulder, Monique T.] Erasmus MC, Dept Vasc & Met Dis, Rotterdam, Netherlands. RP Hendriks, JJA (reprint author), Hasselt Univ, Dept Immunol & Biochem, Biomed, Diepenbeek, Belgium. EM jerome.hendriks@uhasselt.be RI Vanmierlo, Tim/C-7773-2013; OI Vanmierlo, Tim/0000-0003-2912-0578; Noben, Jean-Paul/0000-0003-3368-5686 FU European Molecular Biology Organization (EMBO); Agentschap Innovatie door Wetenschap en Technologie (IWT); Fonds Wetenschappelijk Onderzoek (FWO); NHLBI; Hercules Foundation FX The authors thank Dr. Maureen Sampson, Dr. Francesca Solmi and Dr. Michele Ampe for the statistical support, Erik Royackers for the excellent technical assistance, and Dr. Anatol Kontush and Virginie Bito for critically reading the manuscript. This work was supported by grants from the European Molecular Biology Organization (EMBO), the Agentschap Innovatie door Wetenschap en Technologie (IWT), and the Fonds Wetenschappelijk Onderzoek (FWO). Research by ATR was supported by intramural DIR research funds from NHLBI. Funding of the LTQ-Orbitrap mass spectrometer was obtained through Hercules Foundation. NR 108 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 23 PY 2017 VL 7 AR 43410 DI 10.1038/srep43410 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL6TG UT WOS:000394754500001 PM 28230201 ER PT J AU Amar, MJA Kaler, M Courville, AB Shamburek, R Sampson, M Wolska, A Remaley, AT AF Amar, Marcelo J. A. Kaler, Maryann Courville, Amber B. Shamburek, Robert Sampson, Maureen Wolska, Anna Remaley, Alan T. TI Randomized double blind clinical trial on the effect of oral alpha-cyclodextrin on serum lipids (vol 15, pg 115, 2016) SO LIPIDS IN HEALTH AND DISEASE LA English DT Correction C1 [Amar, Marcelo J. A.; Kaler, Maryann; Courville, Amber B.; Shamburek, Robert; Sampson, Maureen; Wolska, Anna; Remaley, Alan T.] NHLBI, Lipoprot Metab Sect, NIH, Bldg 10,Room 8 N-228,10 Ctr Dr,MSC 1666, Bethesda, MD 20892 USA. RP Amar, MJA (reprint author), NHLBI, Lipoprot Metab Sect, NIH, Bldg 10,Room 8 N-228,10 Ctr Dr,MSC 1666, Bethesda, MD 20892 USA. EM ma90x@nih.gov NR 1 TC 0 Z9 0 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1476-511X J9 LIPIDS HEALTH DIS JI Lipids Health Dis. PD FEB 22 PY 2017 VL 16 DI 10.1186/s12944-017-0435-4 PG 1 WC Biochemistry & Molecular Biology; Nutrition & Dietetics SC Biochemistry & Molecular Biology; Nutrition & Dietetics GA EO6EU UT WOS:000396785500002 PM 28228137 ER PT J AU Wang, RH Bai, J Deng, J Fang, CJ Chen, XY AF Wang, Rui-Hui Bai, Jie Deng, Jun Fang, Chen-Jie Chen, Xiaoyuan TI TAT-Modified Gold Nanoparticle Carrier with Enhanced Anticancer Activity and Size Effect on Overcoming Multidrug Resistance SO ACS APPLIED MATERIALS & INTERFACES LA English DT Article DE AuNPs; TAT; anthracene derivatives; antiproliferation; size effect on MDR ID P-GLYCOPROTEIN; CELLULAR UPTAKE; CANCER-CELLS; DRUG-DELIVERY; BINDING; COMPLEXES; TRANSACTIVATOR; TRANSCRIPTION; ENDOCYTOSIS; DOXORUBICIN AB Highly efficient targeted delivery is crucial for successful anticancer chemotherapy. In this study, we developed a drug delivery system ANS-TAT-AuNP that loads anticancer molecule 2-(9-anthracenylmethylene)-hydrazinecarbothioamide (ANS) via conjugation with cell penetrating peptide TAT modified AuNPs. The in vitro study showed that the IC50 value of ANS-TAT-AuNPs(3.8 nm), reduced by 11.28- (24 h) and 12.64-fold (48 h) after incubation with liver hepatocellular carcinoma HepG(2) cells compared to that of free ANS, suggesting that TAT modified AuNPs could enhance the antiproliferative activity of ANS. Also, ANS-TAT-AuNPs showed a size effect on overcoming multidrug resistance (MDR). The potential of ANS-TAT-AuNPs in overcoming MDR was assessed with MCF-7/ADR drug-resistant cell line, the drug resistance index (DRI) of which was extremely high (>190). The DRI of ANS-TAT-AuNPs(22.1 nm) decreased dramatically to 1.48 (24 h) and 2.20 (48 h), while that of ANS-TAT-AuNPs3.8. decreased to 7.64 (24 h) and 7.77 (48 h), indicating that ANS-TAT-AuNPs(22.2 nm) could treat extremely resistant MCF-7/ADR cancer cells as drug sensitive ones. The data suggest that the larger AuNPs had more profound effect on overcoming MDR, which could effectively prevent drug efflux due to their size being much larger than that of the p-glycoprotein channel (9-25 angstrom). C1 [Wang, Rui-Hui; Bai, Jie; Fang, Chen-Jie] Capital Med Univ, Sch Pharmaceut Sci, Beijing 100069, Peoples R China. [Deng, Jun] Capital Med Univ, Core Facil Ctr, Beijing 100069, Peoples R China. [Chen, Xiaoyuan] Natl Inst Biomed Imaging & Bioengn, Natl Inst Hlth, Lab Mol Imaging & Nanomed, Bethesda, MD 20892 USA. RP Fang, CJ (reprint author), Capital Med Univ, Sch Pharmaceut Sci, Beijing 100069, Peoples R China.; Chen, XY (reprint author), Natl Inst Biomed Imaging & Bioengn, Natl Inst Hlth, Lab Mol Imaging & Nanomed, Bethesda, MD 20892 USA. EM cjfang@ccmu.edu.cn; shawn.chen@nih.gov FU NSFC [21571133, 21171120]; Natural Science Foundation of Beijing Municipality [7132020]; Intramural Research Program, National Institute of Biomedical Imaging and Bioengineering (NIBIB), National Institutes of Health (NIH) FX The authors thank the NSFC (21571133, 21171120), Natural Science Foundation of Beijing Municipality (7132020), and the Intramural Research Program, National Institute of Biomedical Imaging and Bioengineering (NIBIB), National Institutes of Health (NIH) for financial support. The authors also thank Dr. Yilin Lu for his nice support in the Raman spectroscopy. NR 53 TC 0 Z9 0 U1 3 U2 3 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1944-8244 J9 ACS APPL MATER INTER JI ACS Appl. Mater. Interfaces PD FEB 22 PY 2017 VL 9 IS 7 BP 5828 EP 5837 DI 10.1021/acsami.6b15200 PG 10 WC Nanoscience & Nanotechnology; Materials Science, Multidisciplinary SC Science & Technology - Other Topics; Materials Science GA EL7VQ UT WOS:000394829800019 PM 28124900 ER PT J AU Rudebeck, PH Ripple, JA Mitz, AR Averbeck, BB Murray, EA AF Rudebeck, Peter H. Ripple, Joshua A. Mitz, Andrew R. Averbeck, Bruno B. Murray, Elisabeth A. TI Amygdala Contributions to Stimulus-Reward Encoding in the Macaque Medial and Orbital Frontal Cortex during Learning SO JOURNAL OF NEUROSCIENCE LA English DT Article DE amygdala; learning; macaque; prefrontal; reward ID PRIMATE ORBITOFRONTAL CORTEX; ANTERIOR CINGULATE CORTEX; PREFRONTAL CORTEX; BASOLATERAL AMYGDALA; RHESUS-MONKEYS; NEURONAL-ACTIVITY; DECISION-MAKING; LESIONS; MECHANISMS; CHOICES AB Orbitofrontal cortex (OFC), medial frontal cortex (MFC), and amygdala mediate stimulus-reward learning, but the mechanisms through which they interact are unclear. Here, we investigated how neurons in macaque OFC and MFC signaled rewards and the stimuli that predicted them during learning with and without amygdala input. Macaques performed a task that required them to evaluate two stimuli and then choose one to receive the reward associated with that option. Four main findings emerged. First, amygdala lesions slowed the acquisition and use of stimulus-reward associations. Further analyses indicated that this impairment was due, at least in part, to ineffective use of negative feedback to guide subsequent decisions. Second, the activity of neurons in OFC and MFC rapidly evolved to encode the amount of reward associated with each stimulus. Third, amygdalectomy reduced encoding of stimulus-reward associations during the evaluation of different stimuli. Reward encoding of anticipated and received reward after choices were made was not altered. Fourth, amygdala lesions led to an increase in the proportion of neurons in MFC, but not OFC, that encoded the instrumental response that monkeys made on each trial. These correlated changes in behavior and neural activity after amygdala lesions strongly suggest that the amygdala contributes to the ability to learn stimulus-reward associations rapidly by shaping encoding within OFC and MFC. C1 [Rudebeck, Peter H.] Friedman Brain Inst, Icahn Sch Med, New York, NY 10029 USA. [Rudebeck, Peter H.; Ripple, Joshua A.; Mitz, Andrew R.; Averbeck, Bruno B.; Murray, Elisabeth A.] Natl Inst Hlth, Sect Neurobiol Learning & Memory, Neuropsychol Lab, Bethesda, MD 20892 USA. RP Rudebeck, PH (reprint author), Friedman Brain Inst, Icahn Sch Med, New York, NY 10029 USA.; Rudebeck, PH (reprint author), Natl Inst Hlth, Sect Neurobiol Learning & Memory, Neuropsychol Lab, Bethesda, MD 20892 USA. EM peter.rudebeck@mssm.edu FU National Institute of Mental Health [ZI-AMH002886, R01MH110822]; NARSAD FX This work was supported by the National Institute of Mental Health (Intramural Research Program Grant ZI-AMH002886 to E.A.M.; BRAINS Award R01MH110822 to P.H.R.) and NARSAD (Young Investigator Award to P.H.R.). Wethank Kevin Blomstrom, Kevin Fomalont and Ravi Chacko for assistance with data collection; James Fellows, Ping Yu Chen, and David Yu for help with surgery and histology; and Steven Wise for discussion and comments. NR 48 TC 0 Z9 0 U1 0 U2 0 PU SOC NEUROSCIENCE PI WASHINGTON PA 11 DUPONT CIRCLE, NW, STE 500, WASHINGTON, DC 20036 USA SN 0270-6474 J9 J NEUROSCI JI J. Neurosci. PD FEB 22 PY 2017 VL 37 IS 8 BP 2186 EP 2202 DI 10.1523/JNEUROSCI.0933-16.2017 PG 17 WC Neurosciences SC Neurosciences & Neurology GA EP2BV UT WOS:000397188900020 PM 28123082 ER PT J AU Aflaki, E Westbroek, W Sidransky, E AF Aflaki, Elma Westbroek, Wendy Sidransky, Ellen TI The Complicated Relationship between Gaucher Disease and Parkinsonism: Insights from a Rare Disease SO NEURON LA English DT Review ID ALPHA-SYNUCLEIN CLEARANCE; CHAPERONE-MEDIATED AUTOPHAGY; GLUCOCEREBROSIDASE MUTATIONS; DOPAMINE NEURONS; ASHKENAZI JEWS; PHARMACOLOGICAL CHAPERONE; LYSOSOMAL BIOGENESIS; SUBSTRATE REDUCTION; BETA-GLUCOSIDASE; GBA MUTATIONS AB The discovery of a link between mutations in GBA1, encoding the lysosomal enzyme glucocerebrosidase, and the synucleinopathies directly resulted from the clinical recognition of patients with Gaucher disease with parkinsonism. Mutations in GBA1 are now the most common known genetic risk factor for several Lewy body disorders, and an inverse relationship exists between levels of glucocerebrosidase and oligomeric alpha-synuclein. While the underlying mechanisms are still debated, this complicated association is shedding light on the role of lysosomes in neurodegenerative disorders, demonstrating how insights from a rare disorder can direct research into the pathogenesis and therapy of seemingly unrelated common diseases. C1 [Aflaki, Elma; Westbroek, Wendy; Sidransky, Ellen] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA. RP Sidransky, E (reprint author), NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA. EM sidranse@mail.nih.gov FU Intramural NIH HHS [Z99 HG999999] NR 97 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0896-6273 EI 1097-4199 J9 NEURON JI Neuron PD FEB 22 PY 2017 VL 93 IS 4 BP 737 EP 746 DI 10.1016/j.neuron.2017.01.018 PG 10 WC Neurosciences SC Neurosciences & Neurology GA EO1AE UT WOS:000396429100007 PM 28231462 ER PT J AU Cho, YE Im, EJ Moon, PG Mezey, E Song, BJ Baek, MC AF Cho, Young-Eun Im, Eun-Ju Moon, Pyong-Gon Mezey, Esteban Song, Byoung-Joon Baek, Moon-Chang TI Increased liver-specific proteins in circulating extracellular vesicles as potential biomarkers for drug- and alcohol-induced liver injury SO PLOS ONE LA English DT Article ID ACETAMINOPHEN HEPATOTOXICITY; NONALCOHOLIC STEATOHEPATITIS; MESSENGER-RNAS; TOXICITY; EXOSOMES; IDENTIFICATION; DISEASES; MOUSE; HEPATOCYTES; MICRORNAS AB Drug- and alcohol-induced liver injury are a leading cause of liver failure and transplantation. Emerging evidence suggests that extracellular vesicles (EVs) are a source of biomarkers because they contain unique proteins reflecting the identity and tissue-specific origin of the EV proteins. This study aimed to determine whether potentially hepatotoxic agents, such as acetaminophen (APAP) and binge alcohol, can increase the amounts of circulating EVs and evaluate liver-specific EV proteins as potential biomarkers for liver injury. The circulating EVs, isolated from plasma of APAP-exposed, ethanol-fed mice, or alcoholic hepatitis patients versus normal control counterparts, were characterized by proteomics and biochemical methods. Liver specific EV proteins were analyzed by immunoblots and ELISA. The amounts of total and liver-specific proteins in circulating EVs from APAP-treated mice significantly increased in a dose-and time-dependent manner. Proteomic analysis of EVs from APAP-exposed mice revealed that the amounts of liver-specific and/or hepatotoxic proteins were increased compared to those of controls. Additionally, the increased protein amounts in EVs following APAP exposure returned to basal levels when mice were treated with N-acetylcysteine or glutathione. Similar results of increased amounts and liver-specific proteins in circulating EVs were also observed in mice exposed to hepatotoxic doses of thioacetamide or D-galactosamine but not by non-hepatotoxic penicillin or myotoxic bupivacaine. Additionally, binge ethanol exposure significantly elevated liver-specific proteins in circulating EVs from mice and alcoholics with alcoholic hepatitis, compared to control counterparts. These results indicate that circulating EVs in drug-and alcohol-mediated hepatic injury contain liver-specific proteins that could serve as specific biomarkers for hepatotoxicity. C1 [Cho, Young-Eun; Im, Eun-Ju; Moon, Pyong-Gon; Baek, Moon-Chang] Kyungpook Natl Univ, Cell & Matrix Res Inst, Sch Med, Dept Mol Med, Daegu, South Korea. [Cho, Young-Eun; Song, Byoung-Joon] NIAAA, Sect Mol Pharmacol & Toxicol, Lab Membrane Biochem & Biophys, NIH, Bethesda, MD USA. [Mezey, Esteban] Johns Hopkins Univ, Sch Med, Dept Med, Baltimore, MD 21205 USA. RP Baek, MC (reprint author), Kyungpook Natl Univ, Cell & Matrix Res Inst, Sch Med, Dept Mol Med, Daegu, South Korea. EM mcbaek@knu.ac.kr FU National Research Foundation of Korea (NRF) - Korea government [2014R1A5A2009242]; Intramural Fund of the National Institute on Alcoholism and Alcohol Abuse, NIH, U.S.A; Korean Research Institute of Bioscience and Biotechnology FX This work was supported by a National Research Foundation of Korea (NRF) grant funded by the Korea government (2014R1A5A2009242) and by the Intramural Fund of the National Institute on Alcoholism and Alcohol Abuse, NIH, U.S.A. In addition, this research was partially supported by the Korean Biomedical Scientist Fellowship Program Award (to YEC) by the Korean Research Institute of Bioscience and Biotechnology. NR 55 TC 0 Z9 0 U1 1 U2 1 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 22 PY 2017 VL 12 IS 2 AR e0172463 DI 10.1371/journal.pone.0172463 PG 23 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL5SK UT WOS:000394680900044 PM 28225807 ER PT J AU Nasser, HM Calu, DJ Schoenbaum, G Sharpe, MJ AF Nasser, Helen M. Calu, Donna J. Schoenbaum, Geoffrey Sharpe, Melissa J. TI The Dopamine Prediction Error: Contributions to Associative Models of Reward Learning SO FRONTIERS IN PSYCHOLOGY LA English DT Review DE prediction error; attention; associative learning; dopamine; model-based learning ID VENTRAL TEGMENTAL AREA; RAT PREFRONTAL CORTEX; VISUAL-ATTENTION; NUCLEUS-ACCUMBENS; BASOLATERAL AMYGDALA; AVERSIVE STIMULI; NEURONS ENCODE; CONDITIONED INHIBITION; ORBITOFRONTAL CORTEX; COMPLEX ENVIRONMENTS AB Phasic activity of midbrain dopamine neurons is currently thought to encapsulate the prediction-error signal described in Sutton and Barto's (1981) model-free reinforcement learning algorithm. This phasic signal is thought to contain information about the quantitative value of reward, which transfers to the reward-predictive cue after learning. This is argued to endow the reward-predictive cue with the value inherent in the reward, motivating behavior toward cues signaling the presence of reward. Yet theoretical and empirical research has implicated prediction-error signaling in learning that extends far beyond a transfer of quantitative value to a reward-predictive cue. Here, we review the research which demonstrates the complexity of how dopaminergic prediction errors facilitate learning. After briefly discussing the literature demonstrating that phasic dopaminergic signals can act in the manner described by Sutton and Barto (1981), we consider how these signals may also influence attentional processing across multiple attentional systems in distinct brain circuits. Then, we discuss how prediction errors encode and promote the development of context-specific associations between cues and rewards. Finally, we consider recent evidence that shows dopaminergic activity contains information about causal relationships between cues and rewards that reflect information garnered from rich associative models of the world that can be adapted in the absence of direct experience. In discussing this research we hope to support the expansion of how dopaminergic prediction errors are thought to contribute to the learning process beyond the traditional concept of transferring quantitative value. C1 [Nasser, Helen M.; Calu, Donna J.; Schoenbaum, Geoffrey] Univ Maryland, Sch Med, Dept Anat & Neurobiol, Baltimore, MD 21201 USA. [Schoenbaum, Geoffrey; Sharpe, Melissa J.] NIDA, Cellular Neurobiol Res Branch, Intramural Res Program, Baltimore, MD 21224 USA. [Schoenbaum, Geoffrey] Johns Hopkins Univ, Solomon H Snyder Dept Neurosci, Baltimore, MD USA. [Sharpe, Melissa J.] Princeton Univ, Princeton Neurosci Inst, Princeton, NJ 08544 USA. RP Nasser, HM (reprint author), Univ Maryland, Sch Med, Dept Anat & Neurobiol, Baltimore, MD 21201 USA.; Sharpe, MJ (reprint author), NIDA, Cellular Neurobiol Res Branch, Intramural Res Program, Baltimore, MD 21224 USA.; Sharpe, MJ (reprint author), Princeton Univ, Princeton Neurosci Inst, Princeton, NJ 08544 USA. EM helennasser2200@gmail.com; melissa.sharpe@nih.gov OI Calu, Donna/0000-0003-2377-9494 FU Intramural Research Program of the National Institute on Drug Abuse FX The work was supported by the Intramural Research Program of the National Institute on Drug Abuse. NR 140 TC 0 Z9 0 U1 7 U2 7 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1664-1078 J9 FRONT PSYCHOL JI Front. Psychol. PD FEB 22 PY 2017 VL 8 AR 244 DI 10.3389/fpsyg.2017.00244 PG 17 WC Psychology, Multidisciplinary SC Psychology GA EL3WP UT WOS:000394550300001 PM 28275359 ER PT J AU Qiu, ZJ Zhang, ZH Roschke, A Varga, T Aplan, PD AF Qiu, Zhijun Zhang, Zhenhua Roschke, Anna Varga, Tamas Aplan, Peter D. TI Generation of Gross Chromosomal Rearrangements by a Single Engineered DNA Double Strand Break SO SCIENTIFIC REPORTS LA English DT Article ID CHRONIC MYELOID-LEUKEMIA; END-JOINING PATHWAY; HOMOLOGOUS RECOMBINATION; GENOMIC INSTABILITY; SEQUENCING REVEALS; TOPOISOMERASE-II; HISTONE H2AX; STEM-CELLS; REPAIR; TRANSLOCATIONS AB Gross chromosomal rearrangements (GCRs), including translocations, inversions amplifications, and deletions, can be causal events leading to malignant transformation. GCRs are thought to be triggered by DNA double strand breaks (DSBs), which in turn can be spontaneous or induced by external agents (eg. cytotoxic chemotherapy, ionizing radiation). It has been shown that induction of DNA DSBs at two defined loci can produce stable balanced chromosomal translocations, however, a single engineered DNA DSB could not. Herein, we report that although a single engineered DNA DSB in H2AX "knockdown" cells did not generate GCRs, repair of a single engineered DNA DSB in fibroblasts that had ablated H2ax did produce clonal, stable GCRs, including balanced translocations and megabase-pair inversions. Upon correction of the H2ax deficiency, cells no longer generated GCRs following a single engineered DNA DSB. These findings demonstrate that clonal, stable GCRs can be produced by a single engineered DNA DSB in H2ax knockout cells, and that the production of these GCRs is ameliorated by H2ax expression. C1 [Qiu, Zhijun; Zhang, Zhenhua; Roschke, Anna; Varga, Tamas; Aplan, Peter D.] NCI, Genet Branch, NIH, Bethesda, MD 20892 USA. RP Aplan, PD (reprint author), NCI, Genet Branch, NIH, Bethesda, MD 20892 USA. EM aplanp@mail.nih.gov FU National Cancer Institute, NIH FX This work was supported by the intramural program of the National Cancer Institute, NIH. The authors would like to thank Andre Nussenzweig and Hua Tang Chen for the kind gift of H2ax knockout fibroblasts. NR 48 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 22 PY 2017 VL 7 AR 43156 DI 10.1038/srep43156 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL3QP UT WOS:000394534200001 PM 28225067 ER PT J AU Hu, LS Hu, SQ Guo, LY Shen, CC Yang, MH Rasooly, A AF Hu, Lanshuang Hu, Shengqiang Guo, Linyan Shen, Congcong Yang, Minghui Rasooly, Avraham TI DNA Generated Electric Current Biosensor SO ANALYTICAL CHEMISTRY LA English DT Article ID BREAST-CANCER PATIENTS; ELECTROCHEMICAL DETECTION; ENZYME-IMMUNOASSAY; GOLD NANOPARTICLES; SERUM; HER2; AMPLIFICATION; HER-2/NEU; CELLS AB In addition to its primary function as a genetic material, deoxyribonucleic acid (DNA) is also a potential biologic energy source for molecular electronics. For the first time, we demonstrate that DNA can generate a redox electric current. As an example of this new functionality, DNA generated redox current was used for electrochemical detection of human epidermal growth factor receptor 2 (HER2), a clinically important breast cancer biomarker. To induce redox current, the phosphate of the single stranded DNA aptamer backbone was reacted with molybdate to form redox molybdophosphate precipitate and generate an electrochemical current of similar to 16.8 mu A/ mu M cm(2). This detection of HER2 was performed using a sandwich detection assay. A HER2 specific peptide was immobilized onto a gold electrode surface for capturing HER2 in buffer and serum. The HER2 specific aptamer was used as both ligand to bind the captured HER2 and to generate a redox current signal. When tested for HER2 detection, the electrochemical current generated by the aptasensor was proportional to HER2 concentration in the range of 0.01 to 5 ng/mL, with a current generated in the range of similar to 6.37 to 31.8 mu A/cm(2) in both buffer and serum. This detection level is within the clinically relevant range of HER2 concentrations. This method of electrochemical signal amplification greatly simplifies the signal transduction of aptasensors, broadening their use for HER2 analysis. This novel approach of using the same aptamer as biosensor ligand and as transducer can be universally extended to other aptasensors for a wide array of biodetection applications. Moreover, electric currents generated by DNA or other nucleic acids can be used in molecular electronics or implanted devices for both power generation and measurement of output. C1 [Hu, Lanshuang; Hu, Shengqiang; Guo, Linyan; Shen, Congcong; Yang, Minghui] Cent S Univ, Coll Chem & Chem Engn, Changsha 410083, Hunan, Peoples R China. [Rasooly, Avraham] NCI, NIH, Rockville, MD 20850 USA. RP Yang, MH (reprint author), Cent S Univ, Coll Chem & Chem Engn, Changsha 410083, Hunan, Peoples R China.; Rasooly, A (reprint author), NCI, NIH, Rockville, MD 20850 USA. EM yangminghui@csu.edu.cn; rasoolya@mail.nih.gov FU National Key Basic Research Program of China [2014CB744502]; National Natural Science Foundation of China [21575165]; Natural Science Foundation of Hunan Province [2015JJ1019] FX The authors thank the support of this work by the National Key Basic Research Program of China (Grant 2014CB744502), the National Natural Science Foundation of China (Grant No. 21575165), and the Natural Science Foundation of Hunan Province (Grant No. 2015JJ1019). NR 44 TC 0 Z9 0 U1 10 U2 10 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0003-2700 EI 1520-6882 J9 ANAL CHEM JI Anal. Chem. PD FEB 21 PY 2017 VL 89 IS 4 BP 2547 EP 2552 DI 10.1021/acs.analchem.6b04756 PG 6 WC Chemistry, Analytical SC Chemistry GA EL6IG UT WOS:000394724700052 PM 28219246 ER PT J AU Libich, DS Tugarinov, V Ghirlando, R Clore, GM AF Libich, David S. Tugarinov, Vitali Ghirlando, Rodolfo Clore, G. Marius TI Confinement and Stabilization of Fyn SH3 Folding Intermediate Mimetics within the Cavity of the Chaperonin GroEL Demonstrated by Relaxation-Based NMR SO BIOCHEMISTRY LA English DT Article ID MOLECULAR CHAPERONES; CONFORMATIONAL STATES; PROTEINS; EXCHANGE; SECB AB The interaction of two folding intermediate mimetics of the model protein substrate Fyn SH3 with the chaperonin GroEL, a supramolecular foldase/unfoldase machine, has been investigated by N-15 relaxation-based nuclear magnetic resonance spectroscopy (lifetime line broadening, dark state exchange saturation transfer, and relaxation dispersion). The two mimetics comprise C-terminal truncations of wild-type and triple-mutant (A39V/N53P/V55L) Fyn SH3 in which the C-terminal strand of the SH3 domain is unfolded, while preserving the remaining domain structure. Quantitative analysis of the data reveals that a mobile state of the SH3 domain confined and tethered within the cavity of GroEL, possibly through interactions with the disordered, methionine-rich C-terminal tail(s), can be detected, and that the native state of the folding intermediate mimetics is stabilized by both confinement within and binding to apo GroEL. These data provide a basis for understanding the passive activity of GroEL as a foldase/unfoldase: the unfolded state, in the absence of hydrophobic GroEL-binding consensus sequences, is destabilized within the cavity because of its larger radius of gyration compared to that of the folding intermediate, while the folding intermediate is stabilized relative to the native state because of exposure of a hydrophobic patch that favors GroEL binding. C1 [Libich, David S.; Tugarinov, Vitali; Clore, G. Marius] NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. [Ghirlando, Rodolfo] NIDDK, Mol Biol Lab, NIH, Bethesda, MD 20892 USA. RP Clore, GM (reprint author), NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. EM mariusc@mail.nih.gov FU Intramural Program of NIDDK, NIH; AIDS Targeted Antiviral program of the Office of the Director of the NIH FX This work was supported by the Intramural Program of NIDDK, NIH, and by the AIDS Targeted Antiviral program of the Office of the Director of the NIH (to G.M.C.). NR 23 TC 0 Z9 0 U1 0 U2 0 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0006-2960 J9 BIOCHEMISTRY-US JI Biochemistry PD FEB 21 PY 2017 VL 56 IS 7 BP 903 EP 906 DI 10.1021/acs.biochem.6b01237 PG 4 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EL6IL UT WOS:000394725300001 PM 28156097 ER PT J AU Donahue, RN Lepone, LM Grenga, I Jochems, C Fantini, M Madan, RA Heery, CR Gulley, JL Schlom, J AF Donahue, Renee N. Lepone, Lauren M. Grenga, Italia Jochems, Caroline Fantini, Massimo Madan, Ravi A. Heery, Christopher R. Gulley, James L. Schlom, Jeffrey TI Analyses of the peripheral immunome following multiple administrations of avelumab, a human IgG1 anti-PD-L1 monoclonal antibody SO JOURNAL FOR IMMUNOTHERAPY OF CANCER LA English DT Article DE Avelumab; Anti-PD-L1; Checkpoint inhibitor; Immunotherapy; Peripheral immunome; Immune subsets; ADCC; Antibody-dependent cell-mediated cytotoxicity ID DEPENDENT CELLULAR CYTOTOXICITY; NATURAL-KILLER-CELLS; T-CELLS; TUMOR-CELLS; OPEN-LABEL; CANCER; RECEPTORS; THERAPY; TRIAL; NK AB Background: Multiple anti-PD-L1/PD-1 checkpoint monoclonal antibodies (MAb) have shown clear evidence of clinical benefit. All except one have been designed or engineered to omit the possibility to mediate antibody-dependent cell-mediated cytotoxicity (ADCC) as a second potential mode of anti-tumor activity; the reason for this is the concern of lysis of PD-L1 positive immune cells. Avelumab is a fully human IgG1 MAb which has been shown in prior in vitro studies to mediate ADCC versus a range of human tumor cells, and clinical studies have demonstrated anti-tumor activity versus a range of human cancers. This study was designed to investigate the effect on immune cell subsets in the peripheral blood of cancer patients prior to and following multiple administrations of avelumab. Methods: One hundred twenty-three distinct immune cell subsets in the peripheral blood of cancer patients (n = 28) in a phase I trial were analyzed by flow cytometry prior to and following one, three, and nine cycles of avelumab. Changes in soluble (s) CD27 and sCD40L in plasma were also evaluated. In vitro studies were also performed to determine if avelumab would mediate ADCC of PBMC. Results: No statistically significant changes in any of the 123 immune cell subsets analyzed were observed at any dose level, or number of doses, of avelumab. Increases in the ratio of sCD27: sCD40L were observed, suggesting potential immune activation. Controlled in vitro studies also showed lysis of tumor cells by avelumab versus no lysis of PBMC from five donors. Conclusions: These studies demonstrate the lack of any significant effect on multiple immune cell subsets, even those expressing PD-L1, following multiple cycles of avelumab. These results complement prior studies showing anti-tumor effects of avelumab and comparable levels of adverse events with avelumab versus other anti-PD-1/PD-L1 MAbs. These studies provide the rationale to further exploit the potential ADCC mechanismof action of avelumab as well as other human IgG1 checkpoint inhibitors. C1 [Donahue, Renee N.; Lepone, Lauren M.; Grenga, Italia; Jochems, Caroline; Fantini, Massimo; Heery, Christopher R.; Schlom, Jeffrey] NCI, Lab Tumor Immunol & Biol, Ctr Canc Res, NIH, 10 Ctr Dr,Room 8B09, Bethesda, MD 20892 USA. [Madan, Ravi A.; Gulley, James L.] NCI, Genitourinary Malignancies Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Schlom, J (reprint author), NCI, Lab Tumor Immunol & Biol, Ctr Canc Res, NIH, 10 Ctr Dr,Room 8B09, Bethesda, MD 20892 USA. EM js141c@nih.gov FU Intramural Research Program of the Center for Cancer Research, National Cancer Institute (NCI), National Institutes of Health; EMD Serono; NCI FX This research was supported by the Intramural Research Program of the Center for Cancer Research, National Cancer Institute (NCI), National Institutes of Health, and via a Cooperative Research and Development Agreement (CRADA) between EMD Serono and the NCI. NR 35 TC 0 Z9 0 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 2051-1426 J9 J IMMUNOTHER CANCER JI J. Immunother. Cancer PD FEB 21 PY 2017 VL 5 AR 20 DI 10.1186/s40425-017-0220-y PG 16 WC Oncology SC Oncology GA EO8CH UT WOS:000396916000001 PM 28239472 ER PT J AU Ito, D Schureck, MA Desai, SA AF Ito, Daisuke Schureck, Marc A. Desai, Sanjay A. TI An essential dual-function complex mediates erythrocyte invasion and channel-mediated nutrient uptake in malaria parasites SO ELIFE LA English DT Article ID SURFACE ANION CHANNEL; FALCIPARUM-INFECTED ERYTHROCYTES; CLAG MULTIGENE FAMILY; RED-BLOOD-CELLS; PLASMODIUM-FALCIPARUM; RHOPTRY PROTEIN; PTEX COMPONENT; RESISTANCE; REVEALS; TRAFFICKING AB Malaria parasites evade immune detection by growth and replication within erythrocytes. After erythrocyte invasion, the intracellular pathogen must increase host cell uptake of nutrients from plasma. Here, we report that the parasite-encoded RhopH complex contributes to both invasion and channel-mediated nutrient uptake. As rhoph2 and rhoph3 gene knockouts were not viable in the human P. falciparum pathogen, we used conditional knockdowns to determine that the encoded proteins are essential and to identify their stage-specific functions. We exclude presumed roles for RhopH2 and CLAG3 in erythrocyte invasion but implicate a RhopH3 contribution either through ligand-receptor interactions or subsequent parasite internalization. These proteins then traffic via an export translocon to the host membrane, where they form a nutrient channel. Knockdown of either RhopH2 or RhopH3 disrupts the entire complex, interfering with organellar targeting and subsequent trafficking. Therapies targeting this complex should attack the pathogen at two critical points in its cycle. C1 [Ito, Daisuke; Schureck, Marc A.; Desai, Sanjay A.] NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD 20892 USA. RP Desai, SA (reprint author), NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD 20892 USA. EM sdesai@niaid.nih.gov FU Intramural Research Program of the National Institutes of Health; National Institute of Allergy and Infectious Diseases FX We thank Josh Beck, Daniel Goldberg, Thomas Wellems, Jose-Juan Lopez-Rubio, Philip Shaw, and Takafumi Tsuboi for providing plasmids, antibodies, and/or parasite clones; Josh Beck and Daniel Goldberg for helpful discussions and sharing their unpublished results on PTEX activity; Nicole Potchen and Meera Garriga for critical reading of the manuscript; and Ryan Kissinger and Anita Mora for artwork. DSM1 (MRA-1161) was obtained through MR4 as part of the BEI Resources Repository, NIAID, NIH. SAD is a named inventor on US and international patent applications and on an issued US patent on the drug targets presented in this manuscript ('INHIBITORS OF THE PLASMODIAL SURFACE ANION CHANNEL AS ANTIMALARIALS', International Patent Application Publication WO/2010/011537; Chinese Patent Application 200980137435; European Patent Application EP2313100A1; Indian Patent Application 470/CHENP/2011; US Patent Application Publication US2014/0088082A1; and issued US Patent U58,618,090). The other authors have no conflicts of interest. This research was supported by the Intramural Research Program of the National Institutes of Health, National Institute of Allergy and Infectious Diseases. NR 54 TC 2 Z9 2 U1 1 U2 1 PU ELIFE SCIENCES PUBLICATIONS LTD PI CAMBRIDGE PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND SN 2050-084X J9 ELIFE JI eLife PD FEB 21 PY 2017 VL 6 DI 10.7554/eLife.23485 PG 24 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EP8KC UT WOS:000397623300001 ER PT J AU Dumitrescu, L Ritchie, MD Denny, JC El Rouby, NM McDonough, CW Bradford, Y Ramirez, AH Bielinski, SJ Basford, MA Chai, HS Peissig, P Carrell, D Pathak, J Rasmussen, LV Wang, XM Pacheco, JA Kho, AN Hayes, MG Matsumoto, M Smith, ME Li, RL Cooper-DeHoff, RM Kullo, IJ Chute, CG Chisholm, RL Jarvik, GP Larson, EB Carey, D McCarty, CA Williams, MS Roden, DM Bottinger, E Johnson, JA de Andrade, M Crawford, DC AF Dumitrescu, Logan Ritchie, Marylyn D. Denny, Joshua C. El Rouby, Nihal M. McDonough, Caitrin W. Bradford, Yuki Ramirez, Andrea H. Bielinski, Suzette J. Basford, Melissa A. Chai, High Seng Peissig, Peggy Carrell, David Pathak, Jyotishman Rasmussen, Luke V. Wang, Xiaoming Pacheco, Jennifer A. Kho, Abel N. Hayes, M. Geoffrey Matsumoto, Martha Smith, Maureen E. Li, Rongling Cooper-DeHoff, Rhonda M. Kullo, Iftikhar J. Chute, Christopher G. Chisholm, Rex L. Jarvik, Gail P. Larson, Eric B. Carey, David McCarty, Catherine A. Williams, Marc S. Roden, Dan M. Bottinger, Erwin Johnson, Julie A. de Andrade, Mariza Crawford, Dana C. TI Genome-wide study of resistant hypertension identified from electronic health records SO PLOS ONE LA English DT Article ID GENETIC EPIDEMIOLOGY RESEARCH; AMERICAN-HEART-ASSOCIATION; CORONARY-ARTERY-DISEASE; BLOOD-PRESSURE RESPONSE; AGING GERA COHORT; MEDICAL-RECORDS; EMERGE NETWORK; CONTROL RATES; QUALITY-CONTROL; PULSE PRESSURE AB Resistant hypertension is defined as high blood pressure that remains above treatment goals in spite of the concurrent use of three antihypertensive agents from different classes. Despite the important health consequences of resistant hypertension, few studies of resistant hypertension have been conducted. To perform a genome-wide association study for resistant hypertension, we defined and identified cases of resistant hypertension and hypertensives with treated, controlled hypertension among > 47,500 adults residing in the US linked to electronic health records (EHRs) and genotyped as part of the electronic MEdical Records & GEnomics (eMERGE) Network. Electronic selection logic using billing codes, laboratory values, text queries, and medication records was used to identify resistant hypertension cases and controls at each site, and a total of 3,006 cases of resistant hypertension and 876 controlled hypertensives were identified among eMERGE Phase I and II sites. After imputation and quality control, a total of 2,530,150 SNPs were tested for an association among 2,830 multi-ethnic cases of resistant hypertension and 876 controlled hypertensives. No test of association was genome-wide significant in the full dataset or in the dataset limited to European American cases (n = 1,719) and controls (n = 708). The most significant finding was CLNK rs13144136 at p = 1.00x10(-6) (odds ratio = 0.68; 95% CI = 0.58-0.80) in the full dataset with similar results in the European American only dataset. We also examined whether SNPs known to influence blood pressure or hypertension also influenced resistant hypertension. None was significant after correction for multiple testing. These data highlight both the difficulties and the potential utility of EHR-linked genomic data to study clinically-relevant traits such as resistant hypertension. C1 [Dumitrescu, Logan] Vanderbilt Univ, Sch Med, Dept Mol Physiol & Biophys, Nashville, TN 37212 USA. [Ritchie, Marylyn D.; Bradford, Yuki] Geisinger Hlth Syst, Biomed & Translat Informat, Danville, PA USA. [Denny, Joshua C.; Wang, Xiaoming] Vanderbilt Univ, Dept Biomed Informat, 221 Kirkland Hall, Nashville, TN 37235 USA. [Denny, Joshua C.; Ramirez, Andrea H.; Roden, Dan M.] Vanderbilt Univ, Dept Med, Nashville, TN USA. [El Rouby, Nihal M.; McDonough, Caitrin W.; Cooper-DeHoff, Rhonda M.; Johnson, Julie A.] Univ Florida, Coll Pharm, Dept Pharmacotherapy & Translat Res, Gainesville, FL USA. [El Rouby, Nihal M.; McDonough, Caitrin W.; Cooper-DeHoff, Rhonda M.; Johnson, Julie A.] Univ Florida, Coll Pharm, Ctr Pharmacogen, Gainesville, FL USA. [Bielinski, Suzette J.] Mayo Clin, Div Epidemiol, Rochester, MN USA. [Basford, Melissa A.] Vanderbilt Univ, Res Off, 221 Kirkland Hall, Nashville, TN 37235 USA. [Chai, High Seng; Pathak, Jyotishman; Matsumoto, Martha; de Andrade, Mariza] Mayo Clin, Div Biomed Stat & Informat, Dept Hlth Sci Res, Rochester, MN USA. [Peissig, Peggy] Marshfield Clin Res Fdn, Biomed Informat Res Ctr, Marshfield, WI USA. [Carrell, David; Larson, Eric B.] Grp Hlth Res Inst, Seattle, WA USA. [Rasmussen, Luke V.] Northwestern Univ, Dept Prevent Med, Div Hlth & Biomed Informat, Chicago, IL 60611 USA. [Pacheco, Jennifer A.; Smith, Maureen E.; Chisholm, Rex L.] Northwestern Univ, Ctr Genet Med, Chicago, IL 60611 USA. [Kho, Abel N.; Hayes, M. Geoffrey] Northwestern Univ, Dept Med, Feinberg Sch Med, Chicago, IL 60611 USA. [Li, Rongling] NHGRI, Div Genom Med, Bethesda, MD 20892 USA. [Cooper-DeHoff, Rhonda M.; Crawford, Dana C.] Case Western Reserve Univ, Inst Computat Biol, Epidemiol & Biostat, Cleveland, OH 44106 USA. [Kullo, Iftikhar J.] Mayo Clin, Dept Cardiovasc Dis, Rochester, MN USA. [Chute, Christopher G.] Johns Hopkins Univ, Div Gen Internal Med, Baltimore, MD USA. [Jarvik, Gail P.] Univ Washington, Med Ctr, Dept Med, Seattle, WA 98195 USA. [Carey, David] Geisinger Hlth Syst, Weis Ctr Res, Danville, PA USA. [McCarty, Catherine A.] Essentia Inst Rural Hlth, Duluth, MN USA. [Williams, Marc S.] Geisinger Hlth Syst, Genom Med Inst, Danville, PA USA. [Roden, Dan M.] Vanderbilt Univ, Dept Pharmacol, Nashville, TN USA. [Bottinger, Erwin] Mt Sinai, Charles R Bronfman Inst Personalized Med, New York, NY USA. [Johnson, Julie A.] Univ Florida, Coll Med, Div Cardiovasc Med, Gainesville, FL USA. RP Crawford, DC (reprint author), Case Western Reserve Univ, Inst Computat Biol, Epidemiol & Biostat, Cleveland, OH 44106 USA. EM dana.crawford@case.edu FU NHGRI; NIGMS [U01HG04599, U01HG006379, U01HG004610, U01HG006375, U01HG004608, U01HG004609, U01HG006388, U01HG04603, U01HG006378, U01HG006385, U01HG006382, U01HG006380, U01HG006830, U01HG006828]; Vanderbilt CTSA grant from NCATS/NIH [UL1 TR000445]; Mayo Clinic Biobank - Mayo Clinic Center for Individualized Medicine; NIH [R01 HL074730, U01 GM074492, U01 NS038529, R01 NS073346]; [KL2 TR001429] FX The eMERGE Network is funded by NHGRI, with additional funding from NIGMS through the following grants: U01HG04599 and U01HG006379 to Mayo Clinic; U01HG004610 and U01HG006375 to Group Health Cooperative and University of Washington, Seattle; U01HG004608 to Marshfield Clinic; U01HG006389 to Essentia Institute of Rural Health; U01HG004609 and U01HG006388 to Northwestern University; U01HG04603 and U01HG006378 to Vanderbilt University; U01HG006385 to the Coordinating Center; U01HG006382 to Geisinger Clinic; U01HG006380 to Mount Sinai School of Medicine; U01HG006830 to The Children's Hospital of Philadelphia; and U01HG006828 to Cincinnati Children's Hospital and Boston Children's Hospital. A portion of the dataset(s) used for the analyses described were obtained from Vanderbilt University Medical Centers BioVU, supported by institutional funding and by the Vanderbilt CTSA grant UL1 TR000445 from NCATS/NIH, and the Mayo Clinic Biobank supported by the Mayo Clinic Center for Individualized Medicine. INVEST-GENES was funded by NIH grants R01 HL074730 and U01 GM074492. SPS3 and SPS3-GENES were funded by NIH grants U01 NS038529, U01 GM074492, and R01 NS073346. CWM was also supported by KL2 TR001429. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 93 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 21 PY 2017 VL 12 IS 2 AR e0171745 DI 10.1371/journal.pone.0171745 PG 19 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL5QV UT WOS:000394676800017 PM 28222112 ER PT J AU Ulmer, B Tingler, M Kurz, S Maerker, M Andre, P Monch, D Campione, M Deissler, K Lewandoski, M Thumberger, T Schweickert, A Fainsod, A Steinbeisser, H Blum, M AF Ulmer, Baerbel Tingler, Melanie Kurz, Sabrina Maerker, Markus Andre, Philipp Moench, Dina Campione, Marina Deissler, Kirsten Lewandoski, Mark Thumberger, Thomas Schweickert, Axel Fainsod, Abraham Steinbeisser, Herbert Blum, Martin TI A novel role of the organizer gene Goosecoid as an inhibitor of Wnt/PCP-mediated convergent extension in Xenopus and mouse SO SCIENTIFIC REPORTS LA English DT Article ID PLANAR-CELL-POLARITY; NEURAL-TUBE CLOSURE; HOMEOBOX GENE; SIGNALING PATHWAYS; MARGINAL ZONE; SUBCELLULAR-LOCALIZATION; VERTEBRATE EMBRYOS; SPEMANNS ORGANIZER; AMPHIOXUS GENOME; GASTRULATION AB Goosecoid (Gsc) expression marks the primary embryonic organizer in vertebrates and beyond. While functions have been assigned during later embryogenesis, the role of Gsc in the organizer has remained enigmatic. Using conditional gain-of-function approaches in Xenopus and mouse to maintain Gsc expression in the organizer and along the axial midline, neural tube closure defects (NTDs) arose and dorsal extension was compromised. Both phenotypes represent convergent extension (CE) defects, arising from impaired Wnt/planar cell polarity (PCP) signaling. Dvl2 recruitment to the cell membrane was inhibited by Gsc in Xenopus animal cap assays and key Wnt/PCP factors (RhoA, Vangl2, Prickle, Wnt11) rescued Gsc-mediated NTDs. Re-evaluation of endogenous Gsc functions in MO-mediated gene knockdown frog and knockout mouse embryos unearthed PCP/CE-related phenotypes as well, including cartilage defects in Xenopus and misalignment of inner ear hair cells in mouse. Our results assign a novel function to Gsc as an inhibitor of Wnt/PCP-mediated CE. We propose that in the organizer Gsc represses CE as well: Gsc-expressing prechordal cells, which leave the organizer first, migrate and do not undergo CE like the Gsc-negative notochordal cells, which subsequently emerge from the organizer. In this model, Gsc provides a switch between cell migration and CE, i.e. cell intercalation. C1 [Ulmer, Baerbel; Tingler, Melanie; Kurz, Sabrina; Maerker, Markus; Andre, Philipp; Moench, Dina; Campione, Marina; Deissler, Kirsten; Thumberger, Thomas; Schweickert, Axel; Blum, Martin] Univ Hohenheim, Garbenstr 30, D-70599 Stuttgart, Germany. [Lewandoski, Mark] NCI, Canc & Dev Biol Lab, Genet Vertebrate Dev Sect, NIH, Frederick, MD 21702 USA. [Fainsod, Abraham] Hebrew Univ Jerusalem, Inst Med Res Israel Canada, Dept Dev Biol & Canc Res, IL-9112102 Jerusalem, Israel. [Steinbeisser, Herbert] Univ Heidelberg Hosp, Inst Human Genet, Neuenheimer Feld 366, D-69120 Heidelberg, Germany. [Ulmer, Baerbel] Univ Med Ctr Hamburg Eppendorf, Cardiovasc Res Ctr, Dept Expt Pharmacol & Toxicol, D-20246 Hamburg, Germany. [Campione, Marina] Univ Padua, CNR, Inst Neurosci, Dept Biomed Sci, I-35100 Padua, Italy. [Thumberger, Thomas] Heidelberg Univ, Ctr Organismal Studies COS Heidelberg, Neuenheimer Feld 230, D-69120 Heidelberg, Germany. RP Blum, M (reprint author), Univ Hohenheim, Garbenstr 30, D-70599 Stuttgart, Germany. EM martin.blum@uni-hohenheim.de FU Volkswagen Foundation; Landesgraduiertenforderung Baden-Wurttemberg FX This paper is dedicated to the memory of the late Herbert Steinbeiber, who passed away in 2014. He was involved in this project from its beginning in the 1990 s; the Dvl2 membrane recruitment experiments in animal caps were performed in his laboratory. We thank all members of the Blum lab for continuous support and suggestions. Verena Andre, Andreas Faissler, Simone Kienle, Anna Schafer and Susanne Seitz helped with some of the experiments. This work was supported by a grant from the Volkswagen Foundation to MB and a fellowship from the Landesgraduiertenforderung Baden-Wurttemberg to BU. NR 92 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 21 PY 2017 VL 7 AR 43010 DI 10.1038/srep43010 PG 17 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL5ZA UT WOS:000394699000001 PM 28220837 ER PT J AU Kwon, EM Connelly, JP Hansen, NF Donovan, FX Winkler, T Davis, BW Alkadi, H Chandrasekharappa, SC Dunbar, CE Mullikin, JC Liu, P AF Kwon, Erika M. Connelly, John P. Hansen, Nancy F. Donovan, Frank X. Winkler, Thomas Davis, Brian W. Alkadi, Halah Chandrasekharappa, Settara C. Dunbar, Cynthia E. Mullikin, James C. Liu, Paul TI iPSCs and fibroblast subclones from the same fibroblast population contain comparable levels of sequence variations SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE iPSCs; fibroblasts; reprogramming; genomic variation; exome sequencing ID PLURIPOTENT STEM-CELLS; COPY NUMBER VARIATION; HUMAN GENOME; SOMATIC MOSAICISM; CODING MUTATIONS; EXPRESSION AB Genome integrity of induced pluripotent stem cells (iPSCs) has been extensively studied in recent years, but it is still unclear whether iPSCs contain more genomic variations than cultured somatic cells. One important question is the origin of genomic variations detected in iPSCs-whether iPSC reprogramming induces such variations. Here, we undertook a unique approach by deriving fibroblast subclones and clonal iPSC lines from the same fibroblast population and applied next-generation sequencing to compare genomic variations in these lines. Targeted deep sequencing of parental fibroblasts revealed that most variants detected in clonal iPSCs and fibroblast subclones were rare variants inherited from the parental fibroblasts. Only a small number of variants remained undetectable in the parental fibroblasts, which were thus likely to be de novo. Importantly, the clonal iPSCs and fibroblast subclones contained comparable numbers of de novo variants. Collectively, our data suggest that iPSC reprogramming is not mutagenic. C1 [Kwon, Erika M.; Connelly, John P.; Alkadi, Halah; Liu, Paul] NHGRI, Oncogenesis & Dev Sect, NIH, Bethesda, MD 20892 USA. [Hansen, Nancy F.; Mullikin, James C.] NHGRI, Comparat Genom Unit, NIH Intramural Sequencing Ctr, NIH, Bethesda, MD 20892 USA. [Donovan, Frank X.; Chandrasekharappa, Settara C.] NHGRI, Genom Core, NIH, Bethesda, MD 20892 USA. [Winkler, Thomas; Dunbar, Cynthia E.] NHLBI, Hematol Branch, NIH, Bethesda, MD 20892 USA. [Davis, Brian W.] NHGRI, Canc Genet & Comparat Genom Branch, Bethesda, MD 20892 USA. [Connelly, John P.] Washington Univ, Genome Engn & iPSC Ctr, St Louis, MO 63110 USA. RP Liu, P (reprint author), NHGRI, Oncogenesis & Dev Sect, NIH, Bethesda, MD 20892 USA. EM pliu@mail.nih.gov FU Intramural Research Programs of National Human Genome Research Institute; National Heart, Lung, and Blood Institute, NIH FX We thank Dionyssia Clagett (Georgetown University) for establishing fibroblast lines from patients with FPD, Ms. Ursula Harper for performing short tandem repeat mapping for sample identify confirmation, members of the NIH Intramural Sequencing Center for their support on WES and targeted sequencing, and Julia Fekecs for expert design of Fig. 1. The research was supported by the Intramural Research Programs of National Human Genome Research Institute and National Heart, Lung, and Blood Institute, NIH. NR 32 TC 0 Z9 0 U1 2 U2 2 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 21 PY 2017 VL 114 IS 8 BP 1964 EP 1969 DI 10.1073/pnas.1616035114 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1TI UT WOS:000395099500075 PM 28167771 ER PT J AU Kurth, EG Peremyslov, VV Turner, HL Makarova, KS Iranzo, J Mekhedov, SL Koonin, EV Dolja, VV AF Kurth, Elizabeth G. Peremyslov, Valera V. Turner, Hannah L. Makarova, Kira S. Iranzo, Jaime Mekhedov, Sergei L. Koonin, Eugene V. Dolja, Valerian V. TI Myosin-driven transport network in plants SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE myosins; receptors; adaptors; cytoplasmic streaming; nuclear transport ID CLASS-XI MYOSINS; F-ACTIN ORGANIZATION; ROOT HAIR; CELL EXPANSION; ARABIDOPSIS; PROTEIN; TRAFFICKING; MEMBRANE; MOTILITY; DOMAIN AB We investigate the myosin XI-driven transport network in Arabidopsis using protein-protein interaction, subcellular localization, gene knockout, and bioinformatics analyses. The two major groups of nodes in this network are myosins XI and their membrane-anchored receptors (MyoB) that, together, drive endomembrane trafficking and cytoplasmic streaming in the plant cells. The network shows high node connectivity and is dominated by generalists, with a smaller fraction of more specialized myosins and receptors. We show that interaction with myosins and association with motile vesicles are common properties of the MyoB family receptors. We identify previously uncharacterized myosin-binding proteins, putative myosin adaptors that belong to two unrelated families, with four members each (MadA and MadB). Surprisingly, MadA1 localizes to the nucleus and is rapidly transported to the cytoplasm, suggesting the existence of myosin XI-driven nucleocytoplasmic trafficking. In contrast, MadA2 and MadA3, as well as MadB1, partition between the cytosolic pools of motile endomembrane vesicles that colocalize with myosin XI-K and diffuse material that does not. Gene knockout analysis shows that MadB1-4 contribute to polarized root hair growth, phenocopying myosins, whereas MadA1-4 are redundant for this process. Phylogenetic analysis reveals congruent evolutionary histories of the myosin XI, MyoB, MadA, and MadB families. All these gene families emerged in green algae and show concurrent expansions via serial duplication in flowering plants. Thus, the myosin XI transport network increased in complexity and robustness concomitantly with the land colonization by flowering plants and, by inference, could have been a major contributor to this process. C1 [Kurth, Elizabeth G.; Peremyslov, Valera V.; Turner, Hannah L.; Dolja, Valerian V.] Oregon State Univ, Dept Bot & Plant Pathol, Corvallis, OR 97331 USA. [Makarova, Kira S.; Iranzo, Jaime; Mekhedov, Sergei L.; Koonin, Eugene V.; Dolja, Valerian V.] Natl Inst Hlth, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. [Dolja, Valerian V.] Oregon State Univ, Ctr Genome Res & Biocomp, Corvallis, OR 97331 USA. RP Koonin, EV; Dolja, VV (reprint author), Natl Inst Hlth, Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA.; Dolja, VV (reprint author), Oregon State Univ, Ctr Genome Res & Biocomp, Corvallis, OR 97331 USA. EM koonin@ncbi.nlm.nih.gov; doljav@oregonstate.edu FU US-Israel Binational Science Foundation [2013084]; US Department of Health and Human Services FX We thank Prof. Viktor Zarsky for critical reading of the manuscript and helpful suggestions. V.V.D. is a Fellow, Scientific Visitors Program, National Center for Biotechnology Information, NIH. The work in the V.V.D. laboratory was supported, in part, by US-Israel Binational Science Foundation Award 2013084. The research in group of E.V.K. is supported by intramural funds of the US Department of Health and Human Services (to the National Library of Medicine). NR 53 TC 1 Z9 1 U1 2 U2 2 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 21 PY 2017 VL 114 IS 8 BP E1385 EP E1394 DI 10.1073/pnas.1620577114 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM1TI UT WOS:000395099500011 PM 28096376 ER PT J AU DeFilippis, AP Young, R McEvoy, JW Michos, ED Sandfort, V Kronmal, RA McClelland, RL Blaha, MJ AF DeFilippis, Andrew Paul Young, Rebekah McEvoy, John W. Michos, Erin D. Sandfort, Veit Kronmal, Richard A. McClelland, Robyn L. Blaha, Michael J. TI Risk score overestimation: the impact of individual cardiovascular risk factors and preventive therapies on the performance of the American Heart Association-American College of Cardiology-Atherosclerotic Cardiovascular Disease risk score in a modern multi-ethnic cohort SO EUROPEAN HEART JOURNAL LA English DT Article DE Cardiovascular risk prediction; Prevention; Risk factors ID POPULATION; VALIDATION; GUIDELINES; STATINS; DESIGN AB Aims To evaluate the 2013 American Heart Association (AHA)-American College of Cardiology (ACC)-Atherosclerotic Cardiovascular Disease (ASCVD) risk score among four different race/ethnic groups and to ascertain which factors are most associated with risk overestimation by the AHA-ACC-ASCVD score. Methods and results The Multi-Ethnic Study of Atherosclerosis (MESA), a prospective community-based cohort, was used to examine calibration and discrimination of the AHA-ACC-ASCVD risk score in 6441 White, Black, Chinese, and Hispanic Americans (aged 45-79 years and free of known ASCVD at baseline). Using univariable and multivariable absolute risk regression, we modelled the impact of individual risk factors on the discordance between observed and predicted 10-year ASCVD risk. Overestimation was observed in all race/ethnic groups in MESA and was highest among Chinese (252% for women and 314% for men) and lowest in White women (72%) and Hispanic men (67%). Higher age, Chinese race/ethnicity (when compared with White), systolic blood pressure (treated and untreated), diabetes, alcohol use, exercise, lipid-lowering medication, and aspirin use were all associated with more risk overestimation, whereas family history was associated with less risk overestimation in a multivariable model (all P< 0.05). Conclusion The AHA-ACC-ASCVD risk score overestimates ASCVD risk among men, women, and all four race/ethnic groups evaluated in a modern American primary prevention cohort. Clinicians treating patients similar to those in MESA, particularly older individuals and those with factors associated with more risk overestimation, may consider interpreting absolute ASCVD risk estimates with caution. C1 [DeFilippis, Andrew Paul] Jewish Hosp, Louisville, KY 40202 USA. [DeFilippis, Andrew Paul; McEvoy, John W.; Michos, Erin D.; Blaha, Michael J.] Johns Hopkins Ciccarone Ctr Prevent Heart Dis, Baltimore, MD 21287 USA. [DeFilippis, Andrew Paul] Univ Louisville, Div Cardiovasc Med, 550 South Jackson St, Louisville, KY 40202 USA. [Young, Rebekah; Kronmal, Richard A.; McClelland, Robyn L.] Univ Washington, Seattle, WA 98195 USA. [Sandfort, Veit] NIH, Bldg 10, Bethesda, MD 20892 USA. RP DeFilippis, AP (reprint author), Jewish Hosp, Louisville, KY 40202 USA.; DeFilippis, AP (reprint author), Johns Hopkins Ciccarone Ctr Prevent Heart Dis, Baltimore, MD 21287 USA.; DeFilippis, AP (reprint author), Univ Louisville, Div Cardiovasc Med, 550 South Jackson St, Louisville, KY 40202 USA. EM apdefi01@louisville.edu FU National Heart, Lung, and Blood Institute [N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169]; NCRR [UL1-TR-000040, UL1-TR-001079] FX This research was supported by contracts N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, and N01-HC-95169 from the National Heart, Lung, and Blood Institute and by grants UL1-TR-000040 and UL1-TR-001079 from NCRR. NR 22 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0195-668X EI 1522-9645 J9 EUR HEART J JI Eur. Heart J. PD FEB 21 PY 2017 VL 38 IS 8 BP 598 EP 608 DI 10.1093/eurheartj/ehw301 PG 11 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EO6EL UT WOS:000396784600007 PM 27436865 ER PT J AU Fradkin, JE Rodgers, GP AF Fradkin, Judith E. Rodgers, Griffin P. TI Glycemic Therapy for Type 2 Diabetes: Choices Expand, Data Lag Behind SO ANNALS OF INTERNAL MEDICINE LA English DT Editorial Material ID DRUGS C1 [Fradkin, Judith E.; Rodgers, Griffin P.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Fradkin, Judith E.] MSC 2560,6707 Democracy Blvd, Bethesda, MD 20892 USA. [Rodgers, Griffin P.] 31 Ctr Dr,Room 9A52, Bethesda, MD 20892 USA. RP Fradkin, JE (reprint author), MSC 2560,6707 Democracy Blvd, Bethesda, MD 20892 USA. EM judith.fradkin@nih.gov NR 9 TC 0 Z9 0 U1 0 U2 0 PU AMER COLL PHYSICIANS PI PHILADELPHIA PA INDEPENDENCE MALL WEST 6TH AND RACE ST, PHILADELPHIA, PA 19106-1572 USA SN 0003-4819 EI 1539-3704 J9 ANN INTERN MED JI Ann. Intern. Med. PD FEB 21 PY 2017 VL 166 IS 4 BP 309 EP + DI 10.7326/M16-2883 PG 3 WC Medicine, General & Internal SC General & Internal Medicine GA EL7FO UT WOS:000394786700026 PM 28055042 ER PT J AU McCullough, LE Chen, J Cho, YH Khankari, NK Bradshaw, PT White, AJ Teitelbaum, SL Terry, MB Neugut, AI Hibshoosh, H Santella, RM Gammon, MD AF McCullough, Lauren E. Chen, Jia Cho, Yoon Hee Khankari, Nikhil K. Bradshaw, Patrick T. White, Alexandra J. Teitelbaum, Susan L. Terry, Mary Beth Neugut, Alfred I. Hibshoosh, Hanina Santella, Regina M. Gammon, Marilie D. TI Modification of the association between recreational physical activity and survival after breast cancer by promoter methylation in breast cancer-related genes SO BREAST CANCER RESEARCH LA English DT Article DE Physical activity; Epigenetics; Methylation; Breast cancer; Survival ID CPG ISLAND HYPERMETHYLATION; DNA METHYLATION; LONG-ISLAND; CELL; TUMOR; TIME; EXPRESSION; SUBTYPES; CARCINOGENESIS; EPIGENETICS AB Background: Mechanisms underlying the inverse association between physical activity and survival after breast cancer are unresolved, but DNA methylation may play a role. We hypothesized that promoter methylation of breast cancer-related genes, as well as global methylation, may modify the association between prediagnostic recreational physical activity (RPA) and breast cancer mortality. Methods: Using a population-based sample of 1254 women diagnosed with first primary breast cancer, we examined modification of the RPA-mortality association by gene-specific promoter methylation and global methylation. Average lifetime RPA was assessed from menarche to diagnosis through structured in-home interviews. Promoter methylation of 13 breast cancer-related genes was evaluated in archived tumor by methylation-specific polymerase chain reaction and MethyLight assay. Global methylation in white blood cell DNA was determined at long interspersed nucleotide element 1 and by the luminometric methylation assay. After approximately 15 years of follow-up, 486 patients had died, and 186 of the deaths were breast cancer-related. We used Cox proportional hazards regression to estimate HRs and 95% CIs as well as likelihood ratio tests to assess multiplicative interactions. Results: All-cause mortality was lower only among physically active women with methylated promoter of APC (HR 0.60, 95% CI 0.40-0.80), CCND2 (HR 0.56, 95% CI 0.32-0.99), HIN (HR 0.55, 95% CI 0.38-0.80), and TWIST1 (HR 0.28, 95% CI 0.14-0.56) in tumors, but not among those with unmethylated tumors (significant interaction p < 0.05). We found no interaction between RPA and global methylation. Conclusions: The improved survival after breast cancer that is associated with RPA may be more pronounced in women with promoter tumor methylation in biologically plausible genes. C1 [McCullough, Lauren E.] Emory Univ, Dept Epidemiol, Atlanta, GA 30322 USA. [Chen, Jia; Teitelbaum, Susan L.] Icahn Sch Med Mt Sinai, Dept Prevent Med, New York, NY 10029 USA. [Chen, Jia] Icahn Sch Med Mt Sinai, Dept Pediat, New York, NY 10029 USA. [Chen, Jia] Icahn Sch Med Mt Sinai, Dept Oncol Sci, New York, NY 10029 USA. [Cho, Yoon Hee] Univ Montana, Dept Biomed & Pharmaceut Sci, Missoula, MT 59812 USA. [Khankari, Nikhil K.] Vanderbilt Univ, Med Ctr, Div Epidemiol, Nashville, TN 37203 USA. [Bradshaw, Patrick T.] Univ Calif Berkeley, Div Epidemiol, Berkeley, CA 94720 USA. [White, Alexandra J.] NIEHS, Epidemiol Branch, Res Triangle Pk, NC 27709 USA. [Terry, Mary Beth; Neugut, Alfred I.] Columbia Univ, Dept Epidemiol, New York, NY 10032 USA. [Neugut, Alfred I.] Columbia Univ, Dept Med, New York, NY 10032 USA. [Hibshoosh, Hanina] Columbia Univ, Dept Pathol, New York, NY 10032 USA. [Santella, Regina M.] Columbia Univ, Dept Environm Hlth Sci, New York, NY 10032 USA. [Gammon, Marilie D.] Univ North Carolina Chapel Hill, Dept Epidemiol, Chapel Hill, NC 27599 USA. RP McCullough, LE (reprint author), Emory Univ, Dept Epidemiol, Atlanta, GA 30322 USA. EM lauren.mccullough@emory.edu FU National Institutes of Health [R25CA057726, U01CA/ES66572, R01CA66572, R01CA109753, 3R01CA109753-04S1, P30ES009089, P30ES10126]; U.S. Department of Defense [BC972772]; Intramural Research Program of the National Institutes of Health through the National Institute of Environmental Health Sciences FX This work was supported in part by grants from the National Institutes of Health (R25CA057726, U01CA/ES66572, R01CA66572, R01CA109753, 3R01CA109753-04S1, P30ES009089, P30ES10126) and the U.S. Department of Defense (BC972772). This research was also supported in part by the Intramural Research Program of the National Institutes of Health through the National Institute of Environmental Health Sciences. NR 56 TC 0 Z9 0 U1 4 U2 4 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1465-542X EI 1465-5411 J9 BREAST CANCER RES JI Breast Cancer Res. PD FEB 21 PY 2017 VL 19 AR 19 DI 10.1186/s13058-017-0811-z PG 11 WC Oncology SC Oncology GA EL7UB UT WOS:000394825000001 PM 28222775 ER PT J AU Mattapallil, MJ Caspi, RR AF Mattapallil, Mary J. Caspi, Rachel R. TI Compliments of Factor H: What's in it for AMD? SO IMMUNITY LA English DT Editorial Material ID MACULAR DEGENERATION AB Genetic variations in complement factor H (CFH) confer greater risk for age-related macular degeneration (AMD). In this issue of Immunity, Calippe et al. (2017) uncover a non-canonical role for CFH in the inhibition of mononuclear phagocyte elimination from sub-retinal lesions, providing insight into the pathophysiology of AMD associated with CFH variants. C1 [Mattapallil, Mary J.; Caspi, Rachel R.] NEI, Bethesda, MD 20892 USA. RP Caspi, RR (reprint author), NEI, Bethesda, MD 20892 USA. EM caspir@nei.nih.gov FU NIH/NEI Intramural grant [ZIA EY000184-34] FX NIH/NEI Intramural grant ZIA EY000184-34 (R.R.C.) provided funding for this research. NR 9 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1074-7613 EI 1097-4180 J9 IMMUNITY JI Immunity PD FEB 21 PY 2017 VL 46 IS 2 BP 167 EP 169 DI 10.1016/j.immuni.2017.02.008 PG 4 WC Immunology SC Immunology GA EO0TM UT WOS:000396410900003 PM 28228273 ER PT J AU Brewitz, A Eickhoff, S Dahling, S Quast, T Bedoui, S Kroczek, RA Kurts, C Garbi, N Barchet, W Iannacone, M Klauschen, F Kolanus, W Kaisho, T Colonna, M Germain, RN Kastenmuller, W AF Brewitz, Anna Eickhoff, Sarah Daehling, Sabrina Quast, Thomas Bedoui, Sammy Kroczek, Richard A. Kurts, Christian Garbi, Natalio Barchet, Winfried Iannacone, Matteo Klauschen, Frederick Kolanus, Waldemar Kaisho, Tsuneyasu Colonna, Marco Germain, Ronald N. Kastenmueller, Wolfgang TI CD8(+) T Cells Orchestrate pDC-XCR1(+) Dendritic Cell Spatial and Functional Cooperativity to Optimize Priming SO IMMUNITY LA English DT Article ID LYMPH-NODES; ANTIVIRAL IMMUNITY; CROSS-PRESENTATION; VIRAL-INFECTION; VIRUS-INFECTION; IFN-GAMMA; IN-VIVO; ACTIVATION; ANTIGEN; CD4(+) AB Adaptive cellular immunity is initiated by antigenspecific interactions between T lymphocytes and dendritic cells (DCs). Plasmacytoid DCs (pDCs) support antiviral immunity by linking innate and adaptive immune responses. Here we examined pDC spatiotemporal dynamics during viral infection to uncover when, where, and how they exert their functions. We found that pDCs accumulated at sites of CD8(+) T cell antigen-driven activation in a CCR5-dependent fashion. Furthermore, activated CD8(+) T cells orchestrated the local recruitment of lymph node-resident XCR1 chemokine receptor-expressing DCs via secretion of the XCL1 chemokine. Functionally, this CD8+ T cell-mediated reorganization of the local DC network allowed for the interaction and cooperation of pDCs and XCR1(+) DCs, thereby optimizing XCR1(+) DC maturation and cross-presentation. These data support a model in which CD8(+) T cells upon activation create their own optimal priming microenvironment by recruiting additional DC subsets to the site of initial antigen recognition. C1 [Brewitz, Anna; Eickhoff, Sarah; Daehling, Sabrina; Kurts, Christian; Garbi, Natalio; Kastenmueller, Wolfgang] Univ Bonn, Inst Expt Immunol, D-53127 Bonn, Germany. [Quast, Thomas; Kolanus, Waldemar] Univ Bonn, Mol Immunol & Cell Biol Life & Med Sci Inst, D-53115 Bonn, Germany. [Bedoui, Sammy] Univ Melbourne, Peter Doherty Inst Infect & Immun, Dept Microbiol & Immunol, Parkville, Vic 3010, Australia. [Kroczek, Richard A.] Robert Koch Inst, Mol Immunol, D-13353 Berlin, Germany. [Barchet, Winfried] Univ Bonn, Inst Clin Chem & Clin Pharmacol, D-53127 Bonn, Germany. [Iannacone, Matteo] Univ Vita Salute San Raffaele, Div Immunol Transplantat & Infect Dis, Via Olgettina 58, I-20132 Milan, Italy. [Iannacone, Matteo] Univ Vita Salute San Raffaele, Expt Imaging Ctr, IRCCS San Raffaele Sci Inst, Via Olgettina 58, I-20132 Milan, Italy. [Klauschen, Frederick] Charite, Inst Pathol, CharitePlatz 1, D-10117 Berlin, Germany. [Klauschen, Frederick] Einstein Fdn Berlin, D-10117 Berlin, Germany. [Kaisho, Tsuneyasu] Wakayama Med Univ, Inst Adv Med, Dept Immunol, Wakayama 6418509, Japan. [Kaisho, Tsuneyasu] RIKEN Ctr Integrat Med Sci IMS RCAI, Lab Inflammatory Regulat, Yokohama, Kanagawa 2300045, Japan. [Kaisho, Tsuneyasu] Osaka Univ, World Premier Int Res Ctr Initiat, Immunol Frontier Res Ctr, Lab Immune Regulat, Suita, Osaka 5650871, Japan. [Colonna, Marco] Washington Univ, Sch Med, Dept Pathol & Immunol, St Louis, MO 63108 USA. [Germain, Ronald N.] Natl Inst Allergy & Infect Dis, Lab Syst Biol, Lymphocyte Biol Sect, NIH, Bethesda, MD 20892 USA. [Brewitz, Anna; Eickhoff, Sarah; Daehling, Sabrina; Kurts, Christian; Garbi, Natalio; Kastenmueller, Wolfgang] Univ Hosp, Inst Expt Immunol, D-53127 Bonn, Germany. [Barchet, Winfried; Kastenmueller, Wolfgang] Univ Hosp, Inst Clin Chem & Clin Pharmacol, D-53127 Bonn, Germany. RP Kastenmuller, W (reprint author), Univ Bonn, Inst Expt Immunol, D-53127 Bonn, Germany.; Kastenmuller, W (reprint author), Univ Hosp, Inst Expt Immunol, D-53127 Bonn, Germany.; Kastenmuller, W (reprint author), Univ Hosp, Inst Clin Chem & Clin Pharmacol, D-53127 Bonn, Germany. EM wkastenm@uni-bonn.de FU NRW-Ruckkehrerprogramm of the German state of Northrhine-Westfalia; Kishimoto Foundation; Japan Society for the Promotion of Science (JSPS) [26293106]; Einstein Foundation Berlin; Intramural Research Program, NIAID, NIH; DFG Graduate program [2168/1]; [SFB704] FX We would like to thank S. Ebbinghaus and S. Rathmann for technical assistance and D.H. Busch for kindly providing MHCI multimers. This research was supported by the Intramural Research Program, NIAID, NIH. W. Kastenmuller, N.G., C.K., and W. Kolanus are members of the DFG Excellence Cluster ImmunoSensation in Bonn, Germany, and are supported by grant SFB704. S.D., S.B., and W. Kastenmuller are supported by the DFG Graduate program 2168/1 (Bo&MeRang). W. Kastenmuller is supported by NRW-Ruckkehrerprogramm of the German state of Northrhine-Westfalia. T.K. was supported by the Kishimoto Foundation and a Grant-in-Aid for Scientific Research (B) from Japan Society for the Promotion of Science (JSPS, 26293106). F.K. is supported by the Einstein Foundation Berlin (JF-Klauschen-2014). NR 47 TC 1 Z9 1 U1 4 U2 4 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1074-7613 EI 1097-4180 J9 IMMUNITY JI Immunity PD FEB 21 PY 2017 VL 46 IS 2 BP 205 EP 219 DI 10.1016/j.immuni.2017.01.003 PG 15 WC Immunology SC Immunology GA EO0TM UT WOS:000396410900010 PM 28190711 ER PT J AU Paules, CI Fauci, AS AF Paules, Catharine I. Fauci, Anthony S. TI Emerging and Reemerging Infectious Diseases The Dichotomy Between Acute Outbreaks and Chronic Endemicity SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Editorial Material ID ZIKA VIRUS-INFECTION; WEST NILE VIRUS C1 [Paules, Catharine I.; Fauci, Anthony S.] NIAID, Off Director, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Fauci, AS (reprint author), NIAID, 31 Ctr Dr,MSC 2520,Bldg 31,Room 7A-03, Bethesda, MD 20892 USA. EM afauci@niaid.nih.gov NR 7 TC 0 Z9 0 U1 3 U2 3 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD FEB 21 PY 2017 VL 317 IS 7 BP 691 EP 692 DI 10.1001/jama.2016.21079 PG 2 WC Medicine, General & Internal SC General & Internal Medicine GA EL8WR UT WOS:000394901600011 PM 28097318 ER PT J AU Resnick, SM Matsumoto, AM Stephens-Shields, AJ Ellenberg, SS Gill, TM Shumaker, SA Pleasants, DD Barrett-Connor, E Bhasin, S Cauley, JA Cella, D Crandall, JP Cunningham, GR Ensrud, KE Farrar, JT Lewis, CE Molitch, ME Pahor, M Swerdloff, RS Cifelli, D Anton, S Basaria, S Diem, SJ Wang, C Hou, XL Snyder, PJ AF Resnick, Susan M. Matsumoto, Alvin M. Stephens-Shields, Alisa J. Ellenberg, Susan S. Gill, Thomas M. Shumaker, Sally A. Pleasants, Debbie D. Barrett-Connor, Elizabeth Bhasin, Shalender Cauley, Jane A. Cella, David Crandall, Jill P. Cunningham, Glenn R. Ensrud, Kristine E. Farrar, John T. Lewis, Cora E. Molitch, Mark E. Pahor, Marco Swerdloff, Ronald S. Cifelli, Denise Anton, Stephen Basaria, Shehzad Diem, Susan J. Wang, Christina Hou, Xiaoling Snyder, Peter J. TI Testosterone Treatment and Cognitive Function in Older Men With Low Testosterone and Age-Associated Memory Impairment SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID SERUM TESTOSTERONE; SEX-HORMONES; ALZHEIMER-DISEASE; VERBAL MEMORY; ELDERLY-MEN; SUPPLEMENTATION; TRIAL; PERFORMANCE; DEPRESSION AB IMPORTANCE Most cognitive functions decline with age. Prior studies suggest that testosterone treatment may improve these functions. OBJECTIVE To determine if testosterone treatment compared with placebo is associated with improved verbal memory and other cognitive functions in older men with low testosterone and age-associated memory impairment (AAMI). DESIGN, SETTING, AND PARTICIPANTS The Testosterone Trials (TTrials) were 7 trials to assess the efficacy of testosterone treatment in older men with low testosterone levels. The Cognitive Function Trial evaluated cognitive function in all TTrials participants. In 12 US academic medical centers, 788 men who were 65 years or older with a serum testosterone level less than 275 ng/mL and impaired sexual function, physical function, or vitality were allocated to testosterone treatment (n = 394) or placebo (n = 394). A subgroup of 493 men met criteria for AAMI based on baseline subjective memory complaints and objective memory performance. Enrollment in the TTrials began June 24, 2010; the final participant completed treatment and assessment in June 2014. INTERVENTIONS Testosterone gel (adjusted to maintain the testosterone level within the normal range for young men) or placebo gel for 1 year. MAIN OUTCOMES AND MEASURES The primary outcome was the mean change from baseline to 6 months and 12 months for delayed paragraph recall (score range, 0 to 50) among men with AAMI. Secondary outcomes were mean changes in visual memory (Benton Visual Retention Test; score range, 0 to -26), executive function (Trail-Making Test B minus A; range, -290 to 290), and spatial ability (Card Rotation Test; score range, -80 to 80) among men with AAMI. Tests were administered at baseline, 6 months, and 12 months. RESULTS Among the 493 men with AAMI (mean age, 72.3 years [SD, 5.8]; mean baseline testosterone, 234 ng/dL [SD, 65.1]), 247were assigned to receive testosterone and 246 to receive placebo. Of these groups, 247 men in the testosterone group and 245 men in the placebo completed the memory study. There was no significant mean change from baseline to 6 and 12 months in delayed paragraph recall score among men with AAMI in the testosterone and placebo groups (adjusted estimated difference, -0.07 [95% CI, -0.92 to 0.79]; P = .88). Mean scores for delayed paragraph recall were 14.0 at baseline, 16.0 at 6 months, and 16.2 at 12 months in the testosterone group and 14.4 at baseline, 16.0 at 6 months, and 16.5 at 12 months in the placebo group. Testosterone was also not associated with significant differences in visual memory (-0.28 [95% CI, -0.76 to 0.19]; P = .24), executive function (-5.51 [95% CI, -12.91 to 1.88]; P = .14), or spatial ability (-0.12 [95% CI, -1.89 to 1.65]; P = .89). CONCLUSIONS AND RELEVANCE Among older men with low testosterone and age-associated memory impairment, treatment with testosterone for 1 year compared with placebo was not associated with improved memory or other cognitive functions. C1 [Snyder, Peter J.] Univ Penn, Div Endocrinol Diabet & Metab, Perelman Sch Med, 3400 Civ Ctr Blvd, Philadelphia, PA 19104 USA. [Resnick, Susan M.] NIA, Lab Behav Neurosci, NIH, Baltimore, MD 21224 USA. [Matsumoto, Alvin M.] Dept Vet Affairs Puget Sound Hlth Care Syst, Geriatr Res Educ & Clin Ctr, Seattle, WA USA. [Matsumoto, Alvin M.] Univ Washington, Sch Med, Dept Internal Med, Div Gerontol & Geriatr Med, Seattle, WA USA. [Stephens-Shields, Alisa J.; Ellenberg, Susan S.; Hou, Xiaoling] Univ Penn, Dept Biostat & Epidemiol, Perelman Sch Med, Philadelphia, PA 19104 USA. [Gill, Thomas M.] Yale Sch Med, Div Geriatr Med, New Haven, CT USA. [Shumaker, Sally A.; Pleasants, Debbie D.; Basaria, Shehzad] Wake Forest Sch Med, Winston Salem, NC USA. [Barrett-Connor, Elizabeth] Univ Calif San Diego, Sch Med, Dept Internal Med, La Jolla, CA 92093 USA. [Barrett-Connor, Elizabeth] Univ Calif San Diego, Sch Med, Div Epidemiol, Dept Family Med & Publ Hlth, La Jolla, CA 92093 USA. [Bhasin, Shalender] Harvard Med Sch, Brigham & Womens Hosp, Res Program Mens Hlth Aging & Metab, Boston, MA USA. [Cauley, Jane A.] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Epidemiol, Pittsburgh, PA 15260 USA. [Cella, David] Northwestern Univ, Dept Med Social Sci, Feinberg Sch Med, Chicago, IL 60611 USA. [Crandall, Jill P.] Albert Einstein Coll Med, Div Endocrinol, Bronx, NY 10467 USA. [Crandall, Jill P.] Albert Einstein Coll Med, Div Geriatr, Bronx, NY 10467 USA. [Cunningham, Glenn R.] Baylor Coll Med, Dept Med, Div Diabet Endocrinol & Metab, Houston, TX 77030 USA. [Cunningham, Glenn R.] Baylor Coll Med, Dept Mol & Cellular Biol, Div Diabet Endocrinol & Metab, Houston, TX 77030 USA. [Cunningham, Glenn R.] Baylor St Lukes Med Ctr, Houston, TX USA. [Cunningham, Glenn R.; Ensrud, Kristine E.; Diem, Susan J.] Univ Minnesota, Dept Med, Div Epidemiol & Community Hlth, Box 736 UMHC, Minneapolis, MN 55455 USA. [Ensrud, Kristine E.] Minneapolis Vet Affairs Hlth Care Syst, Minneapolis, MN USA. [Farrar, John T.; Cifelli, Denise] Univ Penn, Perelman Sch Med, Ctr Clin Epidemiol & Biostat, Philadelphia, PA 19104 USA. [Lewis, Cora E.] Univ Alabama Birmingham, Div Prevent Med, Birmingham, AL USA. [Molitch, Mark E.] Northwestern Univ, Div Endocrinol Metab & Mol Med, Feinberg Sch Med, Chicago, IL 60611 USA. [Pahor, Marco; Anton, Stephen] Univ Florida, Dept Aging & Geriatr Res, Gainesville, FL USA. [Swerdloff, Ronald S.; Wang, Christina] Harbor Univ Calif Los Angeles Med Ctr, Div Endocrinol, Torrance, CA USA. [Swerdloff, Ronald S.; Wang, Christina] Los Angeles Biomed Res Inst, Torrance, CA USA. RP Snyder, PJ (reprint author), Univ Penn, Div Endocrinol Diabet & Metab, Perelman Sch Med, 3400 Civ Ctr Blvd, Philadelphia, PA 19104 USA. EM pjs@mail.med.upenn.edu FU NIA/NIH [U01 AG030644, R01 AG37679]; National Heart, Lung, and Blood Institute; National Institute of Neurological Disorders and Stroke; National Institute of Child Health and Human Development; AndroGel; placebo gel; Claude D. Pepper Older Americans Independence Center (OAIC) [P30-AG013679]; Claude D. Pepper OAIC [P30AG021342]; Yale Clinical and Translational Science Award [UL1TR000142]; Department of Veterans Affairs Puget Sound Health Care System; NIA [K07AG043587]; Intramural Research Program of NIA/NIH; National Institute for Diabetes and Digestive and Kidney Diseases of NIH [DK079626]; Boston Claude D. Pepper OAIC [5P30AG031679] FX The Testosterone Trials were supported by grant U01 AG030644 from the NIA/NIH, supplemented by funds from the National Heart, Lung, and Blood Institute; National Institute of Neurological Disorders and Stroke; and National Institute of Child Health and Human Development. AbbVie provided funding, AndroGel, and placebo gel. The Boston site was partially supported by grant P30-AG013679 from the Claude D. Pepper Older Americans Independence Center (OAIC). The Yale Field Center was partially supported by grant P30AG021342 from the Claude D. Pepper OAIC and grant UL1TR000142 from the Yale Clinical and Translational Science Award. Additional support was from the Department of Veterans Affairs Puget Sound Health Care System (Dr Matsumoto); the Academic Leadership Award (K07AG043587) from the NIA (Dr Gill); the Intramural Research Program of NIA/NIH (Dr Resnick); grant DK079626 from the National Institute for Diabetes and Digestive and Kidney Diseases of NIH to the University of Alabama at Birmingham Diabetes Research and Training Center (Dr Lewis); grant R01 AG37679 from NIA/NIH (Dr Cauley); and grant 5P30AG031679 from the Boston Claude D. Pepper OAIC (Dr Bhasin). NR 37 TC 1 Z9 1 U1 1 U2 1 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD FEB 21 PY 2017 VL 317 IS 7 BP 717 EP 727 DI 10.1001/jama.2016.21044 PG 11 WC Medicine, General & Internal SC General & Internal Medicine GA EL8WR UT WOS:000394901600019 PM 28241356 ER PT J AU Deedwania, P Acharya, T AF Deedwania, Prakash Acharya, Tushar TI Anticoagulation in Atrial Fibrillation Is the Paradigm Really Shifting? SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Editorial Material DE atrial fibrillation; novel oral anticoagulant agents; registry data; stroke prevention ID ANTITHROMBOTIC THERAPY; ORAL ANTICOAGULANTS; AF; MANAGEMENT; REGISTRY C1 [Deedwania, Prakash] Univ Calif San Francisco, Dept Internal Med, Div Cardiol, Fresno, CA USA. [Acharya, Tushar] NHLBI, Adv Cardiovasc Imaging Lab, Cardiovasc & Pulm Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Deedwania, P (reprint author), Univ Calif San Francisco, Dept Internal Med, Div Cardiol, Acad Off, 2335 East Kashian Lane,Suite 460, Fresno, CA 93701 USA. EM pdeedwania@fresno.ucsf.edu NR 12 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD FEB 21 PY 2017 VL 69 IS 7 BP 786 EP 788 DI 10.1016/j.jacc.2016.11.062 PG 3 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EN9SR UT WOS:000396340400004 PM 28209219 ER PT J AU Webb, TR Erdmann, J Stirrups, KE Stitziel, NO Masca, NGD Jansen, H Kanoni, S Nelson, CP Ferrario, PG Konig, IR Eicher, JD Johnson, AD Hamby, SE Betsholtz, C Ruusalepp, A Franzen, O Schadt, EE Bjorkegren, JLM Weeke, PE Auer, PL Schick, UM Lu, YC Zhang, H Dube, MP Goel, A Farrall, M Peloso, GM Won, HH Do, R van Iperen, E Kruppa, J Mahajan, A Scott, RA Willenborg, C Braund, PS van Capelleveen, JC Doney, ASF Donnelly, LA Asselta, R Merlini, PA Duga, S Marziliano, N Denny, JC Shaffer, C El-Mokhtari, NE Franke, A Heilmann, S Hengstenberg, C Hoffmann, P Holmen, OL Hveem, K Jansson, JH Jockel, KH Kessler, T Kriebel, J Laugwitz, KL Marouli, E Martinelli, N McCarthy, MI Van Zuydam, NR Meisinger, C Esko, T Mihailov, E Escher, SA Alver, M Moebus, S Morris, AD Virtamo, J Nikpay, M Olivieri, O Provost, S AlQarawi, A Robertson, NR Akinsansya, KO Reilly, DF Vogt, TF Yin, W Asselbergs, FW Kooperberg, C Jackson, RD Stahl, E Muller-Nurasyid, M Strauch, K Varga, TV Waldenberger, M Zeng, LY Chowdhury, R Salomaa, V Ford, I Jukema, JW Amouyel, P Kontto, J Nordestgaard, BG Ferrieres, J Saleheen, D Sattar, N Surendran, P Wagner, A Young, R Howson, JMM Butterworth, AS Danesh, J Ardissino, D Bottinger, EP Erbel, R Franks, PW Girelli, D Hall, AS Hovingh, GK Kastrati, A Lieb, W Meitinger, T Kraus, WE Shah, SH McPherson, R Orho-Melander, M Melander, O Metspalu, A Palmer, CNA Peters, A Rader, DJ Reilly, MP Loos, RJF Reiner, AP Roden, DM Tardif, JC Thompson, JR Wareham, NJ Watkins, H Willer, CJ Samani, NJ Schunkert, H Deloukas, P Kathiresan, S AF Webb, Thomas R. Erdmann, Jeanette Stirrups, Kathleen E. Stitziel, Nathan O. Masca, Nicholas G. D. Jansen, Henning Kanoni, Stavroula Nelson, Christopher P. Ferrario, Paola G. Koenig, Inke R. Eicher, John D. Johnson, Andrew D. Hamby, Stephen E. Betsholtz, Christer Ruusalepp, Arno Franzen, Oscar Schadt, Eric E. Bjoerkegren, Johan L. M. Weeke, Peter E. Auer, Paul L. Schick, Ursula M. Lu, Yingchang Zhang, He Dube, Marie-Pierre Goel, Anuj Farrall, Martin Peloso, Gina M. Won, Hong-Hee Do, Ron van Iperen, Erik Kruppa, Jochen Mahajan, Anubha Scott, Robert A. Willenborg, Christina Braund, Peter S. van Capelleveen, Julian C. Doney, Alex S. F. Donnelly, Louise A. Asselta, Rosanna Merlini, Pier A. Duga, Stefano Marziliano, Nicola Denny, Josh C. Shaffer, Christian El-Mokhtari, Nour Eddine Franke, Andre Heilmann, Stefanie Hengstenberg, Christian Hoffmann, Per Holmen, Oddgeir L. Hveem, Kristian Jansson, Jan-Hakan Joeckel, Karl-Heinz Kessler, Thorsten Kriebel, Jennifer Laugwitz, Karl L. Marouli, Eirini Martinelli, Nicola McCarthy, Mark I. Van Zuydam, Natalie R. Meisinger, Christa Esko, Tonu Mihailov, Evelin Escher, Stefan A. Alver, Maris Moebus, Susanne Morris, Andrew D. Virtamo, Jarma Nikpay, Majid Olivieri, Oliviero Provost, Sylvie AlQarawi, Alaa Robertson, Neil R. Akinsansya, Karen O. Reilly, Dermot F. Vogt, Thomas F. Yin, Wu Asselbergs, Folkert W. Kooperberg, Charles Jackson, Rebecca D. Stahl, Eli Mueller-Nurasyid, Martina Strauch, Konstantin Varga, Tibor V. Waldenberger, Melanie Zeng, Lingyao Chowdhury, Rajiv Salomaa, Veikko Ford, Ian Jukema, J. Wouter Amouyel, Philippe Kontto, Jukka Nordestgaard, Borge G. Ferrieres, Jean Saleheen, Danish Sattar, Naveed Surendran, Praveen Wagner, Aline Young, Robin Howson, Joanna M. M. Butterworth, Adam S. Danesh, John Ardissino, Diego Bottinger, Erwin P. Erbel, Raimund Franks, Paul W. Girelli, Domenico Hall, Alistair S. Hovingh, G. Kees Kastrati, Adnan Lieb, Wolfgang Meitinger, Thomas Kraus, William E. Shah, Svati H. McPherson, Ruth Orho-Melander, Marju Melander, Olle Metspalu, Andres Palmer, Colin N. A. Peters, Annette Rader, Daniel J. Reilly, Muredach P. Loos, Ruth J. F. Reiner, Alex P. Roden, Dan M. Tardif, Jean-Claude Thompson, John R. Wareham, Nicholas J. Watkins, Hugh Willer, Cristen J. Samani, Nilesh J. Schunkert, Heribert Deloukas, Panos Kathiresan, Sekar CA Wellcome Trust Case Control MORGAM Investigators Myocardial Infarction Genetics TI Systematic Evaluation of Pleiotropy Identifies 6 Further Loci Associated With Coronary Artery Disease SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Article DE cholesteryl ester transfer protein; expression quantitative trait loci; genetics; genome-wide association; single nucleotide polymorphism ID GENOME-WIDE ASSOCIATION; DENSITY-LIPOPROTEIN RECEPTOR; ABDOMINAL AORTIC-ANEURYSM; HEART-DISEASE; SCAVENGER RECEPTOR; PHOSPHOLIPASE A(2); COMMON VARIANTS; CETP MASS; SR-BI; RISK AB BACKGROUND Genome-wide association studies have so far identified 56 loci associated with risk of coronary artery disease (CAD). Many CAD loci show pleiotropy; that is, they are also associated with other diseases or traits. OBJECTIVES This study sought to systematically test if genetic variants identified for non-CAD diseases/traits also associate with CAD and to undertake a comprehensive analysis of the extent of pleiotropy of all CAD loci. METHODS In discovery analyses involving 42,335 CAD cases and 78,240 control subjects we tested the association of 29,383 common (minor allele frequency >5%) single nucleotide polymorphisms available on the exome array, which included a substantial proportion of known or suspected single nucleotide polymorphisms associated with common diseases or traits as of 2011. Suggestive association signals were replicated in an additional 30,533 cases and 42,530 control subjects. To evaluate pleiotropy, we tested CAD loci for association with cardiovascular risk factors (lipid traits, blood pressure phenotypes, body mass index, diabetes, and smoking behavior), as well as with other diseases/traits through interrogation of currently available genome-wide association study catalogs. RESULTS We identified 6 new loci associated with CAD at genome-wide significance: on 2q37 (KCNJ13-GIGYF2), 6p21 (C2), 11p15 (MRVI1-CTR9), 12q13 (LRP1), 12q24 (SCARB1), and 16q13 (CETP). Risk allele frequencies ranged from 0.15 to 0.86, and odds ratio per copy of the risk allele ranged from 1.04 to 1.09. Of 62 new and known CAD loci, 24 (38.7%) showed statistical association with a traditional cardiovascular risk factor, with some showing multiple associations, and 29 (47%) showed associations at p < 1 x 10(-4) with a range of other diseases/traits. CONCLUSIONS We identified 6 loci associated with CAD at genome-wide significance. Several CAD loci show substantial pleiotropy, which may help us understand the mechanisms by which these loci affect CAD risk. (C) 2017 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation. C1 [Webb, Thomas R.; Masca, Nicholas G. D.; Nelson, Christopher P.; Hamby, Stephen E.; Braund, Peter S.; Samani, Nilesh J.] Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England. [Webb, Thomas R.; Masca, Nicholas G. D.; Nelson, Christopher P.; Hamby, Stephen E.; Braund, Peter S.; Thompson, John R.; Samani, Nilesh J.] Glenfield Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester, Leics, England. [Erdmann, Jeanette; Willenborg, Christina] Univ Lubeck, Inst Cardiogenet, Lubeck, Germany. [Erdmann, Jeanette; Ferrario, Paola G.; Koenig, Inke R.] DZHK German Res Ctr Cardiovasc Res, Lubeck, Germany. [Erdmann, Jeanette] Univ Heart Ctr Luebeck, Lubeck, Germany. 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[Akinsansya, Karen O.; Reilly, Dermot F.; Vogt, Thomas F.; Yin, Wu] Merck Sharp & Dohme Ltd, Rahway, NJ USA. [Asselbergs, Folkert W.] UMC Utrecht, Div Heart & Lungs, Dept Cardiol, Utrecht, Netherlands. [Asselbergs, Folkert W.] ICIN Netherlands Heart Inst, Durrer Ctr Cardiogenet Res, Utrecht, Netherlands. [Asselbergs, Folkert W.] UCL, Fac Populat Hlth Sci, Inst Cardiovasc Sci, London, England. [Jackson, Rebecca D.] Ohio State Univ, Dept Med, Div Endocrinol Diabet & Metab, Columbus, OH 43210 USA. [Stahl, Eli] Icahn Sch Med Mt Sinai, Dept Psychiat, New York, NY 10029 USA. [Mueller-Nurasyid, Martina; Strauch, Konstantin] Helmholtz Zentrum Munchen, German Res Ctr Environm Hlth, Inst Genet Epidemiol, Neuherberg, Germany. [Mueller-Nurasyid, Martina] Ludwig Maximilians Univ Munchen, Dept Med 1, Univ Hosp Grosshadern, Munich, Germany. [Strauch, Konstantin; Surendran, Praveen] Ludwig Maximilians Univ Munchen, Chair Genet Epidemiol, Inst Med Informat Biometry & Epidemiol, Munich, Germany. [Chowdhury, Rajiv; Young, Robin; Howson, Joanna M. M.; Butterworth, Adam S.; Danesh, John] Univ Cambridge, Dept Publ Hlth & Primary Care, MRC BHF Cardiovasc Epidemiol Unit, Cambridge, England. [Ford, Ian] Univ Glasgow, Robertson Ctr Biostat, Glasgow, Lanark, Scotland. [Jukema, J. Wouter] Leiden Univ, Med Ctr, Leiden & Interuniv Cardiol Inst Netherlands, Dept Cardiol, Utrecht, Netherlands. [Amouyel, Philippe] Univ Lille, INSERM, CHU Lille, Inst Pasteur Lille,RID AGE U1167, Lille, France. [Nordestgaard, Borge G.] Copenhagen Univ Hosp & Med Sci, Copenhagen, Denmark. [Nordestgaard, Borge G.] Univ Copenhagen, Fac Hlth & Med Sci, Copenhagen, Denmark. [Ferrieres, Jean] Toulouse Univ, Sch Med, Toulouse, France. [Saleheen, Danish] Univ Penn, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA. [Saleheen, Danish] Ctr Noncommunicable Dis, Karachi, Pakistan. [Sattar, Naveed] Univ Glasgow, Glasgow Cardiovasc Res Ctr, British Heart Fdn, Glasgow, Lanark, Scotland. 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[Kraus, William E.; Shah, Svati H.] Duke Univ, Dept Med, Div Cardiol, Durham, NC USA. [Orho-Melander, Marju] Lund Univ, Clin Res Ctr, Dept Clin Sci Malmo, Malmo, Sweden. [Melander, Olle] Lund Univ, Malmo Univ Hosp, Dept Clin Sci Diabet & Endocrinol, Malmo, Sweden. [Rader, Daniel J.] Univ Penn, Dept Genet, Cardiovasc Inst, Philadelphia, PA 19104 USA. [Rader, Daniel J.] Univ Penn, Inst Translat Med & Therapeut, Perelman Sch Med, Philadelphia, PA 19104 USA. [Reilly, Muredach P.] Columbia Univ, Dept Med, Div Cardiol, New York, NY USA. [Reilly, Muredach P.] Columbia Univ, Irving Inst Clin & Translat Res, New York, NY USA. [Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10029 USA. [Reiner, Alex P.] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA. [Roden, Dan M.] Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN 37232 USA. [Thompson, John R.] Univ Leicester, Dept Hlth Sci, Leicester, Leics, England. [Willer, Cristen J.] Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA. [Willer, Cristen J.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. [Kathiresan, Sekar] Massachusetts Gen Hosp, Div Cardiol, Boston, MA 02114 USA. RP Samani, NJ (reprint author), Univ Leicester, Dept Cardiovasc Sci, Leicester, Leics, England.; Samani, NJ (reprint author), Glenfield Hosp, NIHR Leicester Cardiovasc Biomed Res Unit, Leicester, Leics, England.; Deloukas, P (reprint author), King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence R, Jeddah, Saudi Arabia. EM njs@le.ac.uk; p.deloukas@qmul.ac.uk RI Webb, Tom/C-6237-2011; OI Dube, Marie-Pierre/0000-0001-8442-4393; Kontto, Jukka/0000-0003-3899-9852; Peters, Annette/0000-0001-6645-0985 FU Merck Sharp Dohme; Pfizer; Novo Nordisk; Eli Lilly; Servier; Sanofi-Aventis; Janssen; Roche; Boehringer-Ingelheim; Takeda; Merck; AstraZeneca; Amgen; Sanofi; Amarin; DalCor FX Dr. Vogt was an employee of Merck when aspects of this research was conducted, but is now retired from Merck. A cholesteryl ester transfer protein inhibitor, Anacetrapib ( MK-0859), is currently undergoing clinical investigation in the REVEAL outcome trial sponsored by Merck Sharp & Dohme. Dr. Schick is an employee of Recombine. Dr. Dube has equity in DalCor Pharmaceuticals. Dr. McCarthy is a member of advisory boards for Pfizer and Novo Nordisk; has received honoraria from Pfizer, Novo Nordisk, and Eli Lilly; and has received research funding provided by Pfizer, Novo Nordisk, Eli Lilly, Servier, Sanofi-Aventis, Janssen, Roche, Boehringer-Ingelheim, Takeda, Merck, and AstraZeneca. Dr. Ferrieres has received grants from Merck Sharp & Dohme, Amgen, and Sanofi. Dr. Sattar has served as a consultant for Amgen and Sanofi. Dr. Butterworth has received grants from Pfizer and Merck. Dr. Danesh has served as a consultant for Takeda; has served on the Novartis Cardiovascular & Metabolic Advisory Board and International Cardiovascular and Metabolism Research and Development Portfolio Committee of Novartis; has served on the UK Atherosclerosis Advisory Board of Merck Sharp & Dohme; has served on the advisory board of Sanofi; has served on the Pfizer Population Research Advisory Panel; and has financial relationships with the British Heart Foundation, BUPA Foundation, diaDexus, European Research Council, European Union, Evelyn Trust, Fogarty International Centre, GlaxoSmithKline, Merck, National Heart, Lung, and Blood Institute, National Health Service Blood and Transplant, National Institute for Health Research, National Institute of Neurological Disorders and Stroke, Novartis, Pfizer, Roche, Sanofi, Takeda, The Wellcome Trust, UK Biobank, University of British Columbia, and UK Medical Research Council. Dr. Tardif has received research grants from Amarin, AstraZeneca, Merck, Pfizer, Eli Lilly, Sanofi, Servier, and DalCor; has received honoraria from Pfizer (to his institution), Servier, DalCor, and Sanofi (to his institution); and has received modest equity interest from DalCor. Dr. Kathiresan has financial/ other relationships with Regeneron, Bayer, Catabasis, Merck, Celera, Genomics PLC, San Therapeutics, Novartis, Sanofi, AstraZeneca, Alnylam, Eli Lilly, Leerink Partners, and Noble Insights. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. A full list of acknowledgments and funding sources is included in the Online Appendix. Drs. Webb, Erdmann, Strirrups, Stitziel, Samani, Schunkert, Deloukas, and Kathiresan contributed equally to this work. NR 44 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD FEB 21 PY 2017 VL 69 IS 7 BP 823 EP 836 DI 10.1016/j.jacc.2016.11.056 PG 14 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EN9SR UT WOS:000396340400009 PM 28209224 ER PT J AU Lucanic, M Plummer, WT Chen, E Harke, J Foulger, AC Onken, B Coleman-Hulbert, AL Dumas, KJ Guo, SZ Johnson, E Bhaumik, D Xue, J Crist, AB Presley, MP Harinath, G Sedore, CA Chamoli, M Kamat, S Chen, MK Angeli, S Chang, C Willis, JH Edgar, D Royal, MA Chao, EA Patel, S Garrett, T Ibanez-Ventoso, C Hope, J Kish, JL Guo, M Lithgow, GJ Driscoll, M Phillips, PC AF Lucanic, Mark Plummer, W. Todd Chen, Esteban Harke, Jailynn Foulger, Anna C. Onken, Brian Coleman-Hulbert, Anna L. Dumas, Kathleen J. Guo, Suzhen Johnson, Erik Bhaumik, Dipa Xue, Jian Crist, Anna B. Presley, Michael P. Harinath, Girish Sedore, Christine A. Chamoli, Manish Kamat, Shaunak Chen, Michelle K. Angeli, Suzanne Chang, Christina Willis, John H. Edgar, Daniel Royal, Mary Anne Chao, Elizabeth A. Patel, Shobhna Garrett, Theo Ibanez-Ventoso, Carolina Hope, June Kish, Jason L. Guo, Max Lithgow, Gordon J. Driscoll, Monica Phillips, Patrick C. TI Impact of genetic background and experimental reproducibility on identifying chemical compounds with robust longevity effects SO NATURE COMMUNICATIONS LA English DT Article ID ADULT CAENORHABDITIS-ELEGANS; EXTENDS LIFE-SPAN; DIETARY RESTRICTION; STRESS RESISTANCE; C. ELEGANS; INCREASE; RESVERATROL; POPULATIONS; DROSOPHILA; ORGANISMS AB Limiting the debilitating consequences of ageing is a major medical challenge of our time. Robust pharmacological interventions that promote healthy ageing across diverse genetic backgrounds may engage conserved longevity pathways. Here we report results from the Caenorhabditis Intervention Testing Program in assessing longevity variation across 22 Caenorhabditis strains spanning 3 species, using multiple replicates collected across three independent laboratories. Reproducibility between test sites is high, whereas individual trial reproducibility is relatively low. Of ten pro-longevity chemicals tested, six significantly extend lifespan in at least one strain. Three reported dietary restriction mimetics are mainly effective across C. elegans strains, indicating species and strain-specific responses. In contrast, the amyloid dye ThioflavinT is both potent and robust across the strains. Our results highlight promising pharmacological leads and demonstrate the importance of assessing lifespans of discrete cohorts across repeat studies to capture biological variation in the search for reproducible ageing interventions. C1 [Lucanic, Mark; Plummer, W. Todd; Foulger, Anna C.; Dumas, Kathleen J.; Bhaumik, Dipa; Presley, Michael P.; Chamoli, Manish; Angeli, Suzanne; Edgar, Daniel; Chao, Elizabeth A.; Garrett, Theo; Hope, June; Kish, Jason L.; Lithgow, Gordon J.] Buck Inst Res Aging, 8001 Redwood Blvd, Novato, CA 94945 USA. [Chen, Esteban; Onken, Brian; Guo, Suzhen; Xue, Jian; Harinath, Girish; Kamat, Shaunak; Chang, Christina; Royal, Mary Anne; Patel, Shobhna; Ibanez-Ventoso, Carolina; Driscoll, Monica] Rutgers State Univ, Dept Mol Biol & Biochem, Nelson Biol Labs, Piscataway, NJ 08854 USA. [Harke, Jailynn; Coleman-Hulbert, Anna L.; Johnson, Erik; Crist, Anna B.; Sedore, Christine A.; Chen, Michelle K.; Willis, John H.; Phillips, Patrick C.] Univ Oregon, Inst Ecol & Evolut, Eugene, OR 97403 USA. [Guo, Max] NIA, Div Aging Biol, 7201 Wisconsin Ave, Bethesda, MD 20892 USA. [Harke, Jailynn] NCI, Mol Biol Lab, Bldg 37, Bethesda, MD 20892 USA. RP Lithgow, GJ (reprint author), Buck Inst Res Aging, 8001 Redwood Blvd, Novato, CA 94945 USA.; Driscoll, M (reprint author), Rutgers State Univ, Dept Mol Biol & Biochem, Nelson Biol Labs, Piscataway, NJ 08854 USA.; Phillips, PC (reprint author), Univ Oregon, Inst Ecol & Evolut, Eugene, OR 97403 USA. EM glithgow@buckinstitute.org; driscoll@dls.rutgers.edu; pphil@uoregon.edu FU NIH Office of Research Infrastructure Programs [P40 OD010440]; Larry L. Hillblom Foundation; Glenn Foundation for Medical Research; NIH grants [UL1024917, 1R01AG029631, R21AG048528, UO1AG045844, U01AG045864] FX We acknowledge all the members of the Lithgow, Driscoll and Phillips labs for helpful discussions particularly focused on detailed protocols. We also thank the CITP Advisory Committee and Ronald Kohanski (National Institute on Aging). We thank Asher Cutter, Marie-Anne Felix and Christian Braendle for providing strains that they had directly collected. Additional strains were provided by the CGC, which is funded by NIH Office of Research Infrastructure Programs (P40 OD010440). This work was supported by funding from the Larry L. Hillblom Foundation, the Glenn Foundation for Medical Research and NIH grants (UL1024917, supporting the Interdisciplinary Research Consortium on Geroscience, 1R01AG029631, R21AG048528, UO1AG045844 and U01AG045864). NR 60 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 21 PY 2017 VL 8 AR 14256 DI 10.1038/ncomms14256 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL3CY UT WOS:000394498400001 PM 28220799 ER PT J AU Ren, NSX Ji, M Tokar, EJ Busch, EL Xu, XJ Lewis, D Li, XC Jin, AW Zhang, YP Wu, WKK Huang, WC Li, LP Fargo, DC Keku, TO Sandler, RS Li, XL AF Ren, Natalie S. X. Ji, Ming Tokar, Erik J. Busch, Evan L. Xu, Xiaojiang Lewis, DeAsia Li, Xiangchun Jin, Aiwen Zhang, Yanping Wu, William K. K. Huang, Weichun Li, Leping Fargo, David C. Keku, Temitope O. Sandler, Robert S. Li, Xiaoling TI Haploinsufficiency of SIRT1 Enhances Glutamine Metabolism and Promotes Cancer Development SO CURRENT BIOLOGY LA English DT Article ID CARE OUTCOMES RESEARCH; COLORECTAL-CANCER; CELL-SURVIVAL; P53; TUMORIGENESIS; MICE; DAMAGE; HOMEOSTASIS; ACTIVATION; EXPRESSION AB SIRT1, the most conserved mammalian NAID(+)-dependent protein deacetylase, plays a vital role in the regulation of metabolism, stress responses, and genome stability. However, the role of SIRT1 in the multi-step process leading to transformation and/or tumorigenesis, as either a tumor suppressor or tumor promoter, is complex and may be dependent upon the context in which SIRT1 activity is altered, and the role of SIRT1 in tumor metabolism is unknown. Here, we demonstrate that SIRT1 dose-dependently regulates cellular glutamine metabolism and apoptosis, which in turn differentially impact cell proliferation and cancer development. Heterozygous deletion of Sirt1 induces c-Myc expression, enhancing glutamine metabolism and subsequent proliferation, autophagy, stress resistance, and cancer formation. In contrast, homozygous deletion of Sirt1 triggers cellular apoptotic pathways, increases cell death, diminishes autophagy, and reduces cancer formation. Consistent with the observed dose dependence in cells, intestine-specific Sirt1 heterozygous mice have enhanced intestinal tumor formation, whereas intestine-specific Sirt1 homozygous knockout mice have reduced development of colon cancer. Furthermore, SIRT1 reduction, but not deletion, is associated with human colorectal tumors, and colorectal cancer patients with low protein expression of SIRT1 have a poor prognosis. Taken together, our findings indicate that the dose-dependent regulation of tumor metabolism and possibly apoptosis by SIRT1 mechanistically contribute to the observed dual roles of SIRT1 in tumorigenesis. Our study highlights the importance of maintenance of a suitable SIRT1 dosage for metabolic and tissue homeostasis, which will have important implications in SIRT1-small-molecule-activator/inhibitor-based therapeutic strategies for cancers. C1 [Ren, Natalie S. X.; Ji, Ming; Lewis, DeAsia; Li, Xiaoling] NIEHS, Signal Transduct Lab, POB 12233, Res Triangle Pk, NC 27709 USA. [Tokar, Erik J.] Natl Toxicol Program, Stem Cell Toxicol Grp, Res Triangle Pk, NC 27709 USA. [Busch, Evan L.] Univ North Carolina Chapel Hill, Dept Epidemiol, Chapel Hill, NC 27599 USA. [Xu, Xiaojiang; Fargo, David C.] NIEHS, Integrat Bioinformat Branch, POB 12233, Res Triangle Pk, NC 27709 USA. [Huang, Weichun; Li, Leping] NIEHS, Biostat & Computat Biol Branch, POB 12233, Res Triangle Pk, NC 27709 USA. [Li, Xiangchun; Wu, William K. K.] Chinese Univ Hong Kong, Inst Digest Dis, Dept Anaesthesia & Intens Care, Hong Kong, Hong Kong, Peoples R China. [Li, Xiangchun; Wu, William K. K.] Chinese Univ Hong Kong, State Key Lab Digest Dis, Hong Kong, Hong Kong, Peoples R China. [Jin, Aiwen; Zhang, Yanping] Univ North Carolina Chapel Hill, Dept Radiat Oncol, Chapel Hill, NC 27599 USA. [Jin, Aiwen; Zhang, Yanping] Univ North Carolina Chapel Hill, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA. [Keku, Temitope O.; Sandler, Robert S.] Univ North Carolina Chapel Hill, Dept Med, Chapel Hill, NC 27599 USA. [Busch, Evan L.] Harvard Med Sch, Channing Div Network Med, Dept Med, Boston, MA 02115 USA. [Busch, Evan L.] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. [Busch, Evan L.] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. RP Li, XL (reprint author), NIEHS, Signal Transduct Lab, POB 12233, Res Triangle Pk, NC 27709 USA. EM lix3@niehs.nih.gov FU Intramural Research Program of National Institute of Environmental Health Sciences [Z01 ES102205]; NIH [P30DK034987, U01CA93326]; National Cancer Institute [5T32CA009001, 3P30CA016086] FX We thank Drs. Anton Jetten and Dmitry Gordenin and members of the Xiaoling Li laboratory for critical reading of the manuscript. We also thank Dr. Yi Fang and Ms. Qing Xu for technical support, Dr. E. Terence Adams from Integrated Laboratory Systems for histopathologic evaluation of colon tumors developed in mice, and Stephanie Cohen (image analysis) and Yongjuan Xia and Gabriela De la Cruz (staining) in the UNC Translational Pathology Laboratory (TPL) for expert technical assistance. This research was supported by the Intramural Research Program of National Institute of Environmental Health Sciences to Xiaoling Li (Z01 ES102205) and was also supported, in part, by extramural grants from the NIH (P30DK034987 and U01CA93326). E.L.B. was supported in part by a grant from the National Cancer Institute (5T32CA009001). The UNC TPL is supported in part by grants from the National Cancer Institute (3P30CA016086). NR 45 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0960-9822 EI 1879-0445 J9 CURR BIOL JI Curr. Biol. PD FEB 20 PY 2017 VL 27 IS 4 BP 483 EP 494 DI 10.1016/j.cub.2016.12.047 PG 12 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EL6IF UT WOS:000394724600018 PM 28162896 ER PT J AU Ferreira, MP Coghill, AE Chaves, CB Bergmann, A Thuler, LC Soares, EA Pfeiffer, RM Engels, EA Soares, MA AF Ferreira, Mariana P. Coghill, Anna E. Chaves, Claudia B. Bergmann, Anke Thuler, Luiz C. Soares, Esmeralda A. Pfeiffer, Ruth M. Engels, Eric A. Soares, Marcelo A. TI Outcomes of cervical cancer among HIV-infected and HIV-uninfected women treated at the Brazilian National Institute of Cancer SO AIDS LA English DT Article DE AIDS; cervical cancer; HIV infection; relapse; survival; treatment response ID HUMAN-IMMUNODEFICIENCY-VIRUS; UNITED-STATES; TRANSPLANT RECIPIENTS; MORTALITY; RISK; AIDS; PEOPLE AB Objective: We assessed mortality, treatment response, and relapse among HIV-infected and HIV-uninfected women with cervical cancer in Rio de Janeiro, Brazil. Design: Cohort study of 87 HIV-infected and 336 HIV-uninfected women with cervical cancer. Methods: Patients at the Brazilian National Institute of Cancer (2001-2013) were matched on age, calendar year of diagnosis, clinical stage, and tumor histology. Staging and treatment with surgery, radiotherapy, and/or chemotherapy followed international guidelines. We used a Markov model to assess responses to initial therapy, and Cox models for mortality and relapse after complete response (CR). Results: Among 234 deaths, most were from cancer (82% in HIV-infected vs. 93% in HIV-uninfected women); only 9% of HIV-infected women died from AIDS. HIV was not associated withmortality during initial follow-up but was associated more than 1-2 years after diagnosis [ overall mortality: stage-adjusted hazard ratio 2.02, 95% confidence interval (CI) 1.27-3.22; cancer-specific mortality: 4.35, 1.86-10.2]. Among 222 patients treated with radiotherapy, HIV-infected had similar response rates to initial cancer therapy as HIV-uninfected women (hazard ratio 0.98, 95% CI 0.58-1.66). However, among women who were treated and had a CR, HIV was associated with elevated risk of subsequent relapse (hazard ratio 3.60, 95% CI 1.86-6.98, adjusted for clinical stage). Conclusion: Among women with cervical cancer, HIV infection was not associated with initial treatment response or early mortality, but relapse after attaining a CR and late mortality were increased in those with HIV. These results point to a role for an intact immune system in control of residual tumor burden among treated cervical cancer patients. (C) 2017 Wolters Kluwer Health, Inc. All rights reserved. C1 [Ferreira, Mariana P.; Soares, Esmeralda A.; Soares, Marcelo A.] Inst Nacl Canc, Programa Oncovirol, Rua Andre Cavalcanti 37-40, BR-20231050 Rio De Janeiro, RJ, Brazil. [Coghill, Anna E.; Pfeiffer, Ruth M.; Engels, Eric A.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Chaves, Claudia B.] Inst Nacl Canc, Secao Ginecol Oncol, Rio De Janeiro, RJ, Brazil. [Chaves, Claudia B.; Bergmann, Anke] Inst Nacl Canc, Programa Carcinogenese Mol, Rio De Janeiro, RJ, Brazil. [Bergmann, Anke; Thuler, Luiz C.] Inst Nacl Canc, Programa Pesquisa Clin, Rio De Janeiro, RJ, Brazil. RP Soares, MA (reprint author), Inst Nacl Canc, Programa Oncovirol, Rua Andre Cavalcanti 37-40, BR-20231050 Rio De Janeiro, RJ, Brazil. EM masoares@inca.gov.br FU US-Brazil Collaborative Research Program of the US National Institutes of Health; Brazilian Ministry of Health [467874/2014-0]; Brazilian Ministry of Science and Technology [467874/2014-0]; Intramural Research Program of the US National Cancer Institute FX The study was supported by a grant under the US-Brazil Collaborative Research Program of the US National Institutes of Health and the Brazilian Ministries of Health and of Science and Technology (no. 467874/2014-0). MPF was supported through an MSc fellowship by the Brazilian Ministry of Health. C.B.C., A.B., L.C.T., E.A.S., and M.A.S. were supported by intramural resources of the Brazilian Ministry of Health. A.E.C., R.M.P., and E.A.E. were supported by the Intramural Research Program of the US National Cancer Institute. NR 23 TC 0 Z9 0 U1 1 U2 1 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0269-9370 EI 1473-5571 J9 AIDS JI Aids PD FEB 20 PY 2017 VL 31 IS 4 BP 523 EP 531 DI 10.1097/QAD.0000000000001367 PG 9 WC Immunology; Infectious Diseases; Virology SC Immunology; Infectious Diseases; Virology GA EK2JW UT WOS:000393754600011 PM 28060014 ER PT J AU Moukambi, F Rodrigues, V Fortier, Y Rabezanahary, H Borde, C Krust, B Andreani, G Silvestre, R Petrovas, C Laforge, M Estaquier, J AF Moukambi, Felicien Rodrigues, Vasco Fortier, Yasmina Rabezanahary, Henintsoa Borde, Chloe Krust, Bernard Andreani, Guadalupe Silvestre, Ricardo Petrovas, Constantinos Laforge, Mireille Estaquier, Jerome TI CD4 T Follicular Helper Cells and HIV Infection: Friends or Enemies? SO FRONTIERS IN IMMUNOLOGY LA English DT Review DE AIDS; Tfh; CD4; B cell; vaccine; pathogen; SIV; reservoir ID SIMIAN IMMUNODEFICIENCY VIRUS; CHRONIC VIRAL-INFECTION; CENTER B-CELL; AFRICAN-GREEN MONKEYS; TRANSCRIPTION FACTOR; SIV INFECTION; LYMPH-NODES; TFH CELLS; LENTIVIRAL INFECTIONS; DISEASE PROGRESSION AB Follicular T helper (Tfh) cells, a subset of CD4 T lymphocytes, are essential for memory B cell activation, survival, and differentiation and assist B cells in the production of antigen-specific antibodies. Work performed in recent years pointed out the importance of Tfh cells in the context of HIV and SIV infections. The importance of tissue distribution of Tfh is also an important point since their frequency differs between peripheral blood and lymph nodes compared to the spleen, the primary organ for B cell activation, and differentiation. Our recent observations indicated an early and profound loss of splenic Tfh cells. The role of transcriptional activator and repressor factors that control Tfh differentiation is also discussed in the context of HIV/SIV infection. Because Tfh cells are important for B cell differentiation and antibody production, accelerating the Tfh responses early during HIV/SIV infection could be promising as novel immunotherapeutic approach or alternative vaccine strategies. However, because Tfh cells are infected during the HIV/SIV infection and represent a reservoir, this may interfere with HIV vaccine strategy. Thus, Tfh represent the good and bad guys during HIV infection. C1 [Moukambi, Felicien; Rabezanahary, Henintsoa; Andreani, Guadalupe; Estaquier, Jerome] Univ Laval, Fac Med, Res Ctr, Ctr Hosp Univ CHU Quebec, Quebec City, PQ, Canada. [Rodrigues, Vasco; Fortier, Yasmina; Borde, Chloe; Krust, Bernard; Laforge, Mireille; Estaquier, Jerome] Paris Descartes Univ, Fac Med St Peres, CNRS, FR3636, Paris, France. [Silvestre, Ricardo] Univ Minho, Sch Hlth Sci, Life & Hlth Sci Res Inst ICVS, Braga, Portugal. [Silvestre, Ricardo] ICVS 3Bs PT Govt Associate Lab, Braga, Portugal. [Petrovas, Constantinos] NIAID, Tissue Anal Core, Vaccine Res Ctr, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP Estaquier, J (reprint author), Univ Laval, Fac Med, Res Ctr, Ctr Hosp Univ CHU Quebec, Quebec City, PQ, Canada.; Estaquier, J (reprint author), Paris Descartes Univ, Fac Med St Peres, CNRS, FR3636, Paris, France. EM estaquier@yahoo.fr FU Agence Nationale de Recherches sur le Sida et les Hepatites Virales (ANRS); Canadian HIV Cure Enterprise Team Grant from the Canadian Institutes of Health Research (CIHR) [HIG-13305]; CANFAR; IAS; Fondation du CHU de Quebec; ANRS; Canada Research Chair; FCT-Fundacao para a Ciencia e a Tecnologia/MEC-Ministerio da Educacao e Ciencia atraves de fundos nacionais; Fundacao para a Ciencia e a Tecnologia (FCT) [IF/00021/2014]; FEDER [4293] FX This work was supported by grants to JE from the Agence Nationale de Recherches sur le Sida et les Hepatites Virales (ANRS) and from The Canadian HIV Cure Enterprise Team Grant HIG-13305 from the Canadian Institutes of Health Research (CIHR) in partnership with CANFAR and IAS. FM is supported by a fellowship from Fondation du CHU de Quebec. CB and YF are supported by fellowships from ANRS. JE acknowledges the support of the Canada Research Chair program. RS is supported by FCT-Fundacao para a Ciencia e a Tecnologia/MEC-Ministerio da Educacao e Ciencia atraves de fundos nacionais e quando aplicavel cofinanciado pelo FEDER, no ambito do Acordo de Parceria PT2020 referente a unidade de investigacao no 4293. RS is supported by the Fundacao para a Ciencia e a Tecnologia (FCT) (IF/00021/2014). NR 108 TC 0 Z9 0 U1 3 U2 3 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1664-3224 J9 FRONT IMMUNOL JI Front. Immunol. PD FEB 20 PY 2017 VL 8 AR 135 DI 10.3389/fimmu.2017.00135 PG 8 WC Immunology SC Immunology GA EL0HN UT WOS:000394303600001 PM 28265271 ER PT J AU Nair, SG Patel, DP Sanyal, M Singhal, P Shrivastav, PS AF Nair, Sneha G. Patel, Daxesh P. Sanyal, Mallika Singhal, Puran Shrivastav, Pranav S. TI Simultaneous analysis of glucocorticosteroid fluticasone propionate and its metabolite fluticasone propionate 17 beta-carboxylic acid in human plasma by UPLC-MS/MS at sub pg/mL level SO JOURNAL OF PHARMACEUTICAL AND BIOMEDICAL ANALYSIS LA English DT Article DE Fluticasone propionate; Fluticasone propionate 17/beta-carboxylic acid; UPLC-MS/MS; Sub pg/mL; Human plasma; Nasal spray ID TANDEM MASS-SPECTROMETRY; NASAL SPRAY FORMULATIONS; LC-MS/MS; SAMPLES AB A highly sensitive and rapid ultra performance liquid chromatography-tandem mass spectrometry method has been developed for the simultaneous determination of fluticasone propionate (FP) and its major metabolite, fluticasone propionate-17beta-carboxylic acid (FP 17 beta-CA) in human plasma. The analytes and their deuterated internal standards, FP-d3 and FP 17 beta-CA-d3 were extracted from 500 mu L plasma samples by solid phase extraction on Oasis MAX cartridges. The chromatographic analysis was performed on ACQUITY UPLC BEH C18 (50mm x 2.1 mm, 1.7 mu m) column using methanol-acetonitrile (50:50, v/v) and 2.0 mM ammonium trifluroacetate (ATFA) (85:15, v/v) as the mobile phase. Following separation of the analytes, protonated precursor production transitions (FP: m/z 501.1 -> 293.2, FP17 beta-CA: m/z 453.3 -> 293.2, FP-d3: m/z 504.2 -> 293.2, FP 17 beta-CA-d3: m/z 456.3 -> 293.2) were monitored on FP 17 beta-CA a triple quadrupole mass spectrometer, operating in multiple reaction monitoring (MRM) and positive ionization mode. The calibration curves were established in the range of 0.5-100pg/mL with a correlation coefficient (r(2))>= 0.9992 for both the analytes. The intra-batch and inter-batch accuracy and precision varied from 95.5-103.4% and 0.74-5.06% across quality controls for both the analytes. The mean assay recoveries for FP and FP 17 beta-CA were 84.2% and 93.5% respectively. The validated method was successfully applied to support a bioequivalence study of 200 mu g FP, administered using nasal spray formulation in 18 healthy Indian subjects. Reproducibility of the method was assessed by reanalysis of 98 incurred study samples. (C) 2016 Elsevier B.V. All rights reserved. C1 [Nair, Sneha G.; Shrivastav, Pranav S.] Gujarat Univ, Sch Sci, Dept Chem, Ahmadabad 380009, Gujarat, India. [Patel, Daxesh P.] NCI, Lab Metab, Ctr Canc Res, Bethesda, MD 20892 USA. [Sanyal, Mallika] St Xaviers Coll, Dept Chem, Ahmadabad 380009, Gujarat, India. [Singhal, Puran] Alkem Labs Ltd, Bioanalyt Dept, Mumbai 400013, Maharashtra, India. RP Shrivastav, PS (reprint author), Gujarat Univ, Sch Sci, Dept Chem, Ahmadabad 380009, Gujarat, India. EM pranav_shrivastav@yahoo.com NR 21 TC 0 Z9 0 U1 8 U2 8 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0731-7085 EI 1873-264X J9 J PHARMACEUT BIOMED JI J. Pharm. Biomed. Anal. PD FEB 20 PY 2017 VL 135 BP 1 EP 7 DI 10.1016/j.jpba.2016.12.008 PG 7 WC Chemistry, Analytical; Pharmacology & Pharmacy SC Chemistry; Pharmacology & Pharmacy GA EJ0NB UT WOS:000392905200001 PM 27987390 ER PT J AU Groen, IIA Silson, EH Baker, CI AF Groen, Iris I. A. Silson, Edward H. Baker, Chris I. TI Contributions of low- and high-level properties to neural processing of visual scenes in the human brain SO PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES LA English DT Article DE natural scenes; functional magnetic resonance imaging; electro-encephalography; category-selectivity; retinotopy; image statistics ID PARAHIPPOCAMPAL PLACE AREA; HUMAN OCCIPITOTEMPORAL CORTEX; SELECTIVE CORTICAL REGIONS; LATERAL OCCIPITAL CORTEX; REAL-WORLD SCENES; OBJECT RECOGNITION; TIME-COURSE; IMAGE STATISTICS; DECISION-MAKING; NATURAL SCENES AB Visual scene analysis in humans has been characterized by the presence of regions in extrastriate cortex that are selectively responsive to scenes compared with objects or faces. While these regions have often been interpreted as representing high-level properties of scenes (e.g. category), they also exhibit substantial sensitivity to low-level (e.g. spatial frequency) and mid-level (e.g. spatial layout) properties, and it is unclear how these disparate findings can be united in a single framework. In this opinion piece, we suggest that this problem can be resolved by questioning the utility of the classical low- to high-level framework of visual perception for scene processing, and discuss why low-and mid-level properties may be particularly diagnostic for the behavioural goals specific to scene perception as compared to object recognition. In particular, we highlight the contributions of low-level vision to scene representation by reviewing (i) retinotopic biases and receptive field properties of scene-selective regions and (ii) the temporal dynamics of scene perception that demonstrate overlap of low-and mid-level feature representations with those of scene category. We discuss the relevance of these findings for scene perception and suggest a more expansive framework for visual scene analysis. This article is part of the themed issue 'Auditory and visual scene analysis'. C1 [Groen, Iris I. A.; Silson, Edward H.; Baker, Chris I.] NIH, Lab Brain & Cognit, 10 Ctr Dr 10-3N228, Bethesda, MD 20892 USA. RP Groen, IIA (reprint author), NIH, Lab Brain & Cognit, 10 Ctr Dr 10-3N228, Bethesda, MD 20892 USA. EM iris.groen@nih.gov OI Groen, Iris/0000-0002-5536-6128; Baker, Chris/0000-0001-6861-8964 FU National Institutes of Health [ZIA-MH-002909]; Rubicon Fellowship from Netherlands Organization for Scientific Research (NWO) FX I.I.A.G., E.H.S. and C.I.B. are supported by the Intramural Program of the National Institutes of Health (ZIA-MH-002909). I.I.A.G. is also supported by a Rubicon Fellowship from the Netherlands Organization for Scientific Research (NWO). NR 122 TC 1 Z9 1 U1 13 U2 13 PU ROYAL SOC PI LONDON PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND SN 0962-8436 EI 1471-2970 J9 PHILOS T R SOC B JI Philos. Trans. R. Soc. B-Biol. Sci. PD FEB 19 PY 2017 VL 372 IS 1714 AR 20160102 DI 10.1098/rstb.2016.0102 PG 11 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EI1AD UT WOS:000392206300003 ER PT J AU Gostic, KM Ambrose, M Worobey, M Lloyd-Smith, JO AF Gostic, Katelyn M. Ambrose, Monique Worobey, Michael Lloyd-Smith, James O. TI Maternal antibodies' role in immunity Response SO SCIENCE LA English DT Letter ID ORIGINAL ANTIGENIC SIN; INFLUENZA-VIRUSES C1 [Gostic, Katelyn M.; Ambrose, Monique; Lloyd-Smith, James O.] Univ Calif Los Angeles, Dept Ecol & Evolutionary Biol, Los Angeles, CA 90095 USA. [Worobey, Michael] Univ Arizona, Dept Ecol & Evolutionary Biol, Tucson, AZ 85721 USA. [Lloyd-Smith, James O.] NIH, Fogarty Int Ctr, Bethesda, MD 20892 USA. RP Worobey, M; Lloyd-Smith, JO (reprint author), Univ Calif Los Angeles, Dept Ecol & Evolutionary Biol, Los Angeles, CA 90095 USA.; Worobey, M (reprint author), Univ Arizona, Dept Ecol & Evolutionary Biol, Tucson, AZ 85721 USA.; Lloyd-Smith, JO (reprint author), NIH, Fogarty Int Ctr, Bethesda, MD 20892 USA. EM worobey@email.arizona.edu; jlloydsmith@ucla.edu NR 8 TC 0 Z9 0 U1 3 U2 3 PU AMER ASSOC ADVANCEMENT SCIENCE PI WASHINGTON PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA SN 0036-8075 EI 1095-9203 J9 SCIENCE JI Science PD FEB 17 PY 2017 VL 355 IS 6326 BP 705 EP 705 DI 10.1126/science.aam7389 PG 1 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EM2AC UT WOS:000395117700031 PM 28209868 ER PT J AU Dotsey, E Ushach, I Pone, E Nakajima, R Jasinskas, A Argueta, DA Dillon, A DiPatrizio, N Davies, H Zlotnik, A Crompton, PD Felgner, PL AF Dotsey, Emmanuel Ushach, Irina Pone, Egest Nakajima, Rie Jasinskas, Algis Argueta, Donovan A. Dillon, Andrea DiPatrizio, Nicholas Davies, Huw Zlotnik, Albert Crompton, Peter D. Felgner, Philip L. TI Transient Cannabinoid Receptor 2 Blockade during Immunization Heightens Intensity and Breadth of Antigen-specific Antibody Responses in Young and Aged mice SO SCIENTIFIC REPORTS LA English DT Article ID ENDOCANNABINOID SYSTEM; T-CELLS; B-CELLS; PROTEOME MICROARRAYS; IMMUNE-RESPONSES; LYMPHOID ORGANS; DENDRITIC CELLS; MARGINAL ZONE; CB2 RECEPTOR; DIFFERENTIATION AB The hallmark of vaccines is their ability to prevent the spread of infectious pathogens and thereby serve as invaluable public health tool. Despite their medical relevance, there is a gap in our understanding of the physiological factors that mediate innate and adaptive immune response to vaccines. The endocannabinoid (eCB) system is a critical modulator of homeostasis in vertebrates. Our results indicate that macrophages and dendritic cells produce the endocannabinoid, 2-arachidonoyl-sn-glycerol (2-AG) upon antigen activation. We have also established that 2-AG levels are upregulated in the serum and in the lymph node of mice during vaccination. We hypothesized that the intrinsic release of eCBs from immune cells during activation by pathogenic antigens mitigate inflammation, but also suppress overall innate and adaptive immune response. Here we demonstrate, for the first time, that transient administration of the cannabinoid receptor 2 antagonist AM630 (10 mg/kg) or inverse agonist JTE907 (3 mg/kg) during immunization heightens the intensity and breadth of antigen-specific immune responses in young and aged mice through the upregulation of immunomodulatory genes in secondary lymphoid tissues. C1 [Dotsey, Emmanuel; Ushach, Irina; Nakajima, Rie; Jasinskas, Algis; Davies, Huw; Felgner, Philip L.] Univ Calif Irvine, Dept Med, Div Infect Dis, Irvine, CA 92717 USA. [Pone, Egest] Univ Calif Irvine, Dept Pharmaceut Sci, Irvine, CA USA. [Argueta, Donovan A.; Dillon, Andrea; DiPatrizio, Nicholas] Univ Calif Riverside, Div Biomed Sci, Sch Med, Riverside, CA 92521 USA. [Zlotnik, Albert] Univ Calif Irvine, Dept Physiol & Biophys, Irvine, CA 92717 USA. [Crompton, Peter D.] NIAID, Malaria Infect Biol & Immun Unit, Immunogenet Lab, NIH, Rockville, MD USA. RP Dotsey, E (reprint author), Univ Calif Irvine, Dept Med, Div Infect Dis, Irvine, CA 92717 USA. EM edotsey@uci.edu OI Argueta, Donovan/0000-0002-8234-141X FU NIH [R01 AI095916-01A1, R01 AI095916-02S1]; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH FX This study was supported by NIH grants R01 AI095916-01A1 and R01 AI095916-02S1. PDC is supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, NIH. NR 74 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 17 PY 2017 VL 7 AR 42584 DI 10.1038/srep42584 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL0MU UT WOS:000394317300001 PM 28209996 ER PT J AU Ishikawa, K Medina, SH Schneider, JP Klar, AJS AF Ishikawa, Ken Medina, Scott H. Schneider, Joel P. Klar, Amar J. S. TI Glycan Alteration Imparts Cellular Resistance to a Membrane-Lytic Anticancer Peptide SO CELL CHEMICAL BIOLOGY LA English DT Article ID SCHIZOSACCHAROMYCES-POMBE; FISSION-YEAST; REVERSE-TRANSCRIPTASE; FILAMENTOUS GROWTH; DRUG-RESISTANCE; PROTEIN-KINASE; CANCER; GALACTOSE; IDENTIFICATION; FLOCCULATION AB Although resistance toward small-molecule chemotherapeutics has been well studied, the potential of tumor cells to avoid destruction by membrane-lytic compounds remains unexplored. Anticancer peptides (ACPs) are a class of such agents that disrupt tumor cell membranes through rapid and non-stereospecific mechanisms, encouraging the perception that cellular resistance toward ACPs is unlikely to occur. We demonstrate that eukaryotic cells can, indeed, develop resistance to the model oncolytic peptide SVS-1, which preferentially disrupts the membranes of cancer cells. Utilizing fission yeast as a model organism, we show that ACP resistance is largely controlled through the loss of cell-surface anionic saccharides. A similar mechanism was discovered in mammalian cancer cells where removal of negatively charged sialic acid residues directly transformed SVS-1-sensitive cell lines into resistant phenotypes. These results demonstrate that changes in cell-surface glycosylation play a major role in tumor cell resistance toward oncolytic peptides. C1 [Ishikawa, Ken; Klar, Amar J. S.] NCI, Gene Regulat & Chromosome Biol Lab, NIH, Frederick, MD 21702 USA. [Ishikawa, Ken; Medina, Scott H.; Schneider, Joel P.] NCI, Biol Chem Lab, NIH, Frederick, MD 21702 USA. RP Klar, AJS (reprint author), NCI, Gene Regulat & Chromosome Biol Lab, NIH, Frederick, MD 21702 USA.; Schneider, JP (reprint author), NCI, Biol Chem Lab, NIH, Frederick, MD 21702 USA. EM joel.schneider@nih.gov; klara@mail.nih.gov FU Intramural Research Program of the National Cancer Institute, NIH FX This work was supported by the Intramural Research Program of the National Cancer Institute, NIH. We thank Mike Bonaduce, Shuo Gu, Lisheng Dai, Kimberley Peifley, and Stephen Lockett for technical assistance and/ or for the use of their facilities, as well as Henry Levin for providing reagents for the yeast transposon mutagenesis procedure. Bulk quantities of the sialyltransferase inhibitor 3Fax- Peracetyl Neu5Ac was synthesized and provided by Gary Pauly. We thank Sherimay Ablan and Eric Freed for providing Jurkat cell line. We thank our colleagues Yuji Yamada, Stephen Hughes, and Jeffrey Strathern for valuable discussions. NR 30 TC 1 Z9 1 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2451-9448 J9 CELL CHEM BIOL JI Cell Chem. Biol. PD FEB 16 PY 2017 VL 24 IS 2 BP 149 EP 158 DI 10.1016/j.chembiol.2016.12.009 PG 10 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EP5NB UT WOS:000397424400009 PM 28089756 ER PT J AU Kulkarni, RA Worth, AJ Zengeya, TT Shrimp, JH Garlick, JM Roberts, AM Montgomery, DC Sourbier, C Gibbs, BK Mesaros, C Tsai, YC Das, S Chan, KC Zhou, M Andresson, T Weissman, AM Linehan, WM Blair, IA Snyder, NW Meier, JL AF Kulkarni, Rhushikesh A. Worth, Andrew J. Zengeya, Thomas T. Shrimp, Jonathan H. Garlick, Julie M. Roberts, Allison M. Montgomery, David C. Sourbier, Carole Gibbs, Benjamin K. Mesaros, Clementina Tsai, Yien Che Das, Sudipto Chan, King C. Zhou, Ming Andresson, Thorkell Weissman, Allan M. Linehan, W. Marston Blair, Ian A. Snyder, Nathaniel W. Meier, Jordan L. TI Discovering Targets of Non-enzymatic Acylation by Thioester Reactivity Profiling SO CELL CHEMICAL BIOLOGY LA English DT Article ID ACID SYNTHASE INHIBITION; COENZYME-A; HISTONE ACETYLATION; CANCER-CELLS; PROTEIN ACETYLATION; LYSINE ACETYLTRANSFERASES; CRYSTAL-STRUCTURE; CITRATE LYASE; METABOLISM; COA AB Non-enzymatic protein modification driven by thioester reactivity is thought to play a major role in the establishment of cellular lysine acylation. However, the specific protein targets of this process are largely unknown. Here we report an experimental strategy to investigate non-enzymatic acylation in cells. Specifically, we develop a chemoproteomic method that separates thioester reactivity from enzymatic utilization, allowing selective enrichment of non-enzymatic acylation targets. Applying this method to cancer cell lines identifies numerous candidate targets of nonenzymatic acylation, including several enzymes in lower glycolysis. Functional studies highlight malonyl-CoA as a reactive thioester metabolite that can modify and inhibit glycolytic enzyme activity. Finally, we show that synthetic thioesters can be used as novel reagents to probe non-enzymatic acylation in living cells. Our studies provide new insights into the targets and drivers of non-enzymatic acylation, and demonstrate the utility of reactivity-based methods to experimentally investigate this phenomenon in biology and disease. C1 [Kulkarni, Rhushikesh A.; Zengeya, Thomas T.; Shrimp, Jonathan H.; Garlick, Julie M.; Roberts, Allison M.; Montgomery, David C.; Meier, Jordan L.] NCI, Biol Chem Lab, Ctr Canc Res, NIH, Frederick, MD 21702 USA. [Worth, Andrew J.; Mesaros, Clementina; Blair, Ian A.] Univ Penn, Penn SRP Ctr, Ctr Excellence Environm Toxicol, Philadelphia, PA 19104 USA. [Sourbier, Carole; Gibbs, Benjamin K.; Linehan, W. Marston] NCI, Urol Oncol Branch, Ctr Canc Res, NIH, Bethesda, MD 20817 USA. [Tsai, Yien Che; Weissman, Allan M.] NCI, Lab Prot Dynam & Signaling, Ctr Canc Res, NIH, Frederick, MD 21702 USA. [Das, Sudipto; Chan, King C.; Zhou, Ming; Andresson, Thorkell] Leidos Biomed Res Inc, Prot Characterizat Lab, Canc Res Technol Program, Frederick Natl Lab Canc Res, Frederick, MD 21702 USA. [Snyder, Nathaniel W.] Drexel Univ, AJ Drexel Autism Inst, 3020 Market St, Philadelphia, PA 19104 USA. RP Meier, JL (reprint author), NCI, Biol Chem Lab, Ctr Canc Res, NIH, Frederick, MD 21702 USA. EM jordan.meier@nih.gov OI Tsai, Yien Che/0000-0001-9624-1092 FU Pennsylvania Department of Health CURE; NIH [K22ES26235, P30ES013508, ZIA BC011488-02]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research [ZIA BC011488-02] FX The authors thank Dr. Carissa Grose (Protein Expression Laboratory) for assisting with cloning and preparation of plasmid DNA, Dr. David Evans and Lori Bowles (Developmental Therapeutics Program) for NCI-60 cell lines, and Dr. Daniel McVicar (Cancer Inflammation Program) and Dr. Martin Schnermann (Chemical Biology Laboratory) for helpful discussions. This work was supported by a Pennsylvania Department of Health CURE grant, the NIH (K22ES26235 and P30ES013508), and the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research (ZIA BC011488-02). NR 59 TC 1 Z9 1 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2451-9448 J9 CELL CHEM BIOL JI Cell Chem. Biol. PD FEB 16 PY 2017 VL 24 IS 2 BP 231 EP 242 DI 10.1016/j.chembiol.2017.01.002 PG 12 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EP5NB UT WOS:000397424400016 PM 28163016 ER PT J AU Battistelli, C Cicchini, C Santangelo, L Tramontano, A Grassi, L Gonzalez, FJ de Nonno, V Grassi, G Amicone, L Tripodi, M AF Battistelli, C. Cicchini, C. Santangelo, L. Tramontano, A. Grassi, L. Gonzalez, F. J. de Nonno, V. Grassi, G. Amicone, L. Tripodi, M. TI The Snail repressor recruits EZH2 to specific genomic sites through the enrollment of the lncRNA HOTAIR in epithelial-to-mesenchymal transition SO ONCOGENE LA English DT Article ID LONG NONCODING RNA; NUCLEAR FACTOR 4-ALPHA; E-CADHERIN EXPRESSION; TRANSCRIPTION FACTORS; COMPLEX 2; CHROMATIN MODIFICATION; CARCINOMA PROGRESSION; MOLECULAR-MECHANISMS; EMT/MET DYNAMICS; GENE-EXPRESSION AB The transcription factor Snail is a master regulator of cellular identity and epithelial-to-mesenchymal transition (EMT) directly repressing a broad repertoire of epithelial genes. How chromatin modifiers instrumental to its activity are recruited to Snail-specific binding sites is unclear. Here we report that the long non-coding RNA (lncRNA) HOTAIR (for HOX Transcript Antisense Intergenic RNA) mediates a physical interaction between Snail and enhancer of zeste homolog 2 (EZH2), an enzymatic subunit of the polycomb-repressive complex 2 and the main writer of chromatin-repressive marks. The Snail-repressive activity, here monitored on genes with a pivotal function in epithelial and hepatic morphogenesis, differentiation and cell-type identity, depends on the formation of a tripartite Snail/HOTAIR/EZH2 complex. These results demonstrate an lncRNA-mediated mechanism by which a transcriptional factor conveys a general chromatin modifier to specific genes, thereby allowing the execution of hepatocyte transdifferentiation; moreover, they highlight HOTAIR as a crucial player in the Snail-mediated EMT. C1 [Battistelli, C.; Cicchini, C.; Santangelo, L.; de Nonno, V.; Amicone, L.; Tripodi, M.] Sapienza Univ Rome, Ist Pasteur Italia Fdn Cenci Bolognetti, Dept Cellular Biotechnol & Haematol, Sez Genet Mol, Rome, Italy. [Tramontano, A.] Sapienza Univ Rome, Ist Pasteur Italia Fdn Cenci Bolognetti, Dept Phys, Rome, Italy. [Grassi, L.] Sapienza Univ Rome, Dept Phys, Rome, Italy. [Gonzalez, F. J.] NCI, Ctr Canc Res, Lab Metab, NIH, Bethesda, MD 20892 USA. [Grassi, G.; Tripodi, M.] IRCCS, Natl Inst Infect Dis L Spallanzani, Rome, Italy. RP Cicchini, C; Tripodi, M (reprint author), Sapienza Univ Rome, Fdn Cenci Bolognetti, Ist Pasteur Italia, Dipartimento Biotecnol Cellulari & Ematol,Sez Gen, Viale Regina Elena 324, I-00161 Rome, Italy. EM cicchini@bce.uniroma1.it; tripodi@bce.uniroma1.it FU Associazione Italiana per la Ricerca sul Cancro (AIRC) [IG 14114]; Ministero della Salute; Ministero Universita e Ricerca Scientifica [PRIN 20108XYHJS]; Epigenomics Flagship Project-EPIGEN FX We thank I Bozzoni and SA Ciafre for suggestions and critical revision of the manuscript. This was supported by Associazione Italiana per la Ricerca sul Cancro (AIRC) IG 14114; Ministero della Salute; Ministero Universita e Ricerca Scientifica PRIN 20108XYHJS; Epigenomics Flagship Project-EPIGEN. NR 57 TC 1 Z9 1 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0950-9232 EI 1476-5594 J9 ONCOGENE JI Oncogene PD FEB 16 PY 2017 VL 36 IS 7 BP 942 EP 955 DI 10.1038/onc.2016.260 PG 14 WC Biochemistry & Molecular Biology; Oncology; Cell Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Oncology; Cell Biology; Genetics & Heredity GA EK8JG UT WOS:000394169100007 PM 27452518 ER PT J AU Uldrick, TS AF Uldrick, Thomas S. TI iNKT cell defects in HHV-8-associated MCD SO BLOOD LA English DT Editorial Material ID MULTICENTRIC CASTLEMAN-DISEASE; KAPOSI-SARCOMA; T-CELLS; INFECTION; AIDS AB In this issue of Blood, Sbihi et al provide the first evidence of invariant natural killer T (iNKT) cell abnormalities in patients with human herpesvirus 8 (HHV-8) -associated multicentric Castleman disease (MCD). C1 [Uldrick, Thomas S.] NCI, Bethesda, MD USA. RP Uldrick, TS (reprint author), NCI, Bethesda, MD USA. NR 9 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD FEB 16 PY 2017 VL 129 IS 7 BP 806 EP 807 DI 10.1182/blood-2016-11-751875 PG 4 WC Hematology SC Hematology GA EO9OW UT WOS:000397019000003 PM 28209751 ER PT J AU Arfelt, KN Barington, L Benned-Jensen, T Kubale, V Kovalchuk, AL Daugvilaite, V Christensen, JP Thomsen, AR Egerod, KL Bassi, MR Spiess, K Schwartz, TW Wang, HS Morse, HC Holst, PJ Rosenkilde, MM AF Arfelt, Kristine Niss Barington, Line Benned-Jensen, Tau Kubale, Valentina Kovalchuk, Alexander L. Daugvilaite, Viktorija Christensen, Jan Pravsgaard Thomsen, Allan Randrup Egerod, Kristoffer L. Bassi, Maria R. Spiess, Katja Schwartz, Thue W. Wang, Hongsheng Morse, Herbert C., III Holst, Peter J. Rosenkilde, Mette M. TI EBI2 overexpression in mice leads to B1 B-cell expansion and chronic lymphocytic leukemia-like B-cell malignancies SO BLOOD LA English DT Article ID 7-TRANSMEMBRANE RECEPTOR; CONSTITUTIVE ACTIVITY; LIGAND MODULATION; IL-10 PRODUCTION; MARGINAL ZONE; B-1 CELLS; EXPRESSION; IDENTIFICATION; MIGRATION; MOUSE AB Human and mouse chronic lymphocytic leukemia (CLL) develops from CD5(+) B cells that in mice and macaques are known to define the distinct B1a B-cell lineage. B1a cells are characterized by lack of germinal center (GC) development, and the B1a cell population is increased in mice with reduced GC formation. As a major mediator of follicular B-cell migration, the G protein-coupled receptor Epstein-Barr virus-induced gene 2 (EBI2 or GPR183) directs B-cell migration in the lymphoid follicles in response to its endogenous ligands, oxysterols. Thus, upregulation of EBI2 drives the B cells toward the extrafollicular area, whereas downregulation is essential for GC formation. We therefore speculated whether increased expression of EBI2 would lead to an expanded B1 cell subset and, ultimately, progression to CLL. Here, we demonstrate that B-cell-targeted expression of human EBI2 (hEBI2) in mice reduces GC-dependent immune responses, reduces total immunoglobulin M (igM) and igG levels, and leads to increased proliferation and upregulation of cellular oncogenes. Furthermore, hEBI2 overexpression leads to an abnormally expanded CD5(+) B1a B-cell subset (present as early as 4 days after birth), late-onset lymphoid cancer development, and premature death. These findings are highly similar to those observed in CLL patients and identify EBI2 as a promoter of B-cell malignancies. C1 [Arfelt, Kristine Niss; Barington, Line; Benned-Jensen, Tau; Kubale, Valentina; Daugvilaite, Viktorija; Egerod, Kristoffer L.; Spiess, Katja; Schwartz, Thue W.; Rosenkilde, Mette M.] Univ Copenhagen, Fac Hlth & Med Sci, Dept Neurosci & Pharmacol, Copenhagen, Denmark. [Kovalchuk, Alexander L.; Wang, Hongsheng; Morse, Herbert C., III] NIAID, Virol & Cellular Immunol Sect, Immunogenet Lab, NIH, Rockville, MD 20852 USA. [Christensen, Jan Pravsgaard; Thomsen, Allan Randrup; Bassi, Maria R.; Holst, Peter J.] Univ Copenhagen, Dept Immunol & Microbiol, Copenhagen, Denmark. [Egerod, Kristoffer L.; Schwartz, Thue W.] Univ Copenhagen, Fac Hlth & Med Sci, Novo Nordisk Fdn, Ctr Basic Metab Res, Copenhagen, Denmark. RP Holst, PJ (reprint author), CSS, Ctr Med Parasitol, Bldg 22&23,Oster Farigmagsgade 5, DK-1014 Copenhagen, Denmark.; Rosenkilde, MM (reprint author), Univ Copenhagen, Dept Neurosci & Pharmacol, Blegdamsvej 3b,Bldg 18-5, DK-2200 Copenhagen, Denmark. EM pholst@sund.ku.dk; rosenkilde@sund.ku.dk OI Daugvilaite, Viktorija /0000-0001-8786-348X FU NovoNordisk Foundation; Danish Council for Independent Research [Medical Sciences]; Lundbeck Foundation; University of Copenhagen; Aase and Einar Danielsen Foundation; A.P. Moller Foundation for Advancement of Medical Science; National Institutes of Health; National Institute of Allergy and Infectious Diseases; Slovenian Research Agency [P4-0053] FX This work was supported in part by the NovoNordisk Foundation, the Danish Council for Independent Research [Medical Sciences], the Lundbeck Foundation, the University of Copenhagen, the Aase and Einar Danielsen Foundation, the A.P. Moller Foundation for the Advancement of Medical Science (K.N.A., L.B., T.B.-J., V.K., V.D., K.S., P.J.H., and M.M.R.), and the Intramural Research Program of the National Institutes of Health, National Institute of Allergy and Infectious Diseases (A.L.K. and H.C.M.). V.K. was further supported by the Slovenian Research Agency (P4-0053). NR 48 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD FEB 16 PY 2017 VL 129 IS 7 BP 866 EP 878 DI 10.1182/blood-2016-02-697185 PG 13 WC Hematology SC Hematology GA EO9OW UT WOS:000397019000011 ER PT J AU Nelson, KB Sartwelle, TP Rouse, DJ AF Nelson, Karin B. Sartwelle, Thomas P. Rouse, Dwight J. TI Most cases of cerebral palsy are associated with antenatal events Reply SO BMJ-BRITISH MEDICAL JOURNAL LA English DT Letter C1 [Nelson, Karin B.] NINDS, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Sartwelle, Thomas P.] Deans & Lyons, Houston, TX USA. [Rouse, Dwight J.] Women & Infants Hosp Rhode Isl, Providence, RI 02908 USA. [Rouse, Dwight J.] Brown Univ, Providence, RI 02912 USA. RP Nelson, KB (reprint author), NINDS, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. EM nelsonk@ninds.nih.gov NR 6 TC 0 Z9 0 U1 0 U2 0 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 1756-1833 J9 BMJ-BRIT MED J JI BMJ-British Medical Journal PD FEB 16 PY 2017 VL 356 AR j835 DI 10.1136/bmj.j835 PG 1 WC Medicine, General & Internal SC General & Internal Medicine GA EL4GN UT WOS:000394579800008 PM 28209563 ER PT J AU Smargon, AA Cox, DBT Pyzocha, NK Zheng, KJ Slaymaker, IM Gootenberg, JS Abudayyeh, OA Essletzbichler, P Shmakov, S Makarova, KS Koonin, EV Zhang, F AF Smargon, Aaron A. Cox, David B. T. Pyzocha, Neena K. Zheng, Kaijie Slaymaker, Ian M. Gootenberg, Jonathan S. Abudayyeh, Omar A. Essletzbichler, Patrick Shmakov, Sergey Makarova, Kira S. Koonin, Eugene V. Zhang, Feng TI Cas13b Is a Type VI-B CRISPR-Associated RNA-Guided RNase Differentially Regulated by Accessory Proteins Csx27 and Csx28 SO MOLECULAR CELL LA English DT Article ID BINDING PROTEINS; THERMUS-THERMOPHILUS; PYROCOCCUS-FURIOSUS; COMPLEX; SYSTEMS; PREDICTION; IDENTIFICATION; TRANSCRIPTOME; ALIGNMENT; IMMUNITY AB CRISPR-Cas adaptive immune systems defend microbes against foreign nucleic acids via RNA-guided endonucleases. Using a computational sequence database mining approach, we identify two class 2 CRISPR-Cas systems (subtype VI-B) that lack Cas1 and Cas2 and encompass a single large effector protein, Cas13b, along with one of two previously uncharacterized associated proteins, Csx27 and Csx28. We establish that these CRISPR-Cas systems can achieve RNA interference when heterologously expressed. Through a combination of biochemical and genetic experiments, we show that Cas13b processes its own CRISPR array with short and long direct repeats, cleaves target RNA, and exhibits collateral RNase activity. Using an E. coli essential gene screen, we demonstrate that Cas13b has a double-sided protospacer-flanking sequence and elucidate RNA secondary structure requirements for targeting. We also find that Csx27 represses, whereas Csx28 enhances, Cas13b-mediated RNA interference. Characterization of these CRISPR systems creates opportunities to develop tools to manipulate and monitor cellular transcripts. C1 [Smargon, Aaron A.; Cox, David B. T.; Pyzocha, Neena K.; Zheng, Kaijie; Slaymaker, Ian M.; Gootenberg, Jonathan S.; Abudayyeh, Omar A.; Essletzbichler, Patrick; Zhang, Feng] Broad Inst MIT & Harvard, Cambridge, MA 02142 USA. [Smargon, Aaron A.; Cox, David B. T.; Pyzocha, Neena K.; Zheng, Kaijie; Slaymaker, Ian M.; Gootenberg, Jonathan S.; Abudayyeh, Omar A.; Essletzbichler, Patrick; Zhang, Feng] MIT, McGovern Inst Brain Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Smargon, Aaron A.; Cox, David B. T.; Pyzocha, Neena K.; Zheng, Kaijie; Slaymaker, Ian M.; Gootenberg, Jonathan S.; Abudayyeh, Omar A.; Essletzbichler, Patrick; Zhang, Feng] MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA. [Smargon, Aaron A.; Cox, David B. T.; Pyzocha, Neena K.; Zheng, Kaijie; Slaymaker, Ian M.; Gootenberg, Jonathan S.; Abudayyeh, Omar A.; Essletzbichler, Patrick; Zhang, Feng] MIT, Dept Biol Engn, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Smargon, Aaron A.; Zhang, Feng] MIT, Dept Elect Engn & Comp Sci, Cambridge, MA 02139 USA. [Cox, David B. T.; Abudayyeh, Omar A.] Harvard Med Sch, Harvard MIT Div Hlth Sci & Technol, Boston, MA 02115 USA. [Cox, David B. T.; Pyzocha, Neena K.] MIT, Dept Biol, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Gootenberg, Jonathan S.] Harvard Med Sch, Dept Syst Biol, Boston, MA 02115 USA. [Shmakov, Sergey] Skolkovo Inst Sci & Technol, Skolkovo 143025, Russia. [Shmakov, Sergey; Makarova, Kira S.; Koonin, Eugene V.] NIH, Natl Ctr Biotechnol Informat, Natl Lib Med, Bethesda, MD 20894 USA. RP Zhang, F (reprint author), Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.; Zhang, F (reprint author), MIT, McGovern Inst Brain Res, 77 Massachusetts Ave, Cambridge, MA 02139 USA.; Zhang, F (reprint author), MIT, Dept Brain & Cognit Sci, E25-618, Cambridge, MA 02139 USA.; Zhang, F (reprint author), MIT, Dept Biol Engn, 77 Massachusetts Ave, Cambridge, MA 02139 USA.; Zhang, F (reprint author), MIT, Dept Elect Engn & Comp Sci, Cambridge, MA 02139 USA. EM zhang@broadinstitute.org OI Essletzbichler, Patrick/0000-0003-2237-0005 FU National Institute of General Medical Sciences [T32GM007753]; Simons Center for the Social Brain; D.O.E. Computational Science Graduate Fellowship; Paul and Daisy Soros Fellowship; Friends of the McGovern Institute Fellowship; Poitras Center for Affective Disorders; U.S. Department of Health and Human services; Skoltech-MIT Next Generation Program grant; NIH through NIMH [5DP1-MH100706, 1R01-MH110049]; NSF; New York Stem Cell Foundation; Allen Distinguished Investigator Program, through The Paul G. Allen Frontiers Group; Simons Foundation; Vallee Foundation; Howard Hughes Medical Institute; Skoltech-MIT Next Generation Program; James and Patricia Poitras and the Poitras Center for Affective Disorders; Robert Metcalfe FX We would like to thank R. Belliveau for overall research support, R. Macrae for critical reading of the manuscript, and the entire Zhang laboratory for support and advice. D.B.T.C. is supported by award number T32GM007753 from the National Institute of General Medical Sciences. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institute of General Medical Sciences or the NIH. I.M.S. is supported by the Simons Center for the Social Brain. J.S.G. is supported by a D.O.E. Computational Science Graduate Fellowship. O.A.A. is supported by a Paul and Daisy Soros Fellowship, a Friends of the McGovern Institute Fellowship, and the Poitras Center for Affective Disorders. K.S.M., E.V.K., and S.S. are supported by the intramural program of the U.S. Department of Health and Human services (to the National Library of Medicine). S.S. is also supported by a Skoltech-MIT Next Generation Program grant (to K. Severinov and F.Z.). F.Z. is supported by the NIH through NIMH (5DP1-MH100706 and 1R01-MH110049); NSF; the New York Stem Cell Foundation; the Allen Distinguished Investigator Program, through The Paul G. Allen Frontiers Group; the Simons and Vallee Foundations; the Howard Hughes Medical Institute; the Skoltech-MIT Next Generation Program; James and Patricia Poitras and the Poitras Center for Affective Disorders; Robert Metcalfe; and David Cheng. F.Z. is a New York Stem Cell Foundation-Robertson Investigator. A patent application has been filed related to this work, and the authors plan to make the reagents widely available to the academic community through Addgene and to provide protocols and software tools via the Zhang lab website (http://www.genome-engineering.org) and GitHub (https://www.github.com/fengzhanglab). NR 40 TC 1 Z9 1 U1 5 U2 5 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1097-2765 EI 1097-4164 J9 MOL CELL JI Mol. Cell PD FEB 16 PY 2017 VL 65 IS 4 BP 618 EP + DI 10.1016/j.molcel.2016.12.023 PG 20 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EO1BB UT WOS:000396431500006 PM 28065598 ER PT J AU Younge, N Goldstein, RF Bann, CM Hintz, SR Patel, RM Smith, PB Bell, EF Rysavy, MA Duncan, AF Vohr, BR Das, A Goldberg, RN Higgins, RD Cotten, CM AF Younge, Noelle Goldstein, Ricki F. Bann, Carla M. Hintz, Susan R. Patel, Ravi M. Smith, P. Brian Bell, Edward F. Rysavy, Matthew A. Duncan, Andrea F. Vohr, Betty R. Das, Abhik Goldberg, Ronald N. Higgins, Rosemary D. Cotten, C. Michael CA Eunice Kennedy Shriver Natl Inst C Human Dev Neonatal Res Network TI Survival and Neurodevelopmental Outcomes among Periviable Infants SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Article ID BIRTH-WEIGHT INFANTS; EXTREMELY PRETERM INFANTS; ACTIVE PERINATAL-CARE; WEEKS GESTATIONAL-AGE; BAYLEY-III; NATIONAL INSTITUTE; CHILDREN BORN; SCHOOL-AGE; MORTALITY; MORBIDITY AB BACKGROUND Data reported during the past 5 years indicate that rates of survival have increased among infants born at the borderline of viability, but less is known about how increased rates of survival among these infants relate to early childhood neurodevelopmental outcomes. METHODS We compared survival and neurodevelopmental outcomes among infants born at 22 to 24 weeks of gestation, as assessed at 18 to 22 months of corrected age, across three consecutive birth-year epochs ( 2000-2003 [ epoch 1], 2004-2007 [ epoch 2], and 20082011 [ epoch 3]). The infants were born at 11 centers that participated in the National Institute of Child Health and Human Development Neonatal Research Network. The primary outcome measure was a three-level outcome - survival without neurodevelopmental impairment, survival with neurodevelopmental impairment, or death. After accounting for differences in infant characteristics, including birth center, we used multinomial generalized logit models to compare the relative risk of survival without neurodevelopmental impairment, survival with neurodevelopmental impairment, and death. RESULTS Data on the primary outcome were available for 4274 of 4458 infants ( 96%) born at the 11 centers. The percentage of infants who survived increased from 30% ( 424 of 1391 infants) in epoch 1 to 36% ( 487 of 1348 infants) in epoch 3 ( P<0.001). The percentage of infants who survived without neurodevelopmental impairment increased from 16% ( 217 of 1391) in epoch 1 to 20% ( 276 of 1348) in epoch 3 (P = 0.001), whereas the percentage of infants who survived with neurodevelopmental impairment did not change significantly ( 15% [ 207 of 1391] in epoch 1 and 16% [ 211 of 1348] in epoch 3, P = 0.29). After adjustment for changes in the baseline characteristics of the infants over time, both the rate of survival with neurodevelopmental impairment as compared with death) and the rate of survival without neurodevelopmental impairment ( as compared with death) increased over time ( adjusted relative risks, 1.27 [95% confidence interval {CI}, 1.01 to 1.59] and 1.59 [ 95% CI, 1.28 to 1.99], respectively). CONCLUSIONS The rate of survival without neurodevelopmental impairment increased between 2000 and 2011 in this large cohort of periviable infants. ( Funded by the National Institutes of Health and others; ClinicalTrials.gov numbers, NCT00063063 and NCT00009633.) C1 [Younge, Noelle; Goldstein, Ricki F.; Smith, P. Brian; Goldberg, Ronald N.; Cotten, C. Michael] Duke Univ, Dept Pediat, DUMC Box 2739, Durham, NC 27710 USA. [Bann, Carla M.; Das, Abhik] RTI Int, Stat & Epidemiol Unit, Res Triangle Pk, NC USA. [Hintz, Susan R.] Stanford Univ, Sch Med, Dept Pediat, Palo Alto, CA 94304 USA. [Hintz, Susan R.] Lucile Packard Childrens Hosp, Palo Alto, CA USA. [Patel, Ravi M.] Emory Univ, Sch Med, Dept Pediat, Atlanta, GA USA. [Patel, Ravi M.] Childrens Healthcare Atlanta, Atlanta, GA USA. [Bell, Edward F.; Rysavy, Matthew A.] Univ Iowa, Dept Pediat, Iowa City, IA 52242 USA. [Rysavy, Matthew A.] Univ Wisconsin, Dept Pediat, Madison, WI USA. [Duncan, Andrea F.] Univ Texas Houston, Sch Med, Dept Pediat, Houston, TX USA. [Vohr, Betty R.] Brown Univ, Women & Infants Hosp, Dept Pediat, Providence, RI 02908 USA. [Higgins, Rosemary D.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD USA. RP Younge, N (reprint author), Duke Univ, Dept Pediat, DUMC Box 2739, Durham, NC 27710 USA. EM noelle.younge@duke.edu FU National Institutes of Health [5T32HD043728-10, HD060558-05, 4K12HD043494-14]; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Center for Advancing Translational Sciences for the Neonatal Research Network's Generic Database and Follow-up Studies [U10 HD27904, U10 HD21364, M01 RR80, U10 HD68284, U10 HD27853, M01 RR8084, U10 HD40492, M01 RR30, U10 HD27851, M01 RR39, U10 HD27856, M01 RR750, U10 HD68278, U10 HD36790, U10 HD27880, M01 RR70, UL1 TR93, U10 HD53119, M01 RR54]; [U10 HD68244]; [U10 HD68263]; [U10 HD40521]; [UL1 RR24160]; [M01 RR44]; [UL1 TR42]; [U10 HD21415]; [U10 HD21373]; [U10 HD40689]; [M01 RR633]; [U10 HD53124]; [M01 RR64]; [UL1 TR105]; [U10 HD40498]; [M01 RR7122]; [U10 HD21385]; [U10 HD27871]; [UL1 RR24139]; [M01 RR125]; [UL1 TR142]; [M01 RR59]; [U10 HD21397]; [M01 RR16587]; [U10 HD27881]; [U10 HD53089]; [M01 RR997]; [U10 HD34216]; [M01 RR32]; [U10 HD68270]; [U10 HD40461]; [U10 HD53109] FX Supported by grants from the National Institutes of Health ( including grants 5T32HD043728-10, HD060558-05, and 4K12HD043494-14 to Dr. Younge) and from the Eunice Kennedy Shriver National Institute of Child Health and Human Development, grants from the National Center for Research Resources, and cooperative agreements from the National Center for Advancing Translational Sciences for the Neonatal Research Network's Generic Database and Follow-up Studies (U10 HD27904, U10 HD21364, M01 RR80, U10 HD68284, U10 HD27853, M01 RR8084, U10 HD40492, M01 RR30, U10 HD27851, M01 RR39, U10 HD27856, M01 RR750, U10 HD68278, U10 HD36790, U10 HD27880, M01 RR70, UL1 TR93, U10 HD53119, M01 RR54, U10 HD34216, M01 RR32, U10 HD68270, U10 HD40461, U10 HD53109, M01 RR59, U10 HD21397, M01 RR16587, U10 HD27881, U10 HD53089, M01 RR997, U10 HD68244, U10 HD68263, U10 HD40521, UL1 RR24160, M01 RR44, UL1 TR42, U10 HD21415, U10 HD21373, U10 HD40689, M01 RR633, U10 HD53124, M01 RR64, UL1 TR105, U10 HD40498, M01 RR7122, U10 HD21385, U10 HD27871, UL1 RR24139, M01 RR125, and UL1 TR142). NR 39 TC 1 Z9 1 U1 3 U2 3 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD FEB 16 PY 2017 VL 376 IS 7 BP 617 EP 628 DI 10.1056/NEJMoa1605566 PG 12 WC Medicine, General & Internal SC General & Internal Medicine GA EO0QJ UT WOS:000396402700013 PM 28199816 ER PT J AU Davey, RT Nordwall, J Proschan, MA AF Davey, Richard T., Jr. Nordwall, Jacquie Proschan, Michael A. CA Prevail II Study Team TI Trial of ZMapp for Ebola Virus Infection REPLY SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Letter C1 [Davey, Richard T., Jr.; Proschan, Michael A.] NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Nordwall, Jacquie] Univ Minnesota, Minneapolis, MN USA. RP Davey, RT (reprint author), NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. EM rdavey@niaid.nih.gov NR 3 TC 0 Z9 0 U1 0 U2 0 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD FEB 16 PY 2017 VL 376 IS 7 BP 700 EP 701 PG 3 WC Medicine, General & Internal SC General & Internal Medicine GA EO0QJ UT WOS:000396402700026 PM 28199801 ER PT J AU Rosenberg, SA Tran, E Robbins, PF AF Rosenberg, Steven A. Tran, Eric Robbins, Paul F. TI T-Cell Transfer Therapy Targeting Mutant KRAS REPLY SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Letter C1 [Rosenberg, Steven A.; Tran, Eric; Robbins, Paul F.] NCI, Bethesda, MD 20892 USA. RP Rosenberg, SA (reprint author), NCI, Bethesda, MD 20892 USA. EM sar@nih.gov NR 5 TC 0 Z9 0 U1 0 U2 0 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD FEB 16 PY 2017 VL 376 IS 7 PG 2 WC Medicine, General & Internal SC General & Internal Medicine GA EO0QJ UT WOS:000396402700004 ER PT J AU Gaksch, M Jorde, R Grimnes, G Joakimsen, R Schirmer, H Wilsgaard, T Mathiesen, EB Njolstad, I Lochen, ML Marz, W Kleber, ME Tomaschitz, A Grubler, M Eiriksdottir, G Gudmundsson, EF Harris, TB Cotch, MF Aspelund, T Gudnason, V Rutters, F Beulens, JWJ van't Riet, E Nijpels, G Dekker, JM Grove-Laugesen, D Rejnmark, L Busch, MA Mensink, GBM Scheidt-Nave, C Thamm, M Swart, KMA Brouwer, IA Lips, P van Schoor, NM Sempos, CT Durazo-Arvizu, RA Skrabakova, Z Dowling, KG Cashman, KD Kiely, M Pilz, S AF Gaksch, Martin Jorde, Rolf Grimnes, Guri Joakimsen, Ragnar Schirmer, Henrik Wilsgaard, Tom Mathiesen, Ellisiv B. Njolstad, Inger Lochen, Maja-Lisa Maerz, Winfried Kleber, Marcus E. Tomaschitz, Andreas Gruebler, Martin Eiriksdottir, Gudny Gudmundsson, Elias F. Harris, Tamara B. Cotch, Mary F. Aspelund, Thor Gudnason, Vilmundur Rutters, Femke Beulens, Joline W. J. van't Riet, Esther Nijpels, Giel Dekker, Jacqueline M. Grove-Laugesen, Diana Rejnmark, Lars Busch, Markus A. Mensink, Gert B. M. Scheidt-Nave, Christa Thamm, Michael Swart, Karin M. A. Brouwer, Ingeborg A. Lips, Paul van Schoor, Natasja M. Sempos, Christopher T. Durazo-Arvizu, Ramon A. Skrabakova, Zuzana Dowling, Kirsten G. Cashman, Kevin D. Kiely, Mairead Pilz, Stefan TI Vitamin D and mortality: Individual participant data meta-analysis of standardized 25-hydroxyvitamin D in 26916 individuals from a European consortium SO PLOS ONE LA English DT Article ID ALL-CAUSE MORTALITY; DOSE-RESPONSE DATA; D DEFICIENCY; D TRIALS; HEALTH; OUTCOMES; CANCER; PREVENTION; DISEASE; COHORT AB Background Vitamin D deficiency may be a risk factor for mortality but previous meta-analyses lacked standardization of laboratory methods for 25-hydroxyvitamin D (25[OH]D) concentrations and used aggregate data instead of individual participant data (IPD). We therefore performed an IPD meta-analysis on the association between standardized serum 25(OH)D and mortality. Methods In a European consortium of eight prospective studies, including seven general population cohorts, we used the Vitamin D Standardization Program (VDSP) protocols to standardize 25(OH)D data. Meta-analyses using a one step procedure on IPD were performed to study associations of 25(OH)D with all-cause mortality as the primary outcome, and with cardiovascular and cancer mortality as secondary outcomes. This meta-analysis is registered at ClinicalTrials.gov, number NCT02438488. Findings We analysed 26916 study participants (median age 61.6 years, 58% females) with a median 25(OH) D concentration of 53.8 nmol/L. During a median follow-up time of 10.5 years, 6802 persons died. Compared to participants with 25(OH)D concentrations of 75 to 99.99 nmol/L, the adjusted hazard ratios (with 95% confidence interval) for mortality in the 25(OH)D groups with 40 to 49.99, 30 to 39.99, and <30 nmol/L were 1.15 (1.00 +/- 1.29), 1.33 (1.16 +/- 1.51), and 1.67 (1.44 +/- 1.89), respectively. We observed similar results for cardiovascular mortality, but there was no significant linear association between 25(OH)D and cancer mortality. There was also no significantly increased mortality risk at high 25(OH)D levels up to 125 nmol/L. Interpretation In the first IPD meta-analysis using standardized measurements of 25(OH)D we observed an association between low 25(OH)D and increased risk of all-cause mortality. It is of public health interest to evaluate whether treatment of vitamin D deficiency prevents premature deaths. C1 [Gaksch, Martin; Gruebler, Martin; Pilz, Stefan] Med Univ Graz, Div Endocrinol & Diabetol, Dept Internal Med, Graz, Austria. [Jorde, Rolf; Grimnes, Guri; Joakimsen, Ragnar; Mathiesen, Ellisiv B.] Univ Tromso, Dept Clin Med, Tromso Endocrine Res Grp, Tromso, Norway. [Schirmer, Henrik] UiT Arctic Univ Norway, Dept Clin Med, Tromso Cardiovasc Res Grp UNN, Tromso, Norway. [Wilsgaard, Tom; Njolstad, Inger; Lochen, Maja-Lisa] UiT Arctic Univ Norway, Dept Community Med, Tromso, Norway. [Maerz, Winfried; Kleber, Marcus E.] Heidelberg Univ, Mannheim Inst Publ Hlth Social & Prevent Med, Mannheim Med Fac, Mannheim, Germany. [Maerz, Winfried] Synlab Acad, Mannheim, Germany. [Maerz, Winfried] Med Univ Graz, Clin Inst Med & Chem Lab Diagnost, Graz, Austria. [Kleber, Marcus E.] Univ Ulm, Med Ctr, Dept Internal Med Cardiol 2, Ulm, Germany. [Tomaschitz, Andreas; Gruebler, Martin] Med Univ Graz, Dept Cardiol, Graz, Austria. [Tomaschitz, Andreas] Specialist Clin Rehabil Bad Aussee, Bad Aussee, Austria. [Tomaschitz, Andreas] Charite, Campus Virchow Klinikum, Dept Internal Med Cardiol, Berlin, Germany. [Gruebler, Martin] Univ Hosp Bern, Dept Cardiol, Swiss Cardiovasc Ctr Bern, Bern, Switzerland. [Eiriksdottir, Gudny; Gudmundsson, Elias F.; Aspelund, Thor; Gudnason, Vilmundur] Iceland Heart Assoc, Kopavogur, Iceland. [Harris, Tamara B.] NIA, Lab Epidemiol & Populat Sci, Bethesda, MD 20892 USA. [Cotch, Mary F.] NEI, Div Epidemiol & Clin Applicat, Bethesda, MD 20892 USA. [Aspelund, Thor; Gudnason, Vilmundur] Univ Iceland, Fac Med, Sch Hlth Sci, Reykjavik, Iceland. [Rutters, Femke; Beulens, Joline W. J.; van't Riet, Esther; Nijpels, Giel; Dekker, Jacqueline M.; Swart, Karin M. A.; van Schoor, Natasja M.; Pilz, Stefan] Vrije Univ Amsterdam Med Ctr, Dept Epidemiol & Biostat, Amsterdam, Netherlands. [Rutters, Femke; Beulens, Joline W. J.; van't Riet, Esther; Nijpels, Giel; Dekker, Jacqueline M.; Swart, Karin M. A.; van Schoor, Natasja M.; Pilz, Stefan] Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands. [Beulens, Joline W. J.; Pilz, Stefan] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands. [Grove-Laugesen, Diana; Rejnmark, Lars] Aarhus Univ Hosp, Dept Endocrinol & Internal Med, Aarhus, Denmark. [Busch, Markus A.; Mensink, Gert B. M.; Scheidt-Nave, Christa; Thamm, Michael] Robert Koch Inst, Dept Epidemiol & Hlth Monitoring, Berlin, Germany. [Brouwer, Ingeborg A.] Vrije Univ Amsterdam, Dept Hlth Sci, Amsterdam, Netherlands. [Brouwer, Ingeborg A.] Vrije Univ Amsterdam, EMGO Inst Hlth & Care Res, Fac Earth & Life Sci, Amsterdam, Netherlands. [Lips, Paul] Vrije Univ Amsterdam Med Ctr, Dept Internal Med, Endocrine Sect, Amsterdam, Netherlands. [Sempos, Christopher T.] NIH, Off Dietary Supplements, Bldg 10, Bethesda, MD 20892 USA. [Durazo-Arvizu, Ramon A.] Loyola Univ, Med Ctr, Dept Prevent Med & Epidemiol, 2160 S 1st Ave, Maywood, IL 60153 USA. [Skrabakova, Zuzana; Dowling, Kirsten G.; Cashman, Kevin D.; Kiely, Mairead] Univ Coll Cork, Cork Ctr Vitamin D & Nutr Res, Sch Food & Nutr Sci, Cork, Ireland. [Cashman, Kevin D.] Univ Coll Cork, Dept Med, Cork, Ireland. [Kiely, Mairead] Univ Coll Cork, Irish Ctr Fetal & Neonatal Translat Res INFANT, Cork, Ireland. RP Pilz, S (reprint author), Med Univ Graz, Div Endocrinol & Diabetol, Dept Internal Med, Graz, Austria.; Pilz, S (reprint author), Vrije Univ Amsterdam Med Ctr, EMGO Inst Hlth & Care Res, Amsterdam, Netherlands.; Pilz, S (reprint author), Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, Utrecht, Netherlands. EM stefan.pilz@chello.at FU European Community [613977] FX This project has received funding from the European Community's Seventh Framework Programme (FP7/2007-2013) under Grant Agreement 613977 for the ODIN Integrated Project [Food-based solutions for optimal vitamin D nutrition and health through the life cycle http://www.odin-vitd.eu/]. Funding for the individual studies contributing data to this effort can be found in Appendix (S1File), section 11. NR 40 TC 0 Z9 0 U1 2 U2 2 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 16 PY 2017 VL 12 IS 2 AR e0170791 DI 10.1371/journal.pone.0170791 PG 15 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL2BG UT WOS:000394424500013 PM 28207791 ER PT J AU Luo, ZP Dauter, Z AF Luo, Zhipu Dauter, Zbigniew TI Embarras de richesses - It is not good to be too anomalous: Accurate structure of selenourea, a chiral crystal of planar molecules SO PLOS ONE LA English DT Article ID DIFFRACTION AB Selenourea, SeC(NH2)(2), recently found an application as a derivatization reagent providing a significant anomalous diffraction signal used for phasing macromolecular crystal structures. The crystal structure of selenourea itself was solved about 50 years ago, from data recorded on films and evaluated by eye and refined to R= 0.15 with errors of bond lengths and angles about 0.1 angstrom and 6 degrees. In the current work this structure is re-evaluated on the basis of synchrotron data and refined to R1 = 0.021 with bond and angle errors about 0.007 angstrom and 0.5. The nine planar molecules of selenourea pack either in the P3(1) or in the P3(2) unit cell. All unique molecules are connected by a complex network of Se center dot center dot center dot H-N hydrogen bonds and Se center dot center dot center dot Se contacts. The packing of selenourea molecules is highly pseudosymmetric, approximating either of the P3(1(2))12, R3, and R32 space groups. Because the overwhelming majority of diffracted X-ray intensity originates form the anomalously scattering selenium atoms, the measurable anomalous Bijvoet differences are diminished and it was not possible to solve this crystal structure based on the anomalous signal alone. C1 [Luo, Zhipu; Dauter, Zbigniew] NCI, Synchrotron Radiat Res Sect, Argonne Natl Lab, Argonne, IL 60439 USA. RP Dauter, Z (reprint author), NCI, Synchrotron Radiat Res Sect, Argonne Natl Lab, Argonne, IL 60439 USA. EM dauter@anl.gov FU Intramural Research Program of the National Cancer Institute FX This work was supported by the Intramural Research Program of the National Cancer Institute. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 18 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 16 PY 2017 VL 12 IS 2 AR e0171740 DI 10.1371/journal.pone.0171740 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EL2BG UT WOS:000394424500049 PM 28207770 ER PT J AU Deziel, NC Nuckols, JR Jones, RR Graubard, BI De Roos, AJ Pronk, A Gourley, C Colt, JS Ward, MH AF Deziel, Nicole C. Nuckols, John R. Jones, Rena R. Graubard, Barry I. De Roos, Anneclaire J. Pronk, Anjoeka Gourley, Chris Colt, Joanne S. Ward, Mary H. TI Comparison of industrial emissions and carpet dust concentrations of polychlorinated dibenzo-p-dioxins and polychlorinated dibenzofurans in a multi-center US study SO SCIENCE OF THE TOTAL ENVIRONMENT LA English DT Article DE Dioxins; Furans; Geographic information systems; Dust; Air pollution; Environmental exposure; Non-Hodgkin lymphoma (NHL) ID SOLID-WASTE INCINERATOR; IN-HOUSE DUST; NON-HODGKINS-LYMPHOMA; PERSISTENT ORGANIC POLLUTANTS; HUMAN EXPOSURE; ATTIC DUST; UNITED-STATES; TREATMENT-PLANT; SERUM-LEVELS; PCBS AB Proximity to facilities emitting polychlorinated dibenzo-p-dioxins and polychlorinated dibenzofurans (PCDD/F) has been associated with increased risk of non-Hodgkin lymphoma (NHL). There is limited information about whether proximity to industrial sources leads to indoor PCDD/F contamination of homes. We measured carpet dust concentrations (pg/g) of 17 toxic PCDD/F congeners and calculated their toxic equivalence (TEQ) in 100 homes in a population-based case-control study of NHL in Detroit, Los Angeles, Seattle, and Iowa (1998-2000). We took global positioning system readings at residences and obtained coordinates and PCDD/F emissions (ng TEQ/yr) from an Environmental Protection Agency database for 6 facility types: coal-fired electricity generating plants, cement kilns burning non-hazardous waste, hazardous waste incinerators, medical waste incinerators, municipal solid waste incinerators, and sewage sludge incinerators. For each residence, we computed an inverse distance-squared weighted average emission index (AEI [pg TEQ/km(2)/yr]) for all facilities within 5 km from 1983 to 2000. We also computed AEIs for each of the 6 facility types. We evaluated relationships between PCDD/F dust concentrations and the all-facility AEI or categories of facility-type AEIs using multivariable linear regression, adjusting for study center, demographics, and home characteristics. A doubling of the all-facility AEI was associated with a 4-8% increase in PCDD/F dust concentrations of 7 of 17 PCDD/F congeners and the TEQ (p-value < 0.1). We also observed positive associations between PCDD/F dust concentrations and facility-type AEIs (highest vs. lowest exposure category) for municipal solid Waste incinerators (9 PCDD/F, TEQ), and medical waste incinerators (7 PCDD/F, TEQ) (p < 0.1). Our results from diverse geographical areas suggest that industrial PCDD/F emission sources contribute to residential PCDD/F dust concentrations. Our emissions index could be improved by incorporating local meteorological data and terrain characteristics. Future research is needed to better understand the links between nearby emission sources, human exposure pathways, and health risks. (C) 2016 Elsevier B.V. All rights reserved. C1 [Deziel, Nicole C.] Yale Sch Publ Hlth, Dept Environm Hlth Sci, 60 Coll St, New Haven, CT 06510 USA. [Deziel, Nicole C.; Jones, Rena R.; Graubard, Barry I.; Colt, Joanne S.; Ward, Mary H.] NCI, Div Canc Epidemiol & Genet, Dept Hlth & Human Serv, 9609 Med Ctr Dr, Rockville, MD 20850 USA. [Nuckols, John R.] Colorado State Univ, Dept Environm Hlth Sci, 1681 Campus Delivery, Ft Collins, CO 80523 USA. [Nuckols, John R.] JRN Environm Hlth Sci Ltd, 10916 Wickshire Way, North Bethesda, MD 20852 USA. [De Roos, Anneclaire J.] Drexel Univ, Dornsife Sch Publ Hlth, Dept Environm & Occupat Hlth, 3215 Market S1, Philadelphia, PA 19104 USA. [Pronk, Anjoeka] TNO, Zeist, Netherlands. [Gourley, Chris] Southwest Res Inst, 6220 Culebra Rd, San Antonio, TX 78238 USA. RP Deziel, NC (reprint author), Yale Sch Publ Hlth, Dept Environm Hlth Sci, 60 Coll St, New Haven, CT 06510 USA. EM nicole.deziel@yale.edu FU Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health; NCI-Iowa SEER [N01-CN-67008]; NCI-Los Angeles County SEER [N01-CN-67010]; NCI-Seattle SEER [N01-PC-67009]; NCI-Detroit SEER [N01-PC-65064]; Colorado State University FX This study was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute (NCI), National Institutes of Health; NCI-Iowa SEER contract N01-CN-67008; NCI-Los Angeles County SEER contract N01-CN-67010; NCI-Seattle SEER contract N01-PC-67009; and NCI-Detroit SEER contract N01-PC-65064. John Nuckols was supported, in part, through an intergovernmental personnel and Colorado State University. NR 76 TC 0 Z9 0 U1 1 U2 1 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0048-9697 EI 1879-1026 J9 SCI TOTAL ENVIRON JI Sci. Total Environ. PD FEB 15 PY 2017 VL 580 BP 1276 EP 1286 DI 10.1016/j.scitotenv.2016.12.090 PG 11 WC Environmental Sciences SC Environmental Sciences & Ecology GA EM5LS UT WOS:000395353600125 PM 28017415 ER PT J AU Shiels, MS Althoff, KN Pfeiffer, RM Achenbach, CJ Abraham, AG Castilho, J Cescon, A D'Souza, G Dubrow, R Eron, JJ Gebo, K Gill, MJ Goedert, JJ Grover, S Hessol, NA Justice, A Kitahata, M Mayor, A Moore, RD Napravnik, S Novak, RM Thorne, JE Silverberg, MJ Engels, EA AF Shiels, Meredith S. Althoff, Keri N. Pfeiffer, Ruth M. Achenbach, Chad J. Abraham, Alison G. Castilho, Jessica Cescon, Angela D'Souza, Gypsyamber Dubrow, Robert Eron, Joseph J. Gebo, Kelly Gill, M. John Goedert, James J. Grover, Surbhi Hessol, Nancy A. Justice, Amy Kitahata, Mari Mayor, Angel Moore, Richard D. Napravnik, Sonia Novak, Richard M. Thorne, Jennifer E. Silverberg, Michael J. Engels, Eric A. CA North American AIDS Cohort Collabo TI HIV Infection, Immunosuppression, and Age at Diagnosis of Non-AIDS-Defining Cancers SO CLINICAL INFECTIOUS DISEASES LA English DT Article DE HIV; cancer; immunosuppression; AIDS; aging ID HUMAN-IMMUNODEFICIENCY-VIRUS; TRANSPLANT RECIPIENTS; UNITED-STATES; LUNG-CANCER; RISK-FACTORS; INDIVIDUALS; CARCINOMA; COHORT; METAANALYSIS; POPULATION AB Background. It is unclear whether immunosuppression leads to younger ages at cancer diagnosis among people living with human immunodeficiency virus (PLWH). A previous study found that most cancers are not diagnosed at a younger age in people with AIDS, with the exception of anal and lung cancers. This study extends prior work to include all PLWH and examines associations between AIDS, CD4 count, and age at cancer diagnosis. Methods. We compared the median age at cancer diagnosis between PLWH in the North American AIDS Cohort Collaboration on Research and Design and the general population using data from the Surveillance, Epidemiology and End Results Program. We used statistical weights to adjust for population differences. We also compared median age at cancer diagnosis by AIDS status and CD4 count. Results. After adjusting for population differences, younger ages at diagnosis (P <.05) were observed for PLWH compared with the general population for lung (difference in medians = 4 years), anal (difference = 4), oral cavity/ pharynx (difference = 2), and kidney cancers (difference = 2) and myeloma (difference = 4). Among PLWH, having an AIDS- defining event was associated with a younger age at myeloma diagnosis (difference = 4; P =.01), and CD4 count < 200 cells/mu L (vs >= 500) was associated with a younger age at lung cancer diagnosis (difference = 4; P =.006). Conclusions. Among PLWH, most cancers are not diagnosed at younger ages. However, this study strengthens evidence that lung cancer, anal cancer, and myeloma are diagnosed at modestly younger ages, and also shows younger ages at diagnosis of oral cavity/ pharynx and kidney cancers, possibly reflecting accelerated cancer progression, etiologic heterogeneity, or risk factor exposure in PLWH. C1 [Shiels, Meredith S.; Pfeiffer, Ruth M.] Natl Canc Inst, Div Canc Epidemiol & Genet, Rockville, MD USA. [Althoff, Keri N.; Abraham, Alison G.; D'Souza, Gypsyamber] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Epidemiol, Baltimore, MD USA. [Achenbach, Chad J.] Northwestern Univ, Feinberg Sch Med, Ctr Global hlth, Dept Med Div Infectious Dis, Chicago, IL 60208 USA. [Abraham, Alison G.] Johns Hopkins Sch Med, Dept Ophthalmol, Baltimore, MD USA. [Castilho, Jessica] Vanderbilt Univ Sch Med, Div Infectious Dis, Nashville, TN USA. [Cescon, Angela] Northern Ontario Sch Med, Sudbury, ON, Canada. [Dubrow, Robert] Yale Sch Publ Hlth, Dept Epidemiol, New Haven, CT USA. [Eron, Joseph J.] Univ N Carolina, Dept Med, Chapel Hill, NC USA. [Gebo, Kelly] Johns Hopkins Sch Med, Dept Med, Baltimore, MD USA. [Gill, M. John] Univ Calgary, Dept Med, Calgary, AB T2N 1N4, Canada. [Grover, Surbhi] Univ Penn, Dept Radiat Oncol, Philadelphia, PA 19104 USA. [Hessol, Nancy A.] Univ Calif San Francisco, Sch Pharm, San Francisco, CA 94143 USA. [Justice, Amy] Yale Sch Med, Dept Med, New Haven, CT USA. [Kitahata, Mari] Univ Washington, Ctr AIDS Res, Seattle, WA 98195 USA. [Mayor, Angel] Univ Cent Caribe, Sch Med, Bayamon, PR USA. [Novak, Richard M.] Univ Illinois, Coll Med, Div Infectious Dis, Chicago, IL 60680 USA. [Silverberg, Michael J.] Kaiser Permanente Northern California, Div Res, Oakland, CA USA. RP Shiels, MS (reprint author), NCI, NIH, 9609 Med Ctr Dr,Rm 6F-218 MSC 9767, Bethesda, MD 20892 USA. EM shielsms@mail.nih.gov FU ICMJE FX All authors certify no potential conflicts of interest. The authors have submitted the ICMJE Form for Disclosure of Potential Conflicts of Interest. Conflicts that the editors consider relevant to the content of the manuscript have been disclosed. NR 31 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD FEB 15 PY 2017 VL 64 IS 4 BP 468 EP 475 DI 10.1093/cid/ciw764 PG 8 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA EP3SB UT WOS:000397300900019 ER PT J AU Kadri, SS O'Grady, NP AF Kadri, Sameer S. O'Grady, Naomi P. TI How Will We Pay for the New Infectious Diseases/Critical Care Medicine Subspecialty? Reply SO CLINICAL INFECTIOUS DISEASES LA English DT Letter C1 [Kadri, Sameer S.; O'Grady, Naomi P.] NIH, Dept Crit Care Med, Ctr Clin, 10 Ctr Dr,Bldg 10,2C-145, Bethesda, MD 20892 USA. RP Kadri, SS (reprint author), NIH, Dept Crit Care Med, Ctr Clin, 10 Ctr Dr,Bldg 10,2C-145, Bethesda, MD 20892 USA. EM sameer.kadri@nih.gov NR 2 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD FEB 15 PY 2017 VL 64 IS 4 BP 531 EP 531 DI 10.1093/cid/ciw790 PG 1 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA EP3SB UT WOS:000397300900035 ER PT J AU Holt, MP Punkosdy, GA Glass, DD Shevach, EM AF Holt, Michael P. Punkosdy, George A. Glass, Deborah D. Shevach, Ethan M. TI TCR Signaling and CD28/CTLA-4 Signaling Cooperatively Modulate T Regulatory Cell Homeostasis SO JOURNAL OF IMMUNOLOGY LA English DT Article ID MULTIORGAN TISSUE DESTRUCTION; IN-VIVO; STEADY-STATE; CTLA-4; ACTIVATION; SELF; MICE; CD28; IL-2; CD4 AB Foxp3(+) T regulatory cells (Tregs), conventional CD4(+)Foxp3(-) T cells, and CD8(+) T cells represent heterogeneous populations composed of naive phenotype (NP, CD44(low)) and memory phenotype (MP, CD44(high)) subpopulations. NP and MP subsets differ in their activation state, contribution to immune function, and capacity to proliferate in vivo. To further understand the factors that contribute to the differential homeostasis of NP/MP subsets, we examined the differential effects of CD28 and CTLA-4 interaction with CD80/CD86, as well as MHC class II-TCR interaction within mouse Treg pools and CD4(+) and CD8(+) T cell pools. Blockade of CD80/CD86 with CTLA-4-Ig markedly reduced the cycling and absolute numbers of MP Tregs and MP CD4(+) T cells, with minimal effect on the NP T cell subpopulations. Blockade of MHC class II-TCR interaction led to selective expansion of MP Tregs and MP CD4(+) and CD8(+) T cells that was reversed upon cotreatment with CTLA-4-Ig. Treatment with anti-CTLA-4 mAb altered MP Treg and MP CD4(+) and CD8(+) T cell homeostasis in a manner similar to that observed with anti-MHC class II. We postulate a complex pathway in which CD28 is the primary driver of Treg proliferation and CTLA-4 functions as the main brake but is likely dependent on TCR signals and CD80/CD86. These findings have important implications for the use of biologic agents targeting such pathways to modulate autoimmune and neoplastic disease. C1 [Holt, Michael P.; Glass, Deborah D.; Shevach, Ethan M.] NIAID, Immunol Lab, NIH, Bldg 10,Room 11N315,10 Ctr Dr,MSC 1892, Bethesda, MD 20892 USA. [Punkosdy, George A.] Emory Univ, Sch Med, Emory Vaccine Ctr, Atlanta, GA 30322 USA. [Punkosdy, George A.] Emory Univ, Sch Med, Dept Microbiol & Immunol, Atlanta, GA 30322 USA. RP Shevach, EM (reprint author), NIAID, Immunol Lab, NIH, Bldg 10,Room 11N315,10 Ctr Dr,MSC 1892, Bethesda, MD 20892 USA. EM eshevach@niaid.nih.gov FU Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health FX This work was supported by funds from the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. NR 53 TC 1 Z9 1 U1 1 U2 1 PU AMER ASSOC IMMUNOLOGISTS PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814 USA SN 0022-1767 EI 1550-6606 J9 J IMMUNOL JI J. Immunol. PD FEB 15 PY 2017 VL 198 IS 4 BP 1503 EP 1511 DI 10.4049/jimmunol.1601670 PG 9 WC Immunology SC Immunology GA EN3HC UT WOS:000395898600014 PM 28053234 ER PT J AU Del Brutto, OH Nash, TE White, AC Rajshekhar, V Wilkins, PP Singh, G Vasquez, CM Salgado, P Gilman, RH Garcia, HH AF Del Brutto, O. H. Nash, T. E. White, A. C., Jr. Rajshekhar, V. Wilkins, P. P. Singh, G. Vasquez, C. M. Salgado, P. Gilman, R. H. Garcia, H. H. TI Revised set of diagnostic criteria for neurocysticercosis (in reply to Garg and Malhotra) SO JOURNAL OF THE NEUROLOGICAL SCIENCES LA English DT Letter DE Cysticercosis; Neurocysticercosis; Diagnostic criteria C1 [Del Brutto, O. H.] Univ Espiritu Santo Ecuador, Sch Med, Guayaquil, Ecuador. [Nash, T. E.] NIAID, Parasit Dis Lab, NIH, Bethesda, MD 20892 USA. [White, A. C., Jr.] Univ Texas Med Branch, Dept Internal Med, Div Infect Dis, Galveston, TX 77555 USA. [Rajshekhar, V.] Christian Med Coll & Hosp, Dept Neurol Sci, Vellore, Tamil Nadu, India. [Wilkins, P. P.] Parasitol Serv, Marathon, FL USA. [Singh, G.] Dayanand Med Coll, Dept Neurol, Ludhiana, Punjab, India. [Vasquez, C. M.] Inst Nacl Ciencias Neurol, Dept Neurosurg, Lima, Peru. [Salgado, P.] Natl Inst Neurol & Neurosurg, Neuroimaging Unit, Mexico City, DF, Mexico. [Gilman, R. H.] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Int Hlth, Baltimore, MD USA. [Garcia, H. H.] Univ Peruana Cayetano Heredia, Sch Sci, Ctr Global Hlth Tumbes, Lima, Peru. [Garcia, H. H.] Univ Peruana Cayetano Heredia, Sch Sci, Dept Microbiol, Lima, Peru. RP Del Brutto, OH (reprint author), Air Ctr 3542,POB 522970, Miami, FL 33152 USA. EM oscardelbrutto@hotmail.com NR 9 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE BV PI AMSTERDAM PA PO BOX 211, 1000 AE AMSTERDAM, NETHERLANDS SN 0022-510X EI 1878-5883 J9 J NEUROL SCI JI J. Neurol. Sci. PD FEB 15 PY 2017 VL 373 BP 350 EP 351 DI 10.1016/j.jns.2016.12.018 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EK8US UT WOS:000394200700081 PM 28011076 ER PT J AU Ha, S Mendola, P AF Ha, Sandie Mendola, Pauline TI Invited Commentary: Ambient Environment and the Risk of Preterm Birth SO AMERICAN JOURNAL OF EPIDEMIOLOGY LA English DT Editorial Material DE air pollution; meteorology; preterm birth; temperature ID AIR-POLLUTION; RESIDENTIAL-MOBILITY; PREGNANCY OUTCOMES; EVENTS AB Preterm birth is a common adverse birth outcome known to be associated with increased infant mortality, and it often results in a higher burden of offspring morbidity in both the short and long terms. The potential for environmental factors, particularly air pollution and meteorological parameters, to increase preterm birth risk has received significant attention worldwide, but the findings are generally inconsistent, with variations in study designs and methods across populations and geographic locations. In the current issue of the Journal, GiorgisAllemand et al. (Am J Epidemiol. 2017; 185(4):247-258) take the field a step further than most prior investigations of the ambient environment. They examined the associations of ambient air pollution and meteorological factors with preterm risk among 13 cohorts across 11 European countries. No association with air pollution was observed, but associations with increased preterm birth risk were found for both increased atmospheric pressure and ambient temperature exposures during the first trimester. The study is notable in attempting to address several important issues that challenge the field, including exposure misclassification and defining critical windows of exposure. Their comprehensive evaluation of ambient exposures is to be commended. C1 [Ha, Sandie; Mendola, Pauline] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, 6710B Rockledge Dr Room 3119, Bethesda, MD 20817 USA. RP Mendola, P (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, 6710B Rockledge Dr Room 3119, Bethesda, MD 20817 USA. EM pauline.mendola@nih.gov FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development FX This work was supported in part by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. NR 16 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9262 EI 1476-6256 J9 AM J EPIDEMIOL JI Am. J. Epidemiol. PD FEB 15 PY 2017 VL 185 IS 4 BP 259 EP 261 DI 10.1093/aje/kww138 PG 3 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EP2WU UT WOS:000397245100002 ER PT J AU Power, RA Tansey, KE Buttenschon, HN Cohen-Woods, S Bigdeli, T Hall, LS Kutalik, Z Lee, SH Ripke, S Steinberg, S Teumer, A Viktorin, A Wray, NR Arolt, V Baune, BT Boomsma, DI Borglum, AD Byrne, EM Castelao, E Craddock, N Craig, IW Dannlowski, U Deary, IJ Degenhardt, F Forstner, AJ Gordon, SD Grabe, HJ Grove, J Hamilton, SP Hayward, C Heath, AC Hocking, LJ Homuth, G Hottenga, JJ Kloiber, S Krogh, J Landen, M Lang, MR Levinson, DF Lichtenstein, P Lucae, S MacIntyre, DJ Madden, P Magnusson, PKE Martin, NG McIntosh, AM Middeldorp, CM Milaneschi, Y Montgomery, GW Mors, O Muller-Myhsok, B Nyholt, DR Oskarsson, H Owen, MJ Padmanabhan, S Penninx, BWJH Pergadia, ML Porteous, DJ Potash, JB Preisig, M Rivera, M Shi, JX Shyn, SI Sigurdsson, E Smit, JH Smith, BH Stefansson, H Stefansson, K Strohmaier, J Sullivan, PF Thomson, P Thorgeirsson, TE Van der Auwera, S Weissman, MM Breen, G Lewis, CM AF Power, Robert A. Tansey, Katherine E. Buttenschon, Henriette Normolle Cohen-Woods, Sarah Bigdeli, Tim Hall, Lynsey S. Kutalik, Zoltn Lee, S. Hong Ripke, Stephan Steinberg, Stacy Teumer, Alexander Viktorin, Alexander Wray, Naomi R. Arolt, Volker Baune, Bernard T. Boomsma, Dorret I. Borglum, Anders D. Byrne, Enda M. Castelao, Enrique Craddock, Nick Craig, Ian W. Dannlowski, Udo Deary, Ian J. Degenhardt, Franziska Forstner, Andreas J. Gordon, Scott D. Grabe, Hans J. Grove, Jakob Hamilton, Steven P. Hayward, Caroline Heath, Andrew C. Hocking, Lynne J. Homuth, Georg Hottenga, Jouke J. Kloiber, Stefan Krogh, Jesper Landen, Mikael Lang, Maren Levinson, Douglas F. Lichtenstein, Paul Lucae, Susanne MacIntyre, Donald J. Madden, Pamela Magnusson, Patrik K. E. Martin, Nicholas G. McIntosh, Andrew M. Middeldorp, Christel M. Milaneschi, Yuri Montgomery, Grant W. Mors, Ole Muller-Myhsok, Bertram Nyholt, Dale R. Oskarsson, Hogni Owen, Michael J. Padmanabhan, Sandosh Penninx, Brenda W. J. H. Pergadia, Michele L. Porteous, David J. Potash, James B. Preisig, Martin Rivera, Margarita Shi, Jianxin Shyn, Stanley I. Sigurdsson, Engilbert Smit, Johannes H. Smith, Blair H. Stefansson, Hreinn Stefansson, Kari Strohmaier, Jana Sullivan, Patrick F. Thomson, Pippa Thorgeirsson, Thorgeir E. Van der Auwera, Sandra Weissman, Myrna M. Breen, Gerome Lewis, Cathryn M. CA CONVERGE Consortium CARDIoGRAM Consortium GERAD1 Consortium TI Genome-wide Association for Major Depression Through Age at Onset Stratification: Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium SO BIOLOGICAL PSYCHIATRY LA English DT Article DE Age at onset; GWAS; Heterogeneity; Major depressive disorder; Polygenic scoring; Stratification ID HAN CHINESE WOMEN; FAMILY-HISTORY; RECURRENT DEPRESSION; ALZHEIMERS-DISEASE; FOLLOW-UP; TWIN; METAANALYSIS; POPULATION; MORTALITY; RISK AB BACKGROUND: Major depressive disorder (MDD) is a disabling mood disorder, and despite a known heritable component, a large meta-analysis of genome-wide association studies revealed no replicable genetic risk variants. Given prior evidence of heterogeneity by age at onset in MDD, we tested whether genome-wide significant risk variants for MDD could be identified in cases subdivided by age at onset. METHODS: Discovery case-control genome-wide association studies were performed where cases were stratified using increasing/decreasing age-at-onset cutoffs; significant single nucleotide polymorphisms were tested in nine independent replication samples, giving a total sample of 22,158 cases and 133,749 control subjects for subsetting. Polygenic score analysis was used to examine whether differences in shared genetic risk exists between earlier and adult-onset MDD with commonly comorbid disorders of schizophrenia, bipolar disorder, Alzheimer's disease, and coronary artery disease. RESULTS: We identified one replicated genome-wide significant locus associated with adult-onset (>27 years) MDD (rs7647854, odds ratio: 1.16, 95% confidence interval: 1.11-1.21, p = 5.2 x 10(-11)). Using polygenic score analyses, we show that earlier-onset MDD is genetically more similar to schizophrenia and bipolar disorder than adult-onset MDD. CONCLUSIONS: We demonstrate that using additional phenotype data previously collected by genetic studies to tackle phenotypic heterogeneity in MDD can successfully lead to the discovery of genetic risk factor despite reduced sample size. Furthermore, our results suggest that the genetic susceptibility to MDD differs between adult-and earlier-onset MDD, with earlier-onset cases having a greater genetic overlap with schizophrenia and bipolar disorder. C1 [Power, Robert A.; Craig, Ian W.; Rivera, Margarita; Breen, Gerome; Lewis, Cathryn M.] Kings Coll London, Inst Psychiat Psychol & Neurosci, London, England. [Tansey, Katherine E.; Craddock, Nick; Owen, Michael J.] Cardiff Univ, Sch Med, Inst Psychol Med & Clin Neurosci, Med Res Council,Ctr Neuropsychiatr Genet & Genom, Cardiff, S Glam, Wales. [Buttenschon, Henriette Normolle; Grove, Jakob; Mors, Ole] Aarhus Univ, Dept Clin Med, Translat Neuropsychiatry Unit HNB, Initiat Integrat Psychiat Res,iPSYCH, Aarhus, Denmark. [Cohen-Woods, Sarah; Baune, Bernard T.] Univ Adelaide, Sch Med, Discipline Psychiat, Adelaide, SA, Australia. [Bigdeli, Tim] Virginia Commonwealth Univ, Virginia Inst Psychiat & Behav Genet, Dept Psychiat, Richmond, VA USA. [Kutalik, Zoltn] Univ Vaudois, Ctr Hosp, Inst Social & Prevent Med, Lausanne, Switzerland. [Lee, S. Hong; Wray, Naomi R.; Byrne, Enda M.] Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia. [Lee, S. Hong] Univ New England, Sch Environm & Rural Sci, Armidale, NSW, Australia. [Ripke, Stephan] Massachusetts Inst Technol & Harvard, Broad Inst, Stanley Ctr Psychiat Res, Cambridge, MA USA. [Ripke, Stephan] Massachusetts Gen Hosp, Analyt & Translational Genet Unit, Boston, MA 02114 USA. [Ripke, Stephan] Harvard Med Sch, Boston, MA 02114 USA. [Ripke, Stephan] Charite, Dept Psychiat & Psychotherapy, Berlin, Germany. [Steinberg, Stacy; Stefansson, Hreinn; Stefansson, Kari; Thorgeirsson, Thorgeir E.] deCODE Genet, Reykjavik, Iceland. [Teumer, Alexander] Univ Med Greifswald, Inst Community Med, Greifswald, Germany. [Viktorin, Alexander; Landen, Mikael; Lichtenstein, Paul; Magnusson, Patrik K. E.; Sullivan, Patrick F.] Karolinska Inst, Dept Med Epidemiol & Biostatist, Stockholm, Sweden. [Arolt, Volker; Dannlowski, Udo] Univ Munster, Dept Psychiat & Psychotherapy, Munster, Germany. [Boomsma, Dorret I.; Hottenga, Jouke J.; Middeldorp, Christel M.] Vrije Univ, Inst Hlth & Care Res & Neurosci Campus Amsterdam, EMGO, Amsterdam, Netherlands. [Hottenga, Jouke J.; Middeldorp, Christel M.] Aarhus Univ, ISEQ, Dept Biomed, Aarhus, Denmark. [Grove, Jakob] Aarhus Univ, ISEQ, Ctr Integrat Sequencing, Aarhus, Denmark. [Dannlowski, Udo] Univ Lausanne Hosp, Lausanne, Switzerland. [Dannlowski, Udo] Univ Marburg, Dept Psychiat, Marburg, Germany. [Deary, Ian J.; McIntosh, Andrew M.; Thomson, Pippa] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh, Midlothian, Scotland. [Deary, Ian J.] Univ Edinburgh, Dept Psychol, Edinburgh, Midlothian, Scotland. [Degenhardt, Franziska; Forstner, Andreas J.] Univ Bonn, Life & Brain Ctr, Dept Genom, Inst Human Genet, Bonn, Germany. [Gordon, Scott D.; Martin, Nicholas G.; Montgomery, Grant W.] QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia. [Grabe, Hans J.; Van der Auwera, Sandra] Univ Med Greifswald, Dept Psychiat & Psychotherapy, Greifswald, Germany. [Hamilton, Steven P.] Univ Edinburgh, Kaiser Permanente San Francisco Med Ctr, Dept Psychiat, San Francisco, CA USA. [Hayward, Caroline; MacIntyre, Donald J.; Thomson, Pippa] Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Med Genet Sect, Edinburgh, Midlothian, Scotland. [Heath, Andrew C.; Madden, Pamela] Washington Univ St Louis, Dept Psychiat, St Louis, MO USA. [Hocking, Lynne J.] Univ Aberdeen, Div Appl Hlth Sci, Aberdeen, Scotland. [Homuth, Georg] Ernst Moritz Arndt Univ Greifswald, Interfaculty Inst Genet & Funct Genom, Greifswald, Germany. [Kloiber, Stefan; Lucae, Susanne; Muller-Myhsok, Bertram] Max Planck Inst Psychiat, Munich, Germany. [Krogh, Jesper] Univ Copenhagen, Mental Hlth Serv Capital Reg, Mental Hlth Ctr Copenhagen, Copenhagen, Denmark. [Lang, Maren] Univ Gothenburg, Inst Neuroscience & Physiol, Gothenburg, Sweden. [Lang, Maren; Shi, Jianxin] Heidelberg Univ, Fac Med, Cent Inst Mental Hlth, Dept Genet Epidemiol Psychiat, Mannheim, Germany. [Levinson, Douglas F.] Stanford Univ, Dept Psychiat & Behav Sci, Stanford, CA USA. [Milaneschi, Yuri; Penninx, Brenda W. J. H.; Smit, Johannes H.] Vrije Univ Med Ctr, EMGO Inst Hlth & Care Res & Neuro Sci Campus Amst, Dept Psychiat, Amsterdam, Netherlands. [Mors, Ole] Aarhus Univ Hosp, Psychosis Res Unit, Risskov, Denmark. [Muller-Myhsok, Bertram] Munich Cluster Syst Neurol, Munich, Germany. [Muller-Myhsok, Bertram] Univ Liverpool, Inst Translat Med, Liverpool, Merseyside, England. [Nyholt, Dale R.] Queensland Univ Technol, Inst Hlth & Biomed Innovat, Brisbane, Qld, Australia. [Oskarsson, Hogni] Therapeia, Reykjavik, Iceland. [Padmanabhan, Sandosh] Univ Glasgow, Inst Cardiovasc & Med Sci, Glasgow, Lanark, Scotland. [Pergadia, Michele L.] Florida Atlant Univ, Charles E Schmidt Coll Med, Boca Raton, FL USA. [Potash, James B.] Univ Iowa, Dept Psychiat, Coll Med, Iowa City, IA USA. [Rivera, Margarita] Univ Granada, Ctr Invest Biomed Red Salud Mental, Granada, Spain. [Rivera, Margarita] Univ Granada, Hospit Univ Granada, Inst Invest Biosanitaria ibs, Granada, Spain. [Shi, Jianxin] Natl Canc Inst, Div Canc Epidemiol & Genet, NIH, Bethesda, MD USA. [Shyn, Stanley I.] Grp Hlth, Dept Psychiat, Seattle, WA USA. [Sigurdsson, Engilbert] Univ Iceland, Fac Med, Reykjavik, Iceland. [Sigurdsson, Engilbert] Landspitali Univ Hosp, Dept Psychiat, Reykjavik, Iceland. [Smith, Blair H.] Univ Dundee, Div Populat Hlth Sci, Dundee, Scotland. [Sullivan, Patrick F.] Univ N Carolina, Dept Genet, Chapel Hill, NC USA. [Weissman, Myrna M.] Columbia Univ, Coll Physicians & Surg, New York, NY USA. [Weissman, Myrna M.] Columbia Univ, Mailman Sch Publ Hlth, New York, NY USA. [Weissman, Myrna M.] New York State Psychiat Inst & Hosp, New York, NY USA. RP Lewis, CM (reprint author), Kings Coll London, Inst Psychiat Psychol & Neurosci, London, England. EM cathryn.lewis@kcl.ac.uk OI Thorgeirsson, Thorgeir/0000-0002-5149-7040; McIntosh, Andrew/0000-0002-0198-4588 FU National Institute of Mental Health (NIMH) [MH085520, MH080403]; SURFsara; Netherlands Scientific Organization [NWO 480-05-003]; department of Psychology; Dutch Brain Foundation; German Federal Ministry of Education and Research (BMBF) through the Integrated Genome Research Network Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia [01GS08144, 01GS08147]; National Genome Research Network plus, and through the Integrated Network Integrated Understanding of Causes and Mechanisms in Mental Disorders; e:Med Programme [01ZX1314A, 01ZX1314G]; German Research Foundation (DFG) [FOR2107, RI908/11-1, NO246/10-1]; NIMH R01 [MH061686, MH059542, MH075131, MH059552, MH059541, MH060912]; BMBF Program Molecular Diagnostics: Validation of Biomarkers for Diagnosis and Outcome in Major Depression [01ES0811]; Bavarian Ministry of Commerce; BMBF in the framework of the National Genome Research [NGFN2, NGFN-Plus, FKZ 01GS0481, 01GS08145]; Netherlands Organization for Scientific Research (MagW/ZonMW) [904-61-090, 985-10-002, 904-61-193, 480-04004, 400-05-717, 912-100-20]; Spinozapremie [56-464-14192]; Geestkracht program [10-000-1002]; Center for Medical Systems Biology (NWO Genomics); Biobanking and Biomolecular Resources Research Infrastructure; Vrije Universiteit's Institutes for Health and Care Research and Neuroscience Campus Amsterdam; BIC/BioAssist/RK [2008.024]; European Science Foundation [EU/QLRT-200101254]; European Community's Seventh Framework Program [FP7/2007-2013]; ENGAGE [HEALTH-F4-2007-201413]; European Science Council [ERC 230374]; GAIN of the Foundation for the US National Institutes of Health; GAIN; NIMH [MH081802, MH072802, N01MH90003]; Australian National Health and Medical Research Council [241944, 339462, 389927, 389875, 389891, 389892, 389938, 442915, 442981, 496675, 496739, 552485, 552498, 613602, 613608, 613674, 619667]; Australian Research Council [FT0991360, FT0991022]; FP-5 GenomEUtwin Project [QLG2-CT-2002-01254]; US National Institutes of Health [AA07535, AA10248, AA13320, AA13321, AA13326, AA14041, MH66206, DA12854, DA019951, U01 DK066134]; Center for Inherited Disease Research (Baltimore, MD); UK Medical Research Council and GlaxoSmithKline [G0701420]; National Institute for Health Research Specialist Biomedical Research Centre for Mental Health at the South London; Maudsley National Health Service Foundation Trust; Institute of Psychiatry, King's College London; UK Medical Research Council [G0000647]; Marie Curie Industry-Academia Partnership and Pathways [286213]; European Commission Framework 6 grant (EC) [LSHB-CT2003- 503428]; GlaxoSmithKline; Faculty of Biology and Medicine of Lausanne; Swiss National Science Foundation [3200B0-105993, 3200B0-118308, 33CSCO-122661, 33CS30-139468, 33CS30-148401]; GlaxoSmithKline Clinical Genetics; Federal Ministry of Education and Research [01ZZ9603, 01ZZ0103, 01ZZ0403, 03ZIK012]; Ministry of Cultural Affairs; Social Ministry of the Federal State of Mecklenburg-West Pomerania; Siemens Healthcare, Erlangen, Germany; DFG [GR 1912/5-1, FOR 2107, DA1151/5-1]; Swedish Ministry for Higher Education; Swedish Research Council [M-2005-1112]; GenomEUtwin [QLG2-CT-2002-01254, EU/QLRT2001-01254]; Swedish Foundation for Strategic Research; Danish Strategic Research Council; Stanley Research Foundation; European Union [N Health-F2-2008-222963]; Innovative Medizinische Forschung of the Medical Faculty of Munster [DA120903, DA111107, DA211012]; Wellcome Trust Strategic Award "Stratifying Resilience and Depression Longitudinally" [104036/Z/14/Z]; Chief Scientist Office of the Scottish Government Health Directorates [CZD/16/6]; Scottish Funding Council [HR03006]; Broad Institute Center for Genotyping and Analysis [U54 RR020278]; NIMH; National Alliance for Research on Schizophrenia and Depression; BBSRC; MRC; German Federal Ministry of Education and Research; European Union (FP 7); Interdisciplinary Center for Clinical Research Munster; National Health and Medical Research Council Australia; MRC-BBSRC, Centre for Cognitive Ageing and Cognitive Epidemiology, part of the cross council Lifelong Health and Wellbeing Initiative [MR/K026992/1]; German Research Foundation; Federal Ministry of Education; Research Germany and speakers honoraria from Eli Lilly and Servier; Medical Research Council (MRC); Biotechnology and Biological Sciences Research Council (BBSRC); NRS Career Fellowship - Chief Scientist Office; Scottish Funding Council Senior Clinical Fellowship; Dame Theresa and Mortimer Sackler Foundation; Netherlands Organization for Scientific Research [NOW VENI 916-76-125] FX The PGC was funded by National Institute of Mental Health (NIMH) Grant Nos. MH085520 (to PFS) and MH080403. Statistical analyses were carried out on the Genetic Cluster Computer (http://www. geneticcluster.org) hosted by SURFsara and financially supported by the Netherlands Scientific Organization Grant No. NWO 480-05-003 (to D. Posthuma) and the department of Psychology, Vrije Universiteit Amsterdam along with a supplement from the Dutch Brain Foundation. The Bonn/Mannheim GWAS was supported by the German Federal Ministry of Education and Research (BMBF) through the Integrated Genome Research Network Systematic Investigation of the Molecular Causes of Major Mood Disorders and Schizophrenia Grant Nos. 01GS08144 and 01GS08147, under the auspices of the National Genome Research Network plus, and through the Integrated Network Integrated Understanding of Causes and Mechanisms in Mental Disorders, under the auspices of the e:Med Programme Grant Nos. 01ZX1314A and 01ZX1314G. The Bonn/Mannheim GWAS was also supported by the German Research Foundation (DFG) Grant Nos. FOR2107, RI908/11-1, and NO246/10-1. The GenRED GWAS project was supported by NIMH R01 Grant Nos. MH061686 (to DFL), MH059542 (to W.H. Coryell), MH075131 (W.B. Lawson), MH059552 (JBP), MH059541 (W.A. Scheftner), and MH060912 (MMW). Max Planck Institute of Psychiatry MARS study was supported by the BMBF Program Molecular Diagnostics: Validation of Biomarkers for Diagnosis and Outcome in Major Depression by Grant No. 01ES0811. Genotyping was supported by the Bavarian Ministry of Commerce, and the BMBF in the framework of the National Genome Research Network by Grant Nos. NGFN2 and NGFN-Plus, FKZ 01GS0481 and 01GS08145. The Netherlands Study of Depression and Anxiety and the Netherlands Twin Register contributed to Genetic Association Information Network (GAIN)-MDD and to MDD2000. Funding for NTR/NESDA was from the following: the Netherlands Organization for Scientific Research (MagW/ZonMW Grant Nos. 904-61-090, 985-10-002, 904-61-193, 480-04004, 400-05-717, 912-100-20; Spinozapremie Grant No. 56-464-14192; Geestkracht program Grant No. 10-000-1002); the Center for Medical Systems Biology (NWO Genomics), Biobanking and Biomolecular Resources Research Infrastructure, Vrije Universiteit's Institutes for Health and Care Research and Neuroscience Campus Amsterdam, BIC/BioAssist/RK (Grant No. 2008.024); the European Science Foundation (Grant No. EU/QLRT-200101254); the European Community's Seventh Framework Program (Grant No. FP7/2007-2013); ENGAGE (Grant No. HEALTH-F4-2007-201413); and the European Science Council (Grant No. ERC 230374). Genotyping was funded in part by the GAIN of the Foundation for the US National Institutes of Health, and analysis was supported by grants from GAIN and the NIMH (Grant No. MH081802). Funding for the QIMR samples was provided by the Australian National Health and Medical Research Council (Grant Nos. 241944, 339462, 389927, 389875, 389891, 389892, 389938, 442915, 442981, 496675, 496739, 552485, 552498, 613602, 613608, 613674, 619667), the Australian Research Council (Grant Nos. FT0991360, FT0991022), the FP-5 GenomEUtwin Project (Grant No. QLG2-CT-2002-01254), and the US National Institutes of Health (Grant Nos. AA07535, AA10248, AA13320, AA13321, AA13326, AA14041, MH66206, DA12854, DA019951), and the Center for Inherited Disease Research (Baltimore, MD). RADIANT was funded by the following: a joint grant from the UK Medical Research Council and GlaxoSmithKline (Grant No.; G0701420); the National Institute for Health Research Specialist Biomedical Research Centre for Mental Health at the South London and Maudsley National Health Service Foundation Trust and the Institute of Psychiatry, King's College London; the UK Medical Research Council (Grant No. G0000647), and the Marie Curie Industry-Academia Partnership and Pathways (Grant No. 286213). The GENDEP study was funded by a European Commission Framework 6 grant (EC Contract Ref.: LSHB-CT2003- 503428). Genotyping of STAR* D was supported by NIMH Grant No. MH072802 (to SPH). STAR* D was funded by NIMH Grant No. N01MH90003 to the University of Texas Southwestern Medical Center at Dallas (to A.J. Rush). The CoLaus/PsyCoLaus study was supported by research grants from GlaxoSmithKline, the Faculty of Biology and Medicine of Lausanne, and the Swiss National Science Foundation (Grant Nos. 3200B0-105993, 3200B0-118308, 33CSCO-122661, 33CS30-139468, 33CS30-148401) and two grants from GlaxoSmithKline Clinical Genetics. SHIP is part of the Community Medicine Research net of the University of Greifswald, Germany, which is funded by the Federal Ministry of Education and Research (Grant Nos. 01ZZ9603, 01ZZ0103, 01ZZ0403), the Ministry of Cultural Affairs, and the Social Ministry of the Federal State of Mecklenburg-West Pomerania. Genome-wide data have been supported by the Federal Ministry of Education and Research (Grant No. 03ZIK012) and a joint grant from Siemens Healthcare, Erlangen, Germany, and the Federal State of Mecklenburg-West Pomerania. SHIP-LEGEND is funded by the DFG (Grant No. GR 1912/5-1). The TwinGene study was supported by the Swedish Ministry for Higher Education, the Swedish Research Council (Grant No. M-2005-1112), GenomEUtwin (Grant Nos. EU/QLRT2001-01254,QLG2-CT-2002-01254), the Swedish Foundation for Strategic Research and the US National Institutes of Health (Grant No. U01 DK066134). The collection of PRISME control subjects and genotyping of the 883 Danish control subjects was supported by grants from The Danish Strategic Research Council, The Stanley Research Foundation, and H. Lundbeck A/S. The Muenster Depression cohorts were supported by the European Union (Grant No. N Health-F2-2008-222963) and by grants from the DFG (Grant Nos. FOR 2107 and DA1151/5-1 [ to UD]), Innovative Medizinische Forschung of the Medical Faculty of Munster (Grant Nos. DA120903, DA111107, and DA211012 [ all to UD]). Generation Scotland is supported by a Wellcome Trust Strategic Award "Stratifying Resilience and Depression Longitudinally" (Reference No.: 104036/Z/14/Z) and core support from the Chief Scientist Office of the Scottish Government Health Directorates (Grant No. CZD/16/6) and the Scottish Funding Council (Grant No. HR03006).; The NIMH Cell Repository at Rutgers University and the NIMH Center for Collaborative Genetic Studies on Mental Disorders made essential contributions to this project. Genotyping was carried out by the Broad Institute Center for Genotyping and Analysis with support from Grant No. U54 RR020278 (which partially subsidized the genotyping of the GenRED cases). Collection and quality control analyses of the control dataset were supported by grants from NIMH and the National Alliance for Research on Schizophrenia and Depression.; We acknowledge the contributions of Dr. George S Zubenko and Dr. Wendy N Zubenko, Department of Psychiatry, University of Pittsburgh School of Medicine, to the GenRED I project. We are grateful to Knowledge Networks (Menlo Park, CA) for assistance in collecting the control dataset. We express our profound appreciation to the families who participated in this project, and to the many clinicians who facilitated the referral of participants to the study. We thank the twins and their families registered at the Australian Twin Registry for their participation in the many studies that have contributed to this research. We thank V. Mooser, G. Weaber, and P. Vollenweider who initiated the CoLaus project. We express our gratitude to the Lausanne inhabitants who volunteered to participate in the PsyCoLaus study. We would like to acknowledge the PRISME-study group, Denmark, for collection of the PRISME samples. We thank David M. Hougaard, Section of Neonatal Screening and Hormones, Statens Serum Institute, Copenhagen, Denmark; Preben Bo Mortensen, National Centre for Register-based Research, Aarhus University, Denmark; Merete Nordentoft, Mental Health Centre, Copenhagen, Denmark; and The Lundbeck Foundation Initiative for Integrative Psychiatric Research, iPSYCH, Denmark. Funding from the BBSRC and MRC is gratefully acknowledged.; Data used in the preparation of this article were obtained from the Genetic and Environmental Risk for Alzheimer's disease (GERAD1) Consortium. As such, the investigators within the GERAD1 consortia contributed to the design and implementation of GERAD1 and/or provided data but did not participate in analysis or writing of this report.; SS, HS, KS, and TET are employees of deCODE Genetics/Amgen. VA received funds from the German Federal Ministry of Education and Research, from the European Union (FP 7), and from the Interdisciplinary Center for Clinical Research Munster, and he has served on the advisory boards of, or has given presentations on behalf of the following companies: Astra-Zeneca, Janssen-Organon, Lilly, Lundbeck, Servier, Pfizer, Otsuka, and Trommsdorff. BTB has received funding from the National Health and Medical Research Council Australia and honoraria from Lundbeck, BristolMeyers Squibb, Sanofi, Servier, Astra-Zeneca, Pfizer. IJD is supported by the MRC-BBSRC, Centre for Cognitive Ageing and Cognitive Epidemiology, part of the cross council Lifelong Health and Wellbeing Initiative (Grant No. MR/K026992/1). HJG has received funding from German Research Foundation and Federal Ministry of Education and Research Germany and speakers honoraria from Eli Lilly and Servier. CH acknowledges support from the Medical Research Council (MRC) and the Biotechnology and Biological Sciences Research Council (BBSRC). DJM is supported by an , funded by the Chief Scientist Office. AMM is supported by a Scottish Funding Council Senior Clinical Fellowship and by the Dame Theresa and Mortimer Sackler Foundation and has received research support from Pfizer, Janssen, and Lilly. CMM was supported by the Netherlands Organization for Scientific Research (Grant No. NOW VENI 916-76-125). BM- M has consulted for Affectis Pharmaceuticals. MP has served on the advisory boards of Lundbeck and Eli Lilly NR 56 TC 2 Z9 2 U1 2 U2 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0006-3223 EI 1873-2402 J9 BIOL PSYCHIAT JI Biol. Psychiatry PD FEB 15 PY 2017 VL 81 IS 4 BP 325 EP 335 DI 10.1016/j.biopsych.2016.05.010 PG 11 WC Neurosciences; Psychiatry SC Neurosciences & Neurology; Psychiatry GA EO9MT UT WOS:000397013500012 PM 27519822 ER PT J AU Pinsky, PF Prorok, PC Yu, K Kramer, BS Black, A Gohagan, JK Crawford, ED Grubb, RL Andriole, GL AF Pinsky, Paul F. Prorok, Philip C. Yu, Kelly Kramer, Barnett S. Black, Amanda Gohagan, John K. Crawford, E. David Grubb, Robert L. Andriole, Gerald L. TI Extended Mortality Results for Prostate Cancer Screening in the PLCO Trial With Median Follow-Up of 15 Years SO CANCER LA English DT Article DE digital rectal examination (DRE); prostate cancer; prostate-specific antigen (PSA); randomized trial; screening ID SERVICES TASK-FORCE; PSA TESTING RATES AB BACKGROUND: Two large-scale prostate cancer screening trials using prostate-specific antigen (PSA) have given conflicting results in terms of the efficacy of such screening. One of those trials, the Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, previously reported outcomes with 13 years of follow-up. This study presents updated findings from the PLCO trial. METHODS: The PLCO trial randomized subjects from 1993 to 2001 to an intervention or control arm. Intervention-arm men received annual PSA tests for 6 years and digital rectal examinations for 4 years. This study used a linkage with the National Death Index to extend mortality follow-up to a maximum of 19 years after randomization. RESULTS: Men were randomized to the intervention arm (n=38,340) or the control arm (n=38,343). The median follow-up time was 14.8 years (25th/75th, 12.7/16.5 years) in the intervention arm and 14.7 years (25th/75th, 12.6/16.4 years) in the control arm. There were 255 deaths from prostate cancer in the intervention arm and 244 deaths from prostate cancer in the control arm; this meant a rate ratio (RR) of 1.04 (95% confidence interval [ CI], 0.87-1.24). The RR for all-cause mortality was 0.977 (95% CI, 0.950-1.004). It was estimated that 86% of the men in the control arm and 99% of the men in the intervention arm received any PSA testing during the trial, and the estimated yearly screening-phase PSA testing rates were 46% and 84%, respectively. CONCLUSIONS: Extended follow-up of the PLCO trial over a median of 15 years continues to indicate no reduction in prostate cancer mortality for the intervention arm versus the control arm. Because of the high rate of control-arm PSA testing, this finding can be viewed as showing no benefit of organized screening versus opportunistic screening. (C) 2016 American Cancer Society. C1 [Pinsky, Paul F.; Prorok, Philip C.; Kramer, Barnett S.] NCI, Canc Prevent Div, NIH, 9609 Med Ctr Dr,Room 5E108, Bethesda, MD 20892 USA. [Yu, Kelly; Black, Amanda] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Gohagan, John K.] NIH, Off Dis Prevent, Bldg 10, Bethesda, MD 20892 USA. [Crawford, E. David] Univ Colorado, Sch Med, Dept Surg, Aurora, CO USA. [Grubb, Robert L.; Andriole, Gerald L.] Washington Univ, Sch Med, Div Urol, St Louis, MO USA. RP Pinsky, PF (reprint author), NCI, Canc Prevent Div, NIH, 9609 Med Ctr Dr,Room 5E108, Bethesda, MD 20892 USA. EM pp4f@nih.gov FU National Cancer Institute [HHSN261201100008C] FX This study was funded in part by National Cancer Institute contract HHSN261201100008C to E. David Crawford, Robert Grubb, and Gerald Andriole; the other authors are employees of the National Institutes of Health. NR 16 TC 2 Z9 2 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0008-543X EI 1097-0142 J9 CANCER-AM CANCER SOC JI Cancer PD FEB 15 PY 2017 VL 123 IS 4 BP 592 EP 599 DI 10.1002/cncr.30474 PG 8 WC Oncology SC Oncology GA EO6ZP UT WOS:000396841300010 PM 27911486 ER PT J AU Drahos, J Ricker, W Pfeiffer, RM Cook, MB AF Drahos, Jennifer Ricker, Winnie Pfeiffer, Ruth M. Cook, Michael B. TI Metabolic Syndrome and Risk of Esophageal Adenocarcinoma in Elderly Patients in the United States: An Analysis of SEER-Medicare Data SO CANCER LA English DT Article DE Barrett esophagus; esophageal cancer; gastroesophageal reflux; obesity; risk factors ID GASTROESOPHAGEAL-REFLUX DISEASE; BARRETTS-ESOPHAGUS; SYNDROME INCREASES; CANCER-RISK; OBESITY; ASSOCIATION; SEX; EPIDEMIOLOGY; METAANALYSIS; POPULATION AB BACKGROUND: Metabolic syndrome (MetS) is associated with cancer risk and increases the risk of Barrett esophagus, which is the precursor lesion of esophageal adenocarcinoma (EA), primarily in the absence of gastroesophageal reflux disease (GERD). However, to the authors' knowledge, little is known regarding whether MetS is associated with the risk of EA. METHODS: Using the Surveillance, Epidemiology, and End Results (SEER)-Medicare-linked database, the authors evaluated whether MetS was associated with EA. A total of 3167 cases of EA were compared with individually matched population controls (5: 1); a subset of 575 EA cases were able to be individually matched with 575 Barrett esophagus controls. MetS was defined using International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes in the period 1 to 3 years before the diagnosis of EA or control selection. Unconditional logistic regression was used to estimate adjusted odds ratios and 95% confidence intervals. Potential effect modification by GERD symptoms and sex was examined in stratified models. RESULTS: EA was found to be significantly associated with MetS (odds ratio, 1.16; 95% confidence interval, 1.06-1.26) compared with population controls. In males, the association was restricted to those individuals without prior GERD; however, in females, MetS was found to be associated with EA regardless of GERD status. Effect modification by sex was observed (P for interaction=.01). MetS was not found to be associated with EA risk when compared with Barrett esophagus controls. CONCLUSIONS: In this older population, MetS was found to be associated with an increased risk of EA in males without GERD and females regardless of GERD status. Given the lack of an association when compared with Barrett esophagus controls, MetS may impact EA risk by primarily increasing the risk of the precursor lesion, Barrett esophagus. (C) 2016 American Cancer Society. C1 [Drahos, Jennifer; Pfeiffer, Ruth M.; Cook, Michael B.] NCI, Div Canc Epidemiol & Genet, NIH, Rockville, MD USA. [Ricker, Winnie] Informat Management Serv Inc, Rockville, MD USA. RP Drahos, J (reprint author), NCI, Hormonal & Reprod Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, 9609 Med Ctr Dr,MSC 9774, Bethesda, MD 20892 USA. EM jdrahos@gmail.com FU National Cancer Institute at the National Institutes of Health; Department of Health and Human Services FX Supported by the Intramural Program of the National Cancer Institute at the National Institutes of Health and the Department of Health and Human Services. The findings and conclusions in this report are those of the authors and do not necessarily represent the official position of the National Institutes of Health. NR 41 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0008-543X EI 1097-0142 J9 CANCER-AM CANCER SOC JI Cancer PD FEB 15 PY 2017 VL 123 IS 4 BP 657 EP 665 DI 10.1002/cncr.30365 PG 9 WC Oncology SC Oncology GA EO6ZP UT WOS:000396841300017 PM 27861759 ER PT J AU Adamo, M Boten, JA Coyle, LM Cronin, KA Lam, CJK Negoita, S Penberthy, L Stevens, JL Ward, KC AF Adamo, Margaret (Peggy) Boten, Jessica A. Coyle, Linda M. Cronin, Kathleen A. Lam, Clara J. K. Negoita, Serban Penberthy, Lynne Stevens, Jennifer L. Ward, Kevin C. CA Natl Canc Inst Surveillance TI Validation of Prostate-Specific Antigen Laboratory Values Recorded in Surveillance, Epidemiology, and End Results Registries SO CANCER LA English DT Article DE data quality; implied decimal; laboratory value; prostate cancer; prostate-specific antigen (PSA); staging; Surveillance; Epidemiology; and End Results (SEER) program ID BEAM RADIATION-THERAPY; RADICAL PROSTATECTOMY; CANCER; RECOMMENDATION; RECURRENCE; NOMOGRAM; PREDICT; UPDATE; MARKER; MEN AB BACKGROUND: Researchers have used prostate-specific antigen (PSA) values collected by central cancer registries to evaluate tumors for potential aggressive clinical disease. An independent study collecting PSA values suggested a high error rate (18%) related to implied decimal points. To evaluate the error rate in the Surveillance, Epidemiology, and End Results (SEER) program, a comprehensive review of PSA values recorded across all SEER registries was performed. METHODS: Consolidated PSA values for eligible prostate cancer cases in SEER registries were reviewed and compared with text documentation from abstracted records. Four types of classification errors were identified: implied decimal point errors, abstraction or coding implementation errors, nonsignificant errors, and changes related to "unknown" values. RESULTS: A total of 50,277 prostate cancer cases diagnosed in 2012 were reviewed. Approximately 94.15% of cases did not have meaningful changes (85.85% correct, 5.58% with a nonsignificant change of <1 ng/mL, and 2.80% with no clinical change). Approximately 5.70% of cases had meaningful changes (1.93% due to implied decimal point errors, 1.54% due to abstract or coding errors, and 2.23% due to errors related to unknown categories). Only 419 of the original 50,277 cases (0.83%) resulted in a change in disease stage due to a corrected PSA value. CONCLUSIONS: The implied decimal error rate was only 1.93% of all cases in the current validation study, with a meaningful error rate of 5.81%. The reasons for the lower error rate in SEER are likely due to ongoing and rigorous quality control and visual editing processes by the central registries. The SEER program currently is reviewing and correcting PSA values back to 2004 and will re-release these data in the public use research file. (C) 2016 The Authors. Cancer published by Wiley Periodicals, Inc. on behalf of American Cancer Society. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited and is not used for commercial purposes. C1 [Adamo, Margaret (Peggy); Boten, Jessica A.; Cronin, Kathleen A.; Lam, Clara J. K.; Penberthy, Lynne] NCI, Surveillance Res Program, Div Canc Control & Populat Sci, 9609 Med Ctr Dr,Rm 4E454, Rockville, MD 20850 USA. [Coyle, Linda M.; Stevens, Jennifer L.] Informat Management Serv Inc, Calverton, MD USA. [Negoita, Serban] Westat Corp, Rockville, MD USA. [Ward, Kevin C.] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30322 USA. RP Cronin, KA (reprint author), NCI, Surveillance Res Program, Div Canc Control & Populat Sci, 9609 Med Ctr Dr,Rm 4E454, Rockville, MD 20850 USA. EM Kathy.cronin@nih.gov FU Surveillance Research Program of the Division of Cancer Control and Population Sciences at the National Cancer Institute/National Institutes of Health contracts FX Supported by Surveillance Research Program of the Division of Cancer Control and Population Sciences at the National Cancer Institute/National Institutes of Health contracts with the Surveillance, Epidemiology, and End Results registries. The authors gratefully acknowledge the contributions of the state and regional cancer registry staffs for their work in collecting the data used for this study. NR 21 TC 0 Z9 0 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0008-543X EI 1097-0142 J9 CANCER-AM CANCER SOC JI Cancer PD FEB 15 PY 2017 VL 123 IS 4 BP 697 EP 703 DI 10.1002/cncr.30401 PG 7 WC Oncology SC Oncology GA EO6ZP UT WOS:000396841300022 ER PT J AU Carta, D Bortolozzi, R Sturlese, M Salmaso, V Hamel, E Basso, G Calderan, L Quintieri, L Moro, S Viola, G Ferlin, MG AF Carta, Davide Bortolozzi, Roberta Sturlese, Mattia Salmaso, Veronica Hamel, Ernest Basso, Giuseppe Calderan, Laura Quintieri, Luigi Moro, Stefano Viola, Giampietro Ferlin, Maria Grazia TI Synthesis, structure-activity relationships and biological evaluation of 7-phenyl-pyrroloquinolinone 3-amide derivatives as potent antimitotic agents SO EUROPEAN JOURNAL OF MEDICINAL CHEMISTRY LA English DT Article DE Microtubules; Phenylpyrroloquinolinone; Tubulin; Apoptosis; Molecular docking; Structure-activity relationships ID SHOW POTENT; IN-VITRO; TUBULIN; CANCER; POLYMERIZATION; GENERATION; APOPTOSIS; MITOCHONDRIA; INHIBITORS; CELLS AB A small library of 7-pyrrolo[3,2-f]quinolinones was obtained by introducing benzoyl, sulfonyl and carbamoyl side chains at the 3-N position, and their cytotoxicity against a panel of leukemic and solid tumor cell lines was evaluated. Most of them showed high antiproliferative activity with GI(50)s ranging from micro-to sub-nanomolar values, and these values correlated well with the inhibitory activities of the compounds against tubulin polymerization. Based on a recently proposed colchicine bind site inhibitors (CBSIs) pharmacophore, the interactions of the novel 7-PPyQs at the colchicine domain were rationalized. The most active compounds (4a and 4b) did not induce significant cell death in normal human lymphocytes, suggesting that the compounds may be selective against cancer cells. In particular, 4a was a potent inducer of apoptosis in both the HeLa and Jurkat cell lines. On the other hand, the sulfonyl derivative 4b exhibited a lower potency in comparison with 4a. With both compounds, induction of apoptosis was associated with dissipation of the mitochondrial transmembrane potential and production of reactive oxygen species, suggesting that cells treated with the compounds followed the intrinsic pathway of apoptosis. (C) 2016 Elsevier Masson SAS. C1 [Carta, Davide; Sturlese, Mattia; Salmaso, Veronica; Calderan, Laura; Quintieri, Luigi; Moro, Stefano; Ferlin, Maria Grazia] Univ Padua, Dept Pharmaceut & Pharmacol Sci, I-35131 Padua, Italy. [Bortolozzi, Roberta; Basso, Giuseppe; Viola, Giampietro] Univ Padua, Dept Womans & Childs Hlth, Lab Oncohematol, I-35128 Padua, Italy. [Hamel, Ernest] Natl Inst Hlth, Screening Technol Branch, Dev Therapeut Program,Div Canc Treatment & Diag, Fredrick Natl Lab Canc Res,Natl Canc Inst, Frederick, MD 21702 USA. RP Ferlin, MG (reprint author), Univ Padua, Dept Pharmaceut & Pharmacol Sci, I-35131 Padua, Italy. EM mariagrazia.ferlin@unipd.it RI Viola, Giampietro/I-4095-2012 OI Viola, Giampietro/0000-0001-9329-165X FU University of Padova, Italy; University of Padova, Italy (UNIPD, Progetto Giovani Studiosi) [79122]; European COST Action (GLISTEN) [CM1207] FX The computational work coordinated by S.M. has been supported with financial support from the University of Padova, Italy. MMS lab is also very grateful to Chemical Computing Group and OpenEye Scientific for the scientific and technical partnership. S.M. participates in the European COST Action CM1207 (GLISTEN). The work of M.S. has been supported by University of Padova, Italy (UNIPD, Progetto Giovani Studiosi 2013: Protocol number 79122). The content of this paper is solely the responsibility of the authors and does not necessarily reflect the official views of the Italian Ministry of Health. NR 30 TC 0 Z9 0 U1 6 U2 6 PU ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER PI PARIS PA 23 RUE LINOIS, 75724 PARIS, FRANCE SN 0223-5234 EI 1768-3254 J9 EUR J MED CHEM JI Eur. J. Med. Chem. PD FEB 15 PY 2017 VL 127 BP 643 EP 660 DI 10.1016/j.ejmech.2016.10.026 PG 18 WC Chemistry, Medicinal SC Pharmacology & Pharmacy GA EP1VQ UT WOS:000397172800052 PM 27823884 ER PT J AU Bouhrara, M Spencer, RG AF Bouhrara, Mustapha Spencer, Richard G. TI Rapid simultaneous high-resolution mapping of myelin water fraction and relaxation times in human brain using BMC-mcDESPOT SO NEUROIMAGE LA English DT Article DE Brain; MRI; High-resolution mapping; Myelin water fraction; Relaxation times ID STATE FREE PRECESSION; MRI T-2 RELAXATION; PROGRESSIVE MULTIPLE-SCLEROSIS; STOCHASTIC REGION CONTRACTION; APPEARING WHITE-MATTER; TEMPORAL-LOBE EPILEPSY; MAGNETIC-RESONANCE; IN-VIVO; T2 RELAXATION; OFF-RESONANCE AB A number of central nervous system (CNS) diseases exhibit changes in myelin content and magnetic resonance longitudinal, T-1, and transverse, T-2, relaxation times, which therefore represent important biomarkers of CNS pathology. Among the methods applied for measurement of myelin water fraction (MWF) and relaxation times, the multicomponent driven equilibrium single pulse observation of T-1 and T-2 (mcDESPOT) approach is of particular interest. mcDESPOT permits whole brain mapping of multicomponent T-1 and T-2, with data acquisition accomplished within a clinically realistic acquisition time. Unfortunately, previous studies have indicated the limited performance of mcDESPOT in the setting of the modest signal-to-noise range of high-resolution mapping, required for the depiction of small structures and to reduce partial volume effects. Recently, we showed that a new Bayesian Monte Carlo (BMC) analysis substantially improved determination of MWF from mcDESPOT imaging data. However, our previous study was limited in that it did not discuss determination of relaxation times. Here, we extend the BMC analysis to the simultaneous determination of whole-brain MWF and relaxation times using the two-component mcDESPOT signal model. Simulation analyses and in-vivo human brain studies indicate the overall greater performance of this approach compared to the stochastic region contraction (SRC) algorithm, conventionally used to derive parameter estimates from mcDESPOT data. SRC estimates of the transverse relaxation time of the long T-2 fraction, T-2,T-l, and the longitudinal relaxation time of the short T-1 fraction, T-1,T-s , clustered towards the lower and upper parameter search space limits, respectively, indicating failure of the fitting procedure. We demonstrate that this effect is absent in the BMC analysis. Our results also showed improved parameter estimation for BMC as compared to SRC for high-resolution mapping. Overall we find that the combination of BMC analysis and mcDESPOT, BMC-mcDESPOT, shows excellent performance for accurate high-resolution whole-brain mapping of MWF and bi-component transverse and longitudinal relaxation times within a clinically realistic acquisition time. C1 [Bouhrara, Mustapha; Spencer, Richard G.] NIA, Magnet Resonance Imaging & Spect Sect, Clin Invest Lab, NIH,Intramural Res Program, BRC 04B-116,251 Bayview Blvd, Baltimore, MD 21224 USA. RP Bouhrara, M; Spencer, RG (reprint author), NIA, Magnet Resonance Imaging & Spect Sect, Clin Invest Lab, NIH,Intramural Res Program, BRC 04B-116,251 Bayview Blvd, Baltimore, MD 21224 USA. EM bouhraram@mail.nih.gov; spencer@helix.nih.gov FU Intramural Research Program of the NIH, National Institute on Aging FX This work was supported by the Intramural Research Program of the NIH, National Institute on Aging. We thank David A. Reiter and Christopher M. Bergeron for assistance with data acquisition. NR 103 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 15 PY 2017 VL 147 BP 800 EP 811 DI 10.1016/j.neuroimage.2016.09.064 PG 12 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZW UT WOS:000394560600068 PM 27729276 ER PT J AU Chen, G Taylor, PA Shin, YW Reynolds, RC Cox, RW AF Chen, Gang Taylor, Paul A. Shin, Yong-Wook Reynolds, Richard C. Cox, Robert W. TI Untangling the relatedness among correlations, Part II: Inter-subject correlation group analysis through linear mixed-effects modeling SO NEUROIMAGE LA English DT Article ID FMRI GROUP-ANALYSIS; STATISTICAL-ANALYSIS; SOFTWARE; DISTANCE AB It has been argued that naturalistic conditions in FMRI studies provide a useful paradigm for investigating perception and cognition through a synchronization measure, inter-subject correlation (ISC). However, one analytical stumbling block has been the fact that the ISC values associated with each single subject are not independent, and our previous paper (Chen et al., 2016) used simulations and analyses of real data to show that the methodologies adopted in the literature do not have the proper control for false positives. In the same paper, we proposed nonparametric subject-wise bootstrapping and permutation testing techniques for one and two groups, respectively, which account for the correlation structure, and these greatly outperformed the prior methods in controlling the false positive rate (FPR); that is, subject-wise bootstrapping (SWB) worked relatively well for both cases with one and two groups, and subject-wise permutation (SWP) testing was virtually ideal for group comparisons. Here we seek to explicate and adopt a parametric approach through linear mixed-effects (LME) modeling for studying the ISC values, building on the previous correlation framework, with the benefit that the LME platform offers wider adaptability, more powerful interpretations, and quality control checking capability than nonparametric methods. We describe both theoretical and practical issues involved in the modeling and the manner in which LME with crossed random effects (CRE) modeling is applied. A data-doubling step further allows us to conveniently track the subject index, and achieve easy implementations. We pit the LME approach against the best nonparametric methods, and find that the LME framework achieves proper control for false positives. The new LME methodologies are shown to be both efficient and robust, and they will be publicly available in AFNI (http://afni.nimh.nih.gov). C1 [Chen, Gang; Taylor, Paul A.; Reynolds, Richard C.; Cox, Robert W.] NIMH, Sci & Stat Comp Core, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Shin, Yong-Wook] Univ Ulsan, Coll Med, Dept Psychiat, Asan Med Ctr, Ulsan, South Korea. RP Chen, G (reprint author), NIMH, Sci & Stat Comp Core, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. EM gangchen@mail.nih.gov FU NTMH; NINDS Intramural Research Programs of the NIH/HHS, USA [ZICMH002888]; Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea [2012-0230] FX Our work benefited significantly from the statistical computational language and environment R, the LME package lme4 with the capability to modeling crossed random effects, and the great support of the R community. The research and writing of the paper were supported by the NTMH and NINDS Intramural Research Programs (ZICMH002888) of the NIH/HHS, USA, and by a grant (2012-0230) from the Asan Institute for Life Sciences, Asan Medical Center, Seoul, Korea. NR 23 TC 0 Z9 0 U1 1 U2 1 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 15 PY 2017 VL 147 BP 825 EP 840 DI 10.1016/j.neuroimage.2016.08.029 PG 16 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZW UT WOS:000394560600070 PM 27751943 ER PT J AU Torrisi, S Nord, CL Balderston, NL Roiser, JP Grillon, C Ernst, M AF Torrisi, Salvatore Nord, Camilla L. Balderston, Nicholas L. Roiser, Jonathan P. Grillon, Christian Ernst, Monique TI Resting state connectivity of the human habenula at ultra-high field SO NEUROIMAGE LA English DT Article DE 7 T; Anxiety; Depression; Seed-based functional connectivity ID LATERAL HABENULA; HUMAN BRAIN; FUNCTIONAL CONNECTIVITY; 7 T; NUCLEI; FMRI; DEPRESSION; FLUCTUATIONS; STIMULI; SYSTEM AB The habenula, a portion of the epithalamus, is implicated in the pathophysiology of depression, anxiety and addiction disorders. Its small size and connection to other small regions prevent standard human imaging from delineating its structure and connectivity with confidence. Resting state functional connectivity is an established method for mapping connections across the brain from a seed region of interest. The present study takes advantage of 7 T fMRI to map, for the first time, the habenula resting state network with very high spatial resolution in 32 healthy human participants. Results show novel functional connections in humans, including functional connectivity with the septum and bed nucleus of the stria terminalis (BNST). Results also show many habenula connections previously described only in animal research, such as with the nucleus basalis of Meynert, dorsal raphe, ventral tegmental area (VTA), and periaqueductal grey (PAG). Connectivity with caudate, thalamus and cortical regions such as the anterior cingulate, retrosplenial cortex and auditory cortex are also reported. This work, which demonstrates the power of ultra-high field for mapping human functional connections, is a valuable step toward elucidating subcortical and cortical regions of the habenula network. C1 [Torrisi, Salvatore; Balderston, Nicholas L.; Grillon, Christian; Ernst, Monique] NIMH, Sect Neurobiol Fear & Anxiety, Bethesda, MD 20892 USA. [Nord, Camilla L.; Roiser, Jonathan P.] UCL, Neurosci & Cognit Neuropsychiat Grp, London, England. RP Torrisi, S (reprint author), NIMH, Sect Neurobiol Fear & Anxiety, Bethesda, MD 20892 USA. FU Intramural Research Program of the National Institutes of Mental Health [ZIAMH002798, 02-M-0321, NCT00047853] FX Special thanks to Rick Reynolds and Daniel Glen for analysis help, Katherine O'Connell, Andrew Davis, Gaby Alvarez and Joseph Leshin for data collection help, Bari Fuchs for generating the anatomical underlay, Erika Raven for iron deposition insight, and Okihide Hikosaka for valuable feedback. This work utilized the computational resources of the NIH HPC Biowulf cluster (http://hpc.nih.gov). This work was supported by the Intramural Research Program of the National Institutes of Mental Health, project number ZIAMH002798 (clinical protocol 02-M-0321, NCT00047853) to CG. JPR is a consultant for Cambridge Cognition, though this is not relevant to the current work. The authors report no competing interest. The author(s) declare that, except for income received from the primary employer, no financial support or compensation has been received from any individual or corporate entity over the past 3 years for research or professional service and there are no personal financial holdings that could be perceived as constituting a potential conflict of interest. NR 62 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 15 PY 2017 VL 147 BP 872 EP 879 DI 10.1016/j.neuroimage.2016.10.034 PG 8 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZW UT WOS:000394560600074 PM 27780778 ER PT J AU Chen, G Taylor, PA Cox, RW AF Chen, Gang Taylor, Paul A. Cox, Robert W. TI Is the statistic value all we should care about in neuroimaging? SO NEUROIMAGE LA English DT Article ID RESTING STATE FMRI; METAANALYSIS; ACTIVATION; GUIDELINES; RESPONSES; MODEL; POWER AB Here we address an important issue that has been embedded within the neuroimaging community for a long time: the absence of effect estimates in results reporting in the literature. The statistic value itself, as a dimensionless measure, does not provide information on the biophysical interpretation of a study, and it certainly does not represent the whole picture of a study. Unfortunately, in contrast to standard practice in most scientific fields, effect (or amplitude) estimates are usually not provided in most results reporting in the current neuroimaging publications and presentations. Possible reasons underlying this general trend include (1) lack of general awareness, (2) software limitations, (3) inaccurate estimation of the BOLD response, and (4) poor modeling due to our relatively limited understanding of FMRI signal components. However, as we discuss here, such reporting damages the reliability and interpretability of the scientific findings themselves, and there is in fact no overwhelming reason for such a practice to persist. In order to promote meaningful interpretation, cross validation, reproducibility, meta and power analyses in neuroimaging, we strongly suggest that, as part of good scientific practice, effect estimates should be reported together with their corresponding statistic values. We provide several easily adaptable recommendations for facilitating this process. C1 [Chen, Gang; Taylor, Paul A.; Cox, Robert W.] NIMH, Sci & Stat Comp Core, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. RP Chen, G (reprint author), NIMH, Sci & Stat Comp Core, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. EM gangchen@mail.nih.gov FU NIME; NINDS Intramural Research Programs of the NIH/HHS, USA [ZICMH002888] FX We thank Laurentius Huber for useful discussions on the physical dependence of BOLD on MR acquisition. The research and writing of the paper were supported by the NIME and NINDS Intramural Research Programs (ZICMH002888) of the NIH/HHS, USA. NR 51 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 15 PY 2017 VL 147 BP 952 EP 959 DI 10.1016/j.neuroimage.2016.09.066 PG 8 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZW UT WOS:000394560600081 PM 27729277 ER PT J AU Sclafani, JA Constantin, A Ho, PS Akuthota, V Chan, L AF Sclafani, Joseph A. Constantin, Alexandra Ho, Pei-Shu Akuthota, Venu Chan, Leighton TI y Descriptive Analysis of Spinal Neuroaxial Injections, Surgical Interventions, and Physical Therapy Utilization for Degenerative Lumbar Spondylolisthesis Within Medicare Beneficiaries from 2000 to 2011 SO SPINE LA English DT Article DE degenerative spondylolisthesis; epidural steroid injection; interventional pain management; low back pain; Medicare; physical therapy; prevalence; spinal interventional techniques; treatment utilization ID LOW-BACK-PAIN; SPONDYLOLYSIS; DISPLACEMENT; ASSOCIATION; POPULATION; PREVALENCE; DIAGNOSIS; EXERCISE; WOMEN AB Study Design. A retrospective, observational study. Objective. The aim of this study was to determine the utilization of various treatment modalities in the management of degenerative spondylolisthesis within Medicare beneficiaries. Summary of Background Data. Degenerative lumbar spondylolisthesis is a condition often identified in symptomatic low back pain. A variety of treatment algorithms including physical therapy and interventional techniques can be used to manage clinically significant degenerative spondylolisthesis. Methods. This study utilized the 5% national sample of Medicare carrier claims from 2000 through 2011. A cohort of beneficiaries with a new International Classification of Diseases 9th edition (ICD-9) diagnosis code for degenerative lumbar spondylolisthesis was identified. Current procedural terminology codes were used to identify the number of procedures performed each year by specialty on this cohort. Results. A total of 95,647 individuals were included in the analysis. Average age at the time of initial diagnosis was 72.8 +/- 9.8 years. Within this study cohort, spondylolisthesis was more prevalent in females (69%) than males and in Caucasians (88%) than other racial demographics. Over 50% of beneficiaries underwent at least one injection, approximately one-third (37%) participated in physical therapy, one in five (21%) underwent spinal surgery, and one-third (36%) did not utilize any of these interventions. Greater than half of all procedures (124,280/216,088) occurred within 2 years of diagnosis. The ratio of focal interventions (transforaminal and facet interventions) to less selective (interlaminar) procedures was greater for the specialty of Physical Medicine and Rehabilitation than for the specialties of Anesthesiology, Interventional Radiology, Neurosurgery, and Orthopedic Surgery. The majority of physical therapy was dedicated to passive treatment modalities and range of motion exercises rather than active strengthening modalities within this cohort. Conclusion. Interventional techniques and physical therapy are frequently used treatment modalities for symptomatic degenerative spondylolisthesis. Understanding utilization of these techniques is important to determine relative clinical efficacies and to optimize future health care expenditures. C1 [Sclafani, Joseph A.] Medstar Georgetown Univ, Natl Rehabil Hosp, Washington, DC USA. [Akuthota, Venu] Univ Colorado, Denver, CO 80202 USA. [Sclafani, Joseph A.; Constantin, Alexandra; Ho, Pei-Shu; Chan, Leighton] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Sclafani, JA (reprint author), 102 Irving St NW, Washington, DC 20010 USA. EM sclafani@ucla.edu FU National Institutes of Health FX The Intramural Research Program of the National Institutes of Health funds were received in support of this work. NR 25 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0362-2436 EI 1528-1159 J9 SPINE JI SPINE PD FEB 15 PY 2017 VL 42 IS 4 BP 240 EP 246 DI 10.1097/BRS.0000000000001724 PG 7 WC Clinical Neurology; Orthopedics SC Neurosciences & Neurology; Orthopedics GA EM9OS UT WOS:000395641600013 PM 28207664 ER PT J AU Thomas, A Tanaka, M Trepel, J Reinhold, WC Rajapakse, VN Pommier, Y AF Thomas, Anish Tanaka, Mamoru Trepel, Jane Reinhold, William C. Rajapakse, Vinodh N. Pommier, Yves TI Temozolomide in the Era of Precision Medicine SO CANCER RESEARCH LA English DT Review ID O-6-METHYLGUANINE-DNA METHYLTRANSFERASE; PROMOTER HYPERMETHYLATION; COLORECTAL-CANCER; GLIOBLASTOMA; METHYLATION; INACTIVATION; INHIBITION AB In the January 1, 2017, issue of Cancer Research, Nagel and colleagues demonstrate the value of assays that determine the DNA repair capacity of cancers in predicting response to temozolomide. Using a fluorescence-based multiplex flow cyto-metric host cell reactivation assay that provides simultaneous readout of DNA repair capacity across multiple pathways, they show that the multivariate drug response models derived from cell line data were applicable to patient-derived xenograft models of glioblastoma. In this commentary, we first outline the mechanism of activity and current clinical application of temozolomide, which, until now, has been largely limited to glioblastoma. Given the challenges of clinical application of functional assays, we argue that functional readouts be approximated by genomic signatures. In this context, a combination of MGMT activity and mismatch repair (MMR) status of the tumor are important parameters that determine sensitivity to temozolomide. More reliable methods are needed to determine MGMT activity as DNA methylation, the current standard, does not accurately reflect the expression of MGMT. Also, genomics for MMR are warranted. Furthermore, based on patterns of MGMT expression across different solid tumors, we make a case for revisiting temozolomide use in a broader spectrum of cancers based on our current understanding of its molecular basis of activity. (C) 2017 AACR. C1 NCI, Ctr Canc Res, Dev Therapeut Branch, Bethesda, MD 20892 USA. NCI, Ctr Canc Res, Mol Pharmacol Lab, Bethesda, MD 20892 USA. RP Thomas, A (reprint author), NIH, Bldg 37,Room 5068, Bethesda, MD 20892 USA. EM anish.thomas@nih.gov; pommier@nih.gov FU Center for Cancer Research, the Intramural Program of the NCI [Z01 BC 006150] FX This work was supported by the Center for Cancer Research, the Intramural Program of the NCI (Z01 BC 006150). NR 21 TC 1 Z9 1 U1 3 U2 3 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 0008-5472 EI 1538-7445 J9 CANCER RES JI Cancer Res. PD FEB 15 PY 2017 VL 77 IS 4 BP 823 EP 826 DI 10.1158/0008-5472.CAN-16-2983 PG 4 WC Oncology SC Oncology GA EK4HN UT WOS:000393887800003 PM 28159862 ER PT J AU Xie, GQ Chen, HQ Jia, DY Shu, ZQ Palmer, WH Huang, YC Zeng, XK Hou, SX Jiao, RJ Deng, WM AF Xie, Gengqiang Chen, Hanqing Jia, Dongyu Shu, Zhiqiang Palmer, William Hunt Huang, Yi-Chun Zeng, Xiankun Hou, Steven X. Jiao, Renjie Deng, Wu-Min TI The SWI/SNF Complex Protein Snr1 Is a Tumor Suppressor in Drosophila Imaginal Tissues SO CANCER RESEARCH LA English DT Article ID NOTCH; PROLIFERATION; MUTATIONS; GENOME; CANCER; GROWTH; GENES; CELLS; ENDOCYTOSIS; TRAFFICKING AB Components of the SWI/SNF chromatin-remodeling complex are among the most frequently mutated genes in various human cancers, yet only SMARCB1/hSNF5, a core member of the SWI/SNF complex, is mutated in malignant rhabdoid tumors (MRT). HowSMARCB1/hSNF5 functions differently from other members of the SWI/SNF complex remains unclear. Here, we use Drosophila imaginal epithelial tissues to demonstrate that Snr1, the conserved homolog of human SMARCB1/hSNF5, prevents tumorigenesis by maintaining normal endosomal trafficking-mediated signaling cascades. Removal of Snr1 resulted in neoplastic tumorigenic overgrowth in imaginal epithelial tissues, whereas deple-tion of any other members of the SWI/SNF complex did not induce similar phenotypes. Unlike other components of the SWI/SNF complex that were detected only in the nucleus, Snr1 was observed in both the nucleus and the cytoplasm. Aberrant regulation of multiple signaling pathways, including Notch, JNK, and JAK/STAT, was responsible for tumor progression upon snr1-depletion. Our results suggest that the cytoplasmic Snr1 may play a tumor suppressive role in Drosophila imaginal tissues, offering a foundation for understanding the pivotal role of SMARCB1/hSNF5 in suppressing MRT during early childhood. (C) 2017 AACR. C1 [Xie, Gengqiang; Jia, Dongyu; Shu, Zhiqiang; Palmer, William Hunt; Huang, Yi-Chun; Deng, Wu-Min] Florida State Univ, Dept Biol Sci, Tallahassee, FL 32306 USA. [Chen, Hanqing; Jiao, Renjie] Chinese Acad Sci, Inst Biophys, State Key Lab Brain & Cognit Sci, Beijing, Peoples R China. [Zeng, Xiankun; Hou, Steven X.] NCI, Basic Res Lab, NIH, Frederick, MD 21701 USA. [Jiao, Renjie] Guangzhou Med Univ, Sino French Hoffmann Inst, Guangzhou, Guangdong, Peoples R China. RP Deng, WM (reprint author), Florida State Univ, 319 Stadium Dr,King Life Sci Bldg, Tallahassee, FL 32306 USA.; Jiao, RJ (reprint author), Chinese Acad Sci, Beijing 100101, Peoples R China. EM rjiao@sun5.ibp.ac.cn; wumin@bio.fsu.edu OI Xie, Gengqiang/0000-0002-2064-4757 FU NIH [R01GM072562]; National Science Foundation [IOS-1052333]; National Natural Science Foundation of China [81470846, 31271573, 31529004]; Chinese Academy of Sciences [XDA04020413-02] FX W.-M. Deng is supported by the NIH (grant number R01GM072562) and the National Science Foundation (grant number IOS-1052333). R. Jiao is supported by grants from the National Natural Science Foundation of China (81470846, 31271573, and 31529004) and the Chinese Academy of Sciences (XDA04020413-02). NR 48 TC 0 Z9 0 U1 2 U2 2 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 0008-5472 EI 1538-7445 J9 CANCER RES JI Cancer Res. PD FEB 15 PY 2017 VL 77 IS 4 BP 862 EP 873 DI 10.1158/0008-5472.CAN-16-0963 PG 12 WC Oncology SC Oncology GA EK4HN UT WOS:000393887800007 PM 27923836 ER PT J AU Dzinic, SH Bernardo, MM Li, XH Fernandez-Valdivia, R Ho, YS Mi, QS Bandyopadhyay, S Lonardo, F Vranic, S Oliveira, DSM Bonfil, RD Dyson, G Chen, K Omerovic, A Sheng, XJ Han, X Wu, DH Bi, XL Cabaravdic, D Jakupovic, U Wahba, M Pang, AR Harajli, D Sakr, WA Sheng, SJ AF Dzinic, Sijana H. Bernardo, M. Margarida Li, Xiaohua Fernandez-Valdivia, Rodrigo Ho, Ye-Shih Mi, Qing-Sheng Bandyopadhyay, Sudeshna Lonardo, Fulvio Vranic, Semir Oliveira, Daniel S. M. Bonfil, R. Daniel Dyson, Gregory Chen, Kang Omerovic, Almasa Sheng, Xiujie Han, Xiang Wu, Dinghong Bi, Xinling Cabaravdic, Dzenana Jakupovic, Una Wahba, Marian Pang, Aaron Harajli, Deanna Sakr, Wael A. Sheng, Shijie TI An Essential Role of Maspin in Embryogenesis and Tumor Suppression SO CANCER RESEARCH LA English DT Article ID LUNG-CANCER; PULMONARY ADENOCARCINOMA; EXPRESSION PATTERNS; CRYSTAL-STRUCTURE; STEM-CELLS; PROSTATE; GENE; PROGRESSION; MODEL; MICE AB Maspin (SerpinB5) is an epithelial-specific tumor suppressor gene product that displays context-dependent cellular functions. Maspin-deficient mouse models created to date have not definitively established maspin functions critical for cancer suppression. In this study, we generated a mouse strain in which exon 4 of the Maspin gene was deleted, confirming its essential role in development but also enabling a breeding scheme to bypass embryonic lethality. Phenotypic characterization of this viable strain established that maspin deficiency was associated with a reduction in maximum body weight and a variety of context-dependent epithelial abnor-malities. Specifically, maspin-deficient mice exhibited pulmonary adenocarcinoma, myoepithelial hyperplasia of the mammary gland, hyperplasia of luminal cells of dorsolateral and anterior prostate, and atrophy of luminal cells of ventral prostate and stratum spinosum of epidermis. These cancer phenotypes were accompanied by increased inflammatory stroma. These mice also displayed the autoimmune disorder alopecia aerate. Overall, our findings defined context-specific tumor suppressor roles for maspin in a clinically relevant model to study maspin functions in cancer and other pathologies. (C) 2017 AACR. C1 [Dzinic, Sijana H.; Bernardo, M. Margarida; Li, Xiaohua; Fernandez-Valdivia, Rodrigo; Bandyopadhyay, Sudeshna; Lonardo, Fulvio; Oliveira, Daniel S. M.; Bonfil, R. Daniel; Omerovic, Almasa; Cabaravdic, Dzenana; Jakupovic, Una; Pang, Aaron; Harajli, Deanna; Sakr, Wael A.; Sheng, Shijie] Wayne State Univ, Sch Med, Dept Pathol, 540 East Canfield St, Detroit, MI 48201 USA. [Dzinic, Sijana H.; Bernardo, M. Margarida; Li, Xiaohua; Fernandez-Valdivia, Rodrigo; Mi, Qing-Sheng; Bandyopadhyay, Sudeshna; Lonardo, Fulvio; Oliveira, Daniel S. M.; Bonfil, R. Daniel; Dyson, Gregory; Chen, Kang; Omerovic, Almasa; Cabaravdic, Dzenana; Jakupovic, Una; Pang, Aaron; Harajli, Deanna; Sakr, Wael A.; Sheng, Shijie] Barbara Ann Karmanos Canc Inst, Tumor Biol & Microenvironm Program, Detroit, MI USA. [Ho, Ye-Shih] Wayne State Univ, Sch Med, Inst Environm Hlth Sci, Detroit, MI USA. [Mi, Qing-Sheng; Chen, Kang; Wu, Dinghong; Bi, Xinling] Wayne State Univ, Sch Med, Dept Immunol & Microbiol, Detroit, MI 48201 USA. [Mi, Qing-Sheng; Wu, Dinghong; Bi, Xinling] Henry Ford Hlth Syst, Dept Dermatol, Detroit, MI USA. [Vranic, Semir] Univ Clin Ctr, Dept Pathol, Div Expt Pathol, Sarajevo, Bosnia & Herceg. [Oliveira, Daniel S. M.; Bonfil, R. Daniel; Chen, Kang] Wayne State Univ, Sch Med, Dept Urol, Detroit, MI USA. [Bonfil, R. Daniel; Dyson, Gregory; Chen, Kang; Sheng, Shijie] Wayne State Univ, Sch Med, Dept Oncol, Detroit, MI USA. [Chen, Kang] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, NIH, Detroit, MI USA. [Chen, Kang] NIAID, Mucosal Immunol Studies Team, NIH, Bethesda, MD 20892 USA. [Sheng, Xiujie] Guangzhou Med Univ, Affiliated Hosp 3, Dept Obstet & Gynecol, Guangzhou, Guangdong, Peoples R China. [Han, Xiang] Peking Univ, Affiliated Hosp 3, Hlth Sci Ctr, Beijing, Peoples R China. [Wahba, Marian] Sinai Grace Hosp, Detroit Med Ctr, Dept Internal Med, Detroit, MI USA. RP Sheng, SJ (reprint author), Wayne State Univ, Sch Med, Dept Pathol, 540 East Canfield St, Detroit, MI 48201 USA. EM ssheng@med.wayne.edu OI Vranic, Semir/0000-0001-9743-7265 FU NIH [CA127735, CA084176, P30 CA022453]; Fund for Cancer Research; Ruth Sager Memorial Fund; Wayne State University Vice President Office for Research; Wayne State University; Karmanos Cancer Institute Applied Genomics Technology Center FX This work was supported by NIH grants (CA127735 and CA084176 to S. Sheng), Fund for Cancer Research (S. Sheng and E. Heath), and the Ruth Sager Memorial Fund (S. Sheng), the Wayne State University Vice President Office for Research (S. Sheng), and NIH grant P30 CA022453 (to Karmanos Cancer Institute with S. Sheng as a program leader). The NIH grant P30 CA022453 also supports the Wayne State University and Karmanos Cancer Institute Applied Genomics Technology Center. NR 55 TC 0 Z9 0 U1 0 U2 0 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 0008-5472 EI 1538-7445 J9 CANCER RES JI Cancer Res. PD FEB 15 PY 2017 VL 77 IS 4 BP 886 EP 896 DI 10.1158/0008-5472.CAN-16-2219 PG 11 WC Oncology SC Oncology GA EK4HN UT WOS:000393887800009 PM 27923833 ER PT J AU Sampson, JN Falk, RT Schairer, C Moore, SC Fuhrman, BJ Dallal, CM Bauer, DC Dorgan, JF Shu, XO Zheng, W Brinton, LA Gail, MH Ziegler, RG Xu, X Hoover, RN Gierach, GL AF Sampson, Joshua N. Falk, Roni T. Schairer, Catherine Moore, Steven C. Fuhrman, Barbara J. Dallal, Cher M. Bauer, Douglas C. Dorgan, Joanne F. Shu, Xiao-Ou Zheng, Wei Brinton, Louise A. Gail, Mitchell H. Ziegler, Regina G. Xu, Xia Hoover, Robert N. Gierach, Gretchen L. TI Association of Estrogen Metabolism with Breast Cancer Risk in Different Cohorts of Postmenopausal Women SO CANCER RESEARCH LA English DT Article ID CHROMATOGRAPHY-MASS SPECTROMETRY; ASSAY REPRODUCIBILITY; ENDOGENOUS ESTROGENS; URINARY ESTROGENS; SERUM ESTROGENS; RECEPTOR; ESTRADIOL; CARCINOGENESIS; MECHANISMS AB Endogenous estradiol and estrone are linked causally to increased risks of breast cancer. In this study, we evaluated multiple competing hypotheses for how metabolism of these parent estrogens may influence risk. Prediagnostic concentrations of estradiol, estrone, and 13 metabolites were measured in 1,298 postmenopausal cases of breast cancer and 1,524 matched controls in four separate patient cohorts. The median time between sample collection and diagnosis was 4.4 to 12.7 years across the cohorts. Estrogen analytes were measured in serum or urine by liquid chromatography-tandem mass spectrometry. Total estrogen levels (summing all 15 estrogens/estrogen metabolites) were associated strongly and positively with breast cancer risk. Normalizing total estrogen levels, we also found that a relative increase in levels of 2-hydroxylation pathway metabolites, or in the ratio of 2-hydroxylation: 16-hydroxylation pathway metabolites, were associated inversely with breast cancer risk. These associations varied by total estrogen levels, with the largest risk reductions occurring in women in the highest tertile. With appropriate validation, these findings suggest opportunities for breast cancer prevention by modifying individual estrogen metabolism profiles through either lifestyle alterations or chemopreventive strategies. (C)2017 AACR. C1 [Sampson, Joshua N.; Falk, Roni T.; Schairer, Catherine; Moore, Steven C.; Brinton, Louise A.; Gail, Mitchell H.; Ziegler, Regina G.; Hoover, Robert N.; Gierach, Gretchen L.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Fuhrman, Barbara J.] Univ Arkansas Med Sci, Fay W Boozman Coll Publ Hlth, Little Rock, AR 72205 USA. [Dallal, Cher M.] Univ Maryland, Sch Publ Hlth, College Pk, MD 20742 USA. [Bauer, Douglas C.] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Dorgan, Joanne F.] Univ Maryland, Sch Med, Baltimore, MD 21201 USA. [Shu, Xiao-Ou; Zheng, Wei] Vanderbilt Univ, Sch Med, Vanderbilt Ingram Canc Ctr, Nashville, TN 37212 USA. [Xu, Xia] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Frederick, MD USA. [Sampson, Joshua N.] 9609 Med Ctr Dr,Room 7-E594, Bethesda, MD 20892 USA. RP Gierach, GL (reprint author), NCI, 9609 Med Ctr Dr,Room 7-E108, Bethesda, MD 20892 USA.; Sampson, JN (reprint author), 9609 Med Ctr Dr,Room 7-E594, Bethesda, MD 20892 USA. EM sampsonjn@mail.nih.gov; gierachg@mail.nih.gov RI Gierach, Gretchen/E-1817-2016 OI Gierach, Gretchen/0000-0002-0165-5522 FU Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute and National Cancer Institute federal funds [HHSN261200800001E]; [R37CA70867]; [UM1CA182910] FX This study was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics of the National Cancer Institute and National Cancer Institute federal funds awarded under Contract No. HHSN261200800001E to SAIC-Frederick, Inc. The Shanghai Women's Health Study is supported by R37CA70867 (W. Zheng) and UM1CA182910 (W. Zheng). NR 27 TC 0 Z9 0 U1 1 U2 1 PU AMER ASSOC CANCER RESEARCH PI PHILADELPHIA PA 615 CHESTNUT ST, 17TH FLOOR, PHILADELPHIA, PA 19106-4404 USA SN 0008-5472 EI 1538-7445 J9 CANCER RES JI Cancer Res. PD FEB 15 PY 2017 VL 77 IS 4 BP 918 EP 925 DI 10.1158/0008-5472.CAN-16-1717 PG 8 WC Oncology SC Oncology GA EK4HN UT WOS:000393887800012 PM 28011624 ER PT J AU Attali, I Tobelaim, WS Persaud, A Motamedchaboki, K Simpson-Lavy, KJ Mashahreh, B Levin-Kravets, O Keren-Kaplan, T Pilzer, I Kupiec, M Wiener, R Wolf, DA Rotin, D Prag, G AF Attali, Ilan Tobelaim, William Sam Persaud, Avinash Motamedchaboki, Khatereh Simpson-Lavy, Kobi J. Mashahreh, Bayan Levin-Kravets, Olga Keren-Kaplan, Tal Pilzer, Inbar Kupiec, Martin Wiener, Reuven Wolf, Dieter A. Rotin, Daniela Prag, Gali TI Ubiquitylation-dependent oligomerization regulates activity of Nedd4 ligases SO EMBO JOURNAL LA English DT Article DE inactivation; Nedd4; oligomerization; Rsp5; ubiquitylation ID E3 UBIQUITIN LIGASES; EPITHELIAL NA+ CHANNEL; POTASSIUM CHANNEL; PROTEIN LIGASES; BINDING SITE; HECT DOMAIN; C2 DOMAIN; DEGRADATION; MONOUBIQUITINATION; FAMILY AB Ubiquitylation controls protein function and degradation. Therefore, ubiquitin ligases need to be tightly controlled. We discovered an evolutionarily conserved allosteric restraint mechanism for Nedd4 ligases and demonstrated its function with diverse substrates: the yeast soluble proteins Rpn10 and Rvs167, and the human receptor tyrosine kinase FGFR1 and cardiac I-KS potassium channel. We found that a potential trimerization interface is structurally blocked by the HECT domain alpha 1-helix, which further undergoes ubiquitylation on a conserved lysine residue. Genetic, bioinformatics, biochemical and biophysical data show that attraction between this alpha 1-conjugated ubiquitin and the HECT ubiquitin-binding patch pulls the alpha 1-helix out of the interface, thereby promoting trimerization. Strikingly, trimerization renders the ligase inactive. Arginine substitution of the ubiquitylated lysine impairs this inactivation mechanism and results in unrestrained FGFR1 ubiquitylation in cells. Similarly, electrophysiological data and TIRF microscopy show that NEDD4 unrestrained mutant constitutively downregulates the I-KS channel, thus confirming the functional importance of E3-ligase autoinhibition. C1 [Attali, Ilan; Levin-Kravets, Olga; Keren-Kaplan, Tal; Pilzer, Inbar; Prag, Gali] Tel Aviv Univ, Dept Biochem & Mol Biol, George S Wise Fac Life Sci, Tel Aviv, Israel. [Tobelaim, William Sam] Sackler Tel Aviv Univ, Dept Physiol & Pharmacol, Tel Aviv, Israel. [Persaud, Avinash; Rotin, Daniela] Univ Toronto, Hosp Sick Children, Cell Biol Program, Toronto, ON, Canada. [Persaud, Avinash; Rotin, Daniela] Univ Toronto, Dept Biochem, Toronto, ON, Canada. [Motamedchaboki, Khatereh; Wolf, Dieter A.] Sanford Burnham Prebys Med Discovery Inst, Tumor Initiat & Maintenance Program, La Jolla, CA USA. [Motamedchaboki, Khatereh; Wolf, Dieter A.] NCI, Ctr Canc, Prote Facil, Sanford Burnham Prebys Med Discovery Inst, La Jolla, CA USA. [Simpson-Lavy, Kobi J.] Tel Aviv Univ, Dept Mol Microbiol & Biotechnol, George S Wise Fac Life Sci, Tel Aviv, Israel. [Mashahreh, Bayan; Wiener, Reuven] Hebrew Univ Jerusalem, Inst Med Res Israel Canada, Dept Biochem & Mol Biol, Hadassah Med Sch, Jerusalem, Israel. [Wolf, Dieter A.] Xiamen Univ, Sch Pharmaceut Sci, Xiamen, Peoples R China. [Prag, Gali] Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel. RP Prag, G (reprint author), Tel Aviv Univ, Dept Biochem & Mol Biol, George S Wise Fac Life Sci, Tel Aviv, Israel.; Prag, G (reprint author), Tel Aviv Univ, Sagol Sch Neurosci, Tel Aviv, Israel. EM prag@post.tau.ac.il NR 69 TC 2 Z9 2 U1 0 U2 0 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0261-4189 EI 1460-2075 J9 EMBO J JI Embo J. PD FEB 15 PY 2017 VL 36 IS 4 BP 425 EP 440 DI 10.15252/embj.201694314 PG 16 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EL2JU UT WOS:000394446700006 PM 28069708 ER PT J AU Stolz, A Putyrski, M Kutle, I Huber, J Wang, CX Major, V Sidhu, SS Youle, RJ Rogov, VV Dotsch, V Ernst, A Dikic, I AF Stolz, Alexandra Putyrski, Mateusz Kutle, Ivana Huber, Jessica Wang, Chunxin Major, Viktoria Sidhu, Sachdev S. Youle, Richard J. Rogov, Vladimir V. Doetsch, Volker Ernst, Andreas Dikic, Ivan TI Fluorescence-based ATG8 sensors monitor localization and function of LC3/GABARAP proteins SO EMBO JOURNAL LA English DT Article DE ATG8; immunofluorescence; LC3; phage display; selective autophagy ID AUTOPHAGOSOME-LYSOSOME FUSION; UBIQUITIN-LIKE PROTEINS; SELECTIVE AUTOPHAGY; LIR MOTIF; PROTEASOMAL DEGRADATION; STRUCTURAL BASIS; PHOSPHORYLATION; RECEPTORS; MITOPHAGY; COMPLEX AB Autophagy is a cellular surveillance pathway that balances metabolic and energy resources and transports specific cargos, including damaged mitochondria, other broken organelles, or pathogens for degradation to the lysosome. Central components of autophagosomal biogenesis are six members of the LC3 and GABARAP family of ubiquitin-like proteins (mATG8s). We used phage display to isolate peptides that possess bona fide LIR (LC3-interacting region) properties and are selective for individual mATG8 isoforms. Sensitivity of the developed sensors was optimized by multiplication, charge distribution, and fusion with a membrane recruitment (FYVE) or an oligomerization (PB1) domain. We demonstrate the use of the engineered peptides as intracellular sensors that recognize specifically GABARAP, GABL1, GABL2, and LC3C, as well as a bispecific sensor for LC3A and LC3B. By using an LC3C-specific sensor, we were able to monitor recruitment of endogenous LC3C to Salmonella during xenophagy, as well as to mitochondria during mitophagy. The sensors are general tools to monitor the fate of mATG8s and will be valuable in decoding the biological functions of the individual LC3/GABARAPs. C1 [Stolz, Alexandra; Putyrski, Mateusz; Major, Viktoria; Ernst, Andreas; Dikic, Ivan] Goethe Univ, Inst Biochem 2, Frankfurt, Germany. [Putyrski, Mateusz; Ernst, Andreas] Project Grp Translat Med & Pharmacol TMP, Fraunhofer Inst Mol Biol & Appl Ecol IME, Frankfurt, Germany. [Kutle, Ivana; Dikic, Ivan] Buchmann Inst Mol Life Sci, Frankfurt, Germany. [Huber, Jessica; Rogov, Vladimir V.; Doetsch, Volker] Goethe Univ, Inst Biophys Chem, Frankfurt, Germany. [Wang, Chunxin; Youle, Richard J.] NINDS, Biochem Sect, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Sidhu, Sachdev S.] Univ Toronto, Donnelly Ctr, Banting & Best Dept Med Res, Toronto, ON, Canada. [Sidhu, Sachdev S.] Univ Toronto, Donnelly Ctr, Dept Mol Genet, Toronto, ON, Canada. RP Ernst, A; Dikic, I (reprint author), Goethe Univ, Inst Biochem 2, Frankfurt, Germany.; Ernst, A (reprint author), Project Grp Translat Med & Pharmacol TMP, Fraunhofer Inst Mol Biol & Appl Ecol IME, Frankfurt, Germany.; Dikic, I (reprint author), Buchmann Inst Mol Life Sci, Frankfurt, Germany. EM ernst@biochem2.de; dikic@biochem2.uni-frankfurt.de NR 61 TC 0 Z9 0 U1 3 U2 3 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0261-4189 EI 1460-2075 J9 EMBO J JI Embo J. PD FEB 15 PY 2017 VL 36 IS 4 BP 549 EP 564 DI 10.15252/embj.201695063 PG 16 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EL2JU UT WOS:000394446700014 PM 28028054 ER PT J AU Livingston, WS Gill, JM Cota, MR Olivera, A O'Keefe, JL Martin, C Latour, LL AF Livingston, Whitney S. Gill, Jessica M. Cota, Martin R. Olivera, Anlys O'Keefe, Jessica L. Martin, Christiana Latour, Lawrence L. TI Differential Gene Expression Associated with Meningeal Injury in Acute Mild Traumatic Brain Injury SO JOURNAL OF NEUROTRAUMA LA English DT Article DE brain trauma; concussion; gene expression; MRI ID GLASGOW COMA SCALE; BARRIER DISRUPTION; APACHE-II; INFLAMMATION; STROKE; MENINGITIS; PREDICTION; OUTCOMES; HUMANS; SCORES AB Injury to the meninges is not uncommon after traumatic brain injury (TBI), yet minimal research has been directed toward understanding the relevant biology. After a concussive event, the meninges are observed to abnormally enhance on post-contrast magnetic resonance imaging (MRI) in some patients, but not all. The aim of this work is to identify genes differentially expressed in patients with meningeal injury. Patients presenting to the emergency room with suspected TBI received a standard research MRI and blood draw within 48 h of injury. Two groups of patients were included: those with and without abnormal enhancement of the meninges on post-contrast MRI, both without other imaging findings. Groups were compared on microarray gene expression in peripheral blood samples using Affymetrix (Santa Clara, CA) and Partek Genomics Suite (Partek, Inc., St. Louis, MO) software (false discovery rate, <0.05). Forty patients were enrolled with a time from injury to MRI/blood draw of 16.8 h (interquartile range, 7.5-24.1). We observed 76 genes to be differentially expressed in patients with meningeal injury compared to those without, such as receptor for Fc fragment of IgA, multiple C2 domains, transmembrane 2, and G-protein-coupled receptor 27, which have been previously associated with initiating inflammatory mediators, phagocytosis, and other regulatory mechanisms. Post-contrast MRI is able to detect meningeal injury and has a unique biological signature observed through gene expression. These findings suggest that an acute inflammatory response occurs in response to injury to the meninges following a concussion. C1 [Livingston, Whitney S.; Gill, Jessica M.; Olivera, Anlys; Martin, Christiana] NINR, NIH, Bethesda, MD 20892 USA. [Gill, Jessica M.; Latour, Lawrence L.] Uniformed Serv Univ Hlth Sci, Ctr Neurosci & Regenerat Med, Bethesda, MD 20814 USA. [Cota, Martin R.; O'Keefe, Jessica L.; Latour, Lawrence L.] NINDS, NIH, 10 Ctr Dr,Bldg 10,B1D733, Bethesda, MD 20892 USA. RP Latour, LL (reprint author), NINDS, NIH, 10 Ctr Dr,Bldg 10,B1D733, Bethesda, MD 20892 USA. EM latourl@ninds.nih.gov FU Department of Defense in the Center for Neuroscience and Regenerative Medicine (CNRM); NINDS; National Institute of Nursing Research (NINR) FX The authors are grateful to the patients and their families, for without them this research would not be possible. The authors acknowledge the staff at Johns Hopkins Suburban Hospital, MedStar Washington Hospital Center, and the National Institute of Neurological Disorders and Stroke (NINDS) Acute Stroke Team for their assistance during this study. Support for this work included Department of Defense in the Center for Neuroscience and Regenerative Medicine (CNRM), the NINDS, and the National Institute of Nursing Research (NINR). NR 28 TC 0 Z9 0 U1 1 U2 1 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 0897-7151 EI 1557-9042 J9 J NEUROTRAUM JI J. Neurotrauma PD FEB 15 PY 2017 VL 34 IS 4 BP 853 EP 860 DI 10.1089/neu.2016.4479 PG 8 WC Critical Care Medicine; Clinical Neurology; Neurosciences SC General & Internal Medicine; Neurosciences & Neurology GA EL0XD UT WOS:000394344200012 PM 27430610 ER PT J AU Johnson, TP Tyagi, R Lee, PR Lee, MH Johnson, KR Kowalak, J Elkahloun, A Medynets, M Hategan, A Kubofcik, J Sejvar, J Ratto, J Bunga, S Makumbi, I Aceng, JR Nutman, TB Dowell, SF Nath, A AF Johnson, Tory P. Tyagi, Richa Lee, Paul R. Lee, Myoung-Hwa Johnson, Kory R. Kowalak, Jeffrey Elkahloun, Abdel Medynets, Marie Hategan, Alina Kubofcik, Joseph Sejvar, James Ratto, Jeffrey Bunga, Sudhir Makumbi, Issa Aceng, Jane R. Nutman, Thomas B. Dowell, Scott F. Nath, Avindra TI Nodding syndrome may be an autoimmune reaction to the parasitic worm Onchocerca volvulus SO SCIENCE TRANSLATIONAL MEDICINE LA English DT Article ID MUSCLE-CELLS; MUNDRI COUNTY; CASE SERIES; EPILEPSY; TANZANIA; UGANDA; ENCEPHALITIS; EXPRESSION; ANTIBODIES; RECEPTOR AB Nodding syndrome is an epileptic disorder of unknown etiology that occurs in children in East Africa. There is an epidemiological association with Onchocerca volvulus, the parasitic worm that causes onchocerciasis (river blindness), but there is limited evidence that the parasite itself is neuroinvasive. We hypothesized that nodding syndrome may be an autoimmune-mediated disease. Using protein chip methodology, we detected autoantibodies to leiomodin-1 more abundantly in patients with nodding syndrome compared to unaffected controls from the same village. Leiomodin-1 autoantibodies were found in both the sera and cerebrospinal fluid of patients with nodding syndrome. Leiomodin-1 was found to be expressed in mature and developing human neurons in vitro and was localized in mouse brain to the CA3 region of the hippocampus, Purkinje cells in the cerebellum, and cortical neurons, structures that also appear to be affected in patients with nodding syndrome. Antibodies targeting leiomodin-1 were neurotoxic in vitro, and leiomodin-1 antibodies purified from patients with nodding syndrome were cross-reactive with O. volvulus antigens. This study provides initial evidence supporting the hypothesis that nodding syndrome is an autoimmune epileptic disorder caused by molecular mimicry with O. volvulus antigens and suggests that patients may benefit from immunomodulatory therapies. C1 [Johnson, Tory P.; Tyagi, Richa; Lee, Paul R.; Lee, Myoung-Hwa; Hategan, Alina; Nath, Avindra] NINDS, Sect Infect Nervous Syst, NIH, Bethesda, MD 20892 USA. [Johnson, Kory R.] NINCDS, Bioinformat Sect, NIH, Bethesda, MD 20892 USA. [Kowalak, Jeffrey] NINCDS, Clin Prote Unit, NIH, Bethesda, MD 20892 USA. [Elkahloun, Abdel] NINCDS, Microarray Core Facil, NIH, Bethesda, MD 20892 USA. [Medynets, Marie] NINCDS, Neural Differentiat Unit, NIH, Bethesda, MD 20892 USA. [Kubofcik, Joseph; Nutman, Thomas B.] NINCDS, Helminth Immunol Sect, Lab Parasit Dis, NIH, Bethesda, MD 20892 USA. [Sejvar, James] Ctr Dis Control & Prevent, Div High Consequence Pathogens & Pathol, Natl Ctr Emerging & Zoonot Infect Dis, Atlanta, GA 30333 USA. [Ratto, Jeffrey; Bunga, Sudhir] Ctr Dis Control & Prevent, Div Global Hlth Protect, Ctr Global Hlth, Atlanta, GA 30333 USA. [Makumbi, Issa; Aceng, Jane R.] Minist Hlth, Kampala, Uganda. [Dowell, Scott F.] Bill & Melinda Gates Fdn, Seattle, WA 98109 USA. RP Nath, A (reprint author), NINDS, Sect Infect Nervous Syst, NIH, Bethesda, MD 20892 USA. EM natha@ninds.nih.gov FU NIH; CDC FX This research was supported by the Intramural Research Programs of the NIH and CDC. The findings and conclusions of this report are those of the authors and do not necessarily represent the official position of the CDC. NR 35 TC 1 Z9 1 U1 1 U2 1 PU AMER ASSOC ADVANCEMENT SCIENCE PI WASHINGTON PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA SN 1946-6234 EI 1946-6242 J9 SCI TRANSL MED JI Sci. Transl. Med. PD FEB 15 PY 2017 VL 9 IS 377 AR eaaf6953 DI 10.1126/scitranslmed.aaf6953 PG 10 WC Cell Biology; Medicine, Research & Experimental SC Cell Biology; Research & Experimental Medicine GA EL2LL UT WOS:000394451100002 ER PT J AU Correa-De-Araujo, R Harris-Love, MO Miljkovic, I Fragala, MS Anthony, BW Manini, TM AF Correa-de-Araujo, Rosaly Harris-Love, Michael O. Miljkovic, Iva Fragala, Maren S. Anthony, Brian W. Manini, Todd M. TI The Need for Standardized Assessment of Muscle Quality in Skeletal Muscle Function Deficit and Other Aging-Related Muscle Dysfunctions: A Symposium Report SO FRONTIERS IN PHYSIOLOGY LA English DT Review DE muscle quality; sarcopenia; muscle strength; muscle power; skeletal muscle function deficit; myosteatosis; imaging ID INTERMUSCULAR ADIPOSE-TISSUE; MAGNETIC-RESONANCE-SPECTROSCOPY; CLINICALLY RELEVANT WEAKNESS; DUCHENNE MUSCULAR-DYSTROPHY; FNIH SARCOPENIA PROJECT; DIFFERENT FIBER TYPES; LOW LEAN MASS; OLDER-ADULTS; INSULIN-RESISTANCE; BODY-COMPOSITION AB A growing body of scientific literature suggests that not only changes in skeletal muscle mass, but also other factors underpinning muscle quality, play a role in the decline in skeletal muscle function and impaired mobility associated with aging. A symposium on muscle quality and the need for standardized assessment was held on April 28, 2016 at the International Conference on Frailty and Sarcopenia Research in Philadelphia, Pennsylvania. The purpose of this symposium was to provide a venue for basic science and clinical researchers and expert clinicians to discuss muscle quality in the context of skeletal muscle function deficit and other aging-related muscle dysfunctions. The present article provides an expanded introduction concerning the emerging definitions of muscle quality and a potential framework for scientific inquiry within the field. Changes in muscle tissue composition, based on excessive levels of inter-and intra-muscular adipose tissue and intramyocellular lipids, have been found to adversely impact metabolism and peak force generation. However, methods to easily and rapidly assess muscle tissue composition in multiple clinical settings and with minimal patient burden are needed. Diagnostic ultrasound and other assessment methods continue to be developed for characterizing muscle pathology, and enhanced sonography using sensors to provide user feedback and improve reliability is currently the subject of ongoing investigation and development. In addition, measures of relative muscle force such as specific force or grip strength adjusted for body size have been proposed as methods to assess changes in muscle quality. Furthermore, performance-based assessments of muscle power via timed tests of function and body size estimates, are associated with lower extremity muscle strength may be responsive to age-related changes in muscle quality. Future aims include reaching consensus on the definition and standardized assessments of muscle quality, and providing recommendations to address critical clinical and technology research gaps within the field. C1 [Correa-de-Araujo, Rosaly] NIA, Div Geriatr & Clin Gerontol, NIH, US Dept HHS, Bethesda, MD 20892 USA. [Harris-Love, Michael O.] Vet Affairs Med Ctr, Clin Res Ctr, Muscle Morphol Mech & Performance Lab, Human Performance Res Unit, Washington, DC 20422 USA. [Harris-Love, Michael O.] Vet Affairs Med Ctr, Geriatr & Extended Care Serv Res Serv, Washington, DC 20422 USA. [Harris-Love, Michael O.] George Washington Univ, Milken Inst Sch Publ Hlth, Dept Exercise & Nutrit Sci, Washington, DC 20052 USA. [Miljkovic, Iva] Univ Pittsburgh, Grad Sch Publ Hlth, Dept Epidemiol, Pittsburgh, PA 15260 USA. [Fragala, Maren S.] Quest Diagnost, Madison, NJ USA. [Anthony, Brian W.] MIT, Lab Mfg & Prod, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Anthony, Brian W.] MIT, Med lect Device Realizat Ctr, 77 Massachusetts Ave, Cambridge, MA 02139 USA. [Manini, Todd M.] Univ Florida, Coll Med, Inst Aging, Dept Aging & Geriatr Res, Gainesville, FL USA. RP Correa-De-Araujo, R (reprint author), NIA, Div Geriatr & Clin Gerontol, NIH, US Dept HHS, Bethesda, MD 20892 USA.; Harris-Love, MO (reprint author), Vet Affairs Med Ctr, Clin Res Ctr, Muscle Morphol Mech & Performance Lab, Human Performance Res Unit, Washington, DC 20422 USA.; Harris-Love, MO (reprint author), Vet Affairs Med Ctr, Geriatr & Extended Care Serv Res Serv, Washington, DC 20422 USA.; Harris-Love, MO (reprint author), George Washington Univ, Milken Inst Sch Publ Hlth, Dept Exercise & Nutrit Sci, Washington, DC 20052 USA. EM rosaly.correa-de-araujo@nih.gov; michael.harris-love@va.gov FU VA Office of Research and Development-Rehabilitation RD Service [1IK2RX001854-01] FX This publication was partially supported by the VA Office of Research and Development-Rehabilitation R&D Service (1IK2RX001854-01). The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 166 TC 0 Z9 0 U1 2 U2 2 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1664-042X J9 FRONT PHYSIOL JI Front. Physiol. PD FEB 15 PY 2017 VL 8 AR 87 DI 10.3389/fphys.2017.00087 PG 19 WC Physiology SC Physiology GA EK6TV UT WOS:000394057900001 PM 28261109 ER PT J AU Adler-Wailes, DC Kramer, JA DePamphilis, ML AF Adler-Wailes, Diane C. Kramer, Joshua A. DePamphilis, Melvin L. TI Geminin Is Essential for Pluripotent Cell Viability During Teratoma Formation, but Not for Differentiated Cell Viability During Teratoma Expansion SO STEM CELLS AND DEVELOPMENT LA English DT Article DE DNA rereplication; embryonal carcinoma cells; embryonic stem cells; geminin; germ cell neoplasia; teratocarcinoma ID EMBRYONIC STEM-CELLS; PRIMORDIAL GERM-CELLS; MOUSE EMBRYOS; BREAST-CANCER; TUMORS; PROLIFERATION; EXPRESSION; REPLICATION; DERIVATION; CULTURE AB Pluripotent embryonic stem cells (ESCs) are unusual in that geminin has been reported to be essential either to prevent differentiation by maintaining expression of pluripotency genes or to prevent DNA rereplication-dependent apoptosis. To distinguish between these two incompatible hypotheses, immune-compromised mice were inoculated subcutaneously with ESCs harboring conditional Gmnn alleles alone or together with a tamoxifen-dependent Cre recombinase gene. Mice were then injected with tamoxifen at various times during which the ESCs proliferated and differentiated into a teratoma. For comparison, the same ESCs were cultured in vitro in the presence of monohydroxytamoxifen. The results revealed that geminin is a haplosufficient gene that is essential for ESC viability before they differentiate into a teratoma, but once a teratoma is established, the differentiated cells can continue to proliferate in the absence of Gmnn alleles, geminin protein, and pluripotent stem cells. Thus, differentiated cells did not require geminin for efficient proliferation within the context of a solid tissue, although they did when teratoma cells were cultured in vitro. These results provide proof-of-principle that preventing geminin function could prevent malignancy in tumors derived from pluripotent cells by selectively eliminating the progenitor cells with little harm to normal cells. C1 [Adler-Wailes, Diane C.; DePamphilis, Melvin L.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bldg 6A,Room 3A15,6 Ctr Dr, Bethesda, MD 20892 USA. [Kramer, Joshua A.] Leidos Biomed Res Inc, Lab Anim Sci Program, Bethesda, MD USA. RP DePamphilis, ML (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bldg 6A,Room 3A15,6 Ctr Dr, Bethesda, MD 20892 USA. EM depamphm@mail.nih.gov FU national institute for Child Health and Human Development; National Cancer Institute, National Institutes of Health [HHSN261200800001E] FX this project was supported in part by the national institute for Child Health and Human Development and, in part, by the National Cancer Institute, National Institutes of Health, under contract no. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. The Scientific Director, NICHD/NIH, approved this research for publication (BMGR/SEDR-MD/ MD-16-07729-R). NR 67 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1547-3287 EI 1557-8534 J9 STEM CELLS DEV JI Stem Cells Dev. PD FEB 15 PY 2017 VL 26 IS 4 BP 285 EP 302 DI 10.1089/scd.2016.0260 PG 18 WC Cell & Tissue Engineering; Hematology; Medicine, Research & Experimental; Transplantation SC Cell Biology; Hematology; Research & Experimental Medicine; Transplantation GA EK0XJ UT WOS:000393650100007 PM 27821018 ER PT J AU Bodelon, C Oh, H Chatterjee, N Garcia-Closas, M Palakal, M Sherman, ME Pfeiffer, RM Geller, BM Vacek, PM Weaver, DL Chicoine, RE Papathomas, D Xiang, J Patel, DA Khodr, ZG Linville, L Clare, SE Visscher, DW Mies, C Hewitt, SM Brinton, LA Storniolo, AM He, CY Chanock, SJ Gierach, GL Figueroa, JD AF Bodelon, Clara Oh, Hannah Chatterjee, Nilanjan Garcia-Closas, Montserrat Palakal, Maya Sherman, Mark E. Pfeiffer, Ruth M. Geller, Berta M. Vacek, Pamela M. Weaver, Donald L. Chicoine, Rachael E. Papathomas, Daphne Xiang, Jackie Patel, Deesha A. Khodr, Zeina G. Linville, Laura Clare, Susan E. Visscher, Daniel W. Mies, Carolyn Hewitt, Stephen M. Brinton, Louise A. Storniolo, Anna Maria He, Chunyan Chanock, Stephen J. Gierach, Gretchen L. Figueroa, Jonine D. TI Association between breast cancer genetic susceptibility variants and terminal duct lobular unit involution of the breast SO INTERNATIONAL JOURNAL OF CANCER LA English DT Article DE genetic susceptibility; terminal duct lobular unit; involution; breast cancer ID GENOME-WIDE ASSOCIATION; MAMMOGRAPHIC DENSITY; COMMON VARIANTS; CONFER SUSCEPTIBILITY; 14Q24.1 RAD51L1; RISK-FACTORS; IDENTIFIES 2; LOCI; TISSUE; MUTATION AB Terminal duct lobular units (TDLUs) are the predominant source of future breast cancers, and lack of TDLU involution (higher TDLU counts, higher acini count per TDLU and the product of the two) is a breast cancer risk factor. Numerous breast cancer susceptibility single nucleotide polymorphisms (SNPs) have been identified, but whether they are associated with TDLU involution is unknown. In a pooled analysis of 872 women from two studies, we investigated 62 established breast cancer SNPs and relationships with TDLU involution. Poisson regression models with robust variance were used to calculate adjusted perallele relative risks (with the non-breast cancer risk allele as the referent) and 95% confidence intervals between TDLU measures and each SNP. All statistical tests were two-sided; P < 0.05 was considered statistically significant. Overall, 36 SNPs (58.1%) were related to higher TDLU counts although this was not statistically significant (p = 0.25). Six of the 62 SNPs (9.7%) were nominally associated with at least one TDLU measure: rs616488 (PEX14), rs11242675 (FOXQ1) and rs6001930 (MKL1) were associated with higher TDLU count (p = 0.047, 0.045 and 0.031, respectively); rs1353747 (PDE4D) and rs6472903 (8q21.11) were associated with higher acini count per TDLU (p = 0.007 and 0.027, respectively); and rs1353747 (PDE4D) and rs204247 (RANBP9) were associated with the product of TDLU and acini counts (p = 0.024 and 0.017, respectively). Our findings suggest breast cancer SNPs may not strongly influence TDLU involution. Agnostic genome-wide association studies of TDLU involution may provide new insights on its biologic underpinnings and breast cancer susceptibility. C1 [Bodelon, Clara; Oh, Hannah; Chatterjee, Nilanjan; Garcia-Closas, Montserrat; Palakal, Maya; Sherman, Mark E.; Pfeiffer, Ruth M.; Papathomas, Daphne; Xiang, Jackie; Patel, Deesha A.; Khodr, Zeina G.; Linville, Laura; Brinton, Louise A.; Chanock, Stephen J.; Gierach, Gretchen L.; Figueroa, Jonine D.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Sherman, Mark E.] NCI, Canc Prevent Div, Bethesda, MD 20892 USA. [Geller, Berta M.; Vacek, Pamela M.; Weaver, Donald L.; Chicoine, Rachael E.] Univ Vermont, Coll Med, Dept Biostat, Burlington, VT USA. [Geller, Berta M.; Vacek, Pamela M.; Weaver, Donald L.; Chicoine, Rachael E.] Vermont Canc Ctr, Burlington, VT USA. [Clare, Susan E.] Northwestern Univ, Dept Surg, Feinberg Sch Med, Chicago, IL 60611 USA. [Visscher, Daniel W.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN USA. [Mies, Carolyn] Univ Penn, Dept Pathol & Lab Med, Philadelphia, PA USA. [Hewitt, Stephen M.] NCI, Pathol Lab, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. [Storniolo, Anna Maria] Indiana Univ, Simon Canc Ctr, Susan G Komen Tissue Bank, Indianapolis, IN 46204 USA. [He, Chunyan] Indiana Univ, Dept Epidemiol, Richard M Fairbanks Sch Publ Hlth, Indianapolis, IN 46204 USA. [Figueroa, Jonine D.] Univ Edinburgh, Usher Inst Populat Hlth Sci & Informat, Edinburgh EH8 9YL, Midlothian, Scotland. [Figueroa, Jonine D.] Univ Edinburgh, Edinburgh Canc Res Ctr, Edinburgh EH8 9YL, Midlothian, Scotland. RP Bodelon, C (reprint author), Div Canc Epidemiol & Genet, 9609 Med Ctr Dr,Rm 7-E236, Bethesda, MD 20892 USA. EM clara.bodelon@nih.gov RI Gierach, Gretchen/E-1817-2016 OI Gierach, Gretchen/0000-0002-0165-5522 FU National Cancer Institute FX Grant sponsor: Intramural Research Program of the National Cancer Institute NR 44 TC 0 Z9 0 U1 8 U2 8 PU WILEY-BLACKWELL PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0020-7136 EI 1097-0215 J9 INT J CANCER JI Int. J. Cancer PD FEB 15 PY 2017 VL 140 IS 4 BP 825 EP 832 DI 10.1002/ijc.30512 PG 8 WC Oncology SC Oncology GA EG0FA UT WOS:000390705400009 PM 27859137 ER PT J AU Moran, LJ Fraser, LM Sundernathan, T Deussen, AR Louise, J Yelland, LN Grivell, RM Macpherson, A Gillman, MW Robinson, JS Owens, JA Dodd, JM AF Moran, Lisa J. Fraser, Louise M. Sundernathan, Tulika Deussen, Andrea R. Louise, Jennie Yelland, Lisa N. Grivell, Rosalie M. Macpherson, Anne Gillman, Matthew W. Robinson, Jeffrey S. Owens, Julie A. Dodd, Jodie M. TI The effect of an antenatal lifestyle intervention in overweight and obese women on circulating cardiometabolic and inflammatory biomarkers: secondary analyses from the LIMIT randomised trial SO BMC MEDICINE LA English DT Article DE Pregnancy; Overweight and obesity; Dietary and lifestyle intervention; Randomised trial; Cardiometabolic markers; Inflammatory markers ID GESTATIONAL DIABETES-MELLITUS; C-REACTIVE PROTEIN; BODY-MASS INDEX; NECROSIS-FACTOR-ALPHA; WEIGHT-GAIN; PREGNANT-WOMEN; INSULIN-RESISTANCE; HEALTH OUTCOMES; CARDIOVASCULAR-DISEASE; METABOLIC SYNDROME AB Background: Maternal overweight and obesity during pregnancy is associated with insulin resistance, hyperglycaemia, hyperlipidaemia and a low-grade state of chronic inflammation. The aim of this pre-specified analysis of secondary outcome measures was to evaluate the effect of providing antenatal dietary and lifestyle advice on cardiometabolic and inflammatory biomarkers. Methods: We conducted a multicentre trial in which pregnant women who were overweight or obese were randomised to receive either Lifestyle Advice or Standard Care. We report a range of pre-specified secondary maternal and newborn cardiometabolic and inflammatory biomarker outcomes. Maternal whole venous blood was collected at trial entry (mean 14 weeks gestation; non-fasting), at 28 weeks gestation (fasting), and at 36 weeks gestation (non-fasting). Cord blood was collected after birth and prior to the delivery of the placenta. A range of cardiometabolic and inflammatory markers were analysed (total cholesterol, triglycerides, non-esterified fatty acids, high-density lipoprotein cholesterol, insulin, glucose, leptin, adiponectin, C-reactive protein, granulocyte macrophage-colony stimulating factor, interferon gamma, TNF-alpha, and interleukins 1 beta, 2, 4, 5, 6, 8, and 10). Participants were analysed in the groups to which they were randomised, and were included in the analyses if they had a measure at any time point. Results: One or more biological specimens were available from 1951 women (989 Lifestyle Advice and 962 Standard Care), with cord blood from 1174 infants (596 Lifestyle Advice and 578 Standard Care). There were no statistically significant differences in mean cardiometabolic and inflammatory marker concentrations across pregnancy and in infant cord blood between treatment groups. Estimated treatment group differences were close to zero, with 95% confidence intervals spanning a range of differences that were short of clinical relevance. There was no evidence to suggest that the intervention effect was modified by mate Conclusions: Despite our findings, it will be worth considering potential relationships between cardiometabolic and inflammatory markers and clinical outcomes, including longer-term infant health and adiposity. C1 [Moran, Lisa J.; Fraser, Louise M.; Sundernathan, Tulika; Deussen, Andrea R.; Louise, Jennie; Yelland, Lisa N.; Grivell, Rosalie M.; Macpherson, Anne; Robinson, Jeffrey S.; Owens, Julie A.; Dodd, Jodie M.] Univ Adelaide, Robinson Res Inst & Discipline Obstet & Gynaecol, Adelaide, SA 5005, Australia. [Moran, Lisa J.] Monash Univ, Monash Ctr Hlth Res Implementat, Clayton, Vic, Australia. [Louise, Jennie; Yelland, Lisa N.] Univ Adelaide, Sch Populat Hlth, Adelaide, SA, Australia. [Yelland, Lisa N.] South Australian Hlth & Med Res Inst, Adelaide, SA, Australia. [Grivell, Rosalie M.] Flinders Univ S Australia, Dept Obstet & Gynaecol, Bedford Pk, SA, Australia. [Gillman, Matthew W.] Harvard Med Sch, Harvard Pilgrim Hlth Care Inst, Dept Populat Med, Obes Prevent Program, Boston, MA USA. [Gillman, Matthew W.] NIH, Environm Influences Child Hlth Outcomes ECHO, Rockville, MD USA. [Dodd, Jodie M.] Womens & Childrens Hosp, Dept Perinatal Med, Womens & Babies Div, Adelaide, SA, Australia. RP Dodd, JM (reprint author), Univ Adelaide, Robinson Res Inst & Discipline Obstet & Gynaecol, Adelaide, SA 5005, Australia.; Dodd, JM (reprint author), Womens & Childrens Hosp, Dept Perinatal Med, Womens & Babies Div, Adelaide, SA, Australia. EM jodie.dodd@adelaide.edu.au FU National Health and Medical Research Council (NHMRC), Australia [519240]; Diabetes Australia Research Trust; US National Institute of Health (NIH) [R01 HL094235-01]; NHMRC Practitioner Fellowship [627005]; NHMRC Early Career Fellowship [1052388, 1073514]; South Australian Cardiovascular Research Development Program (SACVRDP) Fellowship [AC11S374]; National Heart Foundation of Australia; South Australian Department of Health; South Australian Health and Medical Research Institute FX This project was funded by a 4-year project grant from the National Health and Medical Research Council (NHMRC), Australia (ID 519240); Diabetes Australia Research Trust; and US National Institute of Health (NIH) (R01 HL094235-01). JM Dodd is supported through a NHMRC Practitioner Fellowship (ID 627005). LN Yelland is supported through a NHMRC Early Career Fellowship (ID 1052388). RM Grivell is supported through a NHMRC Early Career Fellowship (ID 1073514). LJ Moran is supported through a South Australian Cardiovascular Research Development Program (SACVRDP) Fellowship (AC11S374); a program collaboratively funded by the National Heart Foundation of Australia, the South Australian Department of Health, and the South Australian Health and Medical Research Institute. Infrastructure support was provided by The University of Adelaide, the Women's and Children's Hospital, Flinders Medical Centre, and the Lyell McEwin Hospital, Adelaide. NR 51 TC 0 Z9 0 U1 1 U2 1 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1741-7015 J9 BMC MED JI BMC Med. PD FEB 14 PY 2017 VL 15 AR 32 DI 10.1186/s12916-017-0790-z PG 12 WC Medicine, General & Internal SC General & Internal Medicine GA EN3UD UT WOS:000395932500001 PM 28193219 ER PT J AU Lacuey, N Zonjy, B Londono, L Lhatoo, SD AF Lacuey, Nuria Zonjy, Bilal Londono, Luisa Lhatoo, Samden D. TI Amygdala and hippocampus are symptomatogenic zones for central apneic seizures SO NEUROLOGY LA English DT Article ID EPILEPSY; STIMULATION; ONSET; DEATH AB Objective: To identify limbic sites of respiratory control in the human brain, and by extension, the symptomatogenic zone for central apnea. Methods: We used direct stimulation of anatomically, precisely placed stereotactic EEG electrodes to analyze breathing responses. We prospectively studied 3 patients who were explored with stereotactically implanted depth electrodes. The amygdala and hippocampus, as well as extralimbic sites (orbitofrontal, temporal tip, and temporal neocortex), were investigated. Results: Individual stimulation of the amygdala and hippocampal head consistently elicited central apnea in the expiratory phase, as did exquisitely focal hippocampal seizures. Conclusions: These findings confirm that hippocampus and amygdala are limbic breathing control sites in humans, as well as the symptomatogenic zone for central apneic seizures. C1 [Lacuey, Nuria; Zonjy, Bilal; Londono, Luisa; Lhatoo, Samden D.] UH Cleveland Med Ctr, Epilepsy Ctr, Cleveland, OH 44106 USA. [Lacuey, Nuria] Vall dHebron Univ Hosp, Dept Neurol, Barcelona, Spain. [Lacuey, Nuria] Univ Autonoma Barcelona, Dept Med, E-08193 Barcelona, Spain. [Lhatoo, Samden D.] NINDS, Ctr SUDEP Res CSR, Cleveland, OH USA. RP Lacuey, N (reprint author), UH Cleveland Med Ctr, Epilepsy Ctr, Cleveland, OH 44106 USA.; Lacuey, N (reprint author), Vall dHebron Univ Hosp, Dept Neurol, Barcelona, Spain.; Lacuey, N (reprint author), Univ Autonoma Barcelona, Dept Med, E-08193 Barcelona, Spain. EM nuria.lacuey@uhhospitals.org FU Universitat Autonoma de Barcelona, Doctorate thesis in Medicine FX This work was supported in part by the Universitat Autonoma de Barcelona as part of a Doctorate thesis in Medicine. NR 10 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0028-3878 EI 1526-632X J9 NEUROLOGY JI Neurology PD FEB 14 PY 2017 VL 88 IS 7 BP 701 EP 705 DI 10.1212/WNL.0000000000003613 PG 5 WC Clinical Neurology SC Neurosciences & Neurology GA EP4IP UT WOS:000397344500018 PM 28087822 ER PT J AU Introne, WJ Westbroek, W Groden, CA Bhambhani, V Golas, GA Baker, EH Lehky, TJ Snow, J Ziegler, SG Malicdan, MCV Adams, DR Dorward, HM Hess, RA Huizing, M Gahl, WA Toro, C AF Introne, Wendy J. Westbroek, Wendy Groden, Catherine A. Bhambhani, Vikas Golas, Gretchen A. Baker, Eva H. Lehky, Tanya J. Snow, Joseph Ziegler, Shira G. Malicdan, May Christine V. Adams, David R. Dorward, Heidi M. Hess, Richard A. Huizing, Marjan Gahl, William A. Toro, Camilo TI Neurologic involvement in patients with atypical Chediak-Higashi disease SO NEUROLOGY LA English DT Article ID PARKINSONIAN-SYNDROME; CLINICAL PHENOTYPE; LYST; IDENTIFICATION; LYSOSOMES; MUTATIONS; GENOTYPE; DOMAIN; CELLS; BEIGE AB Objective: To delineate the developmental and progressive neurodegenerative features in 9 young adults with the atypical form of Chediak-Higashi disease (CHD) enrolled in a natural history study. Methods: Patients with atypical clinical features, but diagnostically confirmed CHD by standard evaluation of blood smears and molecular genotyping, underwent complete neurologic evaluation, MRI of the brain, electrophysiologic examination, and neuropsychological testing. Fibroblasts were collected to investigate the cellular phenotype and correlation with the clinical presentation. Results: In 9 mildly affected patients with CHD, we documented learning and behavioral difficulties along with developmental structural abnormalities of the cerebellum and posterior fossa, which are apparent early in childhood. A range of progressive neurologic problems emerge in early adulthood, including cerebellar deficits, polyneuropathies, spasticity, cognitive decline, and parkinsonism. Conclusions: Patients with undiagnosed atypical CHD manifesting some of these wide-ranging yet nonspecific neurologic complaints may reside in general and specialty neurology clinics. The absence of the typical bleeding or infectious diathesis in mildly affected patients with CHD renders them difficult to diagnose. Identification of these individuals is important not only for close surveillance of potential CHD-related systemic complications but also for a full understanding of the natural history of CHD and the potential role of the disease-causing protein, LYST, to the pathophysiology of other neurodevelopmental and neurodegenerative disorders. C1 [Introne, Wendy J.; Groden, Catherine A.; Bhambhani, Vikas; Golas, Gretchen A.; Gahl, William A.; Toro, Camilo] Childrens Hosp & Clin Minnesota, Dept Med Genet, Clin Director, Minneapolis, MN USA. [Westbroek, Wendy; Ziegler, Shira G.; Malicdan, May Christine V.; Adams, David R.; Dorward, Heidi M.; Hess, Richard A.; Huizing, Marjan; Gahl, William A.] Childrens Hosp & Clin Minnesota, Human Biochem Genet Sect, Med Genet Branch, Dept Med Genet, Minneapolis, MN USA. [Baker, Eva H.] Childrens Hosp & Clin Minnesota, Human Biochem Genet Sect, Ctr Clin, Natl Human Genome Res Inst,Dept Radiol & Imaging, Minneapolis, MN USA. [Lehky, Tanya J.] Childrens Hosp & Clin Minnesota, Human Biochem Genet Sect, Elect Sect Off Clin Director, Natl Inst Neurol Disorders & Stroke, Minneapolis, MN USA. [Snow, Joseph] Childrens Hosp & Clin Minnesota, Human Biochem Genet Sect, Clin Director, Natl Inst Mental Hlth, Minneapolis, MN USA. [Bhambhani, Vikas] Childrens Hosp & Clin Minnesota, Human Biochem Genet Sect, Natl Inst Hlth, Metab & Clin Geneticist, Minneapolis, MN USA. RP Introne, WJ (reprint author), Childrens Hosp & Clin Minnesota, Dept Med Genet, Clin Director, Minneapolis, MN USA. EM wintrone@mail.nih.gov FU Intramural Research Programs of the National Human Genome Research Institute; National Institute of Neurological Disorders and Stroke; the Hatfield Clinical Center, NIH, Bethesda, MD FX Supported by the Intramural Research Programs of the National Human Genome Research Institute, the National Institute of Neurological Disorders and Stroke, and the Hatfield Clinical Center, NIH, Bethesda, MD. NR 32 TC 2 Z9 2 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0028-3878 EI 1526-632X J9 NEUROLOGY JI Neurology PD FEB 14 PY 2017 VL 88 IS 7 BP E57 EP E65 DI 10.1212/WNL.0000000000003622 PG 9 WC Clinical Neurology SC Neurosciences & Neurology GA EP4IP UT WOS:000397344500004 PM 28193763 ER PT J AU Dall, GV Vieusseux, JL Korach, KS Arao, Y Hewitt, SC Hamilton, KJ Dzierzak, E Boon, WC Simpson, ER Ramsay, RG Stein, T Morris, JS Anderson, RL Risbridger, GP Britt, KL AF Dall, Genevieve V. Vieusseux, Jessica L. Korach, Kenneth S. Arao, Yukitomo Hewitt, Sylvia C. Hamilton, Katherine J. Dzierzak, Elaine Boon, Wah Chin Simpson, Evan R. Ramsay, Robert G. Stein, Torsten Morris, Joanne S. Anderson, Robin L. Risbridger, Gail P. Britt, Kara L. TI SCA-1 Labels a Subset of Estrogen-Responsive Bipotential Repopulating Cells within the CD24(+) CD49f(hi) Mammary Stem Cell-Enriched Compartment SO STEM CELL REPORTS LA English DT Article ID IN-VIVO; BREAST-CANCER; SELF-RENEWAL; GLAND; MOUSE; SUSCEPTIBILITY; DIFFERENTIATION; CARCINOGENESIS; EXPRESSION; PREGNANCY AB Estrogen stimulates breast development during puberty and mammary tumors in adulthood through estrogen receptor-alpha (ER alpha). These effects are proposed to occur via ER alpha(+) luminal cells and not the mammary stem cells (MaSCs) that are ER alpha(neg). Since ER alpha(+) luminal cells express stem cell antigen-1 (SCA-1), we sought to determine if SCA-1 could define an ER alpha(+) subset of EpCAM(+)/CD24(+)/CD49f(hi) MaSCs. We show that the MaSC population has a distinct SCA-1(+) population that is abundant in pre-pubertal mammary glands. The SCA-1(+) MaSCs have less stem cell markers and less in vivo repopulating activity than their SCA-1(neg) counterparts. However, they express ERa and specifically enter the cell cycle at puberty. Using estrogen-deficient aromatase knockouts (ArKO), we showed that the SCA-1(+) MaSC could be directly modulated by estrogen supplementation. Thus, SCA-1 enriches for an ER alpha(+), estrogen-sensitive subpopulation within the CD24(+)/CD49f(hi) MaSC population that may be responsible for the hormonal sensitivity of the developing mammary gland. C1 [Dall, Genevieve V.; Vieusseux, Jessica L.; Britt, Kara L.] Peter MacCallum Canc Ctr, Canc Genet Lab, 305 Grattan St, Melbourne, Vic 3000, Australia. [Dall, Genevieve V.; Risbridger, Gail P.; Britt, Kara L.] Monash Univ, Dept Anat & Dev Biol, Clayton, Vic 3800, Australia. [Korach, Kenneth S.; Arao, Yukitomo; Hewitt, Sylvia C.; Hamilton, Katherine J.] NIEHS, Reprod & Dev Biol Lab, NIH, Res Triangle Pk, NC 27709 USA. [Dzierzak, Elaine] Univ Edinburgh, MRC, Ctr Inflammat Res, Queens Med Res Inst, Edinburgh EH16 4TJ, Midlothian, Scotland. [Boon, Wah Chin] Univ Melbourne, Florey Inst Neurosci & Mental Hlth, Parkville, Vic 3010, Australia. [Simpson, Evan R.] Hudson Inst Med Res, Clayton, Vic 3168, Australia. [Ramsay, Robert G.] Peter MacCallum Canc Ctr, Differentiat & Transcript Lab, 305 Grattan St, Melbourne, Vic 3000, Australia. [Stein, Torsten] Univ Glasgow, Inst Canc Sci, Coll MVLS, Glasgow G12 8QQ, Lanark, Scotland. [Morris, Joanne S.] Univ Glasgow, Sch Vet Med, Coll MVLS, Glasgow G61 1QH, Lanark, Scotland. [Anderson, Robin L.; Britt, Kara L.] Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic 3010, Australia. [Anderson, Robin L.] La Trobe Univ, Bundoora, Vic 3083, Australia. RP Britt, KL (reprint author), Peter MacCallum Canc Ctr, Canc Genet Lab, 305 Grattan St, Melbourne, Vic 3000, Australia.; Britt, KL (reprint author), Monash Univ, Dept Anat & Dev Biol, Clayton, Vic 3800, Australia.; Britt, KL (reprint author), Univ Melbourne, Sir Peter MacCallum Dept Oncol, Parkville, Vic 3010, Australia. EM kara.britt@petermac.org RI Risbridger, Gail/B-8655-2008 OI Risbridger, Gail/0000-0003-3089-4028 FU Australian Postgradutate Scholarship; NBCF ECR Fellowship [ECF 11-01]; NHMRC New Investigator grant [APP1044661]; VCA ECR fellowship [ECSG08_07]; NBCF Senior Fellowship; Division of Intramural Research/NIEHS [1ZIAESO70065]; NHMRC fellowship FX G.D., Australian Postgradutate Scholarship; K.B., NBCF ECR Fellowship (ECF 11-01), NHMRC New Investigator grant (APP1044661), and VCA ECR fellowship (ECSG08_07); R.L.A., NBCF Senior Fellowship; K.S. K., Division of Intramural Research/NIEHS [1ZIAESO70065]; G.P.R., NHMRC fellowship. We thank Dr. Carl Walkey (St Vincents Institute) and A/Prof Steve Lane (QIMR Berghofer) for their helpful discussions about cell-cycle-specific staining, the flow core facility at Monash University, and the FACS facility at Peter Mac as well as Monash Micro Imaging Facility and Peter Mac microscopy groups for provision of instrumentation, training, and general support. NR 49 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2213-6711 J9 STEM CELL REP JI Stem Cell Rep. PD FEB 14 PY 2017 VL 8 IS 2 BP 417 EP 431 DI 10.1016/j.stemcr.2016.12.022 PG 15 WC Cell & Tissue Engineering; Cell Biology SC Cell Biology GA EP0TH UT WOS:000397099100021 PM 28132885 ER PT J AU Brait, M Izumchenko, E Kagohara, LT Long, S Wysocki, PT Faherty, B Fertig, EJ Khor, TO Bruckheimer, E Baia, G Ciznadija, D Sloma, I Ben-Zvi, I Paz, K Sidransky, D AF Brait, Mariana Izumchenko, Evgeny Kagohara, Luciane T. Long, Samuel Wysocki, Piotr T. Faherty, Brian Fertig, Elana J. Khor, Tin Oo Bruckheimer, Elizabeth Baia, Gilson Ciznadija, Daniel Sloma, Ido Ben-Zvi, Ido Paz, Keren Sidransky, David TI Comparative mutational landscape analysis of patient-derived tumour xenografts SO BRITISH JOURNAL OF CANCER LA English DT Article DE mutation; ddPCR; NGS; PDX; WES; mutation detection techniques; qPCR ID REAL-TIME PCR; PANCREATIC-CANCER; COLORECTAL-CANCER; SOMATIC MUTATIONS; DIAGNOSTIC-TOOL; KRAS; EGFR; BRAF; IDENTIFICATION; GENOME AB Background: Screening of patients for cancer-driving mutations is now used for cancer prognosis, remission scoring and treatment selection. Although recently emerged targeted next-generation sequencing-based approaches offer promising diagnostic capabilities, there are still limitations. There is a pressing clinical need for a well-validated, rapid, cost-effective mutation profiling system in patient specimens. Given their speed and cost-effectiveness, quantitative PCR mutation detection techniques are well suited for the clinical environment. The qBiomarker mutation PCR array has high sensitivity and shorter turnaround times compared with other methods. However, a direct comparison with existing viable alternatives are required to assess its true potential and limitations. Methods: In this study, we evaluated a panel of 117 patient-derived tumour xenografts by the qBiomarker array and compared with other methods for mutation detection, including Ion AmpliSeq sequencing, whole-exome sequencing and droplet digital PCR. Results: Our broad analysis demonstrates that the qBiomarker's performance is on par with that of other labour-intensive and expensive methods of cancer mutation detection of frequently altered cancer-associated genes, and provides a foundation for supporting its consideration as an option for molecular diagnostics. Conclusions: This large-scale direct comparison and validation of currently available mutation detection approaches is extremely relevant for the current scenario of precision medicine and will lead to informed choice of screening methodologies, especially in lower budget conditions or time frame limitations. C1 [Brait, Mariana; Izumchenko, Evgeny; Kagohara, Luciane T.; Wysocki, Piotr T.; Faherty, Brian; Sidransky, David] Johns Hopkins Univ, Dept Otolaryngol & Head & Neck Surg, Sch Med, Baltimore, MD 21231 USA. [Long, Samuel] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, AIDS & Canc Virus Program, Frederick, MD 21702 USA. [Fertig, Elana J.; Sidransky, David] Johns Hopkins Univ, Dept Oncol, Sch Med, Dept Oncol, Baltimore, MD 21231 USA. [Khor, Tin Oo; Bruckheimer, Elizabeth; Baia, Gilson; Ciznadija, Daniel; Sloma, Ido; Ben-Zvi, Ido; Paz, Keren] Champ Oncol, Baltimore, MD 21205 USA. RP Sidransky, D (reprint author), Johns Hopkins Univ, Dept Otolaryngol & Head & Neck Surg, Sch Med, Baltimore, MD 21231 USA.; Sidransky, D (reprint author), Johns Hopkins Univ, Dept Oncol, Sch Med, Dept Oncol, Baltimore, MD 21231 USA. EM dsidrans@jhmi.edu FU CCR NIH HHS [HHSN261200800001C]; NCI NIH HHS [HHSN261200800001E] NR 49 TC 0 Z9 0 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0007-0920 EI 1532-1827 J9 BRIT J CANCER JI Br. J. Cancer PD FEB 14 PY 2017 VL 116 IS 4 BP 515 EP 523 DI 10.1038/bjc.2016.450 PG 9 WC Oncology SC Oncology GA EL2JT UT WOS:000394446600013 PM 28118322 ER PT J AU Kar, SP Adler, E Tyrer, J Hazelett, D Anton-Culver, H Bandera, EV Beckmann, MW Berchuck, A Bogdanova, N Brinton, L Butzow, R Campbell, I Carty, K Chang-Claude, J Cook, LS Cramer, DW Cunningham, JM Dansonka-Mieszkowska, A Doherty, JA Dork, T Durst, M Eccles, D Fasching, PA Flanagan, J Gentry-Maharaj, A Glasspool, R Goode, EL Goodman, MT Gronwald, J Heitz, F Hildebrandt, MAT Hogdall, E Hogdall, CK Huntsman, DG Jensen, A Karlan, BY Kelemen, LE Kiemeney, LA Kjaer, SK Kupryjanczyk, J Lambrechts, D Levine, DA Li, QY Lissowska, J Lu, KRH Lubinski, J Massuger, LFAG McGuire, V McNeish, I Menon, U Modugno, F Monteiro, AN Moysich, KB Ness, RB Nevanlinna, H Paul, J Pearce, CL Pejovic, T Permuth, JB Phelan, C Pike, MC Poole, EM Ramus, SJ Risch, HA Rossing, MA Salvesen, HB Schildkraut, JM Sellers, TA Sherman, M Siddiqui, N Sieh, W Song, HL Southey, M Terry, KL Tworoger, SS Walsh, C Wentzensen, N Whittemore, AS Wu, ANH Yang, H Zheng, W Ziogas, A Freedman, ML Gayther, SA Pharoah, PDP Lawrenson, K AF Kar, Siddhartha P. Adler, Emily Tyrer, Jonathan Hazelett, Dennis Anton-Culver, Hoda Bandera, Elisa V. Beckmann, Matthias W. Berchuck, Andrew Bogdanova, Natalia Brinton, Louise Butzow, Ralf Campbell, Ian Carty, Karen Chang-Claude, Jenny Cook, Linda S. Cramer, Daniel W. Cunningham, Julie M. Dansonka-Mieszkowska, Agnieszka Doherty, Jennifer Anne Doerk, Thilo Duerst, Matthias Eccles, Diana Fasching, Peter A. Flanagan, James Gentry-Maharaj, Aleksandra Glasspool, Rosalind Goode, Ellen L. Goodman, Marc T. Gronwald, Jacek Heitz, Florian Hildebrandt, Michelle A. T. Hogdall, Estrid Hogdall, Claus K. Huntsman, David G. Jensen, Allan Karlan, Beth Y. Kelemen, Linda E. Kiemeney, Lambertus A. Kjaer, Susanne K. Kupryjanczyk, Jolanta Lambrechts, Diether Levine, Douglas A. Li, Qiyuan Lissowska, Jolanta Lu, Karen H. Lubinski, Jan Massuger, Leon F. A. G. McGuire, Valerie McNeish, Iain Menon, Usha Modugno, Francesmary Monteiro, Alvaro N. Moysich, Kirsten B. Ness, Roberta B. Nevanlinna, Heli Paul, James Pearce, Celeste L. Pejovic, Tanja Permuth, Jennifer B. Phelan, Catherine Pike, Malcolm C. Poole, Elizabeth M. Ramus, Susan J. Risch, Harvey A. Rossing, Mary Anne Salvesen, Helga B. Schildkraut, Joellen M. Sellers, Thomas A. Sherman, Mark Siddiqui, Nadeem Sieh, Weiva Song, Honglin Southey, Melissa Terry, Kathryn L. Tworoger, Shelley S. Walsh, Christine Wentzensen, Nicolas Whittemore, Alice S. Wu, Anna H. Yang, Hannah Zheng, Wei Ziogas, Argyrios Freedman, Matthew L. Gayther, Simon A. Pharoah, Paul D. P. Lawrenson, Kate TI Enrichment of putative PAX8 target genes at serous epithelial ovarian cancer susceptibility loci SO BRITISH JOURNAL OF CANCER LA English DT Article DE serous ovarian cancer; transcription factor; PAX8; genome-wide association study; gene set enrichment analysis ID GENOME-WIDE ASSOCIATION; FUNCTIONAL-CHARACTERIZATION; RISK LOCI; EXPRESSION; GWAS; IDENTIFICATION; PROSTATE; BREAST; CELLS; VARIANTS AB Background: Genome-wide association studies (GWAS) have identified 18 loci associated with serous ovarian cancer (SOC) susceptibility but the biological mechanisms driving these findings remain poorly characterised. Germline cancer risk loci may be enriched for target genes of transcription factors (TFs) critical to somatic tumorigenesis. Methods: All 615 TF-target sets from the Molecular Signatures Database were evaluated using gene set enrichment analysis (GSEA) and three GWAS for SOC risk: discovery (2196 cases/4396 controls), replication (7035 cases/21 693 controls; independent from discovery), and combined (9627 cases/30 845 controls; including additional individuals). Results: The PAX8-target gene set was ranked 1/615 in the discovery (P-GSEA<0.001; FDR = 0.21), 7/615 in the replication (P-GSEA = 0.004; FDR = 0.37), and 1/615 in the combined (P-GSEA<0.001; FDR = 0.21) studies. Adding other genes reported to interact with PAX8 in the literature to the PAX8-target set and applying an alternative to GSEA, interval enrichment, further confirmed this association (P = 0.006). Fifteen of the 157 genes from this expanded PAX8 pathway were near eight loci associated with SOC risk at P<10(-5) (including six with P<5 x 10(-8)). The pathway was also associated with differential gene expression after shRNA-mediated silencing of PAX8 in HeyA8 (P-GSEA = 0.025) and IGROV1 (P-GSEA = 0.004) SOC cells and several PAX8 targets near SOC risk loci demonstrated in vitro transcriptomic perturbation. Conclusions: Putative PAX8 target genes are enriched for common SOC risk variants. This finding from our agnostic evaluation is of particular interest given that PAX8 is well-established as a specific marker for the cell of origin of SOC. C1 [Kar, Siddhartha P.; Tyrer, Jonathan; Pharoah, Paul D. P.] Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Cambridge CB1 8RN, England. [Adler, Emily; Pearce, Celeste L.; Pike, Malcolm C.; Wu, Anna H.] Univ Southern Calif, Keck Sch Med, Dept Prevent Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA. [Tyrer, Jonathan; Song, Honglin; Pharoah, Paul D. P.] Univ Cambridge, Dept Oncol, Strangeways Res Lab, Cambridge CB1 8RN, England. [Hazelett, Dennis] Cedars Sinai Med Ctr, Dept Biomed Sci, Bioinformat & Computat Biol Res Ctr, Los Angeles, CA 90048 USA. [Hazelett, Dennis; Gayther, Simon A.; Lawrenson, Kate] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Los Angeles, CA 90048 USA. [Anton-Culver, Hoda] Univ Calif Irvine, Dept Epidemiol, UCI Ctr Canc Genet Res & Prevent, Genet Epidemiol Res Inst,Sch Med, Irvine, CA 92697 USA. [Bandera, Elisa V.] Rutgers Canc Inst New Jersey, Canc Prevent & Control Program, New Brunswick, NJ 08903 USA. [Beckmann, Matthias W.; Fasching, Peter A.] Friedrich Alexander Univ Erlangen Nuremberg, Univ Hosp Erlangen, Dept Gynecol & Obstet, Comprehens Canc Ctr Erlangen Nuremberg, Univ Str 21-23, D-91054 Erlangen, Germany. [Berchuck, Andrew] Duke Univ, Med Ctr, Dept Obstet & Gynecol, Durham, NC 27710 USA. [Bogdanova, Natalia] Hannover Med Sch, Radiat Oncol Res Unit, D-30625 Hannover, Germany. [Brinton, Louise; Sherman, Mark; Wentzensen, Nicolas; Yang, Hannah] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Butzow, Ralf] Univ Helsinki, Dept Pathol, Helsinki 00100, Finland. [Butzow, Ralf; Nevanlinna, Heli] Helsinki Univ Hosp, Helsinki 00100, Finland. [Campbell, Ian] Peter MacCallum Canc Ctr, Div Res, Canc Genet Lab, St Andrews Pl, East Melbourne, Vic 3002, Australia. [Campbell, Ian] Univ Melbourne, Dept Pathol, Parkville, Vic 3010, Australia. [Carty, Karen; Glasspool, Rosalind; Paul, James] Beatson West Scotland Canc Ctr, Glasgow G12 0YN, Lanark, Scotland. [Chang-Claude, Jenny] Canc Res Ctr, Div Canc Epidemiol, D-69120 Heidelberg, Germany. [Chang-Claude, Jenny] Univ Med Ctr Hamburg Eppendorf, UCCH, D-20246 Hamburg, Germany. [Cook, Linda S.] Univ New Mexico, Dept Internal Med, Div Epidemiol & Biostat, Albuquerque, NM 87131 USA. [Cramer, Daniel W.; Terry, Kathryn L.] Brigham & Womens Hosp, Obstet & Gynecol Epidemiol Ctr, 75 Francis St, Boston, MA 02115 USA. [Cunningham, Julie M.] Mayo Clin, Dept Lab Med & Pathol, Rochester, MN 55905 USA. [Dansonka-Mieszkowska, Agnieszka; Kupryjanczyk, Jolanta] Maria Sklodowska Curie Mem Canc Ctr & Inst Oncol, Dept Pathol, PL-02781 Warsaw, Poland. [Doherty, Jennifer Anne] Geisel Sch Med Dartmouth, Dept Pathol, Hanover, NH 03756 USA. [Doerk, Thilo] Hannover Med Sch, Gynaecol Res Unit, D-30625 Hannover, Germany. [Duerst, Matthias] Jena Univ Hosp Friedrich Schiller Univ, Dept Gynecol, D-07737 Jena, Germany. [Eccles, Diana] Univ Southampton, Fac Med, Southampton SO16 5YA, Hants, England. [Fasching, Peter A.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Med, Div Hematol & Oncol, Los Angeles, CA 90095 USA. [Flanagan, James] Imperial Coll London, Dept Surg & Canc, London SW7 2AZ, England. [Gentry-Maharaj, Aleksandra; Menon, Usha] UCL, Inst Womens Hlth, Dept Womens Canc, London W1T 7DN, England. [Glasspool, Rosalind] Beatson West Scotland Canc Ctr, Glasgow G12 0YN, Lanark, Scotland. [Goode, Ellen L.] Mayo Clin, Div Epidemiol, Dept Hlth Sci Res, Rochester, MI 55905 USA. [Goodman, Marc T.] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Canc Prevent & Control, Los Angeles, CA 90048 USA. [Goodman, Marc T.] Cedars Sinai Med Ctr, Dept Biomed Sci, Commun & Populat Hlth Res Inst, Los Angeles, CA 90048 USA. [Gronwald, Jacek; Lubinski, Jan] Pomeranian Med Univ, Dept Genet & Pathol, Int Hereditary Canc Ctr, PL-70001 Szczecin, Poland. [Heitz, Florian] Kliniken Essen Mitte Evang Huyssens Stiftung Knap, Dept Gynecol & Gynecol Oncol, D-45136 Essen, Germany. [Heitz, Florian] Dr Horst Schmidt Kliniken Wiesbaden, Dept Gynecol & Gynecol Oncol, D-65199 Wiesbaden, Germany. [Hildebrandt, Michelle A. T.] Univ Texas MD Anderson Canc Ctr, Dept Epidemiol, Houston, TX 77030 USA. [Hogdall, Estrid; Jensen, Allan; Kjaer, Susanne K.] Danish Canc Soc Res Ctr, Dept Virus Lifestyle & Genes, DK-2100 Copenhagen, Denmark. [Hogdall, Estrid] Univ Copenhagen, Herlev Hosp, Dept Pathol, Mol Unit, DK-1165 Copenhagen, Denmark. [Hogdall, Claus K.] Univ Copenhagen, Dept Gynecol, Juliane Marie Ctr, Rigshosp, DK-2100 Copenhagen, Denmark. [Huntsman, David G.] BC Canc Agcy, Vancouver Gen Hosp BC Canc Agcy, British Columbias Ovarian Canc Res OVCARE Program, Vancouver, BC V5Z 1L3, Canada. [Huntsman, David G.] Univ British Columbia, Vancouver, BC V5Z 1L3, Canada. [Huntsman, David G.] Univ British Columbia, Dept Pathol & Lab Med, Vancouver, BC V5Z 1L3, Canada. [Huntsman, David G.] Univ British Columbia, Dept Obstet & Gynaecol, Vancouver, BC V5Z 1L3, Canada. [Huntsman, David G.] BC Canc Agcy, Dept Mol Oncol, Res Ctr, Vancouver, BC V5Z 1L3, Canada. [Karlan, Beth Y.; Walsh, Christine] Cedars Sinai Med Ctr, Samuel Oschin Comprehens Canc Inst, Womens Canc Program, Los Angeles, CA 90048 USA. [Kelemen, Linda E.] Med Univ South Carolina, Dept Publ Hlth Sci, Charleston, SC 29435 USA. [Kiemeney, Lambertus A.] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Hlth Sci, NL-6500 HB Nijmegen, Netherlands. [Kjaer, Susanne K.] Univ Copenhagen, Dept Gynaecol, Rigshosp, DK-2100 Copenhagen, Denmark. [Lambrechts, Diether] VIB, Vesalius Res Ctr, B-3000 Leuven, Belgium. [Lambrechts, Diether] Univ Leuven, Dept Oncol, Lab Translat Genet, B-3000 Louvain, Belgium. [Levine, Douglas A.] Mem Sloan Kettering Canc Ctr, Dept Surg, Gynecol Serv, New York, NY 10065 USA. [Li, Qiyuan] Dana Farber Canc Inst, Dept Med Oncol, Ctr Funct Canc Epigenet, Boston, MA 02215 USA. [Li, Qiyuan] Xiamen Univ, Coll Med, Xiamen 361102, Peoples R China. [Lissowska, Jolanta] M Sklodowska Curie Mem Canc Ctr & Inst Oncol, Dept Canc Epidemiol & Prevent, PL-02781 Warsaw, Poland. [Lu, Karen H.] Univ Texas MD Anderson Canc Ctr, Dept Gynecol Oncol, Houston, TX 77030 USA. [Massuger, Leon F. A. G.] Radboud Univ Nijmegen, Med Ctr, Radboud Inst Mol Life Sci, Dept Gynaecol, NL-6500 HB Nijmegen, Netherlands. [McGuire, Valerie; Sieh, Weiva; Whittemore, Alice S.] Stanford Univ, Sch Med, Dept Hlth Res & Policy Epidemiol, Stanford, CA 94305 USA. [McNeish, Iain] Univ Glasgow, Inst Canc Sci, Wolfson Wohl Canc Res Ctr, Inst Canc Res, Glasgow G12 0YN, Lanark, Scotland. [Modugno, Francesmary] Univ Pittsburgh, Sch Med, Dept Obstet Gynecol & Reprod Sci, Div Gynecol Oncol, Pittsburgh, PA 15213 USA. [Modugno, Francesmary] Univ Pittsburgh, Sch Publ Hlth, Dept Epidemiol, Pittsburgh, PA 15213 USA. [Modugno, Francesmary] Magee Womens Res Inst, Womens Canc Res Program, Ovarian Canc Ctr Excellence, Pittsburgh, PA 15213 USA. [Modugno, Francesmary] Univ Pittsburgh, Inst Canc, Pittsburgh, PA 15213 USA. [Monteiro, Alvaro N.; Permuth, Jennifer B.; Phelan, Catherine; Sellers, Thomas A.] H Lee Moffitt Canc Ctr & Res Inst, Dept Canc Epidemiol, Tampa, FL 33612 USA. [Moysich, Kirsten B.] Roswell Pk Canc Inst, Dept Canc Prevent & Control, Buffalo, NY 14263 USA. [Nevanlinna, Heli] Univ Helsinki, Dept Obstet & Gynecol, Helsinki 00100, Finland. [Nevanlinna, Heli] Univ Texas Houston, Sch Publ Hlth, Houston, TX 77030 USA. [Pearce, Celeste L.] Univ Michigan, Sch Publ Hlth, Dept Epidemiol, Ann Arbor, MI 48109 USA. [Pejovic, Tanja] Oregon Hlth & Sci Univ, Dept Obstet & Gynecol, Portland, OR 97239 USA. [Pejovic, Tanja] Oregon Hlth & Sci Univ, Knight Canc Inst, Portland, OR 97239 USA. [Pike, Malcolm C.] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10065 USA. [Poole, Elizabeth M.; Tworoger, Shelley S.] Brigham & Womens Hosp, Channing Div Network Med, Boston, MA 02215 USA. [Poole, Elizabeth M.; Tworoger, Shelley S.] Harvard Med Sch, Boston, MA 02215 USA. [Ramus, Susan J.] Univ New South Wales, Fac Med, Sydney, NSW 2052, Australia. [Risch, Harvey A.] Yale Sch Publ Hlth, Dept Chron Dis Epidemiol, New Haven, CT 06510 USA. [Rossing, Mary Anne] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Program Epidemiol, Seattle, WA 98109 USA. [Rossing, Mary Anne] Univ Washington, Dept Epidemiol, Seattle, WA 98109 USA. [Salvesen, Helga B.] Haukeland Univ Horpital, Dept Gynecol & Obstet, N-5058 Bergen, Norway. [Salvesen, Helga B.] Univ Bergen, Dept Clin Sci, Ctr Canc Biomarkers, N-5058 Bergen, Norway. [Schildkraut, Joellen M.] Duke Univ, Med Ctr, Dept Community & Family Med, Durham, NC 27710 USA. [Schildkraut, Joellen M.] Duke Canc Inst, Canc Control & Populat Sci, Durham, NC 27710 USA. [Siddiqui, Nadeem] Glasgow Royal Infirm, Dept Gynaecol Oncol, Glasgow G4 0SF, Lanark, Scotland. [Southey, Melissa] Univ Melbourne, Dept Pathol, Genet Epidemiol Lab, Melbourne, Vic 3002, Australia. [Terry, Kathryn L.; Tworoger, Shelley S.] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02215 USA. [Zheng, Wei] Vanderbilt Univ, Div Epidemiol, Vanderbilt Ingram Canc Ctr, Med Ctr Med,Vanderbilt Epidemiol Ctr, Nashville, TN 37232 USA. [Ziogas, Argyrios] Univ Calif Irvine, Dept Epidemiol, Irvine, CA 92697 USA. [Freedman, Matthew L.] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02215 USA. [Freedman, Matthew L.] Eli & Edythe L Broad Inst, Cambridge, MA 02142 USA. [Gayther, Simon A.] Cedars Sinai Med Ctr, Dept Biomed Sci, Los Angeles, CA 90048 USA. [Lawrenson, Kate] Cedars Sinai Med Ctr, Dept Obstet & Gynecol, Div Gynecol Oncol, Los Angeles, CA 90048 USA. RP Kar, SP (reprint author), Univ Cambridge, Dept Publ Hlth & Primary Care, Strangeways Res Lab, Cambridge CB1 8RN, England. EM sk718@medschl.cam.ac.uk RI Dork, Thilo/J-8620-2012 FU Medical Research Council [G0501974]; NCI NIH HHS [R01 CA136924, K07 CA080668, K07 CA092044, K07 CA095666, K07 CA143047, K22 CA138563, N01 CN025403, N01 PC067010, N01PC35137, P01 CA017054, P01 CA087969, P30 CA014089, P30 CA015083, P30 CA016056, P50 CA105009, P50 CA136393, P50 CA159981, R00 CA184415, R01 CA049449, R01 CA050385, R01 CA054419, R01 CA058598, R01 CA058860, R01 CA063678, R01 CA063682, R01 CA064277, R01 CA067262, R01 CA074850, R01 CA076016, R01 CA080742, R01 CA083918, R01 CA087538, R01 CA087696, R01 CA095023, R01 CA106414, R01 CA112523, R01 CA114343, R01 CA122443, R01 CA126841, R01 CA149429, R03 CA113148, R03 CA115195, R37 CA070867, U01 CA069417, U19 CA148112, UM1 CA176726, UM1 CA182910, UM1 CA186107]; NCRR NIH HHS [M01 RR000056] NR 48 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0007-0920 EI 1532-1827 J9 BRIT J CANCER JI Br. J. Cancer PD FEB 14 PY 2017 VL 116 IS 4 BP 524 EP 535 DI 10.1038/bjc.2016.426 PG 12 WC Oncology SC Oncology GA EL2JT UT WOS:000394446600014 PM 28103614 ER PT J AU Scadding, GW Calderon, MA Shamji, MH Eifan, AO Penagos, M Dumitru, F Sever, ML Bahnson, HT Lawson, K Harris, KM Plough, AG Panza, JL Qin, TL Lim, N Tchao, NK Togias, A Durham, SR AF Scadding, Guy W. Calderon, Moises A. Shamji, Mohamed H. Eifan, Aarif O. Penagos, Martin Dumitru, Florentina Sever, Michelle L. Bahnson, Henry T. Lawson, Kaitie Harris, Kristina M. Plough, Audrey G. Panza, Joy Laurienzo Qin, Tielin Lim, Noha Tchao, Nadia K. Togias, Alkis Durham, Stephen R. CA Immune Tolerance Network GRASS Stu TI Effect of 2 Years of Treatment With Sublingual Grass Pollen Immunotherapy on Nasal Response to Allergen Challenge at 3 Years Among Patients With Moderate to Severe Seasonal Allergic Rhinitis The GRASS Randomized Clinical Trial SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID RESPIRATORY ALLERGY; EFFICACY; RHINOCONJUNCTIVITIS; CESSATION; OUTCOMES; ASTHMA; SAFETY; TABLET; SCORE AB Importance Sublingual immunotherapy and subcutaneous immunotherapy are effective in seasonal allergic rhinitis. Three years of continuous treatment with subcutaneous immunotherapy and sublingual immunotherapy has been shown to improve symptoms for at least 2 years following discontinuation of treatment. Objective To assess whether 2 years of treatment with grass pollen sublingual immunotherapy, compared with placebo, provides improved nasal response to allergen challenge at 3-year follow-up. Design, Setting, and Participants A randomized double-blind, placebo-controlled, 3-parallel-group study performed in a single academic center, Imperial College London, of adult patients with moderate to severe seasonal allergic rhinitis (interfering with usual daily activities or sleep). First enrollment was March 2011, last follow-up was February 2015. Interventions Thirty-six participants received 2 years of sublingual immunotherapy (daily tablets containing 15 mu g of major allergen Phleum p 5 and monthly placebo injections), 36 received subcutaneous immunotherapy (monthly injections containing 20 mu g of Phleum p 5 and daily placebo tablets) and 34 received matched double-placebo. Nasal allergen challenge was performed before treatment, at 1 and 2 years of treatment, and at 3 years (1 year after treatment discontinuation). Main Outcomes and Measures Total nasal symptom scores (TNSS; range; 0 [best] to 12 [worst]) were recorded between 0 and 10 hours after challenge. The minimum clinically important difference for change in TNSS within an individual is 1.08. The primary outcome was TNSS comparing sublingual immunotherapy vs placebo at year 3. Subcutaneous immunotherapy was included as a positive control. The study was not powered to compare sublingual immunotherapy with subcutaneous immunotherapy. Results Among 106 randomized participants (mean age, 33.5 years; 34 women [32.1%]), 92 completed the study at 3 years. In the intent-to-treat population, mean TNSS score for the sublingual immunotherapy group was 6.36 (95% CI, 5.76 to 6.96) at pretreatment and 4.73 (95% CI, 3.97 to 5.48) at 3 years, and for the placebo group, the score was 6.06 (95% CI, 5.23 to 6.88) at pretreatment and 4.81 (95% CI, 3.97 to 5.65) at 3 years. The between-group difference (adjusted for baseline) was -0.18 (95% CI, -1.25 to 0.90; [P = .75]). Conclusions and Relevance Among patients with moderate to severe seasonal allergic rhinitis, 2 years of sublingual grass pollen immunotherapy was not significantly different from placebo in improving the nasal response to allergen challenge at 3-year follow-up. C1 [Scadding, Guy W.; Calderon, Moises A.; Shamji, Mohamed H.; Eifan, Aarif O.; Penagos, Martin; Dumitru, Florentina; Durham, Stephen R.] Imperial Coll, London, England. [Scadding, Guy W.; Calderon, Moises A.; Shamji, Mohamed H.; Eifan, Aarif O.; Penagos, Martin; Dumitru, Florentina; Durham, Stephen R.] Royal Brompton & Harefield Hosp NHS Fdn Trust, London, England. [Sever, Michelle L.; Bahnson, Henry T.; Lawson, Kaitie] Rho Fed Syst Div, Chapel Hill, NC USA. [Bahnson, Henry T.] Benaroya Res Inst, Immune Tolerance Network, Seattle, WA USA. [Harris, Kristina M.; Qin, Tielin; Lim, Noha] Immune Tolerance Network, Bethesda, MD USA. [Plough, Audrey G.; Tchao, Nadia K.] Immune Tolerance Network, San Francisco, CA USA. [Panza, Joy Laurienzo; Togias, Alkis] NIAID, Rockville, MD USA. [Tchao, Nadia K.] Amgen Inc, Dept Early Dev Hematol Oncol, San Francisco, CA USA. RP Durham, SR (reprint author), Imperial Coll London, Natl Heart & Lung Inst, Allergy & Clin Immunol, Sect Inflammat Repair & Dev, Dovehouse St, London SW3 6LY, England. EM s.durham@imperial.ac.uk OI Eifan, Aarif/0000-0003-4098-4211 FU DAIT-NIAID, National Institutes of Health (NIH) [NO1-AI-15416, UM1AI109565, UM2AI117870]; DAIT-NIAID [UM2AI117870, HHSN272200800029C, HHSN272201200004C, HHSN272201200002C] FX The trial was conducted by the ITN with financial support from the DAIT-NIAID, National Institutes of Health (NIH) under award numbers NO1-AI-15416, UM1AI109565, and UM2AI117870; the following DAIT-NIAID-funded groups: Statistical and Clinical Coordinating Centers (contract HHSN272200800029C and grant UM2AI117870), Clinical Site Monitoring Center (contract HHSN272201200004C), and Regulatory Management Center (contract HHSN272201200002C); ALK-Abello A/S Horsholm, Denmark supplied Alutard SQ Grass Pollen, and Grazax, and matching placebos used for the GRASS clinical trial to DAIT-NIAID without charge. Dr Durham served as the sponsor of the Medicines and Healthcare Products Regulatory Agency Clinical Trial Application. NR 34 TC 1 Z9 1 U1 1 U2 1 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD FEB 14 PY 2017 VL 317 IS 6 BP 615 EP 625 DI 10.1001/jama.2016.21040 PG 11 WC Medicine, General & Internal SC General & Internal Medicine GA EL8LI UT WOS:000394870900016 PM 28196255 ER PT J AU Nielles-Vallespin, S Khalique, Z Ferreira, PF de Silva, R Scott, AD Kilner, P McGill, LA Giannakidis, A Gatehouse, PD Ennis, D Aliotta, E Al-Khalil, M Kellman, P Mazilu, D Balaban, RS Firmin, DN Arai, AE Pennell, DJ AF Nielles-Vallespin, Sonia Khalique, Zohya Ferreira, Pedro F. de Silva, Ranil Scott, Andrew D. Kilner, Philip McGill, Laura-Ann Giannakidis, Archontis Gatehouse, Peter D. Ennis, Daniel Aliotta, Eric Al-Khalil, Majid Kellman, Peter Mazilu, Dumitru Balaban, Robert S. Firmin, David N. Arai, Andrew E. Pennell, Dudley J. TI Assessment of Myocardial Microstructural Dynamics by In Vivo Diffusion Tensor Cardiac Magnetic Resonance SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Article DE dilated cardiomyopathy; helical structure; hypertrophic cardiomyopathy; laminar structure; left ventricle; sheetlet structure ID HYPERTROPHIC CARDIOMYOPATHY; FIBER ORIENTATION; LEFT-VENTRICLE; HISTOLOGICAL VALIDATION; LAMINAR ARCHITECTURE; EUROPEAN-SOCIETY; WATER DIFFUSION; TASK-FORCE; MRI; STRAIN AB BACKGROUND Cardiomyocytes are organized in microstructures termed sheetlets that reorientate during left ventricular thickening. Diffusion tensor cardiac magnetic resonance (DT-CMR) may enable noninvasive interrogation of in vivo cardiac microstructural dynamics. Dilated cardiomyopathy (DCM) is a condition of abnormal myocardium with unknown sheetlet function. OBJECTIVES This study sought to validate in vivo DT-CMR measures of cardiac microstructure against histology, characterize microstructural dynamics during left ventricular wall thickening, and apply the technique in hypertrophic cardiomyopathy (HCM) and DCM. METHODS In vivo DT-CMR was acquired throughout the cardiac cycle in healthy swine, followed by in situ and ex vivo DT-CMR, then validated against histology. In vivo DT-CMR was performed in 19 control subjects, 19 DCM, and 13 HCM patients. RESULTS In swine, a DT-CMR index of sheetlet reorientation (E2A) changed substantially (E2A mobility similar to 46 degrees). E2A changes correlated with wall thickness changes (in vivo r(2) = 0.75; in situ r(2) = 0.89), were consistently observed under all experimental conditions, and accorded closely with histological analyses in both relaxed and contracted states. The potential contribution of cyclical strain effects to in vivo E2A was similar to 17%. In healthy human control subjects, E2A increased from diastole (18 degrees) to systole (65 degrees; p < 0.001; E2A mobility = 45 degrees). HCM patients showed significantly greater E2A in diastole than control subjects did (48 degrees; p < 0.001) with impaired E2A mobility (23 degrees; p < 0.001). In DCM, E2A was similar to control subjects in diastole, but systolic values were markedly lower (40 degrees; p < 0.001) with impaired E2A mobility (20 degrees; p < 0.001). CONCLUSIONS Myocardial microstructure dynamics can be characterized by in vivo DT-CMR. Sheetlet function was abnormal in DCM with altered systolic conformation and reduced mobility, contrasting with HCM, which showed reduced mobility with altered diastolic conformation. These novel insights significantly improve understanding of contractile dysfunction at a level of noninvasive interrogation not previously available in humans. C1 [Nielles-Vallespin, Sonia; Kellman, Peter; Mazilu, Dumitru; Balaban, Robert S.; Arai, Andrew E.] NHLBI, NIH, Dept Hlth & Human Serv, Bldg 10, Bethesda, MD 20892 USA. [Nielles-Vallespin, Sonia; Khalique, Zohya; Ferreira, Pedro F.; de Silva, Ranil; Scott, Andrew D.; Kilner, Philip; McGill, Laura-Ann; Giannakidis, Archontis; Gatehouse, Peter D.; Al-Khalil, Majid; Firmin, David N.; Pennell, Dudley J.] Royal Brompton & Harefield Natl Hlth Serv Fdn Tru, Cardiovasc Magnet Resonance Unit, London, England. [Nielles-Vallespin, Sonia; Khalique, Zohya; Ferreira, Pedro F.; de Silva, Ranil; Scott, Andrew D.; Kilner, Philip; McGill, Laura-Ann; Giannakidis, Archontis; Gatehouse, Peter D.; Firmin, David N.; Pennell, Dudley J.] Imperial Coll London, Natl Heart & Lung Inst, London, England. [Khalique, Zohya; Ferreira, Pedro F.; de Silva, Ranil; Scott, Andrew D.; Kilner, Philip; Firmin, David N.; Pennell, Dudley J.] Royal Brompton & Harefield Natl Hlth Serv Fdn Tru, Natl Inst Hlth Res, Cardiovasc Biomed Res Unit, London, England. [Khalique, Zohya; Ferreira, Pedro F.; de Silva, Ranil; Scott, Andrew D.; Kilner, Philip; Firmin, David N.; Pennell, Dudley J.] Imperial Coll London, London, England. [Ennis, Daniel; Aliotta, Eric] Univ Calif Los Angeles, David Geffen Sch Med, Dept Radiol Sci, Los Angeles, CA 90095 USA. RP Nielles-Vallespin, S (reprint author), NHLBI, NIH, Bldg 10,Room B1D401,10 Ctr Dr, Bethesda, MD 20892 USA. EM sonia.nielles-vallespin@nih.gov FU National Heart, Lung, and Blood Institute, National Institutes of Health, Division of Intramural Research, Department of Health and Human Services [HL004607-14CPB]; British Heart Foundation; National Institute of Health Research Cardiovascular Biomedical Research Unit at the Royal Brompton Hospital and Imperial College, London; Siemens Medical Solutions; Siemens FX This work was supported by the National Heart, Lung, and Blood Institute, National Institutes of Health, Division of Intramural Research, Department of Health and Human Services (HL004607-14CPB); the British Heart Foundation; and the National Institute of Health Research Cardiovascular Biomedical Research Unit at the Royal Brompton Hospital and Imperial College, London. Dr. Gatehouse has a departmental research agreement and collaborates on other work with Siemens. Dr. Ennis has received research support from Siemens Medical Solutions. Dr. Arai is a principal investigator on a U.S. government Cooperative Research and Development Agreement with Siemens Medical Solutions (HL-CR-05-004); and has a research agreement with Bayer. Dr. Pennell is a shareholder and Director of Cardiovascular Imaging Solutions; and has received research support from Siemens. Royal Brompton Hospital has research collaboration agreements with Siemens AG Medical Solutions. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. Drs. Nielles-Vallespin, Khalique, and Ferreira contributed equally to this work and are joint first authors. Drs. Firmin, Arai, and Pennell contributed equally to this work and are joint senior authors. NR 49 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD FEB 14 PY 2017 VL 69 IS 6 BP 661 EP 676 DI 10.1016/j.jacc.2016.11.051 PG 16 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EN9SC UT WOS:000396338900009 PM 28183509 ER PT J AU Lansky, AJ Messe, SR Brickman, AM Dwyer, M van der Worp, HB Lazar, RM Pietras, CG Abrams, KJ McFadden, E Petersen, NH Browndyke, J Prendergast, B Ng, VG Cutlip, DE Kapadia, S Krucoff, MW Linke, A Moy, CS Schofer, J van Es, GA Virmani, R Popma, J Parides, MK Kodali, S Bilello, M Zivadinov, R Akar, J Furie, KL Gress, D Voros, S Moses, J Greer, D Forrest, JK Holmes, D Kappetein, AP Mack, M Baumbach, A AF Lansky, Alexandra J. Messe, Steven R. Brickman, Adam M. Dwyer, Michael van der Worp, H. Bart Lazar, Ronald M. Pietras, Cody G. Abrams, Kevin J. McFadden, Eugene Petersen, Nils H. Browndyke, Jeffrey Prendergast, Bernard Ng, Vivian G. Cutlip, Donald E. Kapadia, Samir Krucoff, Mitchell W. Linke, Axel Moy, Claudia Scala Schofer, Joachim van Es, Gerrit-Anne Virmani, Renu Popma, Jeffrey Parides, Michael K. Kodali, Susheel Bilello, Michel Zivadinov, Robert Akar, Joseph Furie, Karen L. Gress, Daryl Voros, Szilard Moses, Jeffrey Greer, David Forrest, John K. Holmes, David Kappetein, Arie P. Mack, Michael Baumbach, Andreas TI Proposed Standardized Neurological Endpoints for Cardiovascular Clinical Trials An Academic Research Consortium Initiative SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Review DE cardiovascular; methodology; neurological definitions; outcomes; stroke trials ID AORTIC-VALVE IMPLANTATION; ASSOCIATION/AMERICAN STROKE ASSOCIATION; TRANSIENT ISCHEMIC ATTACK; HEALTH-CARE PROFESSIONALS; CEREBRAL-ISCHEMIA; COGNITIVE IMPAIRMENT; CONSENSUS DOCUMENT; CARDIAC-SURGERY; DIFFUSION; METAANALYSIS AB Surgical and catheter-based cardiovascular procedures and adjunctive pharmacology have an inherent risk of neurological complications. The current diversity of neurological endpoint definitions and ascertainment methods in clinical trials has led to uncertainties in the neurological risk attributable to cardiovascular procedures and inconsistent evaluation of therapies intended to prevent or mitigate neurological injury. Benefit-risk assessment of such procedures should be on the basis of an evaluation of well-defined neurological outcomes that are ascertained with consistent methods and capture the full spectrum of neurovascular injury and its clinical effect. The Neurologic Academic Research Consortium is an international collaboration intended to establish consensus on the definition, classification, and assessment of neurological endpoints applicable to clinical trials of a broad range of cardiovascular interventions. Systematic application of the proposed definitions and assessments will improve our ability to evaluate the risks of cardiovascular procedures and the safety and effectiveness of preventive therapies. (C) 2017 The Authors. Published by Elsevier Inc. on behalf of the American College of Cardiology Foundation. All rights reserved. C1 [Lansky, Alexandra J.; Pietras, Cody G.; Ng, Vivian G.; Akar, Joseph; Forrest, John K.] Yale Sch Med, Dept Internal Med, Div Cardiovasc Med, 135 Coll St,Suite 101, New Haven, CT 06510 USA. [Lansky, Alexandra J.; Pietras, Cody G.; Ng, Vivian G.] Yale Cardiovasc Res Grp, New Haven, CT USA. [Lansky, Alexandra J.; Baumbach, Andreas] St Bartholomews Hosp, William Harvey Res Inst, Dept Cardiol, London, England. [Lansky, Alexandra J.; Baumbach, Andreas] Queen Mary Univ London, London, England. [Messe, Steven R.] Hosp Univ Penn, Dept Neurol, 3400 Spruce St, Philadelphia, PA 19104 USA. [Brickman, Adam M.; Lazar, Ronald M.] Columbia Univ, Coll Phys & Surg, Dept Neurol, New York, NY USA. [Dwyer, Michael; Zivadinov, Robert] SUNY Buffalo, Buffalo Neuroimaging Anal, Buffalo, NY USA. [van der Worp, H. Bart] Univ Med Ctr Utrecht, Brain Ctr Rudolf Magnus, Dept Neurol & Neurosurg, Utrecht, Netherlands. [Abrams, Kevin J.] Baptist Hosp Miami, Baptist Cardiac & Vasc Inst, Miami, FL USA. [McFadden, Eugene] Cork Univ Hosp, Dept Cardiol, Cork, Ireland. [Petersen, Nils H.; Greer, David] Yale Univ, Sch Med, Dept Neurol, New Haven, CT 06510 USA. [Browndyke, Jeffrey] Duke Univ, Med Ctr, Dept Psychiat & Behav Sci, Div Geriatr Behav Hlth, Durham, NC USA. [Prendergast, Bernard] St Thomas Hosp, Dept Cardiol, London, England. [Cutlip, Donald E.] Beth Israel Deaconess Med Ctr, Dept Med, Div Cardiovasc Med, Boston, MA 02215 USA. [Kapadia, Samir] Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44106 USA. [Krucoff, Mitchell W.] Duke Univ, Med Ctr, Dept Cardiol, Durham, NC USA. [Linke, Axel] Univ Leipzig, Dept Internal Med Cardiol, Leipzig, Germany. [Moy, Claudia Scala] NINDS, Off Clin Res, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Schofer, Joachim] Albertine Heart Ctr, Medicare Ctr, Hamburg, Germany. [Schofer, Joachim] Albertine Heart Ctr, Dept Percutaneous Intervent Struct Heart Dis, Hamburg, Germany. [van Es, Gerrit-Anne] Cardialysis, Rotterdam, Netherlands. [Virmani, Renu] CVpath Inst, Gaithersburg, MD USA. [Popma, Jeffrey; Parides, Michael K.] Mt Sinai Grp, Icahn Sch Med, New York, NY USA. [Kodali, Susheel; Moses, Jeffrey] Columbia Univ, Med Ctr, Dept Internal Med, Div Cardiol, New York, NY USA. [Bilello, Michel] Hosp Univ Penn, Dept Radiol, 3400 Spruce St, Philadelphia, PA 19104 USA. [Furie, Karen L.] Rhode Isl Hosp, Dept Neurol, Providence, RI USA. [Gress, Daryl] Univ Nebraska Med Ctr, Dept Neurol Sci, Omaha, NE USA. [Voros, Szilard] Global Inst Res & Global Genom Grp, Richmond, VA USA. [Holmes, David] Mayo Clin, Dept Cardiovasc Dis, Rochester, MN USA. [Kappetein, Arie P.] Erasmus Univ, Med Ctr, Dept Cardiothorac Surg, Rotterdam, Netherlands. [Mack, Michael] Heart Hosp, Baylor Plano Res Ctr, Dept Cardiovasc Surg, Plano, TX USA. RP Lansky, AJ (reprint author), Yale Sch Med, Dept Internal Med, Div Cardiovasc Med, 135 Coll St,Suite 101, New Haven, CT 06510 USA. EM alexandra.lansky@yale.edu FU Boston Scientific; Edwards Lifesciences; Medtronic Corporation; St. Jude Medical; NeuroSave Inc.; Keystone Heart Ltd.; Keystone Heart; GlaxoSmithKline; Bayer; Direct Flow Medical; Novartis; Claret Medical; Dutch Heart Foundation [2010T075]; Medtronic; Abbott Vascular; 480 Biomedical; Abbott Vascular Japan; Atrium; Biosensors International; Biotronik; Cordis Johnson Johnson; Kona; Microport Medical; OrbusNeich Medical; ReCore; SINO Medical Technology; Terumo Corporation; W.L. Gore; Abbott; Teva Pharmaceuticals; Biogen Idec; EMD Serono; Genzyme-Sanofi; IMS Health; Intekrin FX Grants to support travel costs, meeting rooms, and lodging for academic attendees at the San Francisco and New York meetings were provided by Boston Scientific, Edwards Lifesciences, Medtronic Corporation, St. Jude Medical, NeuroSave Inc., and Keystone Heart Ltd. The NeuroARC meetings involved members of the U.S. Center for Devices and Radiological Health, U.S. Food and Drug Association (FDA). The opinions or assertions herein are the views of the authors, and are not to be construed as reflecting the views of the FDA. Dr. Lansky has received research grant support from Keystone Heart, NeuroSave Inc., and Boston Scientific; and has received speaker/consultant fees from Keystone Heart. Dr. Messe has received research support from GlaxoSmithKline and Bayer; and is participating on the Clinical Events Committee for the SALUS trial, sponsored by Direct Flow Medical. Dr. Brickman has served as a consultant for Keystone Heart, ERT, and ProPhase LLC. Dr. Dwyer has received research grant support and is on the advisory board for Novartis; has received research grant support and consulting fees from Claret Medical; and is on the advisory board for EMD Serono. Dr. van der Worp is supported by a grant from the Dutch Heart Foundation (2010T075). Dr. Lazar has received grant support and consulting fees from Claret Medical. Dr. Abrams has received consultant fees and equity for Keystone Heart. Dr. Prendergast has received lecture fees from Edwards Lifesciences and Boston Scientific. Dr. Cutlip has received research contract funding from Medtronic and Boston Scientific to his institution. Dr. Kapadia has served as the coprincipal investigator for the Sentinel study sponsored by Claret Medical (unpaid). Dr. Krucoff has received research grants from and served as a consultant for Abbott Vascular, Medtronic, Boston Scientific, and St. Jude Medical. Dr. Linke has received research grant support from Medtronic and Claret Medical; has served as a consultant for Medtronic, Bard, and St. Jude Medical; has received speaker honoraria from Medtronic, St. Jude Medical, Symetis, Edwards Lifesciences, and Boston Scientific; and has stock options in Claret Medical. Dr. Virmani has received research support from 480 Biomedical, Abbott Vascular Japan, Atrium, Biosensors International, Biotronik, Boston Scientific, Cordis Johnson & Johnson, GlaxoSmithKline, Kona, Medtronic, Microport Medical, OrbusNeich Medical, ReCore, SINO Medical Technology, Terumo Corporation, and W.L. Gore. Dr. Popma has received institutional grants from Medtronic, Boston Scientific, Abbott, and Direct Flow Medical; has served on the medical advisory board of Boston Scientific; and has received consultant fees from and has equity in Direct Flow Medical. Dr. Kodali has served on the Steering Committee of the PARTNER III Trial, sponsored by Edwards Lifesciences; has served as a consultant to Medtronic; is the principal investigator of the Sentinel Trial sponsored by Claret Medical; has served on the scientific advisory boards of Thubrikar Aortic Valve Inc. and Dura Biotech; has received research support and travel reimbursement from Edwards Lifesciences, Claret Medical, and Medtronic; and has equity in Thubrikar Aortic Valve (minimal) and Dura Biotech. Dr. Zivadinov has received speaker/consultant fees from Teva Pharmaceuticals, Biogen Idec, EMD Serono, Genzyme-Sanofi, Claret Medical, IMS Health, and Novartis; and has received research grants from Teva Pharmaceuticals, Genzyme-Sanofi, Novartis, Claret Medical, Intekrin, and IMS Health. Dr.; Gress has served as a consultant to Medtronic; and has served on the scientific advisory board of Ornim, Keystone Heart, and Silk Road Medical. Dr. Voros is a founder, shareholder, and executive of Global Institute for Research; and is a minority shareholder in Keystone Heart. Dr. Moses has equity in Claret. Dr. Forrest has received grant support and consulting fees from Edwards Lifesciences and Medtronic. Dr. Baumbach has received research grants and speakers fees for Keystone Heart. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. NR 68 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD FEB 14 PY 2017 VL 69 IS 6 BP 679 EP 691 DI 10.1016/j.jacc.2016.11.045 PG 13 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EN9SC UT WOS:000396338900011 PM 28183511 ER PT J AU Yang, L Pratt, C Valencia, E Conover, S Fernandez, R Burrone, MS Cavalcanti, MT Lovisi, G Rojas, G Alvarado, R Galea, S Price, LN Susser, E AF Yang, L. Pratt, C. Valencia, E. Conover, S. Fernandez, R. Burrone, M. S. Cavalcanti, M. T. Lovisi, G. Rojas, G. Alvarado, R. Galea, S. Price, L. N. Susser, E. TI RedeAmericas: building research capacity in young leaders for sustainable growth in community mental health services in Latin America SO GLOBAL MENTAL HEALTH LA English DT Article DE Capacity building; career development; global mental health; Latin America; mentorship program; other ID MIDDLE-INCOME COUNTRIES; IMPLEMENTATION; ILLNESS; STIGMA AB The purpose of this paper is to describe the development and initial accomplishments of a training program of young leaders in community mental health research as part of a Latin American initiative known as RedeAmericas. RedeAmericas was one of five regional 'Hubs' funded by the National Institute of Mental Health (NIMH) to improve community mental health care and build mental health research capacity in low-and middle-income countries. It included investigators in six Latin American cities - Santiago, Chile; Medellin, Colombia; Rio de Janeiro, Brazil; and Cordoba, Neuquen, and Buenos Aires in Argentina - working together with a team affiliated with the Global Mental Health program at Columbia University in New York City. One component of RedeAmericas was a capacity-building effort that included an Awardee program for early career researchers in the mental health field. We review the aims of this component, how it developed, and what was learned that would be useful for future capacity-building efforts, and also comment on future prospects for maintaining this type of effort. C1 [Yang, L.] NYU, Coll Global Publ Hlth, New York, NY USA. [Yang, L.; Pratt, C.; Valencia, E.; Susser, E.] Columbia Univ, Mailman Sch Publ Hlth, 722 West 168th St 1030, New York, NY 10032 USA. [Valencia, E.; Alvarado, R.] Univ Chile, Sch Publ Hlth, Fac Med, Santiago, Chile. [Conover, S.] CUNY, Hunter Coll, Silberman Sch Social Work, New York, NY 10021 USA. [Fernandez, R.; Burrone, M. S.] Natl Univ Cordoba, Sch Publ Hlth, Cordoba, Argentina. [Cavalcanti, M. T.] Univ Fed Rio de Janeiro, Inst Psychiat, Rio De Janeiro, Brazil. [Lovisi, G.] Univ Fed Rio de Janeiro, Sch Publ Hlth, Rio De Janeiro, Brazil. [Rojas, G.] Univ Chile, Fac Med, Clin Hosp, Santiago, Chile. [Galea, S.] Boston Univ, Sch Publ Hlth, Boston, MA 02215 USA. [Price, L. N.] NIMH, NIH, Bethesda, MD USA. [Susser, E.] New York State Psychiat Inst & Hosp, New York, NY 10032 USA. RP Susser, E (reprint author), Columbia Univ, Mailman Sch Publ Hlth, 722 West 168th St 1030, New York, NY 10032 USA.; Susser, E (reprint author), New York State Psychiat Inst & Hosp, New York, NY 10032 USA. EM ess8@cumc.columbia.edu FU US National Institute of Mental Health of the National Institutes of Health [U19MH095718] FX The research reported in this article was supported by the US National Institute of Mental Health of the National Institutes of Health under award number U19MH095718. The views expressed are those of the authors and do not necessarily represent those of the National Institute of Mental Health, the National Institutes of Health, the Department of Health and Human Services, or the US Government. NR 21 TC 0 Z9 0 U1 1 U2 1 PU CAMBRIDGE UNIV PRESS PI CAMBRIDGE PA EDINBURGH BLDG, SHAFTESBURY RD, CB2 8RU CAMBRIDGE, ENGLAND SN 2054-4251 J9 GLOB MENT HEALTH JI Glob. Ment. Health PD FEB 14 PY 2017 VL 4 AR e3 DI 10.1017/gmh.2017.2 PG 9 WC Psychiatry SC Psychiatry GA EL0IF UT WOS:000394305400001 ER PT J AU Hoglinger, D Nadler, A Haberkant, P Kirkpatrick, J Schifferer, M Stein, F Hauke, S Porter, FD Schultz, C AF Hoeglinger, Doris Nadler, Andre Haberkant, Per Kirkpatrick, Joanna Schifferer, Martina Stein, Frank Hauke, Sebastian Porter, Forbes D. Schultz, Carsten TI Trifunctional lipid probes for comprehensive studies of single lipid species in living cells SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE lipid-protein interaction; sphingosine; diacylglycerol; caged lipids; Niemann-Pick disease type C ID NIEMANN-PICK-DISEASE; SACCHAROMYCES-CEREVISIAE; CORRELATED FLUORESCENCE; ELECTRON-MICROSCOPY; PHOSPHATIDIC-ACID; PLASMA-MEMBRANE; SPHINGOSINE; METABOLISM; PROTEINS; VISUALIZATION AB Lipid-mediated signaling events regulate many cellular processes. Investigations of the complex underlying mechanisms are difficult because several different methods need to be used under varying conditions. Here we introduce multifunctional lipid derivatives to study lipid metabolism, lipid-protein interactions, and intracellular lipid localization with a single tool per target lipid. The probes are equipped with two photoreactive groups to allow photoliberation (uncaging) and photo-cross-linking in a sequential manner, as well as a click-handle for subsequent functionalization. We demonstrate the versatility of the design for the signaling lipids sphingosine and diacylglycerol; uncaging of the probe for these two species triggered calcium signaling and intracellular protein translocation events, respectively. We performed proteomic screens to map the lipid-interacting proteome for both lipids. Finally, we visualized a sphingosine transport deficiency in patient-derived Niemann-Pick disease type C fibroblasts by fluorescence as well as correlative light and electron microscopy, pointing toward the diagnostic potential of such tools. We envision that this type of probe will become important for analyzing and ultimately understanding lipid signaling events in a comprehensive manner. C1 [Hoeglinger, Doris; Nadler, Andre; Haberkant, Per; Kirkpatrick, Joanna; Schifferer, Martina; Stein, Frank; Hauke, Sebastian; Schultz, Carsten] European Mol Biol Lab, Cell Biol & Biophys Unit, D-69117 Heidelberg, Germany. [Hoeglinger, Doris] Univ Oxford, Dept Pharmacol, Oxford OX1 3QT, England. [Nadler, Andre] Max Planck Inst Mol Cell Biol & Genet, D-01307 Dresden, Germany. [Kirkpatrick, Joanna] Leibniz Inst, Aging Fritz Lipmann Inst, D-07745 Jena, Germany. [Porter, Forbes D.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Natl Inst Hlth, Divis Translat Med, Bethesda, MD 20892 USA. RP Schultz, C (reprint author), European Mol Biol Lab, Cell Biol & Biophys Unit, D-69117 Heidelberg, Germany. EM schultz@embl.de OI Hoeglinger, Doris/0000-0002-6862-0076 FU European Union Seventh Framework Programme [289278]; Deutsche Forschungsgemeinschaft [Transregio 83]; intramural research program of the National Institute of Child Health and Human Development; European Union FX We thank the Advanced Light Microscopy Facility and the Proteomic Core Facility of the European Molecular Biology Laboratory (EMBL). This research has received funding from the European Union Seventh Framework Programme under Grant Agreement 289278-"Sphingonet"- as well as Transregio 83 funded by the Deutsche Forschungsgemeinschaft. This work was partially supported by the intramural research program of the National Institute of Child Health and Human Development. M.S. is a fellow of the EMBL Interdisciplinary Postdoc Program, cofunded by the European Union. NR 46 TC 0 Z9 0 U1 4 U2 4 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 14 PY 2017 VL 114 IS 7 BP 1566 EP 1571 DI 10.1073/pnas.1611096114 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK5TR UT WOS:000393989300058 PM 28154130 ER PT J AU Sripathy, S Leko, V Adrianse, RL Loe, T Foss, EJ Dalrymple, E Lao, U Gatbonton-Schwager, T Carter, KT Payer, B Paddison, PJ Grady, WM Lee, JT Bartolomei, MS Bedalov, A AF Sripathy, Smitha Leko, Vid Adrianse, Robin L. Loe, Taylor Foss, Eric J. Dalrymple, Emily Lao, Uyen Gatbonton-Schwager, Tonibelle Carter, Kelly T. Payer, Bernhard Paddison, Patrick J. Grady, William M. Lee, Jeannie T. Bartolomei, Marisa S. Bedalov, Antonio TI Screen for reactivation of MeCP2 on the inactive X chromosome identifies the BMP/TGF-beta superfamily as a regulator of XIST expression SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE XIST; X inactivation; MeCP2; Rett syndrome; BMP/TGF-beta ID DE-LANGE-SYNDROME; RETT-SYNDROME; SACCHAROMYCES-CEREVISIAE; INTELLECTUAL DISABILITY; HISTONE ACETYLATION; DOSAGE COMPENSATION; DNA DEMETHYLATION; MUTATIONS; RNF12; TRANSCRIPTION AB Rett syndrome (RS) is a debilitating neurological disorder affecting mostly girls with heterozygous mutations in the gene encoding the methyl-CpG-binding protein MeCP2 on the X chromosome. Because restoration of MeCP2 expression in a mouse model reverses neurologic deficits in adult animals, reactivation of the wild-type copy of MeCP2 on the inactive X chromosome (Xi) presents a therapeutic opportunity in RS. To identify genes involved in MeCP2 silencing, we screened a library of 60,000 shRNAs using a cell line with a MeCP2 reporter on the Xi and found 30 genes clustered in seven functional groups. More than half encoded proteins with known enzymatic activity, and six were members of the bone morphogenetic protein (BMP)/TGF-beta pathway. shRNAs directed against each of these six genes down-regulated X-inactive specific transcript (XIST), a key player in X-chromosome inactivation that encodes an RNA that coats the silent X chromosome, and modulation of regulators of this pathway both in cell culture and in mice demonstrated robust regulation of XIST. Moreover, we show that Rnf12, an X-encoded ubiquitin ligase important for initiation of X-chromosome inactivation and XIST transcription in ES cells, also plays a role in maintenance of the inactive state through regulation of BMP/TGF-beta signaling. Our results identify pharmacologically suitable targets for reactivation of MeCP2 on the Xi and a genetic circuitry that maintains XIST expression and X-chromosome inactivation in differentiated cells. C1 [Sripathy, Smitha; Leko, Vid; Adrianse, Robin L.; Loe, Taylor; Foss, Eric J.; Dalrymple, Emily; Lao, Uyen; Gatbonton-Schwager, Tonibelle; Carter, Kelly T.; Grady, William M.; Bedalov, Antonio] Fred Hutchinson Canc Res Ctr, Clin Res Div, Seattle, WA 98109 USA. [Payer, Bernhard; Lee, Jeannie T.] Massachusetts Gen Hosp, Howard Hughes Med Inst, Boston, MA 02114 USA. [Payer, Bernhard; Lee, Jeannie T.] Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA. [Payer, Bernhard; Lee, Jeannie T.] Harvard Med Sch, Dept Genet, Boston, MA 02115 USA. [Paddison, Patrick J.] Fred Hutchinson Canc Res Ctr, Human Biol Div, Seattle, WA 98109 USA. [Grady, William M.] Univ Washington, Sch Med, Div Gastroenterol, Seattle, WA 98195 USA. [Bartolomei, Marisa S.] Univ Penn, Dept Cell & Dev Biol, Perelman Sch Med, Epigenet Program, Philadelphia, PA 19104 USA. [Bedalov, Antonio] Univ Washington, Sch Med, Dept Biochem & Med, Seattle, WA 98195 USA. [Leko, Vid] NHLBI, Hematol Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Bedalov, A (reprint author), Fred Hutchinson Canc Res Ctr, Clin Res Div, Seattle, WA 98109 USA.; Lee, JT (reprint author), Massachusetts Gen Hosp, Howard Hughes Med Inst, Boston, MA 02114 USA.; Lee, JT (reprint author), Massachusetts Gen Hosp, Dept Mol Biol, Boston, MA 02114 USA.; Lee, JT (reprint author), Harvard Med Sch, Dept Genet, Boston, MA 02115 USA.; Bedalov, A (reprint author), Univ Washington, Sch Med, Dept Biochem & Med, Seattle, WA 98195 USA. EM lee@molbio.mgh.harvard.edu; abedalov@fhcrc.org FU Rett Syndrome Research Trust FX We thank Kathrin Plath for providing us with CMVluciferase/.XIST mouse embryonic fibroblasts, Joost Gribnau for the Rnf12 expression plasmids, Ross Dickins for shRNA library, and Christine Disteche for Patski cells. This work was supported by grants from the Rett Syndrome Research Trust (to A.B., M.S.B., and J.T.L.). NR 52 TC 0 Z9 0 U1 1 U2 1 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 14 PY 2017 VL 114 IS 7 BP 1619 EP 1624 DI 10.1073/pnas.1621356114 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK5TR UT WOS:000393989300067 PM 28143937 ER PT J AU Taniguchi, K Moroishi, T de Jong, PR Krawczyk, M Grebbin, BM Luo, HY Xu, RH Golob-Schwarzl, N Schweiger, C Wang, KP Di Caroa, G Feng, Y Fearon, ER Raz, E Kenner, L Farin, HF Guan, KL Haybaeck, J Datz, C Zhang, K Karin, M AF Taniguchi, Koji Moroishi, Toshiro de Jong, Petrus R. Krawczyk, Michal Grebbin, Britta Moyo Luo, Huiyan Xu, Rui-hua Golob-Schwarzl, Nicole Schweiger, Caroline Wang, Kepeng Di Caroa, Giuseppe Feng, Ying Fearon, Eric R. Raz, Eyal Kenner, Lukas Farin, Henner F. Guan, Kun-Liang Haybaeck, Johannes Datz, Christian Zhang, Kang Karin, Michael TI YAP-IL-6ST autoregulatory loop activated on APC loss controls colonic tumorigenesis SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE colorectal cancer; adenomatous polyposis coli; IL-6ST/gp130; YAP; STAT3 ID COLORECTAL-CANCER; IL-6 FAMILY; STEM-CELLS; IN-VITRO; INFLAMMATION; YAP/TAZ; INACTIVATION; REGENERATION; HOMEOSTASIS; METASTASIS AB Loss of tumor suppressor adenomatous polyposis coli (APC) activates beta-catenin to initiate colorectal tumorigenesis. However, beta-catenin (CTNNB1) activating mutations rarely occur in human colorectal cancer (CRC). We found that APC loss also results in up-regulation of IL-6 signal transducer (IL-6ST/gp130), thereby activating Src family kinases (SFKs), YAP, and STAT3, which are simultaneously up-regulated in the majority of human CRC. Although, initial YAP activation, which stimulates IL6ST gene transcription, may be caused by reduced serine phosphorylation, sustained YAP activation depends on tyrosine phosphorylation by SFKs, whose inhibition, along with STAT3-activating JAK kinases, causes regression of established colorectal tumors. These results explain why APC loss is a more potent initiating event than the mere activation of CTNNB1. C1 [Taniguchi, Koji; Wang, Kepeng; Di Caroa, Giuseppe; Karin, Michael] Univ Calif San Diego, Lab Gene Regulat & Signal Transduct, La Jolla, CA 92093 USA. [Taniguchi, Koji; Wang, Kepeng; Di Caroa, Giuseppe; Karin, Michael] Univ Calif San Diego, Dept Pharmacol, La Jolla, CA 92093 USA. [Taniguchi, Koji; Wang, Kepeng; Di Caroa, Giuseppe; Karin, Michael] Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA. [Taniguchi, Koji] Kyushu Univ, Grad Sch Med Sci, Dept Surg & Sci, Fukuoka 8128582, Japan. [Taniguchi, Koji] Keio Univ, Sch Med, Dept Microbiol & Immunol, Tokyo 1608582, Japan. [Moroishi, Toshiro; Guan, Kun-Liang] Univ Calif San Diego, Moores Canc Ctr, Dept Pharmacol, La Jolla, CA 92093 USA. [de Jong, Petrus R.; Raz, Eyal] Univ Calif San Diego, Sch Med, Dept Med, La Jolla, CA 92093 USA. [de Jong, Petrus R.] NCI, Sanford Burnham Prebys Med Discovery Inst, Designated Canc Ctr, La Jolla, CA 92037 USA. [Krawczyk, Michal; Grebbin, Britta Moyo; Luo, Huiyan; Zhang, Kang] Univ Calif San Diego, Inst Genom Med, La Jolla, CA 92093 USA. [Grebbin, Britta Moyo; Farin, Henner F.] German Canc Consortium, D-69120 Heidelberg, Germany. [Grebbin, Britta Moyo; Farin, Henner F.] Georg Speyer Haus, Inst Tumor Biol & Expt Therapy, D-60596 Frankfurt, Germany. [Farin, Henner F.] German Canc Res Ctr, D-69120 Heidelberg, Germany. [Luo, Huiyan; Xu, Rui-hua] Sun Yat Sen Univ, Ctr Canc, Collaborat Innovat Ctr Canc Med, State Key Lab Oncol, Guangzhou 510060, Guangdong, Peoples R China. [Golob-Schwarzl, Nicole; Schweiger, Caroline; Haybaeck, Johannes] Med Univ Graz, Inst Pathol, A-8036 Graz, Austria. [Wang, Kepeng] Univ Connecticut, Ctr Hlth, Sch Med, Dept Immunol, Farmington, CT USA. [Feng, Ying; Fearon, Eric R.] Univ Michigan, Sch Med, Dept Internal Med, Ann Arbor, MI 48109 USA. [Fearon, Eric R.] Univ Michigan, Sch Med, Dept Human Genet, Ann Arbor, MI 48109 USA. [Fearon, Eric R.] Univ Michigan, Sch Med, Dept Pathol, Ann Arbor, MI 48109 USA. [Kenner, Lukas] Med Univ Vienna, Clin Inst Pathol, A-1090 Vienna, Austria. [Kenner, Lukas] Med Univ Vienna, Ludwig Boltzmann Inst Canc Res, A-1090 Vienna, Austria. [Kenner, Lukas] Univ Vet Med Vienna, Dept Pathol Lab Anim, A-1210 Vienna, Austria. [Haybaeck, Johannes] Otto von Guericke Univ, Dept Pathol, D-39120 Magdeburg, Germany. [Datz, Christian] Paracelsus Private Univ Salzburg, Teaching Hosp, Hosp Oberndorf, Dept Internal Med, A-5110 Oberndorf, Austria. [Karin, Michael] Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 USA. RP Karin, M (reprint author), Univ Calif San Diego, Lab Gene Regulat & Signal Transduct, La Jolla, CA 92093 USA.; Karin, M (reprint author), Univ Calif San Diego, Dept Pharmacol, La Jolla, CA 92093 USA.; Karin, M (reprint author), Univ Calif San Diego, Dept Pathol, La Jolla, CA 92093 USA.; Karin, M (reprint author), Univ Calif San Diego, Moores Canc Ctr, La Jolla, CA 92093 USA. EM karinoffice@ucsd.edu OI Kenner, Lukas/0000-0003-2184-1338; de Jong, Petrus/0000-0003-2321-1153 FU Japan Society for the Promotion of Science; Uehara Memorial Foundation Fellowship; Mochida Memorial Foundation for Medical and Pharmaceutical Research; Kanae Foundation for the Promotion of Medical Science; KAKENHI [15K21775]; "Kibou" Projects; Italian Association for Cancer Research; Marie Curie Actions European Union-People-COFUND; Crohn's and Colitis Foundation of America SRA [330251]; European Commission Marie Curie program; Austrian Science Funds FWF; Innovative Medicines Initiative Joint Undertaking [115234]; European Union's Seventh Framework Programme (FP7); European Federation of Pharmaceutical Industries and Associations companies; SPAR Austria; NIH [AI043477]; Incyte Inc; Ben and Wanda Hildyard Chair for Mitochondrial and Metabolic Diseases; [P26011]; [P29251] FX We thank Drs. D. Pan (Johns Hopkins University) and S. Akira (Osaka University) for YapF/F and Stat3F/F mice, respectively; Drs. D. L. Gumucio (University of Michigan) for the 12.4- kb Villin promoter; C. A. O'Brien (University of Arkansas for Medical Sciences) for the gp130-luciferase plasmid; T. Sato (Keio University), H. Clevers (Hubrecht Institute), and Y. Hippo (National Cancer Center Research Institute) for protocols describing intestinal organoid culture; C. Kuo (Stanford University) for R-spondin1-producing cells; J. Zhao [University of California, San Diego (UCSD) Transgenic Mouse and Gene Targeting Core], L. Gapuz, R. Ly, and N. Varki (UCSD Histology Core), N. Hiramatsu, S. Yamachika, S. I. Grivennikov, A. Chang, and T. Lee for technical advice and assistance; and Cell Signaling, Santa Cruz Biotechnology, GeneTex, and Incyte for antibodies and reagents. This work was supported by Postdoctoral Fellowship for Research Abroad and Research Fellowship for Young Scientists from the Japan Society for the Promotion of Science, a Uehara Memorial Foundation Fellowship, the Mochida Memorial Foundation for Medical and Pharmaceutical Research, the Kanae Foundation for the Promotion of Medical Science, KAKENHI (15K21775), and the "Kibou" Projects (all to K.T.); FIRC for Abroad and iCare fellowship funded from the Italian Association for Cancer Research and Marie Curie Actions European Union-People-COFUND (G.D.C.); and Crohn's and Colitis Foundation of America SRA#330251 (to E.R.). L.K. is supported by the European Commission Marie Curie 2020 program as a Co-Coordinator within the "ALKATRAS' project as well as by the Austrian Science Funds FWF; and Grants P26011 and P29251. TMA generation was supported by the Innovative Medicines Initiative Joint Undertaking under Grant 115234 (OncoTrack), resources of which are composed of financial contributions from the European Union's Seventh Framework Programme (FP7/2007-2013) and European Federation of Pharmaceutical Industries and Associations companies' in-kind contribution (www.imi.europa.eu) (to J.H.). C.D. was supported by SPAR Austria. Research at UCSD was supported by the NIH (AI043477) and Incyte Inc. M. Karin is an American Cancer Society Research Professor and holder of the Ben and Wanda Hildyard Chair for Mitochondrial and Metabolic Diseases. NR 47 TC 0 Z9 0 U1 4 U2 4 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 14 PY 2017 VL 114 IS 7 BP 1643 EP 1648 DI 10.1073/pnas.1620290114 PG 6 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK5TR UT WOS:000393989300071 PM 28130546 ER PT J AU Tomasi, DG Shokri-Kojori, E Volkow, ND AF Tomasi, Dardo G. Shokri-Kojori, Ehsan Volkow, Nora D. TI Brain Network Dynamics Adhere to a Power Law SO FRONTIERS IN NEUROSCIENCE LA English DT Article DE FCDM; ALFF; lFCD; functional connectivity (FC); graph theory analysis; brain networks; Taylor's law; numerical simulations ID HUMAN CONNECTOME PROJECT; FUNCTIONAL CONNECTIVITY; RESTING-STATE; BINOCULAR-RIVALRY; DECISION-MAKING; FMRI; MRI; PATTERNS; TRACKING; CORTEX AB The temporal dynamics of complex networks such as the Internet is characterized by a power scaling between the temporal mean and dispersion of signals at each network node. Here we tested the hypothesis that the temporal dynamics of the brain networks is characterized by a similar power law. This realization could be useful to assess the effects of randomness and external modulators on the brain network dynamics. Simulated data using a well-stablished random diffusion model allowed us to predict that the temporal dispersion of the amplitude of low frequency fluctuations (ALFF) and that of the local functional connectivity density (lFCD) scale with their temporal means. We tested this hypothesis in open-access resting-state functional magnetic resonance imaging datasets from 66 healthy subjects. A robust power law emerged from the temporal dynamics of ALFF and lFCD metrics, which was insensitive to the methods used for the computation of the metrics. The scaling exponents (ALFF: 0.8 +/- 0.1; lFCD: 1.1 +/- 0.1; mean +/- SD) decreased with age and varied significantly across brain regions; multimodal cortical areas exhibited lower scaling exponents, consistent with a stronger influence of external inputs, than limbic and subcortical regions, which exhibited higher scaling exponents, consistent with a stronger influence of internal randomness. Findings are consistent with the notion that external inputs govern neuronal communication in the brain and that their relative influence differs between brain regions. Further studies will assess the potential of this metric as biomarker to characterize neuropathology. C1 [Tomasi, Dardo G.; Shokri-Kojori, Ehsan; Volkow, Nora D.] NIAAA, Bethesda, MD 20892 USA. [Volkow, Nora D.] Natl Inst Drug Abuse, Bethesda, MD USA. RP Tomasi, DG (reprint author), NIAAA, Bethesda, MD 20892 USA. EM tomasidg@mail.nih.gov FU 16 NIH Institutes and Centers [1U54MH091657]; McDonnell Center for Systems Neuroscience at Washington University; National Institute on Alcohol Abuse and Alcoholism [Y1AA-3009] FX Data was provided by the Human Connectome Project (HCP), WU-Minn Consortium (Principal Investigators: David Van Essen and Kamil Ugurbil; 1U54MH091657) funded by the 16 NIH Institutes and Centers that support the NIH Blueprint for Neuroscience Research and by the McDonnell Center for Systems Neuroscience at Washington University. This work was accomplished with support from the National Institute on Alcohol Abuse and Alcoholism (Y1AA-3009). NR 44 TC 0 Z9 0 U1 1 U2 1 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1662-453X J9 FRONT NEUROSCI-SWITZ JI Front. Neurosci. PD FEB 14 PY 2017 VL 11 AR 72 DI 10.3389/fnins.2017.00072 PG 9 WC Neurosciences SC Neurosciences & Neurology GA EK4RS UT WOS:000393915100001 PM 28261049 ER PT J AU Woo, CW Schmidt, L Krishnan, A Jepma, M Roy, M Lindquist, MA Atlas, LY Wager, TD AF Woo, Choong-Wan Schmidt, Liane Krishnan, Anjali Jepma, Marieke Roy, Mathieu Lindquist, Martin A. Atlas, Lauren Y. Wager, Tor D. TI Quantifying cerebral contributions to pain beyond nociception SO NATURE COMMUNICATIONS LA English DT Article ID NUCLEUS-ACCUMBENS; NEUROPATHIC PAIN; FUNCTIONAL CONNECTIVITY; PHYSICAL PAIN; BACK-PAIN; PREFRONTAL CORTEX; BRAIN MEDIATORS; BASAL GANGLIA; FMRI; MECHANISMS AB Cerebral processes contribute to pain beyond the level of nociceptive input and mediate psychological and behavioural influences. However, cerebral contributions beyond nociception are not yet well characterized, leading to a predominant focus on nociception when studying pain and developing interventions. Here we use functional magnetic resonance imaging combined with machine learning to develop a multivariate pattern signature-termed the stimulus intensity independent pain signature-1 (SIIPS1)-that predicts pain above and beyond nociceptive input in four training data sets (Studies 1-4, N = 137). The SIIPS1 includes patterns of activity in nucleus accumbens, lateral prefrontal and parahippocampal cortices, and other regions. In cross-validated analyses of Studies 1-4 and in two independent test data sets (Studies 5-6, N = 46), SIIPS1 responses explain variation in trial-by-trial pain ratings not captured by a previous fMRI-based marker for nociceptive pain. In addition, SIIPS1 responses mediate the pain-modulating effects of three psychological manipulations of expectations and perceived control. The SIIPS1 provides an extensible characterization of cerebral contributions to pain and specific brain targets for interventions. C1 [Woo, Choong-Wan; Wager, Tor D.] Univ Colorado, Dept Psychol & Neurosci, Boulder, CO 80309 USA. [Woo, Choong-Wan; Wager, Tor D.] Univ Colorado, Inst Cognit Sci, Boulder, CO 80309 USA. [Schmidt, Liane] INSEAD, F-77300 Fontainebleau, France. [Schmidt, Liane] Ecole Normale Super, INSERM U960, Dept Cognit Sci, Cognit Neurosci Lab, F-75005 Paris, France. [Krishnan, Anjali] CUNY Brooklyn Coll, Dept Psychol, Brooklyn, NY 11210 USA. [Jepma, Marieke] Leiden Univ, Inst Psychol, Cognit Psychol Unit, NL-2300 Leiden, Netherlands. [Jepma, Marieke] Leiden Univ, Leiden Inst Brain & Cognit, NL-2300 Leiden, Netherlands. [Roy, Mathieu] McGill Univ, Dept Psychol, Montreal, PQ H3A 0G4, Canada. [Lindquist, Martin A.] Johns Hopkins Univ, Dept Biostat, Baltimore, MD 21211 USA. [Atlas, Lauren Y.] NIH, Natl Ctr Complementary & Integrat Hlth, Bethesda, MD 20892 USA. [Atlas, Lauren Y.] NIDA, NIH, Rockville, MD 20852 USA. [Woo, Choong-Wan] Inst Basic Sci, Ctr Neurosci Imaging Res, Suwon 16419, South Korea. [Woo, Choong-Wan] Sungkyunkwan Univ, Dept Biomed Engn, Suwon 16419, South Korea. RP Wager, TD (reprint author), Univ Colorado, Dept Psychol & Neurosci, Boulder, CO 80309 USA.; Wager, TD (reprint author), Univ Colorado, Inst Cognit Sci, Boulder, CO 80309 USA. EM tor.wager@colorado.edu OI Woo, Choong-Wan/0000-0002-7423-5422 FU NIH [R01DA035484, R01MH076136]; Intramural Research program of the NIH's National Center for Complementary and Integrative Health; VENI grant of the Netherlands Organization for Scientific Research FX This work was funded by NIH R01DA035484 and R01MH076136 (T.D.W.), the Intramural Research program of the NIH's National Center for Complementary and Integrative Health (L.Y.A) and the VENI grant of the Netherlands Organization for Scientific Research (M.J.). NR 75 TC 0 Z9 0 U1 4 U2 4 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 14 PY 2017 VL 8 AR 14211 DI 10.1038/ncomms14211 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK3VV UT WOS:000393857400001 PM 28195170 ER PT J AU Webster, DE Suver, C Doerr, M Mounts, E Domenico, L Petrie, T Leachman, SA Trister, AD Bot, BM AF Webster, Dan E. Suver, Christine Doerr, Megan Mounts, Erin Domenico, Lisa Petrie, Tracy Leachman, Sancy A. Trister, Andrew D. Bot, Brian M. TI Data Descriptor: The Mole Mapper Study, mobile phone skin imaging and melanoma risk data collected using ResearchKit SO SCIENTIFIC DATA LA English DT Article AB Sensor-embedded phones are an emerging facilitator for participant-driven research studies. Skin cancer research is particularly amenable to this approach, as phone cameras enable self-examination and documentation of mole abnormalities that may signal a progression towards melanoma. Aggregation and open sharing of this participant-collected data can be foundational for research and the development of early cancer detection tools. Here we describe data from Mole Mapper, an iPhone-based observational study built using the Apple ResearchKit framework. The Mole Mapper app was designed to collect participant-provided images and measurements of moles, together with demographic and behavioral information relating to melanoma risk. The study cohort includes 2,069 participants who contributed 1,920 demographic surveys, 3,274 mole measurements, and 2,422 curated mole images. Survey data recapitulates associations between melanoma and known demographic risks, with red hair as the most significant factor in this cohort. Participant-provided mole measurements indicate an average mole size of 3.95 mm. These data have been made available to engage researchers in a collaborative, multidisciplinary effort to better understand and prevent melanoma. C1 [Webster, Dan E.] NCI, Bethesda, MD 20892 USA. [Suver, Christine; Doerr, Megan; Mounts, Erin; Trister, Andrew D.; Bot, Brian M.] Sage Bionetworks, Seattle, WA 98109 USA. [Domenico, Lisa; Petrie, Tracy; Leachman, Sancy A.] Oregon Hlth & Sci Univ, Portland, OR 97239 USA. RP Bot, BM (reprint author), Sage Bionetworks, Seattle, WA 98109 USA.; Leachman, SA (reprint author), Oregon Hlth & Sci Univ, Portland, OR 97239 USA. EM leachmas@ohsu.edu; brian.bot@sagebase.org NR 9 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2052-4463 J9 SCI DATA JI Sci. Data PD FEB 14 PY 2017 VL 4 DI 10.1038/sdata.2017.5 PG 8 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK3VJ UT WOS:000393856200001 ER PT J AU Khan, JM Schenke, WH Sonmez, M Lederman, RJ AF Khan, Jaffar M. Schenke, William H. Sonmez, Merdim Lederman, Robert J. TI Guidewire Electrosurgery Optimization For LAMPOON SO JACC-CARDIOVASCULAR INTERVENTIONS LA English DT Meeting Abstract C1 [Khan, Jaffar M.; Schenke, William H.; Sonmez, Merdim; Lederman, Robert J.] NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1936-8798 EI 1876-7605 J9 JACC-CARDIOVASC INTE JI JACC-Cardiovasc. Interv. PD FEB 13 PY 2017 VL 10 IS 3 SU S MA CRT-800.45 BP S76 EP S76 PG 1 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EP2MJ UT WOS:000397217000207 ER PT J AU Le, MT Kasprzak, WK Kim, T Gao, F Young, MYL Yuan, XF Shapiro, BA Seog, J Simon, AE AF Le, My-Tra Kasprzak, Wojciech K. kim, Taejin Gao, Feng Young, Megan Y. L. Yuan, Xuefeng Shapiro, Bruce A. Seog, Joonil Simon, Anne E. TI Folding behavior of a T-shaped, ribosome-binding translation enhancer implicated in a wide-spread conformational switch SO ELIFE LA English DT Article ID TURNIP-CRINKLE-VIRUS; PARTICLE MESH EWALD; OPTICAL TWEEZERS; NUCLEIC-ACIDS; MOLECULAR-DYNAMICS; GENETIC-CONTROL; METAL-IONS; VIRAL-RNA; RIBOSWITCHES; FORCE AB Turnip crinkle virus contains a T-shaped, ribosome-binding, translation enhancer (TSS) in its 3'UTR that serves as a hub for interactions throughout the region. The viral RNA-dependent RNA polymerase (RdRp) causes the TSS/surrounding region to undergo a conformational shift postulated to inhibit translation. Using optical tweezers (OT) and steered molecular dynamic simulations (SMD), we found that the unusual stability of pseudoknotted element H4a/psi(3) required five upstream adenylates, and H4a/psi(3) was necessary for cooperative association of two other hairpins (H5/H4b) in Mg2+. SMD recapitulated the TSS unfolding order in the absence of Mg2+, showed dependence of the resistance to pulling on the 3D orientation and gave structural insights into the measured contour lengths of the TSS structure elements. Adenylate mutations eliminated one-site RdRp binding to the 3'UTR, suggesting that RdRp binding to the adenylates disrupts H4a/psi(3), leading to loss of H5/H4b interaction and promoting a conformational switch interrupting translation and promoting replication. C1 [Le, My-Tra; Gao, Feng; Young, Megan Y. L.; Yuan, Xuefeng; Simon, Anne E.] Univ Maryland, Dept Cell Biol & Mol Genet, College Pk, MD 20742 USA. [Kasprzak, Wojciech K.] Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Bas Sci Program, Frederick, MD USA. [kim, Taejin; Shapiro, Bruce A.] Natl Canc Inst, RNA Biol Lab, Ctr Canc Res, Frederick, MD USA. [Seog, Joonil] Univ Maryland, Dept Mat Sci & Engn, College Pk, MD 20742 USA. RP Le, MT; Simon, AE (reprint author), Univ Maryland, Dept Cell Biol & Mol Genet, College Pk, MD 20742 USA. EM my.letra@gmail.com; simona@umd.edu FU National Science Foundation [MCB-1411836]; National Institutes of Health [R21A1117882-01, 2T32A1051967-06A1]; National Cancer Institute FX National Science Foundation MCB-1411836 My-Tra Le Feng Gao Megan Y L Young Xuefeng Yuan Anne E Simon; National Institutes of Health R21A1117882-01 My-Tra Le Feng Gao Anne E Simon; National Cancer Institute Intramural Wojciech K Kasprzak Taejin Kim Bruce A Shapiro; National Institutes of Health 2T32A1051967-06A1 Megan Y L Young Anne E Simon NR 64 TC 0 Z9 0 U1 4 U2 4 PU ELIFE SCIENCES PUBLICATIONS LTD PI CAMBRIDGE PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND SN 2050-084X J9 ELIFE JI eLife PD FEB 13 PY 2017 VL 6 AR e22883 DI 10.7554/eLife.22883 PG 24 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EN5ZG UT WOS:000396083700001 ER PT J AU Dewan, R Pemov, A Dutra, AS Pak, ED Edwards, NA Ray-Chaudhury, A Hansen, NF Chandrasekharappa, SC Mullikin, JC Asthagiri, AR Heiss, JD Stewart, DR Germanwala, AV AF Dewan, Ramita Pemov, Alexander Dutra, Amalia S. Pak, Evgenia D. Edwards, Nancy A. Ray-Chaudhury, Abhik Hansen, Nancy F. Chandrasekharappa, Settara C. Mullikin, James C. Asthagiri, Ashok R. Heiss, John D. Stewart, Douglas R. Germanwala, Anand V. CA NISC Comparative Sequencing Progra TI First insight into the somatic mutation burden of neurofibromatosis type 2-associated grade I and grade II meningiomas: a case report comprehensive genomic study of two cranial meningiomas with vastly different clinical presentation SO BMC CANCER LA English DT Article DE Whole exome sequencing; Single nucleotide polymorphism; Spectral karyotyping; NF2 gene; Somatic mutation; Case report ID CANCER; TUMORS; VARIANTS; FEATURES; CELLS; AKT1; SMO; NF2 AB Background: Neurofibromatosis type 2 (NF2) is a rare autosomal dominant nervous system tumor predisposition disorder caused by constitutive inactivation of one of the two copies of NF2. Meningiomas affect about one half of NF2 patients, and are associated with a higher disease burden. Currently, the somatic mutation landscape in NF2-associated meningiomas remains largely unexamined. Case presentation: Here, we present an in-depth genomic study of benign and atypical meningiomas, both from a single NF2 patient. While the grade I tumor was asymptomatic, the grade II tumor exhibited an unusually high growth rate: expanding to 335 times its initial volume within one year. The genomes of both tumors were examined by whole-exome sequencing (WES) complemented with spectral karyotyping (SKY) and SNP-array copy-number analyses. To better understand the clonal composition of the atypical meningioma, the tumor was divided in four sections and each section was investigated independently. Both tumors had second copy inactivation of NF2, confirming the central role of the gene in meningioma formation. The genome of the benign tumor closely resembled that of a normal diploid cell and had only one other deleterious mutation (EPHB3). In contrast, the chromosomal architecture of the grade II tumor was highly re-arranged, yet uniform among all analyzed fragments, implying that this large and fast growing tumor was composed of relatively few clones. Besides multiple gains and losses, the grade II meningioma harbored numerous chromosomal translocations. WES analysis of the atypical tumor identified deleterious mutations in two genes: ADAMTSL3 and CAPN5 in all fragments, indicating that the mutations were present in the cell undergoing fast clonal expansion Conclusions: This is the first WES study of NF2-associated meningiomas. Besides second NF2 copy inactivation, we found low somatic burden in both tumors and high level of genomic instability in the atypical meningioma. Genomic instability resulting in altered gene dosage and compromised structural integrity of multiple genes may be the primary reason of the high growth rate for the grade II tumor. Further study of ADAMTSL3 and CAPN5 may lead to elucidation of their molecular implications in meningioma pathogenesis. C1 [Germanwala, Anand V.] Loyola Univ, Stritch Sch Med, Dept Neurol Surg, Maywood, IL 60153 USA. [Germanwala, Anand V.] Edward Hines Jr VA Hosp, Dept Otolaryngol, 2160 South First Ave, Maywood, IL 60153 USA. [Dewan, Ramita; Edwards, Nancy A.; Ray-Chaudhury, Abhik; Heiss, John D.] NINDS, Genet Dis Res Branch, NIH, Bethesda, MD 20892 USA. [Pemov, Alexander; Stewart, Douglas R.] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Rockville, MD USA. [Dutra, Amalia S.; Pak, Evgenia D.] NHGRI, NIH, Genet Dis Res Branch, Bethesda, MD USA. [Hansen, Nancy F.; Chandrasekharappa, Settara C.; Mullikin, James C.] NHGRI, NIH, Canc Genet & Comparat Genom Branch, Bethesda, MD USA. [Mullikin, James C.] NHGRI, NIH, NIH Intramural Sequencing Ctr, Rockville, MD USA. [Asthagiri, Ashok R.] Univ Virginia, Sch Med, Dept Neurol Surg, Charlottesville, VA 22908 USA. RP Germanwala, AV (reprint author), Loyola Univ, Stritch Sch Med, Dept Neurol Surg, Maywood, IL 60153 USA.; Germanwala, AV (reprint author), Edward Hines Jr VA Hosp, Dept Otolaryngol, 2160 South First Ave, Maywood, IL 60153 USA. EM agermanwala@gmail.com FU Intramural Research Program of the National Institute of Neurologic Disease and Stroke (NINDS); Division of Cancer Epidemiology and Genetics of the National Cancer Institute (NCI); National Human Genome Research Institute (NHGRI) FX This study was supported by funding from the Intramural Research Program of the National Institute of Neurologic Disease and Stroke (NINDS), the Division of Cancer Epidemiology and Genetics of the National Cancer Institute (NCI), and the National Human Genome Research Institute (NHGRI). The roles of each funding body were as follows: NINDS for study design, collection of data, and writing of the manuscript; NCI for study design, collection, analysis, and interpretation of data, and writing of the manuscript; and NHGRI for collection, analysis, and interpretation of data. NR 33 TC 0 Z9 0 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2407 J9 BMC CANCER JI BMC Cancer PD FEB 13 PY 2017 VL 17 AR 127 DI 10.1186/s12885-017-3127-6 PG 10 WC Oncology SC Oncology GA EK3QX UT WOS:000393842100004 PM 28193203 ER PT J AU Arca, B Lombardo, F Struchiner, CJ Ribeiro, JMC AF Arca, Bruno Lombardo, Fabrizio Struchiner, Claudio J. Ribeiro, Jose M. C. TI Anopheline salivary protein genes and gene families: an evolutionary overview after the whole genome sequence of sixteen Anopheles species SO BMC GENOMICS LA English DT Article DE Salivary glands; Salivary proteins; Anophelines; Mosquito saliva; Vector biology; Evolution; Salivary markers; Human exposure to malaria vectors; Positive selection ID ADULT FEMALE MOSQUITO; FLY LUTZOMYIA-LONGIPALPIS; RICH SECRETORY PROTEINS; INDUCED PLATELET-AGGREGATION; IMMUNO-EPIDEMIOLOGIC TOOL; EVALUATING HUMAN EXPOSURE; MALARIA VECTOR MOSQUITO; VON-WILLEBRAND-FACTOR; AEDES-AEGYPTI; ANTIBODY-RESPONSE AB Background: Mosquito saliva is a complex cocktail whose pharmacological properties play an essential role in blood feeding by counteracting host physiological response to tissue injury. Moreover, vector borne pathogens are transmitted to vertebrates and exposed to their immune system in the context of mosquito saliva which, in virtue of its immunomodulatory properties, can modify the local environment at the feeding site and eventually affect pathogen transmission. In addition, the host antibody response to salivary proteins may be used to assess human exposure to mosquito vectors. Even though the role of quite a few mosquito salivary proteins has been clarified in the last decade, we still completely ignore the physiological role of many of them as well as the extent of their involvement in the complex interactions taking place between the mosquito vectors, the pathogens they transmit and the vertebrate host. The recent release of the genomes of 16 Anopheles species offered the opportunity to get insights into function and evolution of salivary protein families in anopheline mosquitoes. Results: Orthologues of fifty three Anopheles gambiae salivary proteins were retrieved and annotated from 18 additional anopheline species belonging to the three subgenera Cellia, Anopheles, and Nyssorhynchus. Our analysis included 824 full-length salivary proteins from 24 different families and allowed the identification of 79 novel salivary genes and re-annotation of 379 wrong predictions. The comparative, structural and phylogenetic analyses yielded an unprecedented view of the anopheline salivary repertoires and of their evolution over 100 million years of anopheline radiation shedding light on mechanisms and evolutionary forces that contributed shaping the anopheline sialomes. Conclusions: We provide here a comprehensive description, classification and evolutionary overview of the main anopheline salivary protein families and identify two novel candidate markers of human exposure to malaria vectors worldwide. This anopheline sialome catalogue, which is easily accessible as hyperlinked spreadsheet, is expected to be useful to the vector biology community and to improve the capacity to gain a deeper understanding of mosquito salivary proteins facilitating their possible exploitation for epidemiological and/or pathogen-vector-host interaction studies. C1 [Arca, Bruno; Lombardo, Fabrizio] Sapienza Univ, Dept Publ Hlth & Infect Dis, Div Parasitol, Piazzale Aldo Moro 5, I-00185 Rome, Italy. [Struchiner, Claudio J.] Fundacao Oswaldo Cruz, Ave Brasil, BR-4365 Rio De Janeiro, Brazil. [Struchiner, Claudio J.] Univ Estado Rio de Janeiro, Inst Med Social, Rio De Janeiro, Brazil. [Ribeiro, Jose M. C.] NIAID, Lab Malaria & Vector Res, 12735 Twinbrook Pkwy, Rockville, MD 20852 USA. RP Arca, B (reprint author), Sapienza Univ, Dept Publ Hlth & Infect Dis, Div Parasitol, Piazzale Aldo Moro 5, I-00185 Rome, Italy. EM bruno.arca@uniroma1.it FU European Union [228421]; Ministry of Education, University and Research (MIUR) [2010C2LKKJ_004]; Brazilian Research Council (CNPq); FAPERJ; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institute of Health, USA FX BA was supported by funds from the European Union grant INFRAVEC (228421) and from the Ministry of Education, University and Research (MIUR) grant SKINFLAM (2010C2LKKJ_004). JMCR by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institute of Health, USA. CJS was supported by Brazilian Research Council (CNPq) and FAPERJ. NR 152 TC 0 Z9 0 U1 2 U2 2 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2164 J9 BMC GENOMICS JI BMC Genomics PD FEB 13 PY 2017 VL 18 AR 153 DI 10.1186/s12864-017-3579-8 PG 27 WC Biotechnology & Applied Microbiology; Genetics & Heredity SC Biotechnology & Applied Microbiology; Genetics & Heredity GA EL1MQ UT WOS:000394384900002 PM 28193177 ER PT J AU Araya, RE Goldszmid, RS AF Araya, Romina E. Goldszmid, Romina S. TI IFNAR1 Degradation: A New Mechanism for Tumor Immune Evasion? SO CANCER CELL LA English DT Editorial Material ID I INTERFERON; DENDRITIC CELLS AB Type I interferons have been shown to play a major role in anti-cancer immunity. In this issue of Cancer Cell, Katlinski et al. describe tumor-induced degradation of type I interferon receptor IFNAR1 chain as a new immune-evasion mechanism in colorectal cancers. Stabilizing IFNAR1 inhibits tumor growth and improves immunotherapy efficacy. C1 [Araya, Romina E.; Goldszmid, Romina S.] NCI, Inflammatory Cell Dynam Sect, Canc & Inflammat Program, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. RP Goldszmid, RS (reprint author), NCI, Inflammatory Cell Dynam Sect, Canc & Inflammat Program, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. EM rgoldszmid@mail.nih.gov FU intramural research program of the NCI FX This work was supported by the intramural research program of the NCI. We are grateful to Juan Pablo Borrelli for help with the illustration. NR 10 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1535-6108 EI 1878-3686 J9 CANCER CELL JI Cancer Cell PD FEB 13 PY 2017 VL 31 IS 2 BP 161 EP 163 DI 10.1016/j.ccell.2017.01.012 PG 3 WC Oncology; Cell Biology SC Oncology; Cell Biology GA EL1WG UT WOS:000394411500002 PM 28196588 ER PT J AU Fishbein, L Leshchiner, I Walter, V Danilova, L Robertson, AG Johnson, AR Lichtenberg, TM Murray, BA Ghayee, HK Else, T Ling, SY Jefferys, SR de Cubas, AA Wenz, B Korpershoek, E Amelio, AL Makowski, L Rathmell, WK Gimenez-Roqueplo, AP Giordano, TJ Asa, SL Tischler, AS Pacak, K Nathanson, KL Wilkerson, MD AF Fishbein, Lauren Leshchiner, Ignaty Walter, Vonn Danilova, Ludmila Robertson, A. Gordon Johnson, Amy R. Lichtenberg, Tara M. Murray, Bradley A. Ghayee, Hans K. Else, Tobias Ling, Shiyun Jefferys, Stuart R. de Cubas, Aguirre A. Wenz, Brandon Korpershoek, Esther Amelio, Antonio L. Makowski, Liza Rathmell, W. Kimryn Gimenez-Roqueplo, Anne-Paule Giordano, Thomas J. Asa, Sylvia L. Tischler, Arthur S. Pacak, Karel Nathanson, Katherine L. Wilkerson, Matthew D. CA Canc Genome Atlas Res Network TI Comprehensive Molecular Characterization of Pheochromocytoma and Paraganglioma SO CANCER CELL LA English DT Article ID RNA-BINDING PROTEIN; SPORADIC PHEOCHROMOCYTOMA; SOMATIC MUTATIONS; GENE-EXPRESSION; STEM-CELLS; CANCER; TUMORS; CARCINOMA; RET; DIFFERENTIATION AB We report a comprehensive molecular characterization of pheochromocytomas and paragangliomas (PCCs/PGLs), a rare tumor type. Multi-platform integration revealed that PCCs/PGLs are driven by diverse alterations affecting multiple genes and pathways. Pathogenic germline mutations occurred in eight PCC/PGL susceptibility genes. We identified CSDE1 as a somatically mutated driver gene, complementing four known drivers (HRAS, RET, EPAS1, and NF1). We also discovered fusion genes in PCCs/PGLs, involving MAML3, BRAF, NGFR, and NF1. Integrated analysis classified PCCs/PGLs into four molecularly defined groups: a kinase signaling subtype, a pseudohypoxia subtype, a Wnt-altered subtype, driven by MAML3 and CSDE1, and a cortical admixture subtype. Correlates of metastatic PCCs/PGLs included the MAML3 fusion gene. This integrated molecular characterization provides a comprehensive foundation for developing PCC/PGL precision medicine. C1 [Fishbein, Lauren] Univ Penn, Perelman Sch Med, Div Endocrinol Diabet & Metab, Dept Med, Philadelphia, PA 19104 USA. [Leshchiner, Ignaty] Eli & Edythe L Broad Inst Massachusetts Inst Tech, Cambridge, MA 02142 USA. [Leshchiner, Ignaty] Harvard Univ, Cambridge, MA 02142 USA. [Walter, Vonn; Jefferys, Stuart R.; de Cubas, Aguirre A.; Amelio, Antonio L.; Makowski, Liza; Rathmell, W. Kimryn; Wilkerson, Matthew D.] Univ North Carolina Chapel Hill, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA. [Danilova, Ludmila] Johns Hopkins Univ, Sidney Kimmel Comprehens Canc Ctr, Baltimore, MD 21287 USA. [Robertson, A. Gordon] BC Canc Agcy, Canadas Michael Smith Genome Sci Ctr, Vancouver, BC V5Z 4S6, Canada. [Johnson, Amy R.] Univ North Carolina Chapel Hill, Dept Nutr, Chapel Hill, NC 27599 USA. [Lichtenberg, Tara M.] Nationwide Childrens Hosp, Res Inst, Columbus, OH 43205 USA. [Ghayee, Hans K.] Univ Florida, Coll Med, Dept Med, Div Endocrinol & Metab, Gainesville, FL 32608 USA. [Ghayee, Hans K.] Malcom Randall VA Med Ctr, Gainesville, FL 32608 USA. [Else, Tobias] Univ Michigan Hlth Syst, Div Metab Endocrinol & Diabet, Dept Internal Med, Ann Arbor, MI 48109 USA. [Ling, Shiyun] Univ Texas MD Anderson Canc Ctr, Houston, TX 77030 USA. [de Cubas, Aguirre A.; Rathmell, W. Kimryn] Univ North Carolina Chapel Hill, Dept Med, Div Hematol & Oncol, Chapel Hill, NC 27599 USA. [Wenz, Brandon; Nathanson, Katherine L.] Univ Penn, Perelman Sch Med, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA. [Korpershoek, Esther] Erasmus MC Univ Med Ctr Rotterdam, Dept Pathol, Wytemaweg 80, NL-3015 CN Rotterdam, Netherlands. [Gimenez-Roqueplo, Anne-Paule] INSERM, Paris Cardiovasc Res Ctr, UMR970, F-75015 Paris, France. [Giordano, Thomas J.] Univ Michigan Hlth Syst, Dept Pathol, Ann Arbor, MI 48109 USA. [Asa, Sylvia L.] Univ Hlth Network, Dept Pathol, Toronto, ON M5G 2C4, Canada. [Asa, Sylvia L.] Univ Toronto, Dept Lab Med & Pathobiol, Toronto, ON M5G 2C4, Canada. [Tischler, Arthur S.] Tufts Med Ctr, Dept Pathol & Lab Med, Boston, MA 02111 USA. [Pacak, Karel] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Med Neuroendocrinol, Bethesda, MD 20892 USA. [Nathanson, Katherine L.] Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA. [Wilkerson, Matthew D.] Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC 27599 USA. [Fishbein, Lauren] Univ Colorado, Sch Med, Dept Med, Div Endocrinol Metab & Diabet, Aurora, CO 80045 USA. [Fishbein, Lauren; de Cubas, Aguirre A.; Rathmell, W. Kimryn] Vanderbilt Univ, Div Hematol & Oncol, Dept Med, Sch Med,Vanderbilt Ingram Canc Ctr, Nashville, TN 37232 USA. [Wilkerson, Matthew D.] Uniformed Serv Univ Hlth Sci, Dept Anat Physiol & Genet, Collaborat Hlth Initiat Res Program, Amer Genome Ctr, Bethesda, MD 20814 USA. RP Wilkerson, MD (reprint author), Univ North Carolina Chapel Hill, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA.; Nathanson, KL (reprint author), Univ Penn, Perelman Sch Med, Dept Med, Div Translat Med & Human Genet, Philadelphia, PA 19104 USA.; Pacak, K (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Med Neuroendocrinol, Bethesda, MD 20892 USA.; Nathanson, KL (reprint author), Univ Penn, Perelman Sch Med, Abramson Canc Ctr, Philadelphia, PA 19104 USA.; Wilkerson, MD (reprint author), Univ North Carolina Chapel Hill, Dept Genet, Chapel Hill, NC 27599 USA.; Wilkerson, MD (reprint author), Uniformed Serv Univ Hlth Sci, Dept Anat Physiol & Genet, Collaborat Hlth Initiat Res Program, Amer Genome Ctr, Bethesda, MD 20814 USA. EM karel@mail.nih.gov; knathans@exchange.upenn.edu; mdwilkerson@outlook.com RI Marra, Marco/B-5987-2008; Holt, Robert/C-3303-2009; OI Zelinka, Tomas/0000-0003-3395-8373; Gehlenborg, Nils/0000-0003-0327-8297 FU NIH [U54 HG003273, U54 HG003067, U54 HG003079, U24 CA143799, U24 CA143835, U24 CA143840, U24 CA143843, U24 CA143845, U24 CA143848, U24 CA14385, U24 CA143866, U24 CA143867, U24 CA143882, U24 CA143883, U24 CA144025, P30 CA016672]; Bayer AG FX We thank all of the patients and families who contributed to the study, Ina Felau for project management, and Jill Dolinsky, MS, CGC, at Ambry Genetics, Inc., for sharing mutation classification and frequency data. This study was supported by NIH grants U54 HG003273, U54 HG003067, U54 HG003079, U24 CA143799, U24 CA143835, U24 CA143840, U24 CA143843, U24 CA143845, U24 CA143848, U24 CA143858, U24 CA143866, U24 CA143867, U24 CA143882, U24 CA143883, U24 CA144025, and P30 CA016672. S.L.A. is part of the pathology imaging medical advisory board of Leica Biosystems. Andrew D. Cherniack and Matthew Meyerson received research support from Bayer AG. NR 54 TC 1 Z9 1 U1 1 U2 1 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1535-6108 EI 1878-3686 J9 CANCER CELL JI Cancer Cell PD FEB 13 PY 2017 VL 31 IS 2 BP 181 EP 193 DI 10.1016/j.ccell.2017.01.001 PG 13 WC Oncology; Cell Biology SC Oncology; Cell Biology GA EL1WG UT WOS:000394411500008 PM 28162975 ER PT J AU Rossey, I Gilman, MSA Kabeche, SC Sedeyn, K Wrapp, D Kanekiyo, M Chen, M Mas, V Spitaels, J Melero, JA Graham, BS Schepens, B McLellan, JS Saelens, X AF Rossey, Iebe Gilman, Morgan S. A. Kabeche, Stephanie C. Sedeyn, Koen Wrapp, Daniel Kanekiyo, Masaru Chen, Man Mas, Vicente Spitaels, Jan Melero, Jose A. Graham, Barney S. Schepens, Bert McLellan, Jason S. Saelens, Xavier TI Potent single-domain antibodies that arrest respiratory syncytial virus fusion protein in its prefusion state SO NATURE COMMUNICATIONS LA English DT Article ID HUMANIZED MONOCLONAL-ANTIBODY; PICHIA-PASTORIS; IN-VITRO; INFECTION; GLYCOPROTEIN; MOTAVIZUMAB; SOFTWARE; RISK AB Human respiratory syncytial virus (RSV) is the main cause of lower respiratory tract infections in young children. The RSV fusion protein (F) is highly conserved and is the only viral membrane protein that is essential for infection. The prefusion conformation of RSV F is considered the most relevant target for antiviral strategies because it is the fusion-competent form of the protein and the primary target of neutralizing activity present in human serum. Here, we describe two llama-derived single-domain antibodies (VHHs) that have potent RSV-neutralizing activity and bind selectively to prefusion RSV F with picomolar affinity. Crystal structures of these VHHs in complex with prefusion F show that they recognize a conserved cavity formed by two F protomers. In addition, the VHHs prevent RSV replication and lung infiltration of inflammatory monocytes and T cells in RSV-challenged mice. These prefusion F-specific VHHs represent promising antiviral agents against RSV. C1 [Rossey, Iebe; Sedeyn, Koen; Spitaels, Jan; Schepens, Bert; Saelens, Xavier] VIB, Ctr Med Biotechnol, Technol Pk 927, B-9052 Ghent, Belgium. [Rossey, Iebe; Sedeyn, Koen; Spitaels, Jan; Schepens, Bert; Saelens, Xavier] Univ Ghent, Dept Biomed Mol Biol, B-9052 Ghent, Belgium. [Gilman, Morgan S. A.; Kabeche, Stephanie C.; Wrapp, Daniel; McLellan, Jason S.] Geisel Sch Med Dartmouth, Dept Biochem & Cell Biol, Hanover, NH 03755 USA. [Kanekiyo, Masaru; Chen, Man; Graham, Barney S.] NIAID, Vaccine Res Ctr, NIH, Bethesda, MD 20892 USA. [Mas, Vicente; Melero, Jose A.] Inst Salud Carlos III, Ctr Nacl Microbiol, Madrid 28220, Spain. [Mas, Vicente; Melero, Jose A.] Inst Salud Carlos III, CIBER Enfermedades Resp, Madrid 28220, Spain. RP Schepens, B; Saelens, X (reprint author), VIB, Ctr Med Biotechnol, Technol Pk 927, B-9052 Ghent, Belgium.; Schepens, B; Saelens, X (reprint author), Univ Ghent, Dept Biomed Mol Biol, B-9052 Ghent, Belgium.; McLellan, JS (reprint author), Geisel Sch Med Dartmouth, Dept Biochem & Cell Biol, Hanover, NH 03755 USA. EM Bert.Schepens@vib-ugent.be; Jason.S.McLellan@dartmouth.edu; xavier.saelens@vib-ugent.be RI Mas, Vicente/M-4776-2015 OI Mas, Vicente/0000-0002-0887-0743 FU IWT-Vlaanderen; National Institute of General Medical Sciences of the National Institutes of Health [T32GM008704, P20GM113132]; FWO-Vlaanderen; Ghent University [BOF12/GOA/014]; Interuniversity Attraction Poles programme (IAP7, BELVIR); VIB; Mineco (Spain) [SAF2015-67033-R]; U.S. Department of Energy, Office of Biological and Environmental Research [DE-AC02-06CH11357]; National Cancer Institute [ACB-12002]; National Institute of General Medical Sciences [AGM-12006] FX We thank Amanda Goncalves and Eef Parthoens from VIB Bio Imaging Core, Liesbeth Vande Ginste, Lien Van Hoecke, Soraya Van Cauwenberghe and Emilie Shipman for excellent technical assistance and Dr Florencia Linero for providing the control VHH. This study was supported by IWT-Vlaanderen (Ph.D. student fellowship to I.R.), National Institute of General Medical Sciences of the National Institutes of Health award T32GM008704 (M.S.A.G.) and P20GM113132 (J.S.M.), FWO-Vlaanderen (Postdoctoral fellowship to B.S.), Ghent University Special Research Grant BOF12/GOA/014, Interuniversity Attraction Poles programme (IAP7, BELVIR), VIB and Mineco (Spain) Grant SAF2015-67033-R (J.A.M.). Results shown in this report are derived in part from work performed at Argonne National Laboratory, Structural Biology Center at the Advanced Photon Source. Argonne is operated by UChicago Argonne, LLC, for the U.S. Department of Energy, Office of Biological and Environmental Research under contract DE-AC02-06CH11357. Data in this report were also obtained at GM/CA@APS, which has been funded in whole or in part with Federal funds from the National Cancer Institute (ACB-12002) and the National Institute of General Medical Sciences (AGM-12006). NR 47 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 13 PY 2017 VL 8 AR 14158 DI 10.1038/ncomms14158 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK8DE UT WOS:000394153300001 PM 28194013 ER PT J AU Bulea, TC Stanley, CJ Damiano, DL AF Bulea, Thomas C. Stanley, Christopher J. Damiano, Diane L. TI Part 2: Adaptation of Gait Kinematics in Unilateral Cerebral Palsy Demonstrates Preserved Independent Neural Control of Each Limb SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE neural circuits; after-effects; brain injury; knee angle; local dynamic stability; neurorehabilitation ID SPLIT-BELT; LOCOMOTOR ADAPTATION; HUMAN WALKING; DYNAMIC STABILITY; PRISM ADAPTATION; INTERLIMB COORDINATION; TREADMILL WALKING; STROKE; VARIABILITY; REHABILITATION AB Motor adaptation, or alteration of neural control in response to a perturbation, is a potential mechanism to facilitate motor learning for rehabilitation. Central nervous system deficits are known to affect locomotor adaptation; yet we demonstrated that similar to adults following stroke, children with unilateral brain injuries can adapt step length in response to unilateral leg weighting. Here, we extend our analysis to explore kinematic strategies underlying step length adaptation and utilize dynamical systems approaches to elucidate how neural control may differ in those with hemiplegic CP across legs and compared to typically developing controls. Ten participants with hemiplegic CP and ten age-matched controls participated in this study. Knee and hip joint kinematics were analyzed during unilateral weighting of each leg in treadmill walking to assess adaptation and presence and persistence of after-effects. Peak joint angle displacement was used to represent changes in joint angles during walking. We examined baseline and task-specific variability and local dynamic stability to evaluate neuromuscular control across groups and legs. In contrast to controls, children with unilateral CP had asymmetries in joint angle variability and local dynamic stability at baseline, showing increased variability and reduced stability in the dominant limb. Kinematic variability increased and local stability decreased during weighting of ipsilateral and contralateral limbs in both groups compared to baseline. After weight removal both measures returned to baseline. Analogous to the temporal-spatial results, children with unilateral CP demonstrated similar capability as controls to adapt kinematics to unilateral leg weighting, however, the group with CP differed across sides after weight removal with dominant limb after-effects fading more quickly than in controls. The change in kinematics did not completely return to baseline in the non-dominant limb of the CP group, producing a transient improvement in joint angle symmetry. Recent studies demonstrate that neural control of gait is multi-layered with distinct circuits for different types of walking and for each leg. Remarkably, our results demonstrate that children with unilateral brain injury retain these separate circuits for each leg during walking and, importantly, that those networks can be adapted independently from one another to improve symmetry in the short term. C1 [Bulea, Thomas C.; Stanley, Christopher J.; Damiano, Diane L.] NIH, Funct & Appl Biomech Sect, Dept Rehabil Med, Bldg 10, Bethesda, MD 20892 USA. RP Bulea, TC (reprint author), NIH, Funct & Appl Biomech Sect, Dept Rehabil Med, Bldg 10, Bethesda, MD 20892 USA. EM thomas.bulea@nih.gov FU NIH Clinical Center FX This work was funded by the Intramural Research Program of the NIH Clinical Center. NR 48 TC 0 Z9 0 U1 1 U2 1 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1662-5161 J9 FRONT HUM NEUROSCI JI Front. Hum. Neurosci. PD FEB 13 PY 2017 VL 11 AR 50 DI 10.3389/fnhum.2017.00050 PG 12 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA EK1WK UT WOS:000393716300001 PM 28243195 ER PT J AU Chinen, M Lei, EP AF Chinen, Madoka Lei, Elissa P. TI Drosophila Argonaute2 turnover is regulated by the ubiquitin proteasome pathway SO BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS LA English DT Article DE Argonaute; RNAi; Protein stability; Ubiquitin; Proteasome ID DISTINCT ROLES; HUMAN-CELLS; STABILITY; PROTEINS; GENE; COMPLEXES; RNAI AB Argonaute (AGO) proteins play a central role in the RNA interference (RNAi) pathway, which is a cytoplasmic mechanism important for post-transcriptional regulation of gene expression. In Drosophila, AGO2 also functions in the nucleus to regulate chromatin insulator activity and transcription. Although there are a number of studies focused on AGO2 function, the regulation of AGO2 turnover is not well understood. We found that mutation of T1149 or R1158 in the conserved PIWI domain causes AGO2 protein instability, but only T1149 affects RNAi activity. Mass spec analysis shows that several proteasome components co-purify with both wildtype and mutant AGO2, and knockdown of two proteasome pathway components results in AGO2 protein accumulation. Finally, AGO2 protein levels increase after treatment with the proteasome inhibitor MG132. Our results indicate that the ubiquitin-proteasome pathway is involved in AGO2 protein turnover. Published by Elsevier Inc. C1 [Chinen, Madoka; Lei, Elissa P.] NIDDK, Nucl Org & Gene Express Sect, Lab Cellular & Dev Biol, NIH, Bethesda, MD 20892 USA. RP Lei, EP (reprint author), NIDDK, Nucl Org & Gene Express Sect, Lab Cellular & Dev Biol, NIH, Bethesda, MD 20892 USA. EM leielissa@niddk.nih.gov FU Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health [DK015602] FX We thank M. Siomi, H. Siomi, and Q. Liu for anti-AG02; E.C. Lai and SW. Shin for discussions; and A. Haase and members of the Lei laboratory for comments on the manuscript. This work was funded by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases DK015602, National Institutes of Health. NR 22 TC 0 Z9 0 U1 1 U2 1 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 0006-291X EI 1090-2104 J9 BIOCHEM BIOPH RES CO JI Biochem. Biophys. Res. Commun. PD FEB 12 PY 2017 VL 483 IS 3 BP 951 EP 957 DI 10.1016/j.bbrc.2017.01.039 PG 7 WC Biochemistry & Molecular Biology; Biophysics SC Biochemistry & Molecular Biology; Biophysics GA EK1ZI UT WOS:000393726400008 PM 28087276 ER PT J AU Hanley, DF Lane, K McBee, N Ziai, W Tuhrim, S Lees, KR Dawson, J Gandhi, D Ullman, N Mould, WA Mayo, SW Mendelow, AD Gregson, B Butcher, K Vespa, P Wright, DW Kase, CS Carhuapoma, JR Keyl, PM Diener-West, M Muschelli, J Betz, JF Thompson, CB Sugar, EA Yenokyan, G Janis, S John, S Harnof, S Lopez, GA Aldrich, EF Harrigan, MR Ansari, S Jallo, J Caron, JL LeDoux, D Adeoye, O Zuccarello, M Adams, HP Rosenblum, M Thompson, RE Awad, IA AF Hanley, Daniel F. Lane, Karen McBee, Nichol Ziai, Wendy Tuhrim, Stanley Lees, Kennedy R. Dawson, Jesse Gandhi, Dheeraj Ullman, Natalie Mould, W. Andrew Mayo, Steven W. Mendelow, A. David Gregson, Barbara Butcher, Kenneth Vespa, Paul Wright, David W. Kase, Carlos S. Carhuapoma, J. Ricardo Keyl, Penelope M. Diener-West, Marie Muschelli, John Betz, Joshua F. Thompson, Carol B. Sugar, Elizabeth A. Yenokyan, Gayane Janis, Scott John, Sayona Harnof, Sagi Lopez, George A. Aldrich, E. Francois Harrigan, Mark R. Ansari, Safdar Jallo, Jack Caron, Jean-Louis LeDoux, David Adeoye, Opeolu Zuccarello, Mario Adams, Harold P. Rosenblum, Michael Thompson, Richard E. Awad, Issam A. CA ClEAR III Investigators TI Thrombolytic removal of intraventricular haemorrhage in treatment of severe stroke: results of the randomised, multicentre, multiregion, placebo-controlled CLEAR III trial SO LANCET LA English DT Article ID SPONTANEOUS INTRACEREBRAL HEMORRHAGE; PLASMINOGEN-ACTIVATOR; CLINICAL-TRIAL; RESOLUTION; UPDATE; BLOOD AB Background Intraventricular haemorrhage is a subtype of intracerebral haemorrhage, with 50% mortality and serious disability for survivors. We aimed to test whether attempting to remove intraventricular haemorrhage with alteplase versus saline irrigation improved functional outcome. Methods In this randomised, double-blinded, placebo-controlled, multiregional trial (CLEAR III), participants with a routinely placed extraventricular drain, in the intensive care unit with stable, non-traumatic intracerebral haemorrhage volume less than 30 mL, intraventricular haemorrhage obstructing the 3rd or 4th ventricles, and no underlying pathology were adaptively randomly assigned (1: 1), via a web-based system to receive up to 12 doses, 8 h apart of 1 mg of alteplase or 0.9% saline via the extraventricular drain. The treating physician, clinical research staff, and participants were masked to treatment assignment. CT scans were obtained every 24 h throughout dosing. The primary efficacy outcome was good functional outcome, defined as a modified Rankin Scale score (mRS) of 3 or less at 180 days per central adjudication by blinded evaluators. This study is registered with ClinicalTrials.gov,NCT00784134. Findings Between Sept 18, 2009, and Jan 13, 2015, 500 patients were randomised: 249 to the alteplase group and 251 to the saline group. 180-day follow-up data were available for analysis from 246 of 249 participants in the alteplase group and 245 of 251 participants in the placebo group. The primary efficacy outcome was similar in each group (good outcome in alteplase group 48% vs saline 45%; risk ratio [RR] 1.06 [95% CI 0.88-1.28; p=0.554]). A difference of 3.5% (RR 1.08 [95% CI 0.90-1.29], p= 0.420) was found after adjustment for intraventricular haemorrhage size and thalamic intracerebral haemorrhage. At 180 days, the treatment group had lower case fatality (46 [18%] vs saline 73 [29%], hazard ratio 0.60 [95% CI 0.41-0.86], p= 0.006), but a greater proportion with mRS 5 (42 [17%] vs 21 [9%]; RR 1.99 [95% CI 1.22-3.26], p= 0.007). Ventriculitis (17 [7%] alteplase vs 31 [12%] saline; RR 0.55 [95% CI 0.31-0.97], p= 0.048) and serious adverse events (114 [46%] alteplase vs 151 [60%] saline; RR 0.76 [95% CI 0.64-0.90], p= 0.002) were less frequent with alteplase treatment. Symptomatic bleeding (six [2%] in the alteplase group vs five [2%] in the saline group; RR 1.21 [95% CI 0.37-3.91], p=0.771) was similar. Interpretation In patients with intraventricular haemorrhage and a routine extraventricular drain, irrigation with alteplase did not substantially improve functional outcomes at the mRS 3 cutoff compared with irrigation with saline. Protocolbased use of alteplase with extraventricular drain seems safe. Future investigation is needed to determine whether a greater frequency of complete intraventricular haemorrhage removal via alteplase produces gains in functional status. C1 [Hanley, Daniel F.; Lane, Karen; McBee, Nichol; Ziai, Wendy; Ullman, Natalie; Mould, W. Andrew; Carhuapoma, J. Ricardo; Keyl, Penelope M.] Johns Hopkins Univ, Sch Med, Brain Injury Outcomes Div, Baltimore, MD USA. [Tuhrim, Stanley] Icahn Sch Med Mt Sinai, New York, NY 10029 USA. [Lees, Kennedy R.; Dawson, Jesse] Univ Glasgow, Glasgow, Lanark, Scotland. [Gandhi, Dheeraj; Aldrich, E. Francois] Univ Maryland, Baltimore, MD 21201 USA. [Mayo, Steven W.] Emissary Int LLC, Austin, TX USA. [Mendelow, A. David; Gregson, Barbara] Newcastle Univ, Newcastle Upon Tyne, Tyne & Wear, England. [Butcher, Kenneth] Univ Alberta, Edmonton, AB, Canada. [Vespa, Paul] Univ Calif Los Angeles, Los Angeles, CA USA. [Wright, David W.] Emory Univ, Atlanta, GA 30322 USA. [Kase, Carlos S.] Boston Univ, Boston, MA 02215 USA. [Diener-West, Marie; Muschelli, John; Betz, Joshua F.; Thompson, Carol B.; Sugar, Elizabeth A.; Yenokyan, Gayane; Rosenblum, Michael; Thompson, Richard E.] Johns Hopkins Univ Bloomberg, Sch Publ Hlth, Dept Biostat, Baltimore, MD USA. [Janis, Scott] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [John, Sayona] Rush Univ, Chicago, IL 60612 USA. [Harnof, Sagi] Chaim Sheba Med Ctr, Ramat Gan, Israel. [Lopez, George A.] Univ Texas Houston, Houston, TX USA. [Harrigan, Mark R.] Univ Alabama Birmingham, Birmingham, AL USA. [Ansari, Safdar] Univ Utah, Salt Lake City, UT USA. [Jallo, Jack] Thomas Jefferson Univ Hosp, Philadelphia, PA 19107 USA. [Caron, Jean-Louis] Univ Texas San Antonio, San Antonio, TX USA. [LeDoux, David] North Shore Long Isl Jewish Med Ctr, Manhasset, NY USA. [Adeoye, Opeolu; Zuccarello, Mario] Univ Cincinnati, Cincinnati, OH USA. [Adams, Harold P.] Univ Iowa, Iowa City, IA USA. [Awad, Issam A.] Univ Chicago, Chicago, IL 60637 USA. RP Hanley, DF (reprint author), Johns Hopkins Univ, Acute Care Neurol, Div Brain Injury Outcomes, Baltimore, MD 21231 USA. EM dhanley@jhmi.edu FU National Institute of Neurological Disorders and Stroke FX National Institute of Neurological Disorders and Stroke. NR 25 TC 0 Z9 0 U1 3 U2 3 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0140-6736 EI 1474-547X J9 LANCET JI Lancet PD FEB 11 PY 2017 VL 389 IS 10069 BP 603 EP 611 DI 10.1016/S0140-6736(16)32410-2 PG 9 WC Medicine, General & Internal SC General & Internal Medicine GA EL9AF UT WOS:000394910800029 PM 28081952 ER PT J AU Lin, W Zhang, PP Chen, H Chen, Y Yang, HX Zheng, WJ Zhang, X Zhang, FX Zhang, W Lipsky, PE AF Lin, Wei Zhang, Panpan Chen, Hua Chen, Yu Yang, Hongxian Zheng, Wenjie Zhang, Xuan Zhang, Fengxiao Zhang, Wen Lipsky, Peter E. TI Circulating plasmablasts/plasma cells: a potential biomarker for IgG4-related disease SO ARTHRITIS RESEARCH & THERAPY LA English DT Article DE IgG4-RD; Biomarker; Autoimmunity; CD19(+) CD24(-) CD38(hi) plasmablast/plasma cell ID IMMUNOGLOBULIN G4-RELATED DISEASE; PLASMA-CELLS; B-CELLS; RECEPTOR STIMULATION; CD86; DIFFERENTIATION; EXPRESSION; TRANSCRIPTION; SUBSETS AB Background: Immunoglobulin G4 (IgG4)-related disease (IgG4-RD) is a multisystem fibroinflammatory disease. We previously reported that a circulating cell population expressing CD19(+) CD24(-)CD38(hi) was increased in patients with IgG4-RD. In this study, we aimed to document that this cell population represented circulating plasmablasts/plasma cells, to identify the detailed phenotype and gene expression profile of these IgG4-secreting plasmablasts/plasma cells, and to determine whether this B-cell lineage subset could be a biomarker in IgG4-related disease (IgG4-RD). Methods: A total of 42 untreated patients with IgG4-RD were evaluated. Peripheral B-cell subsets, including CD19(+) CD24(-) CD38(hi) plasmablasts/plasma cells, CD19(+) CD24(+) CD38(-) memory B cells, CD19(+) CD24(int)CD38(int) naive B cells, and CD19(+) CD24(hi)CD38(hi) regulatory B cells, were assessed and sorted by flow cytometry. Microarray analysis was used to measure gene expression of circulating B-cell lineage subsets. Further characterization of CD19(+) CD24 (-)CD38(hi) plasmablasts/plasma cells was carried out by evaluating additional surface markers, including CD27, CD95, and human leukocyte antigen (HLA)-DR, by flow cytometric assay. In addition, various B-cell lineage subsets were cultured in vitro and IgG4 concentrations were measured by cytometric bead array. Results: In untreated patients with IgG4-RD, the peripheral CD19(+) CD24(-)CD38(hi) plasmablast/plasma cell subset was increased and positively correlated with serum IgG4 levels, the number of involved organs, and the IgG4-related Disease Responder Index. It decreased after treatment with glucocorticoids. Characterization of the plasmablast/ plasma cell population by gene expression profiling documented a typical plasmablast/plasma cell signature with higher expression of X-box binding protein 1 and IFN regulatory factor 4, but lower expression of paired box gene 5 and B-cell lymphoma 6 protein. In addition, CD27, CD95, and HLA-DR were highly expressed on CD19(+) CD24(-)CD38(hi) plasmablasts/plasma cells from patients with IgG4-RD. Furthermore, CD19(+) CD24(-)CD38(hi) plasmablasts/ plasma cells secreted more IgG4 than other B-cell populations. Conclusions: Circulating CD19(+) CD24(-)CD38(hi) plasmablasts/plasma cells are elevated in active IgG4-RD and decreased after glucocorticoid treatment. This IgG4-secreting plasmablast/plasma cell population might be a potentially useful biomarker for diagnosis and assessing response to treatment. C1 [Lin, Wei; Zhang, Panpan; Chen, Hua; Chen, Yu; Yang, Hongxian; Zheng, Wenjie; Zhang, Xuan; Zhang, Wen] Chinese Acad Med Sci, Key Lab Rheumatol & Clin Immunol, Peking Union Med Coll Hosp, Dept Rheumatol,Minist Educ, Beijing 100730, Peoples R China. [Lin, Wei; Zhang, Fengxiao] Hebei Gen Hosp, Dept Rheumatol, Shijiazhuang, Peoples R China. [Lipsky, Peter E.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Zhang, W (reprint author), Chinese Acad Med Sci, Key Lab Rheumatol & Clin Immunol, Peking Union Med Coll Hosp, Dept Rheumatol,Minist Educ, Beijing 100730, Peoples R China.; Lipsky, PE (reprint author), NIH, Bldg 10, Bethesda, MD 20892 USA. EM zhangwen91@sina.com; peterlipsky@comcast.net OI zhang, xuan/0000-0001-8775-1699 FU National Natural Science Foundation of China [81373190, 81571587] FX This work was supported by grants from the National Natural Science Foundation of China (grant numbers 81373190, 81571587). NR 39 TC 0 Z9 0 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1478-6354 EI 1478-6362 J9 ARTHRITIS RES THER JI Arthritis Res. Ther. PD FEB 10 PY 2017 VL 19 AR 25 DI 10.1186/s13075-017-1231-2 PG 14 WC Rheumatology SC Rheumatology GA EN8UC UT WOS:000396274300002 PM 28183334 ER PT J AU Erikson, JM Valente, AJ Mummidi, S Kandikattu, HK DeMarco, VG Bender, SB Fay, WP Siebenlist, U Chandrasekar, B AF Erikson, John M. Valente, Anthony J. Mummidi, Srinivas Kandikattu, Hemanth Kumar DeMarco, Vincent G. Bender, Shawn B. Fay, William P. Siebenlist, Ulrich Chandrasekar, Bysani TI Targeting TRAF3IP2 by Genetic and Interventional Approaches Inhibits Ischemia/Reperfusion- induced Myocardial Injury and Adverse Remodeling SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article ID ISCHEMIA-REPERFUSION INJURY; NF-KAPPA-B; IMPROVES CARDIAC-FUNCTION; ACTIVATED PROTEIN-KINASE; MICROBUBBLE DESTRUCTION; NITRIC-OXIDE; IN-VIVO; ENDOTHELIAL DYSFUNCTION; CARDIOMYOCYTE APOPTOSIS; ALBUMIN MICROBUBBLES AB Re-establishing blood supply is the primary goal for reducing myocardial injury in subjects with ischemic heart disease. Paradoxically, reperfusion results in nitroxidative stress and a marked inflammatory response in the heart. TRAF3IP2 (TRAF3 Interacting Protein 2; previously known as CIKS or Act1) is an oxidative stress-responsive cytoplasmic adapter molecule that is an upstream regulator of both I kappa B kinase (IKK) and c-Jun N-terminal kinase (JNK), and an important mediator of autoimmune and inflammatory responses. Here we investigated the role of TRAF3IP2 in ischemia/reperfusion (I/R)-induced nitroxidative stress, inflammation, myocardial dysfunction, injury, and adverse remodeling. Our data show that I/R up-regulates TRAF3IP2 expression in the heart, and its gene deletion, in a conditional cardiomyocyte-specific manner, significantly attenuates I/R-induced nitroxidative stress, IKK/NF-kappa B and JNK/AP-1 activation, inflammatory cytokine, chemokine, and adhesion molecule expression, immune cell infiltration, myocardial injury, and contractile dysfunction. Furthermore, Traf3ip2 gene deletion blunts adverse remodeling 12 weeks post-I/R, as evidenced by reduced hypertrophy, fibrosis, and contractile dysfunction. Supporting the genetic approach, an interventional approach using ultrasound-targeted microbubble destruction-mediated delivery of phosphorothioated TRAF3IP2 antisense oligonucleotides into the LV in a clinically relevant time frame significantly inhibits TRAF3IP2 expression and myocardial injury in wild type mice post-I/R. Furthermore, ameliorating myocardial damage by targeting TRAF3IP2 appears to be more effective to inhibiting its downstream signaling intermediates NF-kappa B and JNK. Therefore, TRAF3IP2 could be a potential therapeutic target in ischemic heart disease. C1 [Erikson, John M.; Valente, Anthony J.; Mummidi, Srinivas] Univ Texas Hlth Sci Ctr San Antonio, Dept Med, San Antonio, TX 78229 USA. [Kandikattu, Hemanth Kumar; DeMarco, Vincent G.; Fay, William P.; Chandrasekar, Bysani] Univ Missouri, Dept Med, Sch Med, Columbia, MO 65211 USA. [Kandikattu, Hemanth Kumar; DeMarco, Vincent G.; Fay, William P.; Chandrasekar, Bysani] Harry S Truman Mem Vet Hosp, Res Serv, Columbia, MO 65201 USA. [DeMarco, Vincent G.; Bender, Shawn B.; Fay, William P.; Chandrasekar, Bysani] Univ Missouri, Sch Med, Dept Med Pharmacol & Physiol, Columbia, MO 65211 USA. [Bender, Shawn B.; Siebenlist, Ulrich] Univ Missouri, Sch Med, Dept Biomed Sci, Columbia, MO 65211 USA. [Bender, Shawn B.; Chandrasekar, Bysani] Dalton Cardiovasc Res Ctr, Columbia, MO 65201 USA. [Siebenlist, Ulrich] NIAID, Immunoregulat Lab, NIH, Bethesda, MD 20892 USA. RP Chandrasekar, B (reprint author), Univ Missouri, Sch Med, Med Cardiol, 1 Hosp Dr, Columbia, MO 65212 USA. EM chandrasekarb@health.missouri.edu FU United States Department of Veterans Affairs, Office of Research and Development-Biomedical Laboratory Research and Development [I01-BX002255] FX The work was supported in part by United States Department of Veterans Affairs, Office of Research and Development-Biomedical Laboratory Research and Development (ORD-BLRD) Service Award I01-BX002255. The authors declare that they have no conflicts of interest with the contents of this article. The contents of this report do not represent the views of the Department of Veterans Affairs or the United States government. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 61 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD FEB 10 PY 2017 VL 292 IS 6 BP 2345 EP 2358 DI 10.1074/jbc.M116.764522 PG 14 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EM7ZG UT WOS:000395530300025 PM 28053087 ER PT J AU Zhai, XH Gao, YG Mishra, SK Simanshu, DK Boldyrev, IA Benson, LM Bergen, HR Malinina, L Mundy, J Molotkovsky, JG Patel, DJ Brown, RE AF Zhai, Xiuhong Gao, Yong-Guang Mishra, Shrawan K. Simanshu, Dhirendra K. Boldyrev, Ivan A. Benson, Linda M. Bergen, H. Robert, III Malinina, Lucy Mundy, John Molotkovsky, Julian G. Patel, Dinshaw J. Brown, Rhoderick E. TI Phosphatidylserine Stimulates Ceramide 1-Phosphate (C1P) Intermembrane Transfer by C1P Transfer Proteins SO JOURNAL OF BIOLOGICAL CHEMISTRY LA English DT Article ID GLYCOLIPID TRANSFER PROTEIN; OXYSTEROL-BINDING PROTEINS; PROGRAMMED CELL-DEATH; AMPHITROPIC PROTEINS; MEMBRANE INTERACTION; GLYCOSPHINGOLIPID SYNTHESIS; TRANSBILAYER DISTRIBUTION; TRYPTOPHAN FLUORESCENCE; PHOSPHOLIPID-BINDING; MEDIATED TRANSFER AB Genetic models for studying localized cell suicide that halt the spread of pathogen infection and immune response activation in plants include Arabidopsis accelerated-cell-death 11 mutant (acd11). In this mutant, sphingolipid homeostasis is disrupted via depletion of ACD11, a lipid transfer protein that is specific for ceramide 1-phosphate (C1P) and phyto-C1P. The C1P binding site in ACD11 and in human ceramide-1-phosphate transfer protein (CPTP) is surrounded by cationic residues. Here, we investigated the functional regulation of ACD11 and CPTP by anionic phosphoglycerides and found that 1-palmitoyl-2-oleoyl-phosphatidic acid or 1-palmitoyl-2-oleoyl-phosphatidylglycerol (<= 15 mol %) in C1P source vesicles depressed C1P intermembrane transfer. Bycontrast, replacement with 1-palmitoyl-2-oleoyl-phosphatidylserine stimulated C1P transfer by ACD11 and CPTP. Notably, "soluble" phosphatidylserine (dihexanoyl-phosphatidylserine) failed to stimulate C1P transfer. Also, none of the anionic phosphoglycerides affected transfer action by human glycolipid lipid transfer protein (GLTP), which is glycolipid-specific and has few cationic residues near its glycolipid binding site. These findings provide the first evidence for a potential phosphoglyceride headgroup-specific regulatory interaction site(s) existing on the surface of any GLTP-fold and delineate new differences between GLTP superfamily members that are specific for C1P versus glycolipid. C1 [Zhai, Xiuhong; Gao, Yong-Guang; Mishra, Shrawan K.; Malinina, Lucy; Brown, Rhoderick E.] Univ Minnesota, Hormel Inst, 801 16th Ave NE, Austin, MN 55912 USA. [Simanshu, Dhirendra K.; Patel, Dinshaw J.] Mem Sloan Kettering Canc Ctr, Struct Biol Program, New York, NY 10065 USA. [Boldyrev, Ivan A.; Molotkovsky, Julian G.] Russian Acad Sci, Shemyakin Ovchinnikov Inst Bioorgan Chem, Moscow 117997, Russia. [Benson, Linda M.; Bergen, H. Robert, III] Mayo Fdn, Med Genom Facil, Prote Core, Rochester, MN 55905 USA. [Mundy, John] Univ Copenhagen, BioCtr, Dept Biol, DK-2200 Copenhagen N, Denmark. [Simanshu, Dhirendra K.] NCI Frederick, Frederick Natl Lab Canc Res, NIH, 8560 Progress Dr,C1012, Frederick, MD 21702 USA. RP Zhai, XH; Brown, RE (reprint author), Univ Minnesota, Hormel Inst, 801 16th Ave NE, Austin, MN 55912 USA. EM zhai@hi.umn.edu; reb@umn.edu FU NIGMS, National Institutes of Health (NIH) [GM45928]; NHLBI, NIH [HL125353, NCI CA121493]; Russian Foundation for Basic Research [015-04-07415]; Danish Strategic Research Council [09-067148]; Abby Rockefeller Mauze Trust; Maloris and Hormel Foundations FX This work was supported in whole or part by NIGMS, National Institutes of Health (NIH), Grant GM45928 and NHLBI, NIH, Grants HL125353 and NCI CA121493; Russian Foundation for Basic Research Grant 015-04-07415; Danish Strategic Research Council Grant 09-067148; the Abby Rockefeller Mauze Trust; and the Maloris and Hormel Foundations. Portions of this work were presented at the 2015 American Chemical Society and 2015 American Society for Biochemistry and Molecular Biology Annual Meetings. The authors declare that they have no conflicts of interest with the contents of this article. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. NR 73 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC BIOCHEMISTRY MOLECULAR BIOLOGY INC PI BETHESDA PA 9650 ROCKVILLE PIKE, BETHESDA, MD 20814-3996 USA SN 0021-9258 EI 1083-351X J9 J BIOL CHEM JI J. Biol. Chem. PD FEB 10 PY 2017 VL 292 IS 6 BP 2531 EP 2541 DI 10.1074/jbc.M116.760256 PG 11 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EM7ZG UT WOS:000395530300039 PM 28011644 ER PT J AU Carroll, YI Eichwald, J Scinicariello, F Hoffman, HJ Deitchman, S Radke, MS Themann, CL Breysse, P AF Carroll, Yulia I. Eichwald, John Scinicariello, Franco Hoffman, Howard J. Deitchman, Scott Radke, Marilyn S. Themann, Christa L. Breysse, Patrick TI Vital Signs: Noise-Induced Hearing Loss Among Adults - United States 2011-2012 SO MMWR-MORBIDITY AND MORTALITY WEEKLY REPORT LA English DT Article ID HEALTH AB Introduction: The 2016 National Academies of Sciences report "Hearing Health Care for Adults: Priorities for Improving Access and Affordability" included a call to action for government agencies to strengthen efforts to collect, analyze, and disseminate population-based data on hearing loss in adults. Methods: CDC analyzed the most recent available data collected both by questionnaire and audiometric tests of adult participants aged 20-69 years in the 2011-2012 National Health. and Nutrition Examination Survey (NHANES) to determine the presence of audiometric notches indicative of noise-induced hearing loss. Prevalence of both unilateral and,bilateral audiometric notches and their association with sociodemographics and self-reported exposure to loud noise were calculated. Results: Nearly one in four adults (24%) had audiometric notches, suggesting a high prevalence of noise-induced hearing loss. The prevalence of notches was higher among males. Almost one in four U.S. adults who reported excellent or good hearing had audiometric notches (5.5% bilateral and 18.0% unilateral). Among participants who reported exposure to loud noise at work, almost one third had a notch. Conclusions and Implications for Public Health Practice: Noise-induced hearing loss is a significant, often unrecognized health problem among U.S. adults. Discussions between patients and personal health care providers about hearing loss symptoms, tests, and ways to protect hearing might help with early diagnosis of hearing loss and provide opportunities to prevent harmful noise expoSures. Avoiding prolonged exposure to loud environments and using personal hearing protection devices can prevent noise-induced hearing loss. C1 [Carroll, Yulia I.; Eichwald, John] CDC, Off Sci, Natl Ctr Environm Hlth, Atlanta, GA 30333 USA. [Scinicariello, Franco] Agcy Toxic Subst & Dis Registry, Div Toxicol & Human Hlth Serv, Atlanta, GA USA. [Hoffman, Howard J.] NIDCD, NIH, Bethesda, MD USA. [Deitchman, Scott; Breysse, Patrick] CDC, Off Director, Natl Ctr Environm Hlth, Atlanta, GA 30333 USA. [Radke, Marilyn S.] CDC, Div Emergency & Environm Hlth Serv, Natl Ctr Environm Hlth, Atlanta, GA 30333 USA. [Themann, Christa L.] CDC, NIOSH, Atlanta, GA 30333 USA. RP Carroll, YI (reprint author), CDC, Off Sci, Natl Ctr Environm Hlth, Atlanta, GA 30333 USA. EM YCarroll@cdc.gov NR 16 TC 0 Z9 0 U1 1 U2 1 PU CENTERS DISEASE CONTROL PI ATLANTA PA 1600 CLIFTON RD, ATLANTA, GA 30333 USA SN 0149-2195 EI 1545-861X J9 MMWR-MORBID MORTAL W JI MMWR-Morb. Mortal. Wkly. Rep. PD FEB 10 PY 2017 VL 66 IS 5 BP 139 EP 144 PG 6 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EL1US UT WOS:000394407400005 PM 28182600 ER PT J AU Koonin, EV AF Koonin, Eugene V. TI Evolution of RNA- and DNA-guided antivirus defense systems in prokaryotes and eukaryotes: common ancestry vs convergence SO BIOLOGY DIRECT LA English DT Review ID CRISPR-CAS SYSTEMS; ADAPTIVE IMMUNITY; ARGONAUTE PROTEINS; CRYSTAL-STRUCTURE; STRUCTURAL INSIGHTS; BACTERIAL ARGONAUTE; GENOME EVOLUTION; NONCODING RNA; CENTRAL DOGMA; FOREIGN DNA AB Complementarity between nucleic acid molecules is central to biological information transfer processes. Apart from the basal processes of replication, transcription and translation, complementarity is also employed by multiple defense and regulatory systems. All cellular life forms possess defense systems against viruses and mobile genetic elements, and in most of them some of the defense mechanisms involve small guide RNAs or DNAs that recognize parasite genomes and trigger their inactivation. The nucleic acid-guided defense systems include prokaryotic Argonaute (pAgo)-centered innate immunity and CRISPR-Cas adaptive immunity as well as diverse branches of RNA interference (RNAi) in eukaryotes. The archaeal pAgo machinery is the direct ancestor of eukaryotic RNAi that, however, acquired additional components, such as Dicer, and enormously diversified through multiple duplications. In contrast, eukaryotes lack any heritage of the CRISPR-Cas systems, conceivably, due to the cellular toxicity of some Cas proteins that would get activated as a result of operon disruption in eukaryotes. The adaptive immunity function in eukaryotes is taken over partly by the PIWI RNA branch of RNAi and partly by protein-based immunity. In this review, I briefly discuss the interplay between homology and analogy in the evolution of RNA-and DNA-guided immunity, and attempt to formulate some general evolutionary principles for this ancient class of defense systems. C1 [Koonin, Eugene V.] Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. RP Koonin, EV (reprint author), Natl Lib Med, Natl Ctr Biotechnol Informat, Bethesda, MD 20894 USA. EM koonin@ncbi.nlm.nih.gov FU US Department of Health and Human Services FX The author's research is supported by intramural funds of the US Department of Health and Human Services (to the National Library of Medicine). NR 137 TC 0 Z9 0 U1 6 U2 6 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1745-6150 J9 BIOL DIRECT JI Biol. Direct PD FEB 10 PY 2017 VL 12 AR 5 DI 10.1186/s13062-017-0177-2 PG 14 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EM8YB UT WOS:000395595900001 PM 28187792 ER PT J AU Xu, C Yang, XY Fu, X Tian, R Jacobson, O Wang, ZT Lu, N Liu, YJ Fan, WP Zhang, FW Niu, G Hu, S Ali, IU Chen, XY AF Xu, Can Yang, Xiangyu Fu, Xiao Tian, Rui Jacobson, Orit Wang, Zhantong Lu, Nan Liu, Yijing Fan, Wenpei Zhang, Fuwu Niu, Gang Hu, Shuo Ali, Iqbal Unnisa Chen, Xiaoyuan TI Converting Red Blood Cells to Efficient Microreactors for Blood Detoxification SO ADVANCED MATERIALS LA English DT Article ID ATOMIC-FORCE MICROSCOPY; URIC-ACID; MOUSE ERYTHROCYTES; HYPOTONIC HEMOLYSIS; DRUG-DELIVERY; DEGRADATION; PEROXIDASE; CARRIERS; ENZYME; MICROPARTICLES AB A simple method to convert red blood cells (RBCs) into efficient microreactors is reported. Triton X-100 is employed at finely tuned concentrations to render RBCs highly permeable to substrates, while low concentrations of glutaraldehyde are used to stabilize cells. The ability for blood detoxification of these micro-reactors is demonstrated. C1 [Xu, Can; Hu, Shuo] Cent S Univ, Xiangya Hosp, Dept PET Ctr, Changsha 410008, Hunan, Peoples R China. [Xu, Can; Yang, Xiangyu; Fu, Xiao; Tian, Rui; Jacobson, Orit; Wang, Zhantong; Lu, Nan; Liu, Yijing; Fan, Wenpei; Zhang, Fuwu; Niu, Gang; Ali, Iqbal Unnisa; Chen, Xiaoyuan] NIBIB, LOMIN, NIH, Bethesda, MD 20892 USA. RP Hu, S (reprint author), Cent S Univ, Xiangya Hosp, Dept PET Ctr, Changsha 410008, Hunan, Peoples R China.; Ali, IU; Chen, XY (reprint author), NIBIB, LOMIN, NIH, Bethesda, MD 20892 USA. EM iqbal.ali@nih.gov; shawn.chen@nih.gov FU National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health; National Science Foundation of China [NSFC 81471689] FX This research was supported in part by the Intramural Research Program, National Institute of Biomedical Imaging and Bioengineering, National Institutes of Health, and the National Science Foundation of China (NSFC 81471689). All experiments with live animals were conducted in accordance with a protocol approved by the National Institutes of Health Clinical Center Animal Care and Use Committee (NIH CC/ACUC). NR 59 TC 0 Z9 0 U1 7 U2 7 PU WILEY-V C H VERLAG GMBH PI WEINHEIM PA POSTFACH 101161, 69451 WEINHEIM, GERMANY SN 0935-9648 EI 1521-4095 J9 ADV MATER JI Adv. Mater. PD FEB 10 PY 2017 VL 29 IS 6 AR UNSP 1603673 DI 10.1002/adma.201603673 PG 12 WC Chemistry, Multidisciplinary; Chemistry, Physical; Nanoscience & Nanotechnology; Materials Science, Multidisciplinary; Physics, Applied; Physics, Condensed Matter SC Chemistry; Science & Technology - Other Topics; Materials Science; Physics GA EN6WB UT WOS:000396143000009 ER PT J AU Zhou, WC Marinelli, F Nief, C Faraldo-Gomez, JD AF Zhou, Wenchang Marinelli, Fabrizio Nief, Corrine Faraldo-Gomez, Jose D. TI Atomistic simulations indicate the c-subunit ring of the F1Fo ATP synthase is not the mitochondrial permeability transition pore SO ELIFE LA English DT Article ID HIGH-RESOLUTION STRUCTURE; ROTOR RING; ILYOBACTER-TARTARICUS; FORCE-FIELD; MECHANISM; OPTIMIZATION; DYNAMICS; CHANNEL; BINDING AB Pathological metabolic conditions such as ischemia induce the rupture of the mitochondrial envelope and the release of pro-apoptotic proteins, leading to cell death. At the onset of this process, the inner mitochondrial membrane becomes depolarized and permeable to osmolytes, proposedly due to the opening of a non-selective protein channel of unknown molecular identity. A recent study purports that this channel, referred to as Mitochondrial Permeability Transition Pore (MPTP), is formed within the c-subunit ring of the ATP synthase, upon its dissociation from the catalytic domain of the enzyme. Here, we examine this claim for two c-rings of different lumen width, through calculations of their ion conductance and selectivity based on all-atom molecular dynamics simulations. We also quantify the likelihood that the lumen of these c-rings is in a hydrated, potentially conducting state rather than empty or blocked by lipid molecules. These calculations demonstrate that the structure and biophysical properties of a correctly assembled c-ring are inconsistent with those attributed to the MPTP. C1 [Zhou, Wenchang; Marinelli, Fabrizio; Nief, Corrine; Faraldo-Gomez, Jose D.] NHLBI, Theoret Mol Biophys Sect, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Marinelli, F; Faraldo-Gomez, JD (reprint author), NHLBI, Theoret Mol Biophys Sect, NIH, Bldg 10, Bethesda, MD 20892 USA. EM marinelli@nih.gov; jose.faraldo@nih.gov FU National Heart, Lung, and Blood Institute FX National Heart, Lung, and Blood Institute Wenchang Zhou Fabrizio Marinelli Jose D Faraldo-Gomez.; The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication. NR 39 TC 0 Z9 0 U1 0 U2 0 PU ELIFE SCIENCES PUBLICATIONS LTD PI CAMBRIDGE PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND SN 2050-084X J9 ELIFE JI eLife PD FEB 10 PY 2017 VL 6 AR e23781 DI 10.7554/eLife.23781 PG 11 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EM3WA UT WOS:000395244100001 ER PT J AU Weldon, CB Madenci, AL Boikos, SA Janeway, KA George, S von Mehren, M Pappo, AS Schiffman, JD Wright, J Trent, JC Pacak, K Stratakis, CA Helman, LJ La Quaglia, MP AF Weldon, Christopher B. Madenci, Arin L. Boikos, Sosipatros A. Janeway, Katherine A. George, Suzanne von Mehren, Margaret Pappo, Alberto S. Schiffman, Joshua D. Wright, Jennifer Trent, Jonathan C. Pacak, Karel Stratakis, Constantine A. Helman, Lee J. La Quaglia, Michael P. TI Surgical Management of Wild-Type Gastrointestinal Stromal Tumors: A Report From the National Institutes of Health Pediatric and Wildtype GIST Clinic SO JOURNAL OF CLINICAL ONCOLOGY LA English DT Article ID KINASE INHIBITOR THERAPY; TERM-FOLLOW-UP; PROGNOSTIC-FACTORS; THE-LITERATURE; YOUNG-ADULTS; MUTATIONS; RECURRENCE; RESECTION; KIT; DIAGNOSIS AB Purpose Wild-type gastrointestinal stromal tumors (WT-GISTs) that lack KIT or PDGFRA mutations represent a unique subtype of GIST that predominantly affects children. We sought to determine the effect on event-free survival (EFS) of staging variables, extent of resection, and repeat resection of tumors. Methods In 2008, a WT-GIST clinic was established at the National Cancer Institute, allowing the development of a large clinical database. We included participants who underwent resection of WT-GIST. Associations with EFS (ie, freedom from disease progression or recurrence) were evaluated using the Kaplan-Meier method and Cox proportional hazards modeling. Results Among 76 participants with WT-GISTs, the median follow-up was 4.1 years. Overall EFS (6 SE) was 72.6 +/- 5.4% at 1 year, 57.6 +/- 6.2% at 2 years, 23.7 +/- 6.0% at 5 years, and 16.3 +/- 6 5.5% at 10 years postoperatively. Hazard of disease progression or recurrence was significantly increased for patients with metastatic disease (adjusted hazard ratio [AHR], 2.3; 95% CI, 1.0 to 5.1; P 5.04) and. 5 mitoses per 50 high-power fields (AHR, 2.5; 95% CI, 1.1 to 6.0; P = .03), whereas there was no significant effect of negative microscopic resection margins (AHR, 0.9; 95% CI, 0.4 to 2.2; P = 0.86). There was no association between type of gastric resection (ie, anatomic v partial/wedge) and EFS (P = .67). Repeated resection after the initial resection was significantly associated with decreasing postoperative EFS (P < .01). Five patients (6%) died after initial enrollment in 2008. Conclusion WT-GIST is an indolent disease, and most patients survive with disease progression. We found no improvement in EFS with more extensive or serial resections. Disease progression or recurrence may be more closely related to tumor biology than surgical management. These data suggest that resections for WT-GISTs be restricted to the initial procedure and that subsequent resections be performed only to address symptoms such as obstruction or bleeding. (C) 2016 by American Society of Clinical Oncology C1 [Weldon, Christopher B.; Madenci, Arin L.] Boston Childrens Hosp, Boston, MA USA. [Weldon, Christopher B.; Madenci, Arin L.; Janeway, Katherine A.; George, Suzanne] Harvard Med Sch, Boston, MA USA. [Weldon, Christopher B.; Janeway, Katherine A.; George, Suzanne] Dana Farber Boston Childrens Canc & Blood Disorde, Boston, MA USA. [Madenci, Arin L.] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. [Boikos, Sosipatros A.] Virginia Commonwealth Univ, Massey Canc Ctr, Richmond, VA USA. [von Mehren, Margaret] Fox Chase Canc Ctr, 7701 Burholme Ave, Philadelphia, PA 19111 USA. [Pappo, Alberto S.] St Jude Childrens Res Hosp, 332 N Lauderdale St, Memphis, TN 38105 USA. [Schiffman, Joshua D.; Wright, Jennifer] Huntsman Canc Inst, Salt Lake City, UT USA. [Trent, Jonathan C.] Sylvester Comprehens Canc Ctr, Miami, FL USA. [Pacak, Karel; Stratakis, Constantine A.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD USA. [Helman, Lee J.] NCI, Bethesda, MD 20892 USA. [La Quaglia, Michael P.] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA. [La Quaglia, Michael P.] Weill Cornell Med Coll, New York, NY USA. RP Weldon, CB (reprint author), Dept Surg, 300 Longwood Ave,Fegan 3, Boston, MA 02115 USA. EM christopher.weldon@childrens.harvard.edu FU ArQule; Janssen; Morphotek FX ArQule; ArQule; Janssen, Morphotek NR 28 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC CLINICAL ONCOLOGY PI ALEXANDRIA PA 2318 MILL ROAD, STE 800, ALEXANDRIA, VA 22314 USA SN 0732-183X EI 1527-7755 J9 J CLIN ONCOL JI J. Clin. Oncol. PD FEB 10 PY 2017 VL 35 IS 5 BP 523 EP + DI 10.1200/JCO.2016.68.6733 PG 8 WC Oncology SC Oncology GA EL2KB UT WOS:000394447400001 ER PT J AU Bradley, CJ Yabroff, KR Mariotto, AB Zeruto, C Tran, Q Warren, JL AF Bradley, Cathy J. Yabroff, K. Robin Mariotto, Angela B. Zeruto, Christopher Tran, Quyen Warren, Joan L. TI Antineoplastic Treatment of Advanced-Stage Non-Small-Cell Lung Cancer: Treatment, Survival, and Spending (2000 to 2011) SO JOURNAL OF CLINICAL ONCOLOGY LA English DT Article ID PHASE-III TRIAL; CHEMOTHERAPY USE; THERAPY; BEVACIZUMAB; ERLOTINIB; MEDICARE; COST; ONCOLOGY; UTILITY; CARE AB Purpose Multiple agents for advanced non-small-cell lung cancer (NSCLC) have been approved in the past decade, but little is known about their use and associated spending and survival. Methods We used SEER-Medicare data for elderly patients with a new diagnosis of advanced-stage NSCLC and were treated with antineoplastic agents between 2000 and 2011 (N = 22,163). We estimated the adjusted percentage of patients who received each agent, days while on treatment, survival, and spending in the 12 months after diagnosis. Results During the 12-year study period, a marked shift in treatment occurred along with a rapid adoption of pemetrexed (39.2%), erlotinib (20.3%), and bevacizumab (18.9%) and a decline in paclitaxel (38.7%), gemcitabine (17.0%), and vinorelbine (5.7%; all P < .05). The average total days on therapy increased by 5 days (from 103 to 108 days). Patients who received bevacizumab, erlotinib, or pemetrexed had the longest treatment durations on average (approximately 146 days v 75 days for those who did not receive these agents). Approximately 44% of patients received antineoplastic agents in the last 30 days of life throughout the study period. Acute inpatient spending declined (from $29,376 to $23,731), whereas outpatient spending increased 23% (from $37,931 to $46,642). Median survival gains of 1.5 months were observed. Conclusion Considerable shifts in the treatment of advanced-stage NSCLC occurred along with modest gains in survival and total Medicare spending. More precise outcome information is needed to inform value-based treatment decisions for advanced-stage NSCLC. (C) 2017 by American Society of Clinical Oncology C1 [Bradley, Cathy J.] Univ Colorado, Aurora, CO USA. [Yabroff, K. Robin] US Dept HHS, Washington, DC 20201 USA. [Mariotto, Angela B.; Tran, Quyen; Warren, Joan L.] NCI, Bethesda, MD 20892 USA. [Zeruto, Christopher] Informat Management Serv Inc, Beltsville, MD USA. RP Bradley, CJ (reprint author), Univ Colorado, Ctr Canc, Dept Hlth Syst Management & Policy, 13001 E 17th Pl,B119,Bldg 500,Room N6203L, Aurora, CO 80045 USA. EM cathy.bradley@ucdenver.edu NR 24 TC 0 Z9 0 U1 0 U2 0 PU AMER SOC CLINICAL ONCOLOGY PI ALEXANDRIA PA 2318 MILL ROAD, STE 800, ALEXANDRIA, VA 22314 USA SN 0732-183X EI 1527-7755 J9 J CLIN ONCOL JI J. Clin. Oncol. PD FEB 10 PY 2017 VL 35 IS 5 BP 529 EP + DI 10.1200/JCO.2016.69.4166 PG 8 WC Oncology SC Oncology GA EL2KB UT WOS:000394447400002 ER PT J AU Shea, AA Bernhards, RC Cote, CK Chase, CJ Koehler, JW Klimko, CP Ladner, JT Rozak, DA Wolcott, MJ Fetterer, DP Kern, SJ Koroleva, GI Lovett, SP Palacios, GF Toothman, RG Bozue, JA Worsham, PL Welkos, SL AF Shea, A. A. Bernhards, R. C. Cote, C. K. Chase, C. J. Koehler, J. W. Klimko, C. P. Ladner, J. T. Rozak, D. A. Wolcott, M. J. Fetterer, D. P. Kern, S. J. Koroleva, G. I. Lovett, S. P. Palacios, G. F. Toothman, R. G. Bozue, J. A. Worsham, P. L. Welkos, S. L. TI Two stable variants of Burkholderia pseudomallei strain MSHR5848 express broadly divergent in vitro phenotypes associated with their virulence differences SO PLOS ONE LA English DT Article ID COLONY MORPHOLOGY VARIATION; ANTIGENIC VARIATION; PSEUDOMONAS-PSEUDOMALLEI; CAPSULAR POLYSACCHARIDE; OXIDATIVE STRESS; ANTIMICROBIAL PEPTIDES; CYSTIC-FIBROSIS; MICROARRAY DATA; D-SERINE; MELIOIDOSIS AB Burkholderia pseudomallei (Bp), the agent of melioidosis, causes disease ranging from acute and rapidly fatal to protracted and chronic. Bp is highly infectious by aerosol, can cause severe disease with nonspecific symptoms, and is naturally resistant to multiple antibiotics. However, no vaccine exists. Unlike many Bp strains, which exhibit random variability in traits such as colony morphology, Bp strain MSHR5848 exhibited two distinct and relatively stable colony morphologies on sheep blood agar plates: a smooth, glossy, pale yellow colony and a flat, rough, white colony. Passage of the two variants, designated "Smooth" and "Rough", under standard laboratory conditions produced cultures composed of > 99.9% of the single corresponding type; however, both could switch to the other type at different frequencies when incubated in certain nutritionally stringent or stressful growth conditions. These MSHR5848 derivatives were extensively characterized to identify variant-associated differences. Microscopic and colony morphology differences on six differential media were observed and only the Rough variant metabolized sugars in selective agar. Antimicrobial susceptibilities and lipopolysaccharide (LPS) features were characterized and phenotype microarray profiles revealed distinct metabolic and susceptibility disparities between the variants. Results using the phenotype microarray system narrowed the 1,920 substrates to a subset which differentiated the two variants. Smooth grew more rapidly in vitro than Rough, yet the latter exhibited a nearly 10-fold lower lethal dose for mice than Smooth. Finally, the Smooth variant was phagocytosed and replicated to a greater extent and was more cytotoxic than Rough in macrophages. In contrast, multiple locus sequence type (MLST) analysis, ribotyping, and whole genome sequence analysis demonstrated the variants' genetic conservation; only a single consistent genetic difference between the two was identified for further study. These distinct differences shown by two variants of a Bp strain will be leveraged to better understand the mechanism of Bp phenotypic variability and to possibly identify in vitro markers of infection. C1 [Shea, A. A.; Chase, C. J.; Koehler, J. W.; Rozak, D. A.; Wolcott, M. J.] USAMRIID, Diagnost Syst Div, Frederick, MD USA. [Bernhards, R. C.; Cote, C. K.; Klimko, C. P.; Toothman, R. G.; Bozue, J. A.; Worsham, P. L.; Welkos, S. L.] USAMRIID, Bacteriol Div, Frederick, MD 21702 USA. [Ladner, J. T.; Koroleva, G. I.; Lovett, S. P.; Palacios, G. F.] USAMRIID, Ctr Genome Sci, Frederick, MD USA. [Fetterer, D. P.; Kern, S. J.] USAMRIID, Biostat Serv Div, Frederick, MD USA. [Bernhards, R. C.] Edgewood Chem Biol Ctr, Aberdeen Proving Ground, MD USA. [Kern, S. J.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Welkos, SL (reprint author), USAMRIID, Bacteriol Div, Frederick, MD 21702 USA. EM susan.l.welkos.civ@mail.mil OI Palacios, Gustavo/0000-0001-5062-1938 FU Joint Science & Technology Office for Chemical & Biological Defense (JSTO-CBD), Defense Threat Reduction Agency (DTRA) [CB3846PPE-1, CB10246] FX This research was funded by the Joint Science & Technology Office for Chemical & Biological Defense (JSTO-CBD), Defense Threat Reduction Agency (DTRA) - (1) Project CCAR# CB3846PPE-1 Burkholderia (PatriciaWorsham). (2) Project CB10246: High Speed Sequencing for Rapid Response and Countermeasure Development (GustavoPalacios) http://www.dtra. mil/Research/Chemical-Biological-TechnologyD epartment/. NR 98 TC 0 Z9 0 U1 1 U2 1 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 10 PY 2017 VL 12 IS 2 AR e0171363 DI 10.1371/journal.pone.0171363 PG 32 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK9KV UT WOS:000394244300022 ER PT J AU Shi, Y Lai, XR Ye, LY Chen, KQ Cao, Z Gong, WH Jin, LL Wang, CY Liu, MY Liao, Y Wang, JMM Zhou, NM AF Shi, Ying Lai, Xiangru Ye, Lingyan Chen, Keqiang Cao, Zheng Gong, Wanghua Jin, Lili Wang, Chunyan Liu, Mingyong Liao, Yuan Wang, Ji Ming Zhou, Naiming TI Activated niacin receptor HCA2 inhibits chemoattractant-mediated macrophage migration via G beta gamma/PKC/ERK1/2 pathway and heterologous receptor desensitization SO SCIENTIFIC REPORTS LA English DT Article ID NICOTINIC-ACID RECEPTOR; SUPPRESSES COLONIC INFLAMMATION; PUMA-G; PROTEIN-KINASE; MOLECULAR-IDENTIFICATION; CROSS-DESENSITIZATION; CHEMOKINE RECEPTORS; ARTERIAL BIOLOGY; PHOSPHOLIPASE-C; GAMMA-SUBUNITS AB The niacin receptor HCA2 is implicated in controlling inflammatory host responses with yet poorly understood mechanistic basis. We previously reported that HCA2 in A431 epithelial cells transduced G beta gamma-protein kinase C-and G beta gamma-metalloproteinase/EGFR-dependent MAPK/ERK signaling cascades. Here, we investigated the role of HCA2 in macrophage-mediated inflammation and the underlying mechanisms. We found that proinflammatory stimulants LPS, IL-6 and IL-1 beta up-regulated the expression of HCA2 on macrophages. Niacin significantly inhibited macrophage chemotaxis in response to chemoattractants fMLF and CCL2 by disrupting polarized distribution of F-actin and G beta protein. Niacin showed a selected additive effect on chemoattractant-induced activation of ERK1/2, JNK and PI3K pathways, but only the MEK inhibitor UO126 reduced niacin-mediated inhibition of macrophage chemotaxis, while activation of ERK1/2 by EGF alone did not inhibit fMLF-mediated migration of HEK293T cells co-expressing HCA2 and fMLF receptor FPR1. In addition, niacin induced heterologous desensitization and internalization of FPR1. Furthermore, niacin rescued mice from septic shock by diminishing inflammatory symptoms and the effect was abrogated in HCA2(-/-)mice. These results suggest that G beta gamma/PKC-dependent ERK1/2 activation and heterologous desensitization of chemoattractant receptors are involved in the inhibition of chemoattractant-induced migration of macrophages by niacin. Thus, HCA2 plays a critical role in host protection against pro-inflammatory insults. C1 [Shi, Ying; Lai, Xiangru; Ye, Lingyan; Cao, Zheng; Jin, Lili; Liao, Yuan; Zhou, Naiming] Zhejiang Univ, Coll Life Sci, Yu Hang Tang Load 388, Hangzhou, Zhejiang, Peoples R China. [Chen, Keqiang; Gong, Wanghua; Wang, Chunyan; Liu, Mingyong; Wang, Ji Ming] NCI, Canc & Inflammat Program, Ctr Canc Res, NIH, Frederick, MD 21702 USA. [Wang, Chunyan] Xuzhou Yes Biotech Labs Ltd, Xuzhou, Jiangsu, Peoples R China. [Liu, Mingyong] Third Mil Med Univ, Daping Hosp, Dept Spine Surg, Chongqing, Peoples R China. RP Zhou, NM (reprint author), Zhejiang Univ, Coll Life Sci, Yu Hang Tang Load 388, Hangzhou, Zhejiang, Peoples R China.; Wang, JMM (reprint author), NCI, Canc & Inflammat Program, Ctr Canc Res, NIH, Frederick, MD 21702 USA. EM wangji@mail.nih.gov; zhounaiming@zju.edu.cn FU Ministry of Science and Technology of China [2012CB910402, 2012AA020303]; National Natural Science Foundation of China [81173106, 31200621]; Zhejiang Provincial Natural Science Foundation of China [LY15C050001]; Siyuan Foundation; National Cancer Institute, National Institutes of Health [HSN261200800001E]; Intramural Research Program of the NCI,NIH FX We thank Dr. Stefan Offermanns of Max-Planck-Institute for Heart and Lung Research, Germany for providing Hca2 KO (C57BL) breeders, and We also thank the staff of Immunohistochemistry Facility of College of Pharmacological Science for preparation of frozen sections. This work was supported by grants from the Ministry of Science and Technology of China (2012CB910402 and 2012AA020303), the National Natural Science Foundation of China (81173106 and 31200621), Zhejiang Provincial Natural Science Foundation of China (LY15C050001) and Siyuan Foundation. This project was also funded in part by federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HSN261200800001E and was supported in part by the Intramural Research Program of the NCI, NIH. NR 71 TC 0 Z9 0 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 10 PY 2017 VL 7 AR 42279 DI 10.1038/srep42279 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK7IM UT WOS:000394099500001 PM 28186140 ER PT J AU Choi, YJ Lin, CP Risso, D Chen, S Kim, TA Tan, MH Li, JB Wu, YL Chen, CF Xuan, ZY Macfarlan, T Peng, WQ Lloyd, KCK Kim, SY Speed, TP He, L AF Choi, Yong Jin Lin, Chao-Po Risso, Davide Chen, Sean Kim, Thomas Aquinas Tan, Meng How Li, Jin Billy Wu, Yalei Chen, Caifu Xuan, Zhenyu Macfarlan, Todd Peng, Weiqun Lloyd, K. C. Kent Kim, Sang Yong Speed, Terence P. He, Lin TI Deficiency of microRNA miR-34a expands cell fate potential in pluripotent stem cells SO SCIENCE LA English DT Article ID STAGE MOUSE BLASTOMERES; GENE-EXPRESSION; MUERV-L; EMBRYOS; DIFFERENTIATION; P53; CONTRIBUTES; APOPTOSIS; ENDODERM; BIOLOGY AB Embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs) efficiently generate all embryonic cell lineages but rarely generate extraembryonic cell types. We found that microRNA miR-34a deficiency expands the developmental potential of mouse pluripotent stem cells, yielding both embryonic and extraembryonic lineages and strongly inducing MuERV-L (MERVL) endogenous retroviruses, similar to what is seen with features of totipotent two-cell blastomeres. miR-34a restricts the acquisition of expanded cell fate potential in pluripotent stem cells, and it represses MERVL expression through transcriptional regulation, at least in part by targeting the transcription factor Gata2. Our studies reveal a complex molecular network that defines and restricts pluripotent developmental potential in cultured ESCs and iPSCs. C1 [Choi, Yong Jin; Lin, Chao-Po; Chen, Sean; Kim, Thomas Aquinas; He, Lin] Univ Calif Berkeley, Div Cellular & Dev Biol, Dept Mol & Cell Biol, Berkeley, CA 94705 USA. [Risso, Davide] Univ Calif Berkeley, Sch Publ Hlth, Div Biostat, Berkeley, CA 94720 USA. [Tan, Meng How; Li, Jin Billy] Stanford Univ, Dept Genet, Stanford, CA 94305 USA. [Wu, Yalei] Thermo Fisher Sci, 180 Oyster Point Blvd, San Francisco, CA 94080 USA. [Chen, Caifu] Integrated DNA Technol, 200 Chesapeake Dr, Redwood City, CA 94063 USA. [Xuan, Zhenyu] Univ Texas Dallas, Dept Mol & Cell Biol, Richardson, TX 75080 USA. [Macfarlan, Todd] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Bethesda, MD 20892 USA. [Peng, Weiqun] George Washington Univ, Dept Phys, Washington, DC 20052 USA. [Lloyd, K. C. Kent] Univ Calif Davis, Mouse Biol Program, Davis, CA 95616 USA. [Kim, Sang Yong] NYU, Sch Med, Dept Pathol, New York, NY 10016 USA. [Speed, Terence P.] Univ Calif Berkeley, Dept Stat, Berkeley, CA 94720 USA. [Speed, Terence P.] Univ Melbourne, Dept Math & Stat, Parkville, Vic 3010, Australia. [Speed, Terence P.] Walter & Eliza Hall Inst Med Res, Bioinformat Div, Parkville, Vic 3052, Australia. RP Lin, CP; He, L (reprint author), Univ Calif Berkeley, Div Cellular & Dev Biol, Dept Mol & Cell Biol, Berkeley, CA 94705 USA. EM newcplin@gmail.com; lhe@berkeley.edu OI Lin, Chao-Po/0000-0002-1457-1635; Kim, Sang Yong /0000-0001-7326-7505 FU NIH [S10RR029668, S10RR027303, U01MH105979]; California Institute for Regenerative Medicine (CIRM) [RN2-00923-1]; National Cancer Institute [R01 CA139067]; National Institute of General Medical Sciences [R01GM114414]; Howard Hughes Medical Institute; CIRM predoctoral fellowship; Cancer Research Coordinating Committee (CRCC) predoctoral fellowship; Siebel postdoctoral fellowship; CIRM postdoctoral fellowship; UT Dallas faculty startup fund FX We thank V. Prideaux, W. Wang, R. Huang, K. N. Li, H. Aaron, J.-Y. Lee, W. Xu, J. Ong, P. Cheung, B. Zaghi, M. Chung, J. Choi, A. Li, A. Perez, W. Bao, S. Tindall, K. Zhao, K. Cui, B. Xue, O. Tam, K. Heydari, A. Valeros, M. J. Bennett, C. Cattoglio, D. Young, N. Anchell, J. A. Wood, A. Y.-F. Lee, and H. Noller for technical assistance; L. Xie, V. A. Modzelewski, and R. Song for discussion and input; T. Heidmann, J. Rossant, A. Li, V. Krizhanovsky, M. Stadtfeld, M. C. Lorincz, Y. Shinkai, D. Trono, T. Chen, and R. Jaenisch for sharing valuable reagents; P. Margolis for carefully reading the manuscript; and M. Rape and N. Patel for sharing the use of an Olympus Revolution XD spinning disk confocal microscope and a Zeiss LSM 700 confocal microscope. This work used the Vincent J. Coates Genomics Sequencing Laboratory at UC Berkeley (supported by NIH S10 instrumentation grants S10RR029668 and S10RR027303) and the computing resource provided by the Center for Systems Biology, UT Dallas. Supported by California Institute for Regenerative Medicine (CIRM) new faculty award RN2-00923-1, National Cancer Institute grant R01 CA139067, National Institute of General Medical Sciences grant R01GM114414, and a Howard Hughes Medical Institute faculty scholar award (L. H.); a CIRM predoctoral fellowship and a Cancer Research Coordinating Committee (CRCC) predoctoral fellowship (S. C.); a Siebel postdoctoral fellowship and a CIRM postdoctoral fellowship (C-P. L.); NIH grant U01MH105979 (D. R.); and the UT Dallas faculty startup fund (Z.X.). The RNA sequencing data are publicly available at the NCBI Gene Expression Omnibus with accession number GSE69484. The annotation of retrotransposons in GFF format is available as supplementary data. NR 53 TC 1 Z9 1 U1 12 U2 12 PU AMER ASSOC ADVANCEMENT SCIENCE PI WASHINGTON PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA SN 0036-8075 EI 1095-9203 J9 SCIENCE JI Science PD FEB 10 PY 2017 VL 355 IS 6325 BP 596 EP + DI 10.1126/science.aag1927 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK0SF UT WOS:000393636700040 ER PT J AU Solanki, S Dube, PR Birnbaumer, L Vazquez, G AF Solanki, Sumeet Dube, Prabhatchandra R. Birnbaumer, Lutz Vazquez, Guillermo TI Reduced Necrosis and Content of Apoptotic M1 Macrophages in Advanced Atherosclerotic Plaques of Mice With Macrophage-Specific Loss of Trpc3 SO SCIENTIFIC REPORTS LA English DT Article ID FOAM CELL-FORMATION; CARDIOVASCULAR-DISEASE; KNOCKOUT MOUSE; MURINE MODELS; CHANNELS; LESIONS; RUPTURE; ROLES; EFFEROCYTOSIS; EXPRESSION AB In previous work we reported that ApoeKO mice transplanted with bone marrow cells deficient in the Transient Receptor Potential Canonical 3 (TRPC3) channel have reduced necrosis and number of apoptotic macrophages in advanced atherosclerotic plaques. Also, in vitro studies with polarized macrophages derived from mice with macrophage-specific loss of TRPC3 showed that M1, but not M2 macrophages, deficient in Trpc3 are less susceptible to ER stress-induced apoptosis than Trpc3 expressing cells. The questions remained (a) whether the plaque phenotype in transplanted mice resulted from a genuine effect of Trpc3 on macrophages, and (b) whether the reduced necrosis and macrophage apoptosis in plaques of these mice was a manifestation of the selective effect of TRPC3 on apoptosis of M1 macrophages previously observed in vitro. Here, we addressed these questions using Ldlr knockout (Ldlr(-/-)) mice with macrophage-specific loss of Trpc3 (MacTrpc3(-/-)/Ldlr(-/-)-> Ldlr(-/-)). Compared to controls, we observed decreased plaque necrosis and number of apoptotic macrophages in MacTrpc3(-/-)/Ldlr(-/-)-> Ldlr(-/-) mice. Immunohistochemical analysis revealed a reduction in apoptotic M1, but not apoptotic M2 macrophages. These findings confirm an effect of TRPC3 on plaque necrosis and support the notion that this is likely a reflection of the reduced susceptibility of Trpc3-deficient M1 macrophages to apoptosis. C1 [Solanki, Sumeet; Dube, Prabhatchandra R.; Vazquez, Guillermo] Univ Toledo, Coll Med & Life Sci, Dept Physiol & Pharmacol, Hlth Sci Campus,3000 Transverse Dr, Toledo, OH 43614 USA. [Solanki, Sumeet; Dube, Prabhatchandra R.; Vazquez, Guillermo] Univ Toledo, Coll Med & Life Sci, Ctr Hypertens & Personalized Med, Hlth Sci Campus,3000 Transverse Dr, Toledo, OH 43614 USA. [Birnbaumer, Lutz] NIEHS, Neurobiol Lab, 111 TW Alexander Dr, Res Triangle Pk, NC 27709 USA. [Birnbaumer, Lutz] Fac Med Sci, BIOMED UCA CONICET, Inst Biomed Res, Av Alicia Moreau de Justo 1600,C1107AFF, Buenos Aires, Aires, Argentina. RP Vazquez, G (reprint author), Univ Toledo, Coll Med & Life Sci, Dept Physiol & Pharmacol, Hlth Sci Campus,3000 Transverse Dr, Toledo, OH 43614 USA.; Vazquez, G (reprint author), Univ Toledo, Coll Med & Life Sci, Ctr Hypertens & Personalized Med, Hlth Sci Campus,3000 Transverse Dr, Toledo, OH 43614 USA. EM Guillermo.Vazquez@utoledo.edu FU NIH grant [R01HL111877-04]; University of Toledo College of Medicine and Life Sciences; Intramural Research Program of the NIH Project [Z01-ES-101864]; American Heart Association (Great Rivers Affiliate) Pre-doctoral fellowship [15PRE24700002] FX Work was supported by NIH grant R01HL111877-04 (to G.V.), the University of Toledo College of Medicine and Life Sciences (G.V.), the Intramural Research Program of the NIH Project Z01-ES-101864 (to L.B.) and American Heart Association (Great Rivers Affiliate) Pre-doctoral fellowship 15PRE24700002 (to S.S.). NR 47 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 10 PY 2017 VL 7 AR 42526 DI 10.1038/srep42526 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK2UY UT WOS:000393783400001 PM 28186192 ER PT J AU Alsuliman, A Muftuoglu, M Khoder, A Ahn, YO Basar, R Verneris, MR Muranski, P Barrett, AJ Liu, E Li, L Stringaris, K Armstrong-James, D Shaim, H Kondo, K Imahashi, N Andersson, B Marin, D Champlin, RE Shpall, EJ Rezvani, K AF Alsuliman, Abdullah Muftuoglu, Muharrem Khoder, Ahmad Ahn, Yong-Oon Basar, Rafet Verneris, Michael R. Muranski, Pawel Barrett, A. John Liu, Enli Li, Li Stringaris, Kate Armstrong-James, Darius Shaim, Hila Kondo, Kayo Imahashi, Nobuhiko Andersson, Borje Marin, David Champlin, Richard E. Shpall, Elizabeth J. Rezvani, Katayoun TI A subset of virus-specific CD161(+) T cells selectively express the multidrug transporter MDR1 and are resistant to chemotherapy in AML SO BLOOD LA English DT Article ID HEMATOPOIETIC STEM-CELLS; P-GLYCOPROTEIN; TH17 CELLS; MYELOID-LEUKEMIA; MEMORY; LYMPHOCYTES; IMMUNITY; NAIVE; BET; DIFFERENTIATION AB The establishment of long-lived pathogen-specific T cells is a fundamental property of the adaptive immune response. However, the mechanisms underlying long-term persistence of antigen-specific CD4(+) T cells are not well-defined. Here we identify a subset of memory CD4(+) T cells capable of effluxing cellular toxins, including rhodamine (Rho), through the multidrug efflux protein MDR1 (also known as P-glycoprotein and ABCB1). Drug-effluxing CD4(+) T cells were characterized as CD161(+)CD95(+)CD45RA(-)CD127(hi)CD28(+)CD25(int) cells with a distinct chemokine profile and a Th1-polarized pro-inflammatory phenotype. CD4(+) CD161(+) Rho-effluxing T cells proliferated vigorously in response to stimulation with antiCD3/CD28 beads and gave rise to CD161(-) progeny in vitro. These cells were also capable of self-renewal and maintained their phenotypic and functional characteristics when cultured with homeostatic cytokines. Multidrug-effluxing CD4(+) CD161(+) T cells were enriched within the viral-specific Th1 repertoire of healthy donors and patients with acute myeloid leukemia (AML) and survived exposure to daunorubicin chemotherapy in vitro. Multidrug-effluxing CD4(+) CD161(+) T cells also resisted chemotherapy-induced cytotoxicity in vivo and underwent significant expansion in AML patients rendered lymphopenic after chemotherapy, contributing to the repopulation of anti-CMV immunity. Finally, after influenza vaccination, the proportion of influenza-specific CD4(+) T cells coexpressing CD161 was significantly higher after 2 years compared with 4 weeks after immunization, suggesting CD161 is a marker for long-lived antigen-specific memory T cells. These findings suggest that CD4(+) CD161 1 T cells with rapid efflux capacity contribute to the maintenance of viral-specific memory T cells. These data provide novel insights into mechanisms that preserve antiviral immunity in patients undergoing chemotherapy and have implications for the development of novel immunotherapeutic approaches. C1 [Alsuliman, Abdullah; Muftuoglu, Muharrem; Basar, Rafet; Liu, Enli; Li, Li; Shaim, Hila; Kondo, Kayo; Imahashi, Nobuhiko; Andersson, Borje; Marin, David; Champlin, Richard E.; Shpall, Elizabeth J.; Rezvani, Katayoun] MD Anderson Canc Ctr, Stem Cell Transplantat & Cellular Therapy, Houston, TX USA. [Khoder, Ahmad; Stringaris, Kate] Imperial Coll London, Dept Hematol, London, England. [Ahn, Yong-Oon; Verneris, Michael R.] Univ Minnesota, Dept Pediat, Div Hematol Oncol, Minneapolis, MN USA. [Muranski, Pawel; Barrett, A. John] Natl Inst Hlth, Natl Heart Lung & Blood Inst, Hematol Branch, Bethesda, MD USA. [Armstrong-James, Darius] Imperial Coll London, Natl Heart & Lung Inst, Fac Med, London, England. RP Rezvani, K (reprint author), MD Anderson Canc Ctr, Stem Cell Transplantat & Cellular Therapy, Houston, TX USA. EM krezvani@mdanderson.org FU National Institutes of Health, National Cancer Institute grants [P01 CA148600-02, RO1 CA061508-18]; National Institutes of Health through M. D. Anderson's Cancer Center Support Grant [CA016672] FX This work was funded in part by National Institutes of Health, National Cancer Institute grants P01 CA148600-02 and RO1 CA061508-18. The flow studies were performed in the Flow Cytometry & Cellular Imaging Facility, which is supported in part by the National Institutes of Health through M. D. Anderson's Cancer Center Support Grant CA016672. NR 36 TC 1 Z9 1 U1 1 U2 1 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD FEB 9 PY 2017 VL 129 IS 6 BP 740 EP 758 DI 10.1182/blood-2016-05-713347 PG 19 WC Hematology SC Hematology GA EO9OD UT WOS:000397017100013 PM 27821506 ER PT J AU Tubbs, A Nussenzweig, A AF Tubbs, Anthony Nussenzweig, Andre TI Endogenous DNA Damage as a Source of Genomic Instability in Cancer SO CELL LA English DT Review ID DOUBLE-STRAND BREAKS; REGIONAL MUTATION-RATES; SOMATIC MUTATIONS; PROSTATE-CANCER; CHROMOSOMAL REARRANGEMENTS; TRANSCRIPTION STRESS; SEQUENCING REVEALS; SUPER-ENHANCERS; TOPOISOMERASE 1; STEM-CELLS AB Genome instability, defined as higher than normal rates of mutation, is a double-edged sword. As a source of genetic diversity and natural selection, mutations are beneficial for evolution. On the other hand, genomic instability can have catastrophic consequences for age-related diseases such as cancer. Mutations arise either from inactivation of DNA repair pathways or in a repair-competent background due to genotoxic stress from celluar processes such as transcription and replication that overwhelm high-fidelity DNA repair. Here, we review recent studies that shed light on endogenous sources of mutation and epigenomic features that promote genomic instability during cancer evolution. C1 [Tubbs, Anthony; Nussenzweig, Andre] NIH, Lab Genome Integr, Bldg 10, Bethesda, MD 20892 USA. RP Nussenzweig, A (reprint author), NIH, Lab Genome Integr, Bldg 10, Bethesda, MD 20892 USA. EM andre_nussenzweig@nih.gov FU NIH; National Cancer Institute; Center for Cancer Research; US Department of Defense [BC133858, BC151331]; Ellison Foundation; Alex's Lemonade Stand Foundation; American Cancer Society [PF-16-037-01-DMC] FX We are especially grateful to Joshua Waterfall, Ferenc Livak, Avinash Bhandoola, and Sam John for comments on the manuscript and to Jiri Lukas, Keith Caldecott, and Yossi Shiloh for discussions. This work was supported by the Intramural Research Program of the NIH, the National Cancer Institute, and the Center for Cancer Research. A.N. was also supported by the US Department of Defense (BCRP DOD Idea Expansion Award BC133858 and BCRP Breakthrough Award BC151331), the Ellison Foundation Award for Aging Research, and Alex's Lemonade Stand Foundation Reach Award. A.T. has been supported by a fellowship from the American Cancer Society (PF-16-037-01-DMC). NR 92 TC 0 Z9 0 U1 8 U2 8 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0092-8674 EI 1097-4172 J9 CELL JI Cell PD FEB 9 PY 2017 VL 168 IS 4 DI 10.1016/j.cell.2017.01.002 PG 13 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EN8VJ UT WOS:000396277600015 PM 28187286 ER PT J AU Haft, DR Haft, DH AF Haft, David Renfrew Haft, Daniel H. TI A comprehensive software suite for protein family construction and functional site prediction SO PLOS ONE LA English DT Article ID COMPARATIVE GENOMICS; MICROBIOLOGY; ANNOTATION AB In functionally diverse protein families, conservation in short signature regions may outperform full-length sequence comparisons for identifying proteins that belong to a subgroup within which one specific aspect of their function is conserved. The SIMBAL workflow (Sites Inferred by Metabolic Background Assertion Labeling) is a data-mining procedure for finding such signature regions. It begins by using clues from genomic context, such as co-occurrence or conserved gene neighborhoods, to build a useful training set from a large number of uncharacterized but mutually homologous proteins. When training set construction is successful, the YES partition is enriched in proteins that share function with the user's query sequence, while the NO partition is depleted. A selected query sequence is then mined for short signature regions whose closest matches overwhelmingly favor proteins from the YES partition. High-scoring signature regions typically contain key residues critical to functional specificity, so proteins with the highest sequence similarity across these regions tend to share the same function. The SIMBAL algorithm was described previously, but significant manual effort, expertise, and a supporting software infrastructure were required to prepare the requisite training sets. Here, we describe a new, distributable software suite that speeds up and simplifies the process for using SIMBAL, most notably by providing tools that automate training set construction. These tools have broad utility for comparative genomics, allowing for flexible collection of proteins or protein domains based on genomic context as well as homology, a capability that can greatly assist in protein family construction. Armed with this new software suite, SIMBAL can serve as a fast and powerful in silico alternative to direct experimentation for characterizing proteins and their functional interactions. C1 [Haft, David Renfrew] J Craig Venter Inst, Rockville, MD USA. [Haft, Daniel H.] Natl Lib Med, Natl Ctr Biotechnol Informat, NIH, Bethesda, MD 20894 USA. RP Haft, DH (reprint author), Natl Lib Med, Natl Ctr Biotechnol Informat, NIH, Bethesda, MD 20894 USA. EM daniel.haft@nih.gov FU National Science Foundationunder [1458808] FX This work was supported by the National Science Foundationunder Grant No.1458808 to the J.Craig Venter Institute and by the Intramural Research Program of the NIH, National Library of Medicine. The funders had no role in study design data collection and analysis, decision to publish, or preparation of the manuscript. NR 22 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 9 PY 2017 VL 12 IS 2 AR e0171758 DI 10.1371/journal.pone.0171758 PG 15 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK9GJ UT WOS:000394231800102 PM 28182651 ER PT J AU Kugelman, JR Wiley, MR Nagle, ER Reyes, D Pfeffer, BP Kuhn, JH Sanchez-Lockhart, M Palacios, GF AF Kugelman, Jeffrey R. Wiley, Michael R. Nagle, Elyse R. Reyes, Daniel Pfeffer, Brad P. Kuhn, Jens H. Sanchez-Lockhart, Mariano Palacios, Gustavo F. TI Error baseline rates of five sample preparation methods used to characterize RNA virus populations SO PLOS ONE LA English DT Article ID LIBRARY PREPARATION; SEQUENCING DATA; QUALITY-CONTROL; EBOLA-VIRUS; GENOMES; REPLICATION; VARIANTS; COLI AB Individual RNA viruses typically occur as populations of genomes that differ slightly from each other due to mutations introduced by the error-prone viral polymerase. Understanding the variability of RNA virus genome populations is critical for understanding virus evolution because individual mutant genomes may gain evolutionary selective advantages and give rise to dominant sub populations, possibly even leading to the emergence of viruses resistant to medical countermeasures. Reverse transcription of virus genome populations followed by next-generation sequencing is the only available method to characterize variation for RNA viruses. However, both steps may lead to the introduction of artificial mutations, thereby skewing the data. To better understand how such errors are introduced during sample preparation, we determined and compared error baseline rates of five different sample preparation methods by analyzing in vitro transcribed Ebola virus RNA from an artificial plasmid-based system. These methods included: shotgun sequencing from plasmid DNA or in vitro transcribed RNA as a basic "no amplification" method, amplicon sequencing from the plasmid DNA or in vitro transcribed RNA as a "targeted" amplification method, sequenceindependent single-primer amplification (SISPA) as a "random" amplification method, rolling circle reverse transcription sequencing (CirSeq) as an advanced "no amplification" method, and Illumina TruSeq RNA Access as a "targeted" enrichment method. The measured error frequencies indicate that RNA Access offers the best tradeoff between sensitivity and sample preparation error (1.4(-5)) of all compared methods. C1 [Kugelman, Jeffrey R.; Wiley, Michael R.; Nagle, Elyse R.; Reyes, Daniel; Pfeffer, Brad P.; Sanchez-Lockhart, Mariano; Palacios, Gustavo F.] US Army, Med Res Inst Infect Dis, Ctr Genome Sci, Frederick, MD 21702 USA. [Kuhn, Jens H.] NIAID, Integrated Res Facil Ft Detrick IRF Frederick, NIH, Frederick, MD USA. RP Palacios, GF (reprint author), US Army, Med Res Inst Infect Dis, Ctr Genome Sci, Frederick, MD 21702 USA. EM gustavo.f.palacios.ctr@mail.mil OI Palacios, Gustavo/0000-0001-5062-1938 FU Defense Threat Reduction Agency; Battelle Memorial Institute's prime; US National Institute of Allergy and Infectious Diseases (NIAID) [HHSN272200700016I]; Tunnell Government Services, Inc. FX This work was supported by Defense Threat Reduction Agency and Battelle Memorial Institute's prime contract with the US National Institute of Allergy and Infectious Diseases (NIAID)under Contract No. HHSN272200700016I (J.H.K.). A subcontractor to Battelle Memorial Institute who performed this work is : J.H.K., an employee of Tunnell Government Services, Inc. NR 34 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 9 PY 2017 VL 12 IS 2 AR e0171333 DI 10.1371/journal.pone.0171333 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK9GJ UT WOS:000394231800055 PM 28182717 ER PT J AU Taye, M Kim, J Yoon, SH Lee, W Hanotte, O Dessie, T Kemp, S Mwai, OA Caetano-Anolles, K Cho, S Oh, SJ Lee, HK Kim, H AF Taye, Mengistie Kim, Jaemin Yoon, Sook Hee Lee, Wonseok Hanotte, Olivier Dessie, Tadelle Kemp, Stephen Mwai, Okeyo Ally Caetano-Anolles, Kelsey Cho, Seoae Oh, Sung Jong Lee, Hak-Kyo Kim, Heebal TI Whole genome scan reveals the genetic signature of African Ankole cattle breed and potential for higher quality beef SO BMC GENETICS LA English DT Article DE African cattle; Ankole cattle; Meat quality; Sanga cattle; XP-CLR; XP-EHH ID RESIDUAL FEED-INTAKE; DIFFERENTIALLY EXPRESSED GENES; INTRAMUSCULAR FAT-CONTENT; PORCINE SKELETAL-MUSCLE; LARGE WHITE-PIGS; MEAT QUALITY; CANDIDATE GENES; FUNCTIONAL-ANALYSIS; POSITIVE SELECTION; WIDE ASSOCIATION AB Background: Africa is home to numerous cattle breeds whose diversity has been shaped by subtle combinations of human and natural selection. African Sanga cattle are an intermediate type of cattle resulting from interbreeding between Bos taurus and Bos indicus subspecies. Recently, research has asserted the potential of Sanga breeds for commercial beef production with better meat quality as compared to Bos indicus breeds. Here, we identified meat quality related gene regions that are positively selected in Ankole (Sanga) cattle breeds as compared to indicus (Boran, Ogaden, and Kenana) breeds using cross-population (XP-EHH and XP-CLR) statistical methods. Results: We identified 238 (XP-EHH) and 213 (XP-CLR) positively selected genes, of which 97 were detected from both statistics. Among the genes obtained, we primarily reported those involved in different biological process and pathways associated with meat quality traits. Genes (CAPZB, COL9A2, PDGFRA, MAP3K5, ZNF410, and PKM2) involved in muscle structure and metabolism affect meat tenderness. Genes (PLA2G2A, PARK2, ZNF410, MAP2K3, PLCD3, PLCD1, and ROCK1) related to intramuscular fat (IMF) are involved in adipose metabolism and adipogenesis. MB and SLC48A1 affect meat color. In addition, we identified genes (TIMP2, PKM2, PRKG1, MAP3K5, and ATP8A1) related to feeding efficiency. Among the enriched Gene Ontology Biological Process (GO BP) terms, actin cytoskeleton organization, actin filament-based process, and protein ubiquitination are associated with meat tenderness whereas cellular component organization, negative regulation of actin filament depolymerization and negative regulation of protein complex disassembly are involved in adipocyte regulation. The MAPK pathway is responsible for cell proliferation and plays an important role in hyperplastic growth, which has a positive effect on meat tenderness. Conclusion: Results revealed several candidate genes positively selected in Ankole cattle in relation to meat quality characteristics. The genes identified are involved in muscle structure and metabolism, and adipose metabolism and adipogenesis. These genes help in the understanding of the biological mechanisms controlling beef quality characteristics in African Ankole cattle. These results provide a basis for further research on the genomic characteristics of Ankole and other Sanga cattle breeds for quality beef. C1 [Taye, Mengistie; Yoon, Sook Hee; Lee, Wonseok; Kim, Heebal] Seoul Natl Univ, Dept Agr Biotechnol, Anim Biotechnol & Res Inst Agr & Life Sci, Seoul 151921, South Korea. [Taye, Mengistie] Bahir Dar Univ, Coll Agr & Environm Sci, POB 79, Bahir Dar, Ethiopia. [Kim, Jaemin] NHGRI, NIH, 50 South Dr,Bldg 50,Room 5351, Bethesda, MD 20892 USA. [Hanotte, Olivier] Univ Nottingham, Sch Life Sci, Nottingham NG7 2RD, England. [Hanotte, Olivier; Dessie, Tadelle] ILRI, POB 5689, Addis Ababa, Ethiopia. [Kemp, Stephen; Mwai, Okeyo Ally] ILRI, POB 30709-00100, Nairobi, Kenya. [Kemp, Stephen] Univ Edinburgh, Roslin Inst, Ctr Trop Livestock Genet & Hlth, Easter Bush Campus, Roslin EH25 9RG, Midlothian, Scotland. [Caetano-Anolles, Kelsey] Univ Illinois, Dept Anim Sci, Urbana, IL 61801 USA. [Cho, Seoae; Kim, Heebal] C&K Genom, Main Bldg 514,SNU Res Pk, Seoul 151919, South Korea. [Oh, Sung Jong] RDA, Natl Inst Anim Sci, Wonju, South Korea. [Lee, Hak-Kyo] Chonbuk Natl Univ, Dept Anim Biotechnol, Anim Mol Genet & Breeding Ctr, Jeonju 561756, South Korea. [Kim, Heebal] Shinshu Univ, Inst Biomed Sci, Nagano, Japan. RP Kim, H (reprint author), Seoul Natl Univ, Dept Agr Biotechnol, Anim Biotechnol & Res Inst Agr & Life Sci, Seoul 151921, South Korea.; Kim, H (reprint author), C&K Genom, Main Bldg 514,SNU Res Pk, Seoul 151919, South Korea. EM heebal@snu.ac.kr FU Next-Generation BioGreen 21 Program, Rural Development Administration (RDA), Republic of Korea [PJ01134905] FX This work was supported by a grant from the Next-Generation BioGreen 21 Program (Project No. PJ01134905), Rural Development Administration (RDA), Republic of Korea. NR 96 TC 0 Z9 0 U1 2 U2 2 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2156 J9 BMC GENET JI BMC Genet. PD FEB 9 PY 2017 VL 18 AR 11 DI 10.1186/s12863-016-0467-1 PG 14 WC Genetics & Heredity SC Genetics & Heredity GA EK7UW UT WOS:000394131700001 PM 28183280 ER PT J AU Carmona-Rivera, C Purmalek, MM Moore, E Waldman, M Walter, PJ Garraffo, HM Phillips, KA Preston, KL Graf, J Kaplan, MJ Grayson, PC AF Carmona-Rivera, Carmelo Purmalek, Monica M. Moore, Erica Waldman, Meryl Walter, Peter J. Garraffo, H. Martin Phillips, Karran A. Preston, Kenzie L. Graf, Jonathan Kaplan, Mariana J. Grayson, Peter C. TI A role for muscarinic receptors in neutrophil extracellular trap formation and levamisole-induced autoimmunity SO JCI INSIGHT LA English DT Article ID ACETYLCHOLINE-RECEPTORS; NETTING NEUTROPHILS; RHEUMATIC-DISEASES; VAGUS NERVE; MICE; COCAINE; CONTRACTION; ANTIBODIES; VASCULITIS; AORTA AB Levamisole, an anthelmintic drug with cholinergic properties, has been implicated in cases of drug-induced vasculitis when added to cocaine for profit purposes. Neutrophil extracellular trap (NET) formation is a cell death mechanism characterized by extrusion of chromatin decorated with granule proteins. Aberrant NET formation and degradation have been implicated in idiopathic autoimmune diseases that share features with levamisole-induced autoimmunity as well as in drug-induced autoimmunity. This study's objective was to determine how levamisole modulates neutrophil biology and its putative effects on the vasculature. Murine and human neutrophils exposed to levamisole demonstrated enhanced NET formation through engagement of muscarinic subtype 3 receptor. Levamisole-induced NETosis required activation of Akt and the RAF/MEK/ERK pathway, ROS induction through the nicotinamide adenine dinucleotide phosphate oxidase, and peptidylarginine deiminase activation. Sera from two cohorts of patients actively using levamisole-adulterated cocaine displayed autoantibodies against NET components. Cutaneous biopsy material obtained from individuals exposed to levamisole suggests that neutrophils produce NETs in areas of vasculitic inflammation and thrombosis. NETs generated by levamisole were toxic to endothelial cells and impaired endothelium-dependent vasorelaxation. Stimulation of muscarinic receptors on neutrophils by cholinergic agonists may contribute to the pathophysiology observed in drug-induced autoimmunity through the induction of inflammatory responses and neutrophil-induced vascular damage. C1 [Carmona-Rivera, Carmelo; Purmalek, Monica M.; Moore, Erica; Kaplan, Mariana J.; Grayson, Peter C.] Natl Inst Arthrit & Musculoskeletal & Skin Dis NI, Syst Autoimmun Branch, Bethesda, MD USA. [Waldman, Meryl; Walter, Peter J.; Garraffo, H. Martin] NIDDK, NIH, Bethesda, MD USA. [Phillips, Karran A.; Preston, Kenzie L.] NIDA, NIH, Baltimore, MD USA. [Graf, Jonathan] UCSF, Div Rheumatol, San Francisco, CA USA. RP Kaplan, MJ (reprint author), NIAMSD, Syst Autoimmun Branch, NIH, 10 Ctr Dr,6D-47C, Bethesda, MD 20892 USA. EM mariana.kaplan@nih.gov FU Intramural Research Program at the NIAMS [NIH ZIA AR041199] FX This research was supported by the Intramural Research Program at the NIAMS (NIH ZIA AR041199). Cl-amidine was provided by Paul Thompson and Venkataraman Subramaniam. Ann Biehl performed calculations to determine physiologic concentrations of levamisole. We also thank Jorge Irizarry-Caro for technical support. NR 58 TC 0 Z9 0 U1 3 U2 3 PU AMER SOC CLINICAL INVESTIGATION INC PI ANN ARBOR PA 2015 MANCHESTER RD, ANN ARBOR, MI 48104 USA SN 2379-3708 J9 JCI INSIGHT JI JCI Insight PD FEB 9 PY 2017 VL 2 IS 3 AR e89780 DI 10.1172/jci.insight.89780 PG 15 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EK1TN UT WOS:000393708800008 PM 28194438 ER PT J AU Iyer, MR Cinar, R Katz, A Gao, M Erdelyi, K Jourdan, T Coffey, NJ Pacher, P Kunos, G AF Iyer, Malliga R. Cinar, Resat Katz, Alexis Gao, Michael Erdelyi, Katalin Jourdan, Tony Coffey, Nathan J. Pacher, Pal Kunos, George TI Design, Synthesis, and Biological Evaluation of Novel, Non-Brain-Penetrant, Hybrid Cannabinoid CB1R Inverse Agonist/Inducible Nitric Oxide Synthase (iNOS) Inhibitors for the Treatment of Liver Fibrosis SO JOURNAL OF MEDICINAL CHEMISTRY LA English DT Article ID RECEPTOR ANTAGONISTS; DRUG DISCOVERY; RIMONABANT; OBESITY; FUTURE; POTENT; DERIVATIVES; RESISTANCE; BLOCKERS; SYSTEM AB We report the design, synthesis, and structure-activity relationships of novel dual-target compounds with antagonist/inverse agonist activity at cannabinoid receptor type 1 (CB1R) and inhibitory effect on inducible nitric oxide synthase (iNOS). A series of 3,4-diarylpyrazolinecarboximidamides were synthesized and evaluated in CB1 receptor (CB1R) binding assays and iNOS activity assays. The novel compounds, designed to have limited brain penetrance, elicited potent in vitro CB1R antagonist activities and iNOS inhibitory activities. Some key compounds displayed high CB1R binding affinities. Compound 7 demonstrated potent in vivo pharmacological activities such as reduction of food intake mediated by the antagonism of the CB(1)Rs and antifibrotic effect in the animal models of fibrosis mediated by iNOS inhibition and CB1R antagonism. C1 [Iyer, Malliga R.; Cinar, Resat; Katz, Alexis; Gao, Michael; Jourdan, Tony; Coffey, Nathan J.; Kunos, George] NIAAA, Lab Physiol Studies, NIH, 5625 Fishers Lane, Rockville, MD 20852 USA. [Erdelyi, Katalin; Pacher, Pal] NIAAA, Lab Cardiovasc Physiol & Tissue Injury, NIH, 5625 Fishers Lane, Rockville, MD 20852 USA. RP Iyer, MR; Kunos, G (reprint author), NIAAA, Lab Physiol Studies, NIH, 5625 Fishers Lane, Rockville, MD 20852 USA. EM Malliga.Iyer@nih.gov; George.Kunos@nih.gov OI CINAR, RESAT/0000-0002-8597-7253 FU National Institute on Alcohol Abuse and Alcoholism (NIAAA) FX This work was supported by intramural funds from the National Institute on Alcohol Abuse and Alcoholism (NIAAA) to M.R.I, RC, P.P., and G.K. Resources from National Institute on Drug Abuse (NIDA) is gratefully acknowledged. Helpful advice and suggestions from Dr. Kenner C. Rice are acknowledged. John Lloyd, Noel Whittaker, and Bill Leister are acknowledged for supplying MS data and providing help with LC/MS data. NR 38 TC 0 Z9 0 U1 3 U2 3 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 0022-2623 EI 1520-4804 J9 J MED CHEM JI J. Med. Chem. PD FEB 9 PY 2017 VL 60 IS 3 BP 1126 EP 1141 DI 10.1021/acs.jmedchem.6b01504 PG 16 WC Chemistry, Medicinal SC Pharmacology & Pharmacy GA EK4WM UT WOS:000393928300018 PM 28085283 ER PT J AU Marouli, E Graff, M Medina-Gomez, C Lo, KS Wood, AR Kjaer, TR Fine, RS Lu, YC Schurmann, C Highland, HM Rueger, S Thorleifsson, G Justice, AE Lamparter, D Stirrups, KE Turcot, V Young, KL Winkler, TW Esko, T Karaderi, T Locke, AE Masca, NGD Ng, MCY Mudgal, P Rivas, MA Vedantam, S Mahajan, A Guo, XQ Abecasis, G Aben, KK Adair, LS Alam, DS Albrecht, E Allin, KH Allison, M Amouyel, P Appel, EV Arveiler, D Asselbergs, FW Auer, PL Balkau, B Banas, B Bang, LE Benn, M Bergmann, S Bielak, LF Bluher, M Boeing, H Boerwinkle, E Boger, CA Bonnycastle, LL Bork-Jensen, J Bots, ML Bottinger, EP Bowden, DW Brandslund, I Breen, G Brilliant, MH Broer, L Burt, AA Butterworth, AS Carey, DJ Caulfield, MJ Chambers, JC Chasman, DI Chen, YDI Chowdhury, R Christensen, C Chu, AY Cocca, M Collins, FS Cook, JP Corley, J Galbany, JC Cox, AJ Cuellar-Partida, G Danesh, J Davies, G de Bakker, PIW de Borst, GJ de Denus, S de Groot, MCH de Mutsert, R Deary, IJ Dedoussis, G Demerath, EW den Hollander, AI Dennis, JG Di Angelantonio, E Drenos, F Du, MM Dunning, AM Easton, DF Ebeling, T Edwards, TL Ellinor, PT Elliott, P Evangelou, E Farmaki, AE Faul, JD Feitosa, MF Feng, S Ferrannini, E Ferrario, MM Ferrieres, J Florez, JC Ford, I Fornage, M Franks, PW Frikke-Schmidt, R Galesloot, TE Gan, W Gandin, I Gasparini, P Giedraitis, V Giri, A Girotto, G Gordon, SD Gordon-Larsen, P Gorski, M Grarup, N Grove, ML Gudnason, V Gustafsson, S Hansen, T Harris, KM Harris, TB Hattersley, AT Hayward, C He, L Heid, IM Heikkila, K Helgeland, O Hernesniemi, J Hewitt, AW Hocking, LJ Hollensted, M Holmen, OL Hovingh, GK Howson, JMM Hoyng, CB Huang, PL Hveem, K Ikram, MA Ingelsson, E Jackson, AU Jansson, JH Jarvik, GP Jensen, GB Jhun, MA Jia, YC Jiang, XJ Johansson, S Jorgensen, ME Jorgensen, T Jousilahti, P Jukema, JW Kahali, B Kahn, RS Kahonen, M Kamstrup, PR Kanoni, S Kaprio, J Karaleftheri, M Kardia, SLR Karpe, F Kee, F Keeman, R Kiemeney, LA Kitajima, H Kluivers, KB Kocher, T Komulainen, P Kontto, J Kooner, JS Kooperberg, C Kovacs, P Kriebel, J Kuivaniemi, H Kury, S Kuusisto, J La Bianca, M Laakso, M Lakka, TA Lange, EM Lange, LA Langefeld, CD Langenberg, C Larson, EB Lee, IT Lehtimaki, T Lewis, CE Li, HX Li, J Li-Gao, R Lin, HH Lin, LA Lin, X Lind, L Lindstrom, J Linneberg, A Liu, YH Liu, YM Lophatananon, A Luan, J Lubitz, SA Lyytikainen, LP Mackey, DA Madden, PAF Manning, AK Mannisto, S Marenne, G Marten, J Martin, NG Mazul, AL Meidtner, K Metspalu, A Mitchell, P Mohlke, KL Mook-Kanamori, DO Morgan, A Morris, AD Morris, AP Muller-Nurasyid, M Munroe, PB Nalls, MA Nauck, M Nelson, CP Nelson, CP Neville, M Nielsen, SF Nikus, K Njolstad, PR Nordestgaard, BG Ntalla, I O'Connel, JR Oksa, H Loohuis, LMO Ophoff, RA Owen, KR Packard, CJ Padmanabhan, S Palmer, CNA Pasterkamp, G Patel, AP Pattie, A Pedersen, O Peissig, PL Peloso, GM Pennell, CE Perola, M Perry, JA Perry, JRB Person, TN Pirie, A Polasek, O Posthuma, D Raitakari, OT Rasheed, A Rauramaa, R Reilly, DF Reiner, AP Renstrom, F Ridker, PM Rioux, JD Robertson, N Robino, A Rolandsson, O Rudan, I Ruth, KS Saleheen, D Salomaa, V Samani, NJ Sandow, K Sapkota, Y Sattar, N Schmidt, MK Schreiner, PJ Schulze, MB Scott, RA Segura-Lepe, MP Shah, S Sim, XL Sivapalaratnam, S Small, KS Smith, AV Smith, JA Southam, L Spector, TD Speliotes, EK Starr, JM Steinthorsdottir, V Stringham, HM Stumvoll, M Surendran, P 't Hart, LM Tansey, KE Tardif, JC Taylor, KD Teumer, A Thompson, DJ Thorsteinsdottir, U Thuesen, BH Tonjes, A Tromp, G Trompet, S Tsafantakis, E Tuomilehto, J Tybjaerg-Hansen, A Tyrer, JP Uher, R Uitterlinden, AG Ulivi, S van der Laan, SW Van Der Leij, AR van Duijn, CM van Schoor, NM van Setten, J Varbo, A Varga, TV Varma, R Edwards, DRV Vermeulen, SH Vestergaard, H Vitart, V Vogt, TF Vozzi, D Walker, M Wang, FJ Wang, CA Wang, S Wang, YQ Wareham, NJ Warren, HR Wessel, J Willems, SM Wilson, JG Witte, DR Woods, MO Wu, Y Yaghootkar, H Yao, J Yao, P Yerges-Armstrong, LM Young, R Zeggini, E Zhan, XW Zhang, WH Zhao, JH Zhao, W Zhao, W Zheng, H Zhou, W Rotter, JI Boehnke, M Kathiresan, S McCarthy, MI Willer, CJ Stefansson, K Borecki, IB Liu, DJ North, KE Heard-Costa, NL Pers, TH Lindgren, CM Oxvig, C Kutalik, Z Rivadeneira, F Loos, RJF Frayling, TM Hirschhorn, JN Deloukas, P Lettre, G AF Marouli, Eirini Graff, Mariaelisa Medina-Gomez, Carolina Lo, Ken Sin Wood, Andrew R. Kjaer, Troels R. Fine, Rebecca S. Lu, Yingchang Schurmann, Claudia Highland, Heather M. Rueger, Sina Thorleifsson, Gudmar Justice, Anne E. Lamparter, David Stirrups, Kathleen E. Turcot, Valerie Young, Kristin L. Winkler, Thomas W. Esko, Tonu Karaderi, Tugce Locke, Adam E. Masca, Nicholas G. D. Ng, Maggie C. Y. Mudgal, Poorva Rivas, Manuel A. Vedantam, Sailaja Mahajan, Anubha Guo, Xiuqing Abecasis, Goncalo Aben, Katja K. Adair, Linda S. Alam, Dewan S. Albrecht, Eva Allin, Kristine H. Allison, Matthew Amouyel, Philippe Appel, Emil V. Arveiler, Dominique Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Banas, Bernhard Bang, Lia E. Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Blueher, Matthias Boeing, Heiner Boerwinkle, Eric Boeger, Carsten A. Bonnycastle, Lori L. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Burt, Amber A. Butterworth, Adam S. Carey, David J. Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der Ida Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Cuellar-Partida, Gabriel Danesh, John Davies, Gail de Bakker, Paul I. W. de Borst, Gert J. de Denus, Simon de Groot, Mark C. H. de Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. den Hollander, Anneke I. Dennis, Joe G. Di Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dunning, Alison M. Easton, Douglas F. Ebeling, Tapani Edwards, Todd L. Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Faul, Jessica D. Feitosa, Mary F. Feng, Shuang Ferrannini, Ele Ferrario, Marco M. Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franks, Paul W. Frikke-Schmidt, Ruth Galesloot, Tessel E. Gan, Wei Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Giri, Ayush Girotto, Giorgia Gordon, Scott D. Gordon-Larsen, Penny Gorski, Mathias Grarup, Niels Grove, Megan L. Gudnason, Vilmundur Gustafsson, Stefan Hansen, Torben Harris, Kathleen Mullan Harris, Tamara B. Hattersley, Andrew T. Hayward, Caroline He, Liang Heid, Iris M. Heikkila, Kauko Helgeland, Oyvind Hernesniemi, Jussi Hewitt, Alex W. Hocking, Lynne J. Hollensted, Mette Holmen, Oddgeir L. Hovingh, G. Kees Howson, Joanna M. M. Hoyng, Carel B. Huang, Paul L. Hveem, Kristian Ikram, M. Arfan Ingelsson, Erik Jackson, Anne U. Jansson, Jan-Hakan Jarvik, Gail P. Jensen, Gorm B. Jhun, Min A. Jia, Yucheng Jiang, Xuejuan Johansson, Stefan Jorgensen, Marit E. Jorgensen, Torben Jousilahti, Pekka Jukema, J. Wouter Kahali, Bratati Kahn, Rene S. Kahonen, Mika Kamstrup, Pia R. Kanoni, Stavroula Kaprio, Jaakko Karaleftheri, Maria Kardia, Sharon L. R. Karpe, Fredrik Kee, Frank Keeman, Renske Kiemeney, Lambertus A. Kitajima, Hidetoshi Kluivers, Kirsten B. Kocher, Thomas Komulainen, Pirjo Kontto, Jukka Kooner, Jaspal S. Kooperberg, Charles Kovacs, Peter Kriebel, Jennifer Kuivaniemi, Helena Kury, Sebastien Kuusisto, Johanna La Bianca, Martina Laakso, Markku Lakka, Timo A. Lange, Ethan M. Lange, Leslie A. Langefeld, Carl D. Langenberg, Claudia Larson, Eric B. Lee, I-Te Lehtimaki, Terho Lewis, Cora E. Li, Huaixing Li, Jin Li-Gao, Ruifang Lin, Honghuang Lin, Li-An Lin, Xu Lind, Lars Lindstrom, Jaana Linneberg, Allan Liu, Yeheng Liu, Yongmei Lophatananon, Artitaya Luan, Jian'an Lubitz, Steven A. Lyytikainen, Leo-Pekka Mackey, David A. Madden, Pamela A. F. Manning, Alisa K. Mannisto, Satu Marenne, Gaelle Marten, Jonathan Martin, Nicholas G. Mazul, Angela L. Meidtner, Karina Metspalu, Andres Mitchell, Paul Mohlke, Karen L. Mook-Kanamori, Dennis O. Morgan, Anna Morris, Andrew D. Morris, Andrew P. Mueller-Nurasyid, Martina Munroe, Patricia B. Nalls, Mike A. Nauck, Matthias Nelson, Christopher P. Nelson, Christopher P. Neville, Matt Nielsen, Sune F. Nikus, Kjell Njolstad, Pal R. Nordestgaard, Borge G. Ntalla, Ioanna O'Connel, Jeffrey R. Oksa, Heikki Loohuis, Loes M. Olde Ophoff, Roel A. Owen, Katharine R. Packard, Chris J. Padmanabhan, Sandosh Palmer, Colin N. A. Pasterkamp, Gerard Patel, Aniruddh P. Pattie, Alison Pedersen, Oluf Peissig, Peggy L. Peloso, Gina M. Pennell, Craig E. Perola, Markus Perry, James A. Perry, John R. B. Person, Thomas N. Pirie, Ailith Polasek, Ozren Posthuma, Danielle Raitakari, Olli T. Rasheed, Asif Rauramaa, Rainer Reilly, Dermot F. Reiner, Alex P. Renstrom, Frida Ridker, Paul M. Rioux, John D. Robertson, Neil Robino, Antonietta Rolandsson, Olov Rudan, Igor Ruth, Katherine S. Saleheen, Danish Salomaa, Veikko Samani, Nilesh J. Sandow, Kevin Sapkota, Yadav Sattar, Naveed Schmidt, Marjanka K. Schreiner, Pamela J. Schulze, Matthias B. Scott, Robert A. Segura-Lepe, Marcelo P. Shah, Svati Sim, Xueling Sivapalaratnam, Suthesh Small, Kerrin S. Smith, Albert Vernon Smith, Jennifer A. Southam, Lorraine Spector, Timothy D. Speliotes, Elizabeth K. Starr, John M. Steinthorsdottir, Valgerdur Stringham, Heather M. Stumvoll, Michael Surendran, Praveen 't Hart, Leen M. Tansey, Katherine E. Tardif, Jean-Claude Taylor, Kent D. Teumer, Alexander Thompson, Deborah J. Thorsteinsdottir, Unnur Thuesen, Betina H. Toenjes, Anke Tromp, Gerard Trompet, Stella Tsafantakis, Emmanouil Tuomilehto, Jaakko Tybjaerg-Hansen, Anne Tyrer, Jonathan P. Uher, Rudolf Uitterlinden, Andre G. Ulivi, Sheila van der Laan, Sander W. Van Der Leij, Andries R. van Duijn, Cornelia M. van Schoor, Natasja M. van Setten, Jessica Varbo, Anette Varga, Tibor V. Varma, Rohit Edwards, Digna R. Velez Vermeulen, Sita H. Vestergaard, Henrik Vitart, Veronique Vogt, Thomas F. Vozzi, Diego Walker, Mark Wang, Feijie Wang, Carol A. Wang, Shuai Wang, Yiqin Wareham, Nicholas J. Warren, Helen R. Wessel, Jennifer Willems, Sara M. Wilson, James G. Witte, Daniel R. Woods, Michael O. Wu, Ying Yaghootkar, Hanieh Yao, Jie Yao, Pang Yerges-Armstrong, Laura M. Young, Robin Zeggini, Eleftheria Zhan, Xiaowei Zhang, Weihua Zhao, Jing Hua Zhao, Wei Zhao, Wei Zheng, He Zhou, Wei Rotter, Jerome I. Boehnke, Michael Kathiresan, Sekar McCarthy, Mark I. Willer, Cristen J. Stefansson, Kari Borecki, Ingrid B. Liu, Dajiang J. North, Kari E. Heard-Costa, Nancy L. Pers, Tune H. Lindgren, Cecilia M. Oxvig, Claus Kutalik, Zoltan Rivadeneira, Fernando Loos, Ruth J. F. Frayling, Timothy M. Hirschhorn, Joel N. Deloukas, Panos Lettre, Guillaume CA EPIC-InterAct Consortium EPIC-CVD Consortium CHD Exome Consortium ExomeBP Consortium T2D-Genes Consortium GoT2D Genes Consortium Global Lipids Genetics Consortium ReproGen Consortium MAGIC Investigators TI Rare and low-frequency coding variants alter human adult height SO NATURE LA English DT Article ID GENOME-WIDE ASSOCIATION; MISSING HERITABILITY; GENETIC ARCHITECTURE; INTERLEUKIN-11; MUTATIONS; MICE AB Height is a highly heritable, classic polygenic trait with approximately 700 common associated variants identified through genome-wide association studies so far. Here, we report 83 height-associated coding variants with lower minor-allele frequencies (in the range of 0.1-4.8%) and effects of up to 2 centimetres per allele (such as those in IHH, STC2, AR and CRISPLD2), greater than ten times the average effect of common variants. In functional follow-up studies, rare height increasing alleles of STC2 (giving an increase of 1-2 centimetres per allele) compromised proteolytic inhibition of PAPP-A and increased cleavage of IGFBP-4 in vitro, resulting in higher bioavailability of insulin-like growth factors. These 83 height-associated variants overlap genes that are mutated in monogenic growth disorders and highlight new biological candidates (such as ADAMTS3, IL11RA and NOX4) and pathways (such as proteoglycan and glycosaminoglycan synthesis) involved in growth. Our results demonstrate that sufficiently large sample sizes can uncover rare and low-frequency variants of moderate-to-large effect associated with polygenic human phenotypes, and that these variants implicate relevant genes and pathways. 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[Butterworth, Adam S.; Chowdhury, Rajiv; Danesh, John; Di Angelantonio, Emanuele; Howson, Joanna M. M.; Surendran, Praveen; Young, Robin] Univ Cambridge, Dept Publ Hlth & Primary Care, MRC BHF Cardiovasc Epidemiol Unit, Cambridge CB1 8RN, England. [Butterworth, Adam S.; Danesh, John; Di Angelantonio, Emanuele] Univ Cambridge, NIHR Blood & Transplant Res Unit Donor Hlth Genom, Cambridge CB1 8RN, England. [Carey, David J.; Kuivaniemi, Helena; Tromp, Gerard] Sigfried & Janet Weis Ctr Res, Danville, PA 17822 USA. [Caulfield, Mark J.; Munroe, Patricia B.; Warren, Helen R.] Queen Mary Univ, Barts & London Sch Med & Dent, NIHR Barts Cardiovasc Res Unit, London EC1M 6BQ, England. [Chambers, John C.; Kooner, Jaspal S.; Zhang, Weihua] London North West Healthcare NHS Trust, Ealing Hosp, Dept Cardiol, Middlesex UB1 3HW, England. [Chambers, John C.; Evangelou, Evangelos; Segura-Lepe, Marcelo P.; Zhang, Weihua] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, Dept Epidemiol & Biostat, London W2 1PG, England. [Chambers, John C.; Kooner, Jaspal S.] Univ London Imperial Coll Sci Technol & Med, Healthcare NHS Trust, London W12 0HS, England. [Chasman, Daniel I.] Brigham & Womens Hosp, Div Genet, Boston, MA 02115 USA. [Chasman, Daniel I.; Patel, Aniruddh P.; Ridker, Paul M.; Kathiresan, Sekar] Harvard Med Sch, Boston, MA 02115 USA. [Chasman, Daniel I.; Chu, Audrey Y.; Ridker, Paul M.] Brigham & Womens & Harvard Med Sch, Div Prevent Med, Boston, MA 02115 USA. [Christensen, Cramer] Lillebaelt Hosp, Dept Med, DK-7100 Vejle, Denmark. [Chu, Audrey Y.; Heard-Costa, Nancy L.] NHLBI, Framingham Heart Study, Framingham, MA 01702 USA. [Cocca, Massimiliano] Univ Trieste, Dept Med Surg & Hlth Sci, I-34100 Trieste, Italy. [Cook, James P.; Morris, Andrew P.] Univ Liverpool, Dept Biostat, Liverpool L69 3GL, Merseyside, England. [Corley, Janie; Davies, Gail; Deary, Ian J.; Starr, John M.] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9JZ, Midlothian, Scotland. [Corley, Janie; Davies, Gail; Deary, Ian J.; Pattie, Alison] Univ Edinburgh, Dept Psychol, 7 George Sq, Edinburgh EH8 9JZ, Midlothian, Scotland. [Galbany, Jordi Corominas] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands. [Cox, Amanda J.] Griffith Univ, Menzies Hlth Inst Queensland, Southport, Qld, Australia. [Cuellar-Partida, Gabriel] Univ Queensland, Diamantina Inst, Brisbane, Qld 4072, Australia. [Cuellar-Partida, Gabriel; Gordon, Scott D.; Martin, Nicholas G.; Sapkota, Yadav] QIMR Berghofer Med Res Inst, Brisbane, Qld 4006, Australia. [Danesh, John; Marenne, Gaelle; Southam, Lorraine; Zeggini, Eleftheria] Wellcome Trust Sanger Inst, Wellcome Genome Campus, Cambridge CB10 1SA, England. [Danesh, John] Univ Cambridge, Dept Med, Cambridge Escellence, British Heart Fdn, Cambridge CB2 0QQ, England. [de Bakker, Paul I. W.] Univ Med Ctr Utrecht, Ctr Mol Med, Dept Genet, NL-3584 CX Utrecht, Netherlands. [de Borst, Gert J.] Univ Med Ctr Utrecht, Dept Vasc Surg, Div Surg Specialties, NL-3584 CX Utrecht, Netherlands. [de Denus, Simon] Univ Montreal, Fac Pharm, Montreal, PQ H3T 1J4, Canada. [de Groot, Mark C. H.] Univ Med Ctr Utrecht, Div Lab & Pharm, Dept Clin Chem & Haematol, NL-3508 GA Utrecht, Netherlands. [de Groot, Mark C. H.] Univ Utrecht, Div Pharmacoepidemiol & Clin Pharmacol, Utrecht Inst Pharmaceut Sci, NL-3508 TB Utrecht, Netherlands. [de Mutsert, Renee; Li-Gao, Ruifang; Mook-Kanamori, Dennis O.] Leiden Univ, Med Ctr, Dept Clin Epidemiol, NL-2300 RC Leiden, Netherlands. [Dedoussis, George; Farmaki, Aliki-Eleni] Harokopio Univ, Sch Hlth Sci & Educ, Dept Nutr & Dietet, Athens 17671, Greece. [Demerath, Ellen W.] Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, Minneapolis, MN 55454 USA. [den Hollander, Anneke I.; Hoyng, Carel B.] Radbound Univ Med Ctr, Dept Ophthalmol, NL-6500 HB Nijmegen, Netherlands. [Dennis, Joe G.; Easton, Douglas F.; Thompson, Deborah J.] Univ Cambridge, Dept Publ Hlth & Primary Care, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England. [Drenos, Fotios] UCL, Inst Cardiovasc Sci, London WC1E 6JF, England. [Drenos, Fotios] Univ Bristol, Sch Social & Community Med, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England. [Du, Mengmeng] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. [Du, Mengmeng] Mem Sloan Kettering Canc Ctr, Dept Epidemiol & Biostat, New York, NY 10017 USA. [Dunning, Alison M.; Easton, Douglas F.; Pirie, Ailith; Tyrer, Jonathan P.] Univ Cambridge, Dept Oncol, Ctr Canc Genet Epidemiol, Cambridge CB1 8RN, England. [Ebeling, Tapani] Oulu Univ Hosp, Dept Med, Oulu 90029, Finland. [Ebeling, Tapani] Univ Oulu, Res Unit Internal Med, FI-90014 Oulu, Finland. [Edwards, Todd L.; Giri, Ayush] Vanderbilt Univ, Vanderbilt Genet Inst, Inst Med & Publ Hlth, Dept Med,Div Epidemiol, Nashville, TN 37203 USA. [Ellinor, Patrick T.; Florez, Jose C.; Huang, Paul L.; Lubitz, Steven A.; Manning, Alisa K.; Patel, Aniruddh P.; Peloso, Gina M.; Sivapalaratnam, Suthesh; Kathiresan, Sekar] Massachusetts Gen Hosp, Boston, MA 02114 USA. [Ellinor, Patrick T.; Florez, Jose C.; Lubitz, Steven A.; Manning, Alisa K.; Peloso, Gina M.] Broad Inst, Med & Populat Genet Program, Cambridge, MA 02141 USA. [Elliott, Paul] Univ London Imperial Coll Sci Technol & Med, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, Dept Epidemiol & Biostat, London W2 1PG, England. [Evangelou, Evangelos] Univ Ioannina, Sch Med, Dept Hyg & Epidemiol, GR-45110 Ioannina, Greece. [Faul, Jessica D.] Univ Michigan, Inst Social Res, Survey Res Ctr, Ann Arbor, MI 48104 USA. [Feitosa, Mary F.; Borecki, Ingrid B.] Washington Univ, Sch Med, Dept Genet, Div Stat Genom, St Louis, MO 63108 USA. [Ferrannini, Ele] CNR Inst Clin Physiol, Pisa, Italy. [Ferrannini, Ele] Univ Pisa, Dept Clin & Expt Med, Pisa, Italy. [Ferrario, Marco M.] Univ Insubria, Dept Clin & Expt Med, Res Ctr Epidemiol & Prevent Med, I-21100 Varese, Italy. [Ferrieres, Jean] Toulouse Univ, Sch Med, F-31059 Toulouse, France. [Florez, Jose C.; Manning, Alisa K.] Harvard Univ, Sch Med, Dept Med, Boston, MA 02115 USA. [Ford, Ian; Packard, Chris J.; Padmanabhan, Sandosh; Sattar, Naveed; Young, Robin] Univ Glasgow, Glasgow G12 8QQ, Lanark, Scotland. [Fornage, Myriam; Lin, Li-An] Univ Texas Hlth Sci Ctr Houston, Inst Mol Med, Houston, TX 77030 USA. [Franks, Paul W.; Renstrom, Frida; Varga, Tibor V.] Lund Univ, Dept Clin Sci, Genet & Mol Epidemiol Unit, SE-20502 Malmo, Sweden. [Franks, Paul W.] Harvard Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA. [Franks, Paul W.] Umea Univ, Med Unit, Dept Publ Hlth & Clin Med, S-90187 Umea, Sweden. [Frikke-Schmidt, Ruth; Tybjaerg-Hansen, Anne] Copenhagen Univ Hosp, Rigshosp, Dept Clin Biochem, DK-2100 Copenhagen, Denmark. [Gandin, Ilaria; Gasparini, Paolo; Girotto, Giorgia; Morgan, Anna] Univ Trieste, Dept Med Sci, I-34137 Trieste, Italy. [Gasparini, Paolo; Girotto, Giorgia; Vozzi, Diego] Sidra Med & Res Ctr, Div Expt Genet, Doha 26999, Qatar. [Giedraitis, Vilmantas] Uppsala Univ, Dept Publ Hlth, Geriat, S-75185 Uppsala, Sweden. [Gordon-Larsen, Penny; Harris, Kathleen Mullan] Univ N Carolina, Caroline Populat Ctr, Chapel Hill, NC 27514 USA. [Gordon-Larsen, Penny] Univ N Carolina, Dept Nutr, Gillings Sch Global Publ Hlth, Chapel Hill, NC 27514 USA. [Gudnason, Vilmundur; Smith, Albert Vernon; Thorsteinsdottir, Unnur; Stefansson, Kari] Univ Iceland, Fac Med, IS-101 Reykjavik, Iceland. [Gudnason, Vilmundur; Smith, Albert Vernon] Icelandic Heart Assoc, IS-201 Kopavogur, Iceland. [Gustafsson, Stefan; Ingelsson, Erik] Uppsala Univ, Dept Med Sci, Mol Epidemiol & Sci Life Lab, S-75141 Uppsala, Sweden. [Harris, Kathleen Mullan] Univ N Carolina, Dept Sociol, Chapel Hill, NC 27514 USA. [Harris, Tamara B.] NIA, Lab Epidemiol & Populat Sci, Intramural Res Program, NIH, Bethesda, MD 20892 USA. [Hattersley, Andrew T.] Univ Exeter, Univ Exeter Med Sch, Exeter EX2 5DW, Devon, England. [Hayward, Caroline; Marten, Jonathan; Vitart, Veronique] Univ Edinburgh, Inst Genet & Mol Med, MRCHGU, Edinburgh EH4 2XU, Midlothian, Scotland. [He, Liang] Duke Univ, Social Sci Res Inst, Biodemog Aging Res Unit, Durham, NC 27708 USA. [He, Liang; Heikkila, Kauko; Kaprio, Jaakko] Univ Helsinki, Dept Publ Hlth, FI-00014 Helsinki, Finland. [Dunning, Alison M.; Heikkila, Kauko; Kaprio, Jaakko] Univ Helsinki, Inst Mol Med Finland FIMM, FI-00014 Helsinki, Finland. [Helgeland, Oyvind; Njolstad, Pal R.] Haukeland Hosp, Dept Pediat, N-5021 Bergen, Norway. [Helgeland, Oyvind; Johansson, Stefan; Njolstad, Pal R.] Univ Bergen, Dept Clin Sci, KG Jebson Ctr Diabet Res, N-5020 Bergen, Norway. [Hernesniemi, Jussi] Tampere Univ Hosp, Dept Cardiol, Ctr Heart, FI-33521 Tampere, Finland. [Hernesniemi, Jussi; Lehtimaki, Terho; Lyytikainen, Leo-Pekka] Fimlab Labs, Dept Clin Chem, Tampere 33520, Finland. [Hernesniemi, Jussi; Lehtimaki, Terho; Lyytikainen, Leo-Pekka] Univ Tampere, Sch Med, Dept Clin Chem, Tampere 33014, Finland. [Hewitt, Alex W.] Univ Melbourne, Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Vic 3002, Australia. [Hewitt, Alex W.; Mackey, David A.] Univ Western Australia, Lions Eye Inst, Ctr Ophthalmol & Vis Sci, Perth, WA 6009, Australia. [Hewitt, Alex W.] Univ Tasmania, Menzies Res Inst Tasmania, Hobart, Tas 7000, Australia. [Hocking, Lynne J.] Univ Edinburgh, Ctr Genom & Expt Med, Generat Scotland, Edinburgh EH4 2XU, Midlothian, Scotland. [Hocking, Lynne J.] Univ Aberdeen, Div Appl Med, Musculoskeletal Res Programme, Aberdeen AB25 2ZD, Scotland. [Holmen, Oddgeir L.] Norwegian Univ Sci & Technol, NTNU, Dept Publ Hlth, KG Jebsen Ctr Genet Epidemiol, N-7600 Trondheim, Norway. [Hovingh, G. Kees] AMC, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands. [Hveem, Kristian] Norwegian Univ Sci & Technol, Dept Publ Hlth & Gen Practice, HUNT Res Ctr, N-7600 Levanger, Norway. [Ikram, M. Arfan] Erasmus Sch Ctr, Dept Neurol, NL-3015 GE Rotterdam, Netherlands. [Ikram, M. Arfan] Erasmus Sch Ctr, Dept Radiol, NL-3015 GE Rotterdam, Netherlands. [Ingelsson, Erik] Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Stanford, CA 94305 USA. [Jansson, Jan-Hakan; Rolandsson, Olov] Umea Univ, Dept Publ Hlth & Clin Med, SE-90185 Umea, Sweden. [Jansson, Jan-Hakan] Res Unit Skelleftea, SE-93141 Skelleftea, Sweden. [Jarvik, Gail P.] Univ Washington, Dept Genom Sci, Seattle, WA 98195 USA. [Jensen, Gorm B.] Frederiksberg Univ Hosp, Copenhagen City Heart Study, DK-2000 Frederiksberg, Denmark. [Jiang, Xuejuan] Univ Calif Los Angeles, Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90089 USA. [Jiang, Xuejuan; Varma, Rohit] Univ Southern Calif, Keck Sch Med, Dept Ophthalmol, USC Roski Eye Inst, Los Angeles, CA 90089 USA. [Johansson, Stefan] Haukeland Hosp, Ctr Med Genet & Mol Med, N-5021 Bergen, Norway. [Jorgensen, Marit E.] Univ Southern Denmark, Natl Inst Publ Hlth, DK-1353 Copenhagen, Denmark. [Jorgensen, Marit E.] Steno Diabet Ctr, DK-2820 Gentofte, Denmark. [Jorgensen, Torben] Aalborg Hosp, DK-9000 Aalborg, Denmark. [Jorgensen, Torben; Linneberg, Allan; Thuesen, Betina H.] Capital Reg Denmark, Res Ctr Prevent & Hlth, DK-2600 Glostrup, Denmark. [Jousilahti, Pekka; Kaprio, Jaakko; Kontto, Jukka; Lindstrom, Jaana; Mannisto, Satu; Perola, Markus; Salomaa, Veikko; Tuomilehto, Jaakko] Natl Inst Hlth & Welf, FI-00271 Helsinki, Finland. [Jukema, J. Wouter; Trompet, Stella] Leiden Univ Med Ctr, Dept Cardiol, NL-2333 Leiden, Netherlands. [Jukema, J. Wouter] Interuniv Cardiol Inst Netherlands, NL-2333 Utrecht, Netherlands. [Kahali, Bratati; Speliotes, Elizabeth K.; Zhou, Wei; Willer, Cristen J.] Univ Michigan, Dept Computat Med & Bioinformat, Ann Arbor, MI 48109 USA. [Kahali, Bratati; Speliotes, Elizabeth K.; Zhou, Wei; Willer, Cristen J.] Univ Michigan, Dept Internal Med, Ann Arbor, MI 48109 USA. [Kahali, Bratati; Speliotes, Elizabeth K.] Univ Michigan, Div Gastroenterol, Ann Arbor, MI 48109 USA. [Kahn, Rene S.; Ophoff, Roel A.] Ctr Med Univ Utrecht, Brain Ctr Rudolf Magnus, Dept Psychiat, NL-3584 CG Utrecht, Netherlands. [Kahonen, Mika] Univ Tampere, Sch Med, Dept Clin Physiol, Tampere 33014, Finland. [Karaleftheri, Maria] Echinos Med Ctr, Echinos, Greece. [Karpe, Fredrik; Neville, Matt; Owen, Katharine R.; Robertson, Neil; McCarthy, Mark I.] Univ Oxford, Radcliffe Dept Med, Oxford Ctr Diabetes Endocrinol & Metab, Oxford OX3 7LE, England. [Karpe, Fredrik; Neville, Matt; Owen, Katharine R.; McCarthy, Mark I.] Oxford Univ Hosp Trust, Oxford NIHR Biomed Res Ctr, Oxford OX3 7LE, England. [Kee, Frank] Queens Univ Belfast, UKCRC Ctr Excellence Publ Hlth Res, Belfast BT12 6BJ, Antrim, North Ireland. [Keeman, Renske; Schmidt, Marjanka K.] Netherlands Canc Inst, Antoni van Leewenhoek Hosp, NL-1066 CX Amsterdam, Netherlands. [Kocher, Thomas] Univ Med Greifswald, Dept Restorat Dent Periodontol & Endodontol, D-17475 Greifswald, Germany. [Komulainen, Pirjo; Lakka, Timo A.; Manning, Alisa K.; Rauramaa, Rainer] Kuopio Res Inst Exercise Med, Fdn Res Hlth Exercise & Nutr, Kuopio 70100, Finland. [Kooner, Jaspal S.] Univ London Imperial Coll Sci Technol & Med, Natl Heart & Lung Inst, Hammersmith Hosp Campus, London W12 0NN, England. [Kooperberg, Charles; Reiner, Alex P.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98109 USA. [Kriebel, Jennifer; Meidtner, Karina; Schulze, Matthias B.] German Ctr Diabet Res, D-85764 Munich, Germany. [Kriebel, Jennifer] Helmholtz Zentrum Munchen German Res Ctr Environm, Inst Epidemiol 2, D-85764 Neuherberg, Germany. [Kriebel, Jennifer] Helmholtz Zentrum Munchen German Res Ctr Environm, Res Unit Mol Epidemiol, D-85764 Neuherberg, Germany. [Kuivaniemi, Helena] Univ Stellenbosch, Fac Med & Hlth Sci, Dept Biomed Sci, Dept Psychiat, ZA-7505 Tygerberg, Western Cape, South Africa. [Kuivaniemi, Helena] Univ Stellenbosch, Fac Med & Hlth Sci, Dept Biomed Sci, Div Mol Biol & Human Genet, ZA-7505 Tygerberg, Western Cape, South Africa. [Kury, Sebastien] CHU Nantes, Serv Genet Med, F-44093 Nantes, France. [Kuusisto, Johanna; Laakso, Markku] Univ Eastern Finland, Inst Clin Med, Internal Med, Kuopio 70210, Finland. [Kuusisto, Johanna; Laakso, Markku] Kuopio Univ Hosp, SF-70210 Kuopio, Finland. [La Bianca, Martina; Robino, Antonietta; Ulivi, Sheila] Inst Maternal & Child Hlth IRCCS Burlo Garofolo, I-34137 Trieste, Italy. [Lakka, Timo A.] Univ Eastern Finland, Inst Biomed & Physiol, Kuopio 70210, Finland. [Lange, Ethan M.; Lange, Leslie A.; Mohlke, Karen L.; Wu, Ying] Univ N Carolina, Dept Genet, Chapel Hill, NC 27514 USA. [Langefeld, Carl D.] Wake Forest Sch Med, Dept Biostat Sci, Winston Salem, NC 27157 USA. [Langefeld, Carl D.] Wake Forest Sch Med, Ctr Publ Hlth Genom, Winston Salem, NC 27157 USA. [Langenberg, Claudia; Luan, Jian'an; Perry, John R. B.; Scott, Robert A.; Wareham, Nicholas J.; Willems, Sara M.; Zhao, Jing Hua] Univ Cambridge, Sch Clin Med, Inst Metab Sci, MRC Epidemiol Unit, Cambridge CB2 0QQ, England. [Larson, Eric B.] Grp Hlth Res Inst, Seattle, WA 98101 USA. [Larson, Eric B.] Univ Washington, Dept Hlth Serv, Seattle, WA 98101 USA. [Lee, I-Te] Taichung Vet Gen Hosp, Dept Internal Med, Div Endocrinol & Metab, Taichung 407, Taiwan. [Lee, I-Te] Natl Yang Ming Univ, Sch Med, Taipei 112, Taiwan. [Lee, I-Te] Chung Shan Med Univ, Sch Med, Taichung 402, Taiwan. [Lewis, Cora E.] Univ Alabama Birmingham, Div Prevent Med, Birmingham, AL 35205 USA. [Li, Huaixing; Lin, Xu; Wang, Feijie; Wang, Yiqin; Yao, Pang; Zheng, He] Chinese Acad Sci, Univ Chinese Acad Sci, Shanghai Inst Biol Sci, Inst Nutr Sci,Key Lab Nutr & Metab, Shanghai 200031, Peoples R China. [Li, Jin] Stanford Univ, Sch Med, Div Cardiovasc Med, Dept Med, Palo Alto, CA 94305 USA. [Lin, Honghuang; Teumer, Alexander] Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA. [Lind, Lars] Uppsala Univ, S-75185 Uppsala, Sweden. [Linneberg, Allan] Rigshosp, Dept Expt Med, DK-2200 Copenhagen, Denmark. [Liu, Yongmei] Wake Forest Sch Med, Div Publ Hlth Sci, Winston Salem, NC 27157 USA. [Lophatananon, Artitaya] Warsaw Acad Med & Hosp, Div Hlth Sci, Coventry CV4 7AL, W Midlands, England. [Madden, Pamela A. F.] Washington Univ, Dept Psychiat, St Louis, MO 63110 USA. [Meidtner, Karina; Schulze, Matthias B.] German Inst Human Nutr Potsdam Rehbruecke DIfE, Dept Mol Epidemiol, D-14558 Nuthetal, Germany. [Mitchell, Paul] Univ Sydney, Ctr Vis Res, Westmead Millennium Inst Med Res, Sydney, NSW 2022, Australia. [Mitchell, Paul] Univ Sydney, Dept Ophthalmol, Sydney, NSW 2022, Australia. [Mook-Kanamori, Dennis O.] Leiden Univ, Med Ctr, Dept Publ Hlth & Primary Care, NL-2300 RC Leiden, Netherlands. [Morris, Andrew D.; Polasek, Ozren; Rudan, Igor] Univ Edinburgh, Ctr Global Hlth Res, Ushar Inst Populat Hlth Sci & Informat, Edinburgh EH8 9AG, Midlothian, Scotland. [Mueller-Nurasyid, Martina] Univ Munich, Dept Med 1, D-81377 Munich, Germany. [Mueller-Nurasyid, Martina] DZHK German Ctr Cardiovasc Res, Partner Site Munich Heart Alliance, D-80802 Munich, Germany. [Nalls, Mike A.] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA. [Nauck, Matthias] DZHK German Ctr Cardiovasc Res, Partner Site Greifswald, D-17475 Greifswald, Germany. [Nauck, Matthias] Univ Med Greifswald, Inst Clin Chem, D-17475 Greifswald, Germany. [Nauck, Matthias] Univ Med Greifswald, Lab Med, D-17475 Greifswald, Germany. [Nikus, Kjell] Univ Tampere, Tampere Univ Hosp, Dept Cardiol, Ctr Heart, Tampere 33521, Finland. [Nikus, Kjell] Univ Tampere, Sch Med, Tampere 33521, Finland. [O'Connel, Jeffrey R.; Perry, James A.; Yerges-Armstrong, Laura M.] Univ Maryland, Sch Med, Dept Med, Program Personalized Med, Baltimore, MD 21201 USA. [Oksa, Heikki] Tampere Univ Hosp, Dept Med, Tampere 33521, Finland. [Loohuis, Loes M. Olde; Ophoff, Roel A.] Univ Calif Los Angeles, Ctr Neurobehav Genet, Los Angeles, CA 90095 USA. [Palmer, Colin N. A.] Ninewells Hosp & Med Sch, Med Res Inst, Pat Macpherson Ctr Pharmacogenet & Pharmacogenom, Dundee DD1 9SY, Scotland. [Pasterkamp, Gerard] Univ Med Ctr Utrecht, Div Labs & Pharm, Lab Clin Chem & Hematol, NL-3584 CX Utrecht, Netherlands. [van der Laan, Sander W.] Univ Med Ctr Utrecht, Div Heart & Lungs, Lab Expt Cardiol, NL-3584 CX Utrecht, Netherlands. [Pennell, Craig E.; Wang, Carol A.] Univ Western Australia, Sch Womens & Infants Hlth, Perth, WA 6009, Australia. [Perola, Markus] Univ Helsinki, Inst Mol Med FIMM, FI-00014 Helsinki, Finland. [Perola, Markus] Univ Helsinki, Diabet & Obes Res Program, FI-00014 Helsinki, Finland. [Perola, Markus] Univ Tartu, Estonian Genome Ctr, EE-51010 Tartu, Estonia. [Polasek, Ozren] Univ Split, Sch Med, Split 21000, Croatia. [Posthuma, Danielle] Vrije Univ Amsterdam, Dept Complex Trait Genet, Ctr Neurogenom & Cognit Res, NL-1081 HV Amsterdam, Netherlands. [Posthuma, Danielle] Vrije Univ Amsterdam Med Ctr, Dept Clin Genet, Neurosci Campus Amsterdam, NL-1081 HV Amsterdam, Netherlands. [Raitakari, Olli T.] Turku Univ Hosp, Dept Clin Physiol & Nucl Med, Turku 20521, Finland. [Raitakari, Olli T.] Univ Turku, Res Ctr Appl & Prevent Cardiovasc Med, FIN-20520 Turku, Finland. [Rasheed, Asif; Saleheen, Danish] Ctr Noncommunicable Dis, Karachi, Pakistan. [Rauramaa, Rainer] Kuopio Univ Hosp, Dept Clin Physiol & Nucl Med, SF-70210 Kuopio, Finland. [Reilly, Dermot F.] MRL Merck & Co Inc, Genet & Pharmacogenom, Boston, MA 02115 USA. [Reiner, Alex P.] Univ Washington, Dept Epidemiol, Seattle, WA 98195 USA. [Renstrom, Frida] Umea Univ, Dept Biobank Res, SE-90187 Umea, Sweden. [Ridker, Paul M.] Brigham & Womens Hosp, Div Cardiovasc Med, Boston, MA 02115 USA. [Rioux, John D.; Tardif, Jean-Claude; Lettre, Guillaume] Univ Montreal, Fac Med, Dept Med, Montreal, PQ H3T 1J4, Canada. [Rolandsson, Olov] Umea Univ, Unit Family Med, Dept Publ Hlth & Clin Med, S-90185 Umea, Sweden. [Saleheen, Danish; Zhao, Wei] Univ Penn, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA. [Schreiner, Pamela J.] Univ Minnesota, Div Epidemiol & Community Hlth, Minneapolis, MN 55454 USA. [Shah, Svati] Duke Univ, Durham, NC 27703 USA. [Sim, Xueling] Natl Univ Singapore, Natl Univ Hlth Syst, Saw Swee Hock Sch Publ Hlth, Singapore, Singapore. [Sivapalaratnam, Suthesh] Univ Cambridge, Dept Haematol, Cambridge CB2 0PT, England. [Sivapalaratnam, Suthesh] AMC, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands. [Small, Kerrin S.; Spector, Timothy D.] Kings Coll London, Dept Twin Res & Genet Epidemiol, London SE1 7EH, England. [Starr, John M.] Univ Edinburgh, Alzheimer Scotland Dementia Res Ctr, Edinburgh EH8 9JZ, Midlothian, Scotland. ['t Hart, Leen M.; van Schoor, Natasja M.] Vrije Univ Amsterdam Med Ctr, Dept Epidemiol & Biostat, NL-1007 MB Amsterdam, Netherlands. ['t Hart, Leen M.] Leiden Univ, Med Ctr, Dept Mol & Cell Biol, NL-2333 ZC Leiden, Netherlands. ['t Hart, Leen M.] Leiden Univ, Med Ctr, Dept Mol Epidemiol, NL-2333 ZC Leiden, Netherlands. [Tansey, Katherine E.] Cardiff Univ, Coll Biomed & Life Sci, Cardiff CF14 4EP, S Glam, Wales. [Tansey, Katherine E.] Univ Bristol, Dept Social & Community Med, MRC Integrat Epidemiol Unit, Bristol BS8 2BN, Avon, England. [Teumer, Alexander] Univ Med Greifswald, Inst Community Med, D-17475 Greifswald, Germany. [Toenjes, Anke] Univ Leipzig, Dept Womens & Child Hlth, Ctr Pediat Res, D-04103 Leipzig, Germany. [Tromp, Gerard] Univ Stellenbosch, Fac Med & Hlth Sci, Dept Biomed Sci, Div Human Genet & Mol Biol, ZA-7505 Tygerberg, Western Cape, South Africa. [Trompet, Stella] Leiden Univ, Med Ctr, Dept Gerontol & Geriatr, NL-2333 Leiden, Netherlands. [Tsafantakis, Emmanouil] Anogia Med Ctr, Anogia, Greece. [Tuomilehto, Jaakko] Danube Univ Krems, Ctr Vasc Prevent, A-3500 Krems, Austria. [Tuomilehto, Jaakko] Dasman Diabet Inst, Dasman 15462, Kuwait. [Tuomilehto, Jaakko] King Abdulaziz Univ, Diabet Res Grp, Jeddah 21589, Saudi Arabia. [Uher, Rudolf] Dalhousie Univ, Dept Psychiat, Halifax, NS B3H 4R2, Canada. [Van Der Leij, Andries R.] Univ Amsterdam, Dept Brain & Cognit, NL-1018 WS Amsterdam, Netherlands. [Edwards, Digna R. Velez] Vanderbilt Univ, Vanderbilt Genet Inst, Inst Med & Publ Hlth, Dept Obstet & Gynecol, Nashville, TN 37203 USA. [Vogt, Thomas F.] MRL Merck Co Inc, Cardiometab Dis, Kenilworth, NJ 07033 USA. [Walker, Mark] Newcastle Univ, Sch Med, Inst Cellular Med, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England. [Wang, Shuai] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02118 USA. [Wessel, Jennifer] Indiana Univ, Fairbanks Sch Publ Hlth, Diabet Translat Res Ctr, Dept Epidemiol & Med, Indianapolis, IN 46202 USA. [Wessel, Jennifer] Indiana Univ, Sch Med, Indianapolis, IN 46202 USA. [Wilson, James G.] Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA. [Witte, Daniel R.] Danish Diabet Acad, DK-5000 Odense, Denmark. [Witte, Daniel R.] Aarhus Univ, Dept Publ Hlth, DK-8000 Aarhus, Denmark. [Woods, Michael O.] Mem Univ Newfoundland, Fac Med, Discipline Genet, St John, NF A1B 3V6, Canada. [Yerges-Armstrong, Laura M.] GlaxoSmithKlein, King Of Prussia, PA 19406 USA. [Zhan, Xiaowei] Univ Texas Southwestern Med Ctr Dallas, Quantitat Biomed Res Ctr, Ctr Genet Host Def, Dept Clin Sci, Dallas, TX 75390 USA. [Willer, Cristen J.] Univ Michigan, Dept Human Genet, Ann Arbor, MI 48109 USA. [Liu, Dajiang J.] Penn State Univ, Coll Med, Inst Personalized Med, Dept Publ Hlth Sci, Hershey, PA 17033 USA. [North, Kari E.] Dept Epidemiol, Chapel Hill, NC 27514 USA. [North, Kari E.] Carolina Ctr Genome Sci, Chapel Hill, NC 27514 USA. [Heard-Costa, Nancy L.] Boston Univ, Sch Med, Dept Neurol, Boston, MA 02118 USA. [Pers, Tune H.] Statens Serum Inst, Dept Epidemiol Res, DK-2200 Copenhagen, Denmark. [Lindgren, Cecilia M.] Univ Oxford, Big Data Inst, Li Ka Shing Ctr Hlth Informat & Discovery, Oxford OX3 7BN, England. [Loos, Ruth J. F.] Icahn Sch Med Mt Sinai, Mindich Child Hlth & Dev Inst, New York, NY 10069 USA. [Hirschhorn, Joel N.] Harvard Med Sch, Dept Pediat & Genet, Boston, MA 02115 USA. [Deloukas, Panos] King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah 21589, Saudi Arabia. RP Deloukas, P (reprint author), Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London EC1M 6BQ, England.; Lettre, G (reprint author), Montreal Heart Inst, Montreal, PQ H1T 1C8, Canada.; Hirschhorn, JN (reprint author), Broad Inst MIT & Harvard, Cambridge, MA 02142 USA.; Hirschhorn, JN (reprint author), Boston Childrens Hosp, Div Endocrinol, Boston, MA 02115 USA.; Hirschhorn, JN (reprint author), Boston Childrens Hosp, Ctr Basic & Translat Obes Res, Boston, MA 02115 USA.; Lettre, G (reprint author), Univ Montreal, Fac Med, Dept Med, Montreal, PQ H3T 1J4, Canada.; Hirschhorn, JN (reprint author), Harvard Med Sch, Dept Pediat & Genet, Boston, MA 02115 USA.; Deloukas, P (reprint author), King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah 21589, Saudi Arabia. EM joelh@broadinstitute.org; p.deloukas@qmul.ac.uk; guillaume.lettre@umontreal.ca RI Polasek, Ozren/B-6002-2011; Feitosa, Mary/K-8044-2012; Mackey, David/H-5340-2014; Rioux, John/A-9599-2015; OI Ewing, Ailith/0000-0002-2272-1277; Bergmann, Sven/0000-0002-6785-9034; Linneberg, Allan/0000-0002-0994-0184; Polasek, Ozren/0000-0002-5765-1862; Feitosa, Mary/0000-0002-0933-2410; Mackey, David/0000-0001-7914-4709; Smith, Jennifer/0000-0002-3575-5468; Rioux, John/0000-0001-7560-8326; Jorgensen, Torben/0000-0001-9453-2830; Small, Kerrin/0000-0003-4566-0005; Medina-Gomez, Carolina/0000-0001-7999-5538; Varga, Tibor/0000-0002-2383-699X; Kaprio, Jaakko/0000-0002-3716-2455; Evangelou, Evangelos/0000-0002-5488-2999; Kontto, Jukka/0000-0003-3899-9852 FU Doris Duke Charitable Foundation [2014105]; Medical Research Council [G0600237, MC_PC_15018, MR/K006584/1, MR/K026992/1, MR/L01341X/1, MR/L01632X/1]; NCATS NIH HHS [UL1 TR000124, UL1 TR001881]; NCI NIH HHS [P30 CA008748]; NHLBI NIH HHS [HHSN268201100046C, HHSN268201300046C, K23 HL114724, K99 HL130580, N01 HC095159]; NICHD NIH HHS [P2C HD050924]; NIDDK NIH HHS [P30 DK063491, R01 DK075787, R01 DK089256] NR 29 TC 0 Z9 0 U1 11 U2 11 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD FEB 9 PY 2017 VL 542 IS 7640 BP 186 EP 190 DI 10.1038/nature21039 PG 5 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK2DJ UT WOS:000393737500031 PM 28146470 ER PT J AU Wang, YJ Patel, BA Anreddy, N Zhang, YK Zhang, GN Alqahtani, S Singh, S Shukla, S Kaddoumi, A Ambudkar, SV Talele, TT Chen, ZS AF Wang, Yi-Jun Patel, Bhargav A. Anreddy, Nagaraju Zhang, Yun-Kai Zhang, Guan-Nan Alqahtani, Saeed Singh, Satyakam Shukla, Suneet Kaddoumi, Amal Ambudkar, Suresh V. Talele, Tanaji T. Chen, Zhe-Sheng TI Thiazole-valine peptidomimetic (TTT-28) antagonizes multidrug resistance in vitro and in vivo by selectively inhibiting the efflux activity of ABCB1 SO SCIENTIFIC REPORTS LA English DT Article ID DRUG-RESISTANCE; P-GLYCOPROTEIN; HEART-FAILURE; CANCER-CELLS; TRANSPORTERS; PACLITAXEL; PROTEIN; ABCG2; POLYMORPHISMS; DOXORUBICIN AB Multidrug resistance (MDR) attenuates the chemotherapy efficacy and increases the probability of cancer recurrence. The accelerated drug efflux mediated by ATP-binding cassette (ABC) transporters is one of the major MDR mechanisms. This study investigated if TTT-28, a newly synthesized thiazolevaline peptidomimetic, could reverse ABCB1-mediated MDR in vitro and in vivo. TTT-28 reversed the ABCB1-mediated MDR and increased the accumulation of [H-3]-paclitaxel in ABCB1 overexpressing cells by selectively blocking the efflux function of ABCB1, but not interfering with the expression level and localization of ABCB1. Animal study revealed that TTT-28 enhanced the intratumoral concentration of paclitaxel and promoted apoptosis, thereby potently inhibiting the growth of ABCB1 overexpressing tumors. But TTT-28 did not induce the toxicity (cardiotoxicity/myelosuppression) of paclitaxel in mice. In this study, we synthesized and evaluated a novel selective inhibitor of ABCB1 (TTT-28) with high efficacy and low toxicity. The identification and characterization of this new thiazole-valine peptidomimetic will facilitate design and synthesis of a new generation of ABCB1 inhibitors, leading to further research on multidrug resistance and combination chemotherapy. Furthermore, the strategy that co-administer MDR-ABCB1 inhibitor to overcome the resistance of one FDA approved, widely used chemotherapeutic paclitaxel, may be promising direction for the field of adjuvant chemotherapy. C1 [Wang, Yi-Jun; Patel, Bhargav A.; Anreddy, Nagaraju; Zhang, Yun-Kai; Zhang, Guan-Nan; Singh, Satyakam; Talele, Tanaji T.; Chen, Zhe-Sheng] St Johns Univ, Coll Pharm & Hlth Sci, Dept Pharmaceut Sci, Queens, NY 11439 USA. [Alqahtani, Saeed; Kaddoumi, Amal] Univ Louisiana Monroe, Sch Pharm, Dept Basic Pharmaceut Sci, Monroe, LA 71201 USA. [Shukla, Suneet; Ambudkar, Suresh V.] NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bldg 37, Bethesda, MD 20892 USA. RP Chen, ZS (reprint author), St Johns Univ, Coll Pharm & Hlth Sci, Dept Pharmaceut Sci, Queens, NY 11439 USA. EM chenz@stjohns.edu FU NIH [1R15CA143701]; St. John's University Research Seed Grant [579-1110-7002]; Intramural Research Program of the National Institutes of Health, National Cancer Institute, Center for Cancer Research FX This work was supported by funds from NIH (No. 1R15CA143701) and St. John's University Research Seed Grant (No. 579-1110-7002) to Z.S. Chen. SS and SVA were supported by the Intramural Research Program of the National Institutes of Health, National Cancer Institute, Center for Cancer Research. We thank Drs. Susan E. Bates and Robert W. Robey (NCI, NIH, Bethesda, MD) for providing SW620 and SW620/Ad300 cell lines. NR 36 TC 0 Z9 0 U1 6 U2 6 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 9 PY 2017 VL 7 AR 42106 DI 10.1038/srep42106 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK3MY UT WOS:000393831700001 PM 28181548 ER PT J AU McManus, DD Rong, J Huan, TX Lacey, S Tanriverdi, K Munson, PJ Larson, MG Joehanes, R Murthy, V Shah, R Freedman, JE Levy, D AF McManus, David D. Rong, Jian Huan, Tianxiao Lacey, Sean Tanriverdi, Kahraman Munson, Peter J. Larson, Martin G. Joehanes, Roby Murthy, Venkatesh Shah, Ravi Freedman, Jane E. Levy, Daniel TI Messenger RNA and MicroRNA transcriptomic signatures of cardiometabolic risk factors SO BMC GENOMICS LA English DT Article DE Cardiovascular disease risk factors; Epidemiology; Circulation; mRNA; microRNA ID VASCULAR SMOOTH-MUSCLE; CORONARY-HEART-DISEASE; METABOLIC SYNDROME; CARDIOVASCULAR-DISEASE; GENE-EXPRESSION; ASSOCIATION; HYPERTENSION; CELLS; POLYMORPHISMS; VARIANTS AB Background: Cardiometabolic (CM) risk factors are heritable and cluster in individuals. We hypothesized that CM risk factors are associated with multiple shared and unique mRNA and microRNA (miRNA) signatures. We examined associations of mRNA and miRNA levels with 6 CM traits: body mass index, HDL-cholesterol and triglycerides, fasting glucose, and systolic and diastolic blood pressures through cross-sectional analysis of 2812 Framingham Heart Study who had whole blood collection for RNA isolation for mRNA and miRNA expression studies and who consented to genetic research. We excluded participants taking medication for hypertension, dyslipidemia, or diabetes. We measured mRNA (n = 17,318; using the Affymetrix GeneChip Human Exon 1.0 ST Array) and miRNA (n = 315; using qRT-PCR) expression in whole blood. We used linear regression for mRNA analyses and a combination of linear and logistic regression for miRNA analyses. We conducted miRNA-mRNA coexpression and gene ontology enrichment analyses to explore relations between pleiotropic miRNAs, mRNA expression, and CM trait clustering. Results: We identified hundreds of significant associations between mRNAs, miRNAs, and individual CM traits. Four mRNAs (FAM13A, CSF2RB, HIST1H2AC, WNK1) were associated with all 6 CM traits (FDR < 0.001) and four miRNAs (miR-197-3p, miR-328, miR-505-5p, miR-145-5p) were associated with four CM traits (FDR < 0.05). Twelve mRNAs, including WNK1, that were coexpressed with the four most pleiotropic miRNAs, were also miRNA targets. mRNAs coexpressed with pleiotropic miRNAs were enriched for RNA metabolism (miR-505-5p), ubiquitin-dependent protein catabolism (miR-197-3p, miR-328) and chromatin assembly (miR-328). Conclusions: We identified mRNA and miRNA signatures of individual CM traits and their clustering. Implicated transcripts may play causal roles in CM risk or be downstream consequences of CM risk factors on the transcriptome. Studies are needed to establish whether or not pleiotropic circulating transcripts illuminate causal pathways for CM risk. C1 [McManus, David D.; Freedman, Jane E.] Univ Massachusetts, Sch Med, Dept Med, Div Cardiol, Worcester, MA 01003 USA. [McManus, David D.; Rong, Jian; Huan, Tianxiao; Lacey, Sean; Larson, Martin G.; Levy, Daniel] NHLBI, Framingham, MA 02215 USA. [McManus, David D.; Rong, Jian; Huan, Tianxiao; Lacey, Sean; Larson, Martin G.; Levy, Daniel] Boston Univ Framingham Heart Study, Framingham, MA 20892 USA. [McManus, David D.] Univ Massachusetts, Sch Med, Dept Quantitat Hlth Sci, Div Epidemiol, Worcester, MA 01605 USA. [Rong, Jian; Lacey, Sean; Larson, Martin G.] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA 02215 USA. [Rong, Jian; Levy, Daniel] Boston Univ, Sch Med, Dept Med, Div Neurol, Boston, MA 02215 USA. [Huan, Tianxiao; Joehanes, Roby; Levy, Daniel] NHLBI, Populat Sci Branch, NIH, Bethesda, MD 20892 USA. [Huan, Tianxiao; Joehanes, Roby; Levy, Daniel] NHLBI, Div Intramural Res, NIH, Bethesda, MD 20892 USA. [Munson, Peter J.; Joehanes, Roby] NIH, Ctr Informat Technol, Mathemat & Stat Comp Lab, Bethesda, MD 20892 USA. [Larson, Martin G.] Boston Univ, Dept Math & Stat, Boston, MA 02215 USA. [Joehanes, Roby] Hebrew SeniorLife, Boston, MA USA. [Joehanes, Roby] Harvard Med Sch, Boston, MA USA. [Murthy, Venkatesh] Univ Michigan, Dept Internal Med, Div Cardiovasc Med, Ann Arbor, MI 48109 USA. [Shah, Ravi] Beth Israel Deaconess Med Ctr, Dept Med, Div Cardiol, Boston, MA USA. [McManus, David D.] 1355 Lake Ave North, Worcester, MA 01655 USA. RP McManus, DD (reprint author), Univ Massachusetts, Sch Med, Dept Med, Div Cardiol, Worcester, MA 01003 USA.; McManus, DD (reprint author), NHLBI, Framingham, MA 02215 USA.; McManus, DD (reprint author), Boston Univ Framingham Heart Study, Framingham, MA 20892 USA.; McManus, DD (reprint author), Univ Massachusetts, Sch Med, Dept Quantitat Hlth Sci, Div Epidemiol, Worcester, MA 01605 USA.; McManus, DD (reprint author), 1355 Lake Ave North, Worcester, MA 01655 USA. EM mcmanusd@ummhc.org FU National Institutes of Health [N01-HC-25195]; Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD; NIH [N01-HC-25195]; Division of Intramural Research, National Heart, Lung, and Blood Institute; Center for Information Technology, National Institutes of Health, Bethesda, MD; National Heart, Lung and Blood Institute of the National Institutes of Health, Bethesda, MA [KL2RR031981, 1R01HL126911-01A1, 1R15HL121761-01A1, 1UH2TR000921-02] FX The Framingham Heart Study is funded by National Institutes of Health contract N01-HC-25195. The laboratory work for this investigation was funded by the Division of Intramural Research, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD and by NIH contract N01-HC-25195. The analytical component of this project was funded by the Division of Intramural Research, National Heart, Lung, and Blood Institute, and the Center for Information Technology, National Institutes of Health, Bethesda, MD. DDM's time was supported by KL2RR031981, 1R01HL126911-01A1, 1R15HL121761-01A1, and 1UH2TR000921-02 from the National Heart, Lung and Blood Institute of the National Institutes of Health, Bethesda, MA. NR 43 TC 0 Z9 0 U1 1 U2 1 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1471-2164 J9 BMC GENOMICS JI BMC Genomics PD FEB 8 PY 2017 VL 18 AR 139 DI 10.1186/s12864-017-3533-9 PG 13 WC Biotechnology & Applied Microbiology; Genetics & Heredity SC Biotechnology & Applied Microbiology; Genetics & Heredity GA EL1MG UT WOS:000394383900002 PM 28178938 ER PT J AU Doulatov, S Vo, LT Macari, ER Wahlster, L Kinney, MA Taylor, AM Barragan, J Gupta, M McGrath, K Lee, HY Humphries, JM DeVine, A Narla, A Alter, BP Beggs, AH Agarwal, S Ebert, BL Gazda, HT Lodish, HF Sieff, CA Schlaeger, TM Zon, LI Daley, GQ AF Doulatov, Sergei Vo, Linda T. Macari, Elizabeth R. Wahlster, Lara Kinney, Melissa A. Taylor, Alison M. Barragan, Jessica Gupta, Manav McGrath, Katherine Lee, Hsiang-Ying Humphries, Jessica M. DeVine, Alex Narla, Anupama Alter, Blanche P. Beggs, Alan H. Agarwal, Suneet Ebert, Benjamin L. Gazda, Hanna T. Lodish, Harvey F. Sieff, Colin A. Schlaeger, Thorsten M. Zon, Leonard I. Daley, George Q. TI Drug discovery for Diamond-Blackfan anemia using reprogrammed hematopoietic progenitors SO SCIENCE TRANSLATIONAL MEDICINE LA English DT Article ID PLURIPOTENT STEM-CELLS; RIBOSOMAL-PROTEIN S19; AUTOPHAGY; GENE; ERYTHROPOIESIS; DYSFUNCTION; PRECURSORS; GENERATION; MUTATIONS; REGULATOR AB Diamond-Blackfan anemia (DBA) is a congenital disorder characterized by the failure of erythroid progenitor differentiation, severely curtailing red blood cell production. Because many DBA patients fail to respond to corticosteroid therapy, there is considerable need for therapeutics for this disorder. Identifying therapeutics for DBA requires circumventing the paucity of primary patient blood stem and progenitor cells. To this end, we adopted a reprogramming strategy to generate expandable hematopoietic progenitor cells from induced pluripotent stem cells (iPSCs) from DBA patients. Reprogrammed DBA progenitors recapitulate defects in erythroid differentiation, which were rescued by gene complementation. Unbiased chemical screens identified SMER28, a small-molecule inducer of autophagy, which enhanced erythropoiesis in a range of in vitro and in vivo models of DBA. SMER28 acted through autophagy factor ATG5 to stimulate erythropoiesis and up-regulate expression of globin genes. These findings present an unbiased drug screen for hematological disease using iPSCs and identify autophagy as a therapeutic pathway in DBA. C1 [Doulatov, Sergei; Vo, Linda T.; Macari, Elizabeth R.; Wahlster, Lara; Kinney, Melissa A.; Taylor, Alison M.; Barragan, Jessica; Gupta, Manav; McGrath, Katherine; Humphries, Jessica M.; DeVine, Alex; Agarwal, Suneet; Schlaeger, Thorsten M.; Zon, Leonard I.; Daley, George Q.] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA. [Doulatov, Sergei; Vo, Linda T.; Macari, Elizabeth R.; Wahlster, Lara; Kinney, Melissa A.; Taylor, Alison M.; Barragan, Jessica; Gupta, Manav; McGrath, Katherine; Humphries, Jessica M.; DeVine, Alex; Agarwal, Suneet; Schlaeger, Thorsten M.; Zon, Leonard I.; Daley, George Q.] Dana Farber Canc Inst, Boston, MA 02115 USA. [Doulatov, Sergei; Vo, Linda T.; Macari, Elizabeth R.; Wahlster, Lara; Kinney, Melissa A.; Taylor, Alison M.; Barragan, Jessica; Gupta, Manav; McGrath, Katherine; Humphries, Jessica M.; DeVine, Alex; Narla, Anupama; Agarwal, Suneet; Sieff, Colin A.; Schlaeger, Thorsten M.; Zon, Leonard I.; Daley, George Q.] Boston Childrens Hosp, Stem Cell Program, Boston, MA 02115 USA. [Taylor, Alison M.; Beggs, Alan H.; Agarwal, Suneet; Ebert, Benjamin L.; Gazda, Hanna T.; Sieff, Colin A.; Zon, Leonard I.; Daley, George Q.] Harvard Med Sch, Boston, MA 02115 USA. [Lee, Hsiang-Ying; Lodish, Harvey F.] Whitehead Inst Biomed Res, Cambridge, MA 02142 USA. [Lee, Hsiang-Ying; Lodish, Harvey F.] MIT, Dept Biol, 77 Massachusetts Ave, Cambridge, MA 02142 USA. [Lee, Hsiang-Ying; Lodish, Harvey F.] MIT, Dept Biol Engn, Cambridge, MA 02142 USA. [Narla, Anupama; Ebert, Benjamin L.] Brigham & Womens Hosp, Boston, MA 02115 USA. [Alter, Blanche P.] NCI, Clin Genet Branch, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Beggs, Alan H.; Gazda, Hanna T.] Boston Childrens Hosp, Div Genet & Genom, Boston, MA 02115 USA. [Beggs, Alan H.; Agarwal, Suneet; Gazda, Hanna T.; Daley, George Q.] Manton Ctr Orphan Dis Res, Boston, MA 02115 USA. [Doulatov, Sergei] Univ Washington, Dept Med, Seattle, WA 98195 USA. RP Zon, LI; Daley, GQ (reprint author), Boston Childrens Hosp, Div Hematol Oncol, Boston, MA 02115 USA.; Zon, LI; Daley, GQ (reprint author), Dana Farber Canc Inst, Boston, MA 02115 USA.; Zon, LI; Daley, GQ (reprint author), Boston Childrens Hosp, Stem Cell Program, Boston, MA 02115 USA.; Zon, LI; Daley, GQ (reprint author), Harvard Med Sch, Boston, MA 02115 USA.; Daley, GQ (reprint author), Manton Ctr Orphan Dis Res, Boston, MA 02115 USA. EM zon@enders.tch.harvard.edu; george.daley@childrens.harvard.edu FU NIH National Institute of Diabetes and Digestive and Kidney Diseases [R24-DK092760, R24-DK49216, U54DK110805]; National Heart, Lung, and Blood Institute (NHLBI) Progenitor Cell Biology Consortium [UO1-HL100001, U01HL134812]; NHLBI [R01HL04880, 1K99HL123484, R00HL123484-03, R01HL107558]; NIH [R24OD017870-01, K02HL111156]; Alex's Lemonade Stand Foundation; Taub Foundation Grants Program for MDS Research; Doris Duke Medical Foundation; Division of Cancer Epidemiology and Genetics, NCI, NIH; Helen Hay Whitney Foundation; NSF Graduate Research Fellowship; NIH NHLBI [1F32HL124948-01]; University of Heidelberg Medical School; Brigham and Women's Hospital; Charles H. Hood Foundation FX This work was supported by grants from the NIH National Institute of Diabetes and Digestive and Kidney Diseases (R24-DK092760, R24-DK49216, and U54DK110805) and National Heart, Lung, and Blood Institute (NHLBI) Progenitor Cell Biology Consortium (UO1-HL100001 and U01HL134812) (NHLBI R01HL04880 and NIH R24OD017870-01); Alex's Lemonade Stand Foundation; The Taub Foundation Grants Program for MDS Research; and the Doris Duke Medical Foundation. This study was funded in part by the intramural research program of the Division of Cancer Epidemiology and Genetics, NCI, NIH (B.P.A.). G.Q.D. is an associate member of the Broad Institute and an investigator of the Howard Hughes Medical Institute and the Manton Center for Orphan Disease Research. S.D. was supported by NHLBI 1K99HL123484, R00HL123484-03, and the Helen Hay Whitney Foundation. H.T.G. was supported by NIH K02HL111156 and NHLBI R01HL107558. L.T.V. was supported by an NSF Graduate Research Fellowship. E.R.M. was supported by NIH NHLBI 1F32HL124948-01. L.W. was supported by a Career Development Award from the University of Heidelberg Medical School. M.A.K. was supported by a T32 hematology training grant from Brigham and Women's Hospital. H.-Y.L. was supported by a postdoctoral fellowship from the Charles H. Hood Foundation. NR 44 TC 1 Z9 1 U1 0 U2 0 PU AMER ASSOC ADVANCEMENT SCIENCE PI WASHINGTON PA 1200 NEW YORK AVE, NW, WASHINGTON, DC 20005 USA SN 1946-6234 EI 1946-6242 J9 SCI TRANSL MED JI Sci. Transl. Med. PD FEB 8 PY 2017 VL 9 IS 376 AR eaah5645 DI 10.1126/scitranslmed.aah5645 PG 11 WC Cell Biology; Medicine, Research & Experimental SC Cell Biology; Research & Experimental Medicine GA EL2LE UT WOS:000394450400002 ER PT J AU Rainwater-Lovett, K Ziemniak, C Watson, D Luzuriaga, K Siberry, G Petru, A Chen, YH Uprety, P McManus, M Ho, YC Lamers, SL Persaud, D AF Rainwater-Lovett, Kaitlin Ziemniak, Carrie Watson, Douglas Luzuriaga, Katherine Siberry, George Petru, Ann Chen, YaHui Uprety, Priyanka McManus, Margaret Ho, Ya-Chi Lamers, Susanna L. Persaud, Deborah TI Paucity of Intact Non-Induced Provirus with Early, Long-Term Antiretroviral Therapy of Perinatal HIV Infection SO PLOS ONE LA English DT Article ID VIRUS TYPE-1 RECOMBINATION; CD4(+) T-CELLS; LATENT RESERVOIR; HIV-1-INFECTED CHILDREN; VIROLOGICAL CONTROL; PERIPHERAL-BLOOD; IMMUNE-RESPONSES; REPLICATION; SUPPRESSION; CURE AB The latent reservoir is a major barrier to HIV eradication. Reservoir size is emerging as an important biomarker to assess the likelihood of HIV remission in the absence of antiretroviral therapy (ART) and may be reduced by earlier initiation of ART that restricts HIV spread into CD4+ T cells. Reservoir size is traditionally measured with a quantitative viral outgrowth assay (QVOA) that induces replication-competent HIV production through in vitro stimulation of resting CD4+ T cells. However, the recent identification of replication-intact, non-induced proviral genomes (NIPG) suggests the QVOA significantly underestimates (by 62-fold) latent reservoir size in chronically-infected adults. Whether formation and persistence of Intact, NIPG is thwarted by early ART initiation and long-term virologic suppression in perinatal infection is unclear. Here, we show that the latent reservoir in 11 early treated, long-term suppressed perinatally infected children and adolescents was not inducible by QVOA and dominated by defective, NIPG. Single genome analysis of 164 NIPG from 232 million cultured resting CD4+ T cells revealed no replication-intact, near-full length sequences. Forty-three (26%) NIPG contained APOBEC3G-mediated hypermutation, 115 (70%) NIPG contained large internal deletions, one NIPG contained nonsense mutations and indels, and 5 (3%) NIPG were assigned as "Not Evaluable" due to multiple failed sequencing attempts that precluded further classification. The lack of replication competent inducible provirus and intact NIPG in this cohort indicate early, long-term ART of perinatal infection leads to marked diminution of replication-competent HIV-1 reservoirs, creating a favorable state towards interventions aimed at virologic remission. C1 [Rainwater-Lovett, Kaitlin; Ziemniak, Carrie; Chen, YaHui; Uprety, Priyanka; Persaud, Deborah] Johns Hopkins Univ, Sch Med, Dept Pediat Infect Dis, Baltimore, MD 21218 USA. [Watson, Douglas] Univ Maryland, Dept Pediat, Baltimore, MD 21201 USA. [Luzuriaga, Katherine; McManus, Margaret] Univ Massachusetts, Sch Med, Program Mol Med, Worcester, MA USA. [Siberry, George] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Maternal & Pediat Infect Dis Branch, Rockville, MD USA. [Petru, Ann] Childrens Hosp & Res Ctr Oakland, Dept Pediat Infect Dis, Oakland, CA USA. [Ho, Ya-Chi] Johns Hopkins Univ, Sch Med, Dept Med Infect Dis, Baltimore, MD USA. [Lamers, Susanna L.] Bioinfoexperts LLC, Thibodaux, LA USA. RP Persaud, D (reprint author), Johns Hopkins Univ, Sch Med, Dept Pediat Infect Dis, Baltimore, MD 21218 USA. EM dpers@jhmi.edu FU NIAID; NICHD [R01 HD080474]; Johns Hopkins Center for AIDS Research [P30 A1094189]; International Maternal Pediatric Adolescent AIDS Clinical Trials (IMPAACT) Network; NIAID [UM1 Al068632, UM1 Al068616, UM1 Al106716]; NICHD; NIMH FX This study was supported by the NIAID and NICHD (R01 HD080474 to DP), the Johns Hopkins Center for AIDS Research (P30 A1094189), and subspecialty laboratory funding to DP from the International Maternal Pediatric Adolescent AIDS Clinical Trials (IMPAACT) Network. Overall support for IMPAACT was provided by NIAID (UM1 Al068632, UM1 Al068616, and UM1 Al106716) with co-funding from NICHD and NIMH. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. The funder provided support in the form of salaries for authors [SL], but did not have any additional role in the study design, data collection and analysis, decision to publish, or preparation of the manuscript. The specific roles of these authors are articulated in the 'author contributions' section. NR 45 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 8 PY 2017 VL 12 IS 2 AR e0170548 DI 10.1371/journal.pone.0170548 PG 15 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK1UY UT WOS:000393712500008 PM 28178277 ER PT J AU Damiano, DL Stanley, CJ Bulea, TC Park, HS AF Damiano, Diane L. Stanley, Christopher J. Bulea, Thomas C. Park, Hyung Soon TI Motor Learning Abilities Are Similar in Hemiplegic Cerebral Palsy Compared to Controls as Assessed by Adaptation to Unilateral Leg-Weighting during Gait: Part I SO FRONTIERS IN HUMAN NEUROSCIENCE LA English DT Article DE asymmetry; aftereffects; cerebellar deficits; brain injury; children ID SPLIT-BELT TREADMILL; LOCOMOTOR ADAPTATION; HUMAN WALKING; REHABILITATION; STROKE; POSTSTROKE; CHILDREN; LIMB AB Introduction: Individuals with cerebral palsy (CP) demonstrate high response variability to motor training insufficiently accounted for by age or severity. We propose here that differences in the inherent ability to learn new motor tasks may explain some of this variability. Damage to motor pathways involving the cerebellum, which may be a direct or indirect effect of the brain injury for many with CP, has been shown to adversely affect the ability to learn new motor tasks and may be a potential explanation. Classic adaptation paradigms that evaluate cerebellar integrity have been utilized to assess adaptation to gait perturbations in adults with stroke, traumatic brain injury and other neurological injuries but not in children with CP. Materials and Methods: A case-control study of 10 participants with and 10 without hemiplegic CP within the age range of 5-20 years was conducted. Mean age of participants in the CP group was slightly but not significantly higher than controls. Step length and swing time adaptation, defined as gradual accommodation to a perturbation, and aftereffects, or maintenance of the accommodation upon removal of the perturbation, to unilateral leg weighing during treadmill gait were quantified to assess group differences in learning. Results: Adaptation and aftereffects were demonstrated in step length across groups with no main effect for group. In CP, the dominant leg had a greater response when either leg was weighted. Swing time accommodated immediately (no adaptation) in the weighted leg only, with the non-dominant leg instead showing a more pronounced response in CP. Discussion: This group of participants with unilateral CP did not demonstrate poorer learning or retention similar to reported results in adult stroke. Deficits, while not found here, may become evident in those with other etiologies or greater severity of CP. Our data further corroborate an observation from the stroke literature that repeated practice of exaggerating the asymmetry (error augmentation), in this case by weighting the more involved or shorter step leg, vs. minimizing it by weighting the less involved or longer step leg (error reduction) may be a useful training strategy to improve step symmetry in unilateral CP. C1 [Damiano, Diane L.; Stanley, Christopher J.; Bulea, Thomas C.] NIH, Funct & Appl Biomech Sect, Bldg 10, Bethesda, MD 20892 USA. [Park, Hyung Soon] Korea Adv Inst Sci & Technol, Dept Mech Engn, Daejeon, South Korea. RP Damiano, DL (reprint author), NIH, Funct & Appl Biomech Sect, Bldg 10, Bethesda, MD 20892 USA. EM damianod@cc.nih.gov FU Intramural Research Program of the NIH Clinical Center FX This work was funded by the Intramural Research Program of the NIH Clinical Center. NR 22 TC 1 Z9 1 U1 6 U2 6 PU FRONTIERS MEDIA SA PI LAUSANNE PA PO BOX 110, EPFL INNOVATION PARK, BUILDING I, LAUSANNE, 1015, SWITZERLAND SN 1662-5161 J9 FRONT HUM NEUROSCI JI Front. Hum. Neurosci. PD FEB 8 PY 2017 VL 11 AR 49 DI 10.3389/fnhum.2017.00049 PG 9 WC Neurosciences; Psychology SC Neurosciences & Neurology; Psychology GA EJ9LF UT WOS:000393546900001 PM 28228720 ER PT J AU Nguyen, TA Cisse, OH Wong, JY Zheng, P Hewitt, D Nowrousian, M Stajich, JE Jedd, G AF Tu Anh Nguyen Cisse, Ousmane H. Wong, Jie Yun Zheng, Peng Hewitt, David Nowrousian, Minou Stajich, Jason E. Jedd, Gregory TI Innovation and constraint leading to complex multicellularity in the Ascomycota SO NATURE COMMUNICATIONS LA English DT Article ID GENOME REVEALS; ANIMAL DEVELOPMENT; SEXUAL DEVELOPMENT; HIGH-THROUGHPUT; EVOLUTION; PROTEIN; PEROXISOMES; DYNEIN; DYNACTIN; DOMAIN AB The advent of complex multicellularity (CM) was a pivotal event in the evolution of animals, plants and fungi. In the fungal Ascomycota, CM is based on hyphal filaments and arose in the Pezizomycotina. The genus Neolecta defines an enigma: phylogenetically placed in a related group containing mostly yeasts, Neolecta nevertheless possesses Pezizomycotina-like CM. Here we sequence the Neolecta irregularis genome and identify CM-associated functions by searching for genes conserved in Neolecta and the Pezizomycotina, which are absent or divergent in budding or fission yeasts. This group of 1,050 genes is enriched for functions related to diverse endomembrane systems and their organization. Remarkably, most show evidence for divergence in both yeasts. Using functional genomics, we identify new genes involved in fungal complexification. Together, these data show that rudimentary multicellularity is deeply rooted in the Ascomycota. Extensive parallel gene divergence during simplification and constraint leading to CM suggest a deterministic process where shared modes of cellular organization select for similarly configured organelle- and transport-related machineries. C1 [Tu Anh Nguyen; Wong, Jie Yun; Zheng, Peng; Jedd, Gregory] Natl Univ Singapore, Temasek Life Sci Lab, Singapore 117604, Singapore. [Tu Anh Nguyen; Wong, Jie Yun; Zheng, Peng; Jedd, Gregory] Natl Univ Singapore, Dept Biol Sci, Singapore 117604, Singapore. [Cisse, Ousmane H.; Stajich, Jason E.] Univ Calif Riverside, Inst Integrat Genome Biol, Dept Plant Pathol & Microbiol, Riverside, CA 92521 USA. [Hewitt, David] Acad Nat Sci Philadelphia, Dept Bot, Philadelphia, PA 19103 USA. [Nowrousian, Minou] Ruhr Univ Bochum, Lehrstuhl Allgemeine & Mol Bot, D-44780 Bochum, Germany. [Cisse, Ousmane H.] Natl Inst Hlth, Dept Crit Care Med, Bethesda, MD 20814 USA. RP Jedd, G (reprint author), Natl Univ Singapore, Temasek Life Sci Lab, Singapore 117604, Singapore.; Jedd, G (reprint author), Natl Univ Singapore, Dept Biol Sci, Singapore 117604, Singapore.; Stajich, JE (reprint author), Univ Calif Riverside, Inst Integrat Genome Biol, Dept Plant Pathol & Microbiol, Riverside, CA 92521 USA. EM jason.stajich@ucr.edu; gregory@tll.org.sg OI Cisse, Ousmane/0000-0002-2990-2185; Stajich, Jason/0000-0002-7591-0020 FU Temasek Life Sciences Laboratory; Singapore Millennium Foundation; A.P. Sloan Foundation; USDA Agriculture Experimental Station at the University of California-Riverside; NIFA Hatch project [CA-R-PPA-5062-H]; German Research Foundation [DFG NO407/5-1]; Department of General and Molecular Botany; Swiss National Science Foundation [151780]; National Institutes of Health [P01 GM068087] FX Research in the Jedd group is funded by the Temasek Life Sciences Laboratory and Singapore Millennium Foundation. J.E.S. was supported by the A.P. Sloan Foundation, USDA Agriculture Experimental Station at the University of California-Riverside and NIFA Hatch project CA-R-PPA-5062-H. M.N. was supported by the German Research Foundation (DFG NO407/5-1) and thanks Ulrich Kuck for his support at the Department of General and Molecular Botany. O.H.C was supported by the Swiss National Science Foundation fellowship grant no. 151780. We thank Zhang Louxin for insightful discussion, Dillon McDonald and Katherine Borkovich for help with Saitoella experiments, Don Pfister, Pete and Kitty Griffith for help with Neolecta fruiting bodies collection, and gratefully acknowledge use of deletion mutants generated by National Institutes of Health Grant P01 GM068087 'Functional Analysis of a Model Filamentous Fungus'. NR 88 TC 0 Z9 0 U1 11 U2 11 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 8 PY 2017 VL 8 AR 14444 DI 10.1038/ncomms14444 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ8EU UT WOS:000393458800001 PM 28176784 ER PT J AU Jin, LL Liu, Y Sun, FY Collins, MT Blackwell, K Woo, AS Reichenberger, EJ Hu, Y AF Jin, Lingling Liu, Yi Sun, Fanyue Collins, Michael T. Blackwell, Keith Woo, Albert S. Reichenberger, Ernst J. Hu, Ying TI Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia SO SCIENTIFIC REPORTS LA English DT Article ID FIBROOSSEOUS LESIONS; MUSCULAR-DYSTROPHY; BONE; GENE; PROTEIN; DIFFERENTIATION; MINERALIZATION; EXPRESSION AB Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p. Cys356Tyr), while one Chinese family with two affected members suffered from cementoma and purulent osteomyelitis (p. Cys360Tyr). In addition, two different novel mutations (p. Gly518Glu and p. Arg215Gly) were identified in sporadic patients without family history. In vitro studies overexpressing GDD mutations (p. Cys356Tyr and p. Cys360Tyr) showed significantly reduced ANO5 protein. It appears that all GDD mutations known so far locate in an extracellular domain following the first transmembrane domain or in the 4th putative transmembrane domain. Both wildtype and mutant ANO5 protein localize to the endoplasmic reticulum. After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors we saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. Our data suggest that ANO5 plays a role in osteoblast differentiation. C1 [Jin, Lingling; Hu, Ying] Capital Med Univ, Beijing Stomatol Hosp, Beijing Inst Dent Res, Beijing, Peoples R China. [Liu, Yi] Capital Med Univ, Beijing Stomatol Hosp, Dept Maxillofacial Surg, Beijing, Peoples R China. [Sun, Fanyue; Reichenberger, Ernst J.] Univ Connecticut Hlth, Ctr Regenerat Med & Skeletal Dev, Dept Reconstruct Sci, Farmington, CT 06030 USA. [Collins, Michael T.] Natl Inst Dent & Craniofacial Res NIDCR, Bethesda, MD 20892 USA. [Blackwell, Keith] Univ Calif Los Angeles, Dept Head & Neck Surg, Los Angeles, CA 90095 USA. [Woo, Albert S.] Brown Univ, Warren Alpert Med Sch, Div Plast Craniofacial & Pediat Surg, Providence, RI 02903 USA. RP Hu, Y (reprint author), Capital Med Univ, Beijing Stomatol Hosp, Beijing Inst Dent Res, Beijing, Peoples R China.; Reichenberger, EJ (reprint author), Univ Connecticut Hlth, Ctr Regenerat Med & Skeletal Dev, Dept Reconstruct Sci, Farmington, CT 06030 USA. EM reichenberger@uchc.edu; hyshuai@ccmu.edu.cn FU School of Stomatology, Capital Medical University; UCH; National Natural Science Foundation of China [81570958]; High-level Talents of Beijing Health System [2013-3-036]; Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry [2015-1098]; DIR NIDCR; CRC (University of Connecticut Clinical Research Center (NIH grant) [M01RR006192] FX We thank all individuals for participating in this study and for institutional support from the School of Stomatology, Capital Medical University and UCH. We thank Drs P.G. Robey and S. Kuznetsov for providing patient cells for genetic analysis. This work was supported by the National Natural Science Foundation of China (Grant #81570958); High-level Talents of Beijing Health System (grant # 2013-3-036); Scientific Research Foundation for the Returned Overseas Chinese Scholars, State Education Ministry (grant # 2015-1098); the DIR NIDCR; and the CRC (University of Connecticut Clinical Research Center, (NIH grant # M01RR006192)). NR 29 TC 0 Z9 0 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 8 PY 2017 VL 7 AR 40935 DI 10.1038/srep40935 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK0GE UT WOS:000393604000001 PM 28176803 ER PT J AU Dai, JQ Voloshin, O Potapova, S Camerini-Otero, RD AF Dai, Jieqiong Voloshin, Oleg Potapova, Svetlana Camerini-Otero, R. Daniel TI Meiotic Knockdown and Complementation Reveals Essential Role of RAD51 in Mouse Spermatogenesis SO CELL REPORTS LA English DT Article ID DOUBLE-STRAND BREAKS; RECA HOMOLOGS RAD51; CHROMOSOME SYNAPSIS; SACCHAROMYCES-CEREVISIAE; PROPHASE ARREST; GENE-TRANSFER; IN-VIVO; DMC1; RECOMBINATION; MEIOSIS AB Meiotic homologous recombination (HR) is important for proper chromosomal segregation during gametogenesis and facilitates evolutionary adaptation via genomic reshuffling. In most eukaryotes, HR is mediated by two recombinases, the ubiquitous RAD51 and the meiosis- specific DMC1. The role of RAD51 in mammalian meiosis is unclear and study of its function is limited due to embryonic lethality of RAD51 knockouts. Here, we developed an in vivo meiotic knockdown and protein complementation system to study RAD51 during mouse spermatogenesis. We show that RAD51 is crucial during meiotic prophase and its loss leads to depletion of late prophase I spermatocytes through a p53- dependent apoptotic pathway. This phenotype is distinct from that observed in the DMC1 knockdown. Our meiotic knockdown and complementation system establishes an experimental platform for mechanistic studies of meiotic proteins with unknown functions or essential genes for which a testis- specific knockout is not possible. C1 [Dai, Jieqiong; Voloshin, Oleg; Camerini-Otero, R. Daniel] NIDDK, Genet & Biochem Branch, NIH, Bethesda, MD 20892 USA. [Potapova, Svetlana] NIDDK, Div Intramural Res, NIH, Bethesda, MD 20892 USA. RP Camerini-Otero, RD (reprint author), NIDDK, Genet & Biochem Branch, NIH, Bethesda, MD 20892 USA. EM rdcamerini@mail.nih.gov FU NIDDK Intramural Research Program FX We are grateful to G. Petukhova (Uniformed Services University of Health Sciences), P. Hsieh, F. Pratto, and K. Brick (National Institute of Diabetes and Digestive and Kidney Diseases) for valuable comments and discussion of the manuscript. We also thank M. A. Handel (The Jackson Laboratory) for the H1t antibody. This work was supported by the NIDDK Intramural Research Program (to R.D.C.-O.). NR 45 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2211-1247 J9 CELL REP JI Cell Reports PD FEB 7 PY 2017 VL 18 IS 6 BP 1383 EP 1394 DI 10.1016/j.celrep.2017.01.024 PG 12 WC Cell Biology SC Cell Biology GA EP4AR UT WOS:000397323400005 PM 28178517 ER PT J AU Flici, H Schnitzler, CE Millane, RC Govinden, G Houlihan, A Boomkamp, SD Shen, SB Baxevanis, AD Frank, U AF Flici, Hakima Schnitzler, Christine E. Millane, R. Cathriona Govinden, Graham Houlihan, Amy Boomkamp, Stephanie D. Shen, Sanbing Baxevanis, Andreas D. Frank, Uri TI An Evolutionarily Conserved SoxB-Hdac2 Crosstalk Regulates Neurogenesis in a Cnidarian SO CELL REPORTS LA English DT Article ID CENTRAL-NERVOUS-SYSTEM; HISTONE DEACETYLASES 1; EMBRYONIC STEM-CELLS; MULTIPLE SOX GENES; NEMATOSTELLA-VECTENSIS; TRANSCRIPTION FACTOR; BRAIN-DEVELOPMENT; PROGENITOR CELLS; BETA-CATENIN; DIFFERENTIATION AB SoxB transcription factors and histone deacetylases (HDACs) are each major players in the regulation of neurogenesis, but a functional link between them has not been previously demonstrated. Here, we show that SoxB2 and Hdac2 act together to regulate neurogenesis in the cnidarian Hydractinia echinata during tissue homeostasis and head regeneration. We find that misexpression of SoxB genes modifies the number of neural cells in all life stages and interferes with head regeneration. Hdac2 was coexpressed with SoxB2, and its downregulation phe-nocopied SoxB2 knockdown. We also show that SoxB2 and Hdac2 promote each other's transcript levels, but Hdac2 counteracts this amplification cycle by deacetylating and destabilizing SoxB2 protein. Finally, we present evidence for conservation of these interactions in human neural progenitors. We hypothesize that crosstalk between SoxB transcription factors and Hdac2 is an ancient feature of metazoan neurogenesis and functions to stabilize the correct levels of these multifunctional proteins. C1 [Flici, Hakima; Millane, R. Cathriona; Govinden, Graham; Houlihan, Amy; Frank, Uri] Natl Univ Ireland, Sch Nat Sci, CCB, Galway H91 CF50, Ireland. [Schnitzler, Christine E.] Univ Florida, Whitney Lab Marine Biosci, St Augustine, FL 32080 USA. [Schnitzler, Christine E.] Univ Florida, Dept Biol, Gainesville, FL 32611 USA. [Schnitzler, Christine E.; Baxevanis, Andreas D.] NHGRI, Computat & Stat Genom Branch, NIH, Bethesda, MD 20892 USA. [Boomkamp, Stephanie D.; Shen, Sanbing] Natl Univ Ireland, Regenerat Med Inst REMEDI, Galway H91 CF50, Ireland. RP Frank, U (reprint author), Natl Univ Ireland, Sch Nat Sci, CCB, Galway H91 CF50, Ireland. EM uri.frank@nuigalway.ie FU Science Foundation Ireland (SFI) [11/PI/1020]; Intramural Research Program of the National Human Genome Research Institute,NIH FX We thank members of the Frank lab for advice and assistance. HDAC2 inhibitors BRD4884 and BRD6688 were a kind gift from F.F. Wagner and E.B. Holson, Broad Institute of Harvard and MIT. Class I Hdac inhibitor RGFP966 was kindly provided by Bob Lahue, Centre for Chromosome Biology, NUI Galway. Ncol3 antibody was a kind gift from SuatO " zbek, University of Heidelberg.Katya McDonagh and Martin Madill, REMEDI, NUI Galway, are kindly acknowledged for providing human neural progenitors. This work was supported by Science Foundation Ireland (SFI) through grant number 11/PI/1020 to U.F. This work was also supported in part by the Intramural Research Program of the National Human Genome Research Institute,NIH NR 56 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2211-1247 J9 CELL REP JI Cell Reports PD FEB 7 PY 2017 VL 18 IS 6 BP 1395 EP 1409 DI 10.1016/j.celrep.2017.01.019 PG 15 WC Cell Biology SC Cell Biology GA EP4AR UT WOS:000397323400006 PM 28178518 ER PT J AU Russell, RA Chojnacki, J Jones, DM Johnson, E Do, T Eggeling, C Padilla-Parra, S Sattentau, QJ AF Russell, Rebecca A. Chojnacki, Jakub Jones, Daniel M. Johnson, Errin Do, Thao Eggeling, Christian Padilla-Parra, Sergi Sattentau, Quentin J. TI Astrocytes Resist HIV-1 Fusion but Engulf Infected Macrophage Material SO CELL REPORTS LA English DT Article ID HUMAN-IMMUNODEFICIENCY-VIRUS; HUMAN FETAL ASTROCYTES; CENTRAL-NERVOUS-SYSTEM; HUMAN GLIAL-CELLS; LASER CAPTURE MICRODISSECTION; CHEMOKINE RECEPTORS; POTENTIAL ROLE; PRODUCTIVE INFECTION; SITU HYBRIDIZATION; TYPE-1 INFECTION AB HIV-1 disseminates to diverse tissues and establishes long-lived viral reservoirs. These reservoirs include the CNS, in which macrophage-lineage cells, and as suggested by many studies, astrocytes, may be infected. Here, we have investigated astrocyte infection by HIV-1. We confirm that astrocytes trap and internalize HIV-1 particles for subsequent release but find no evidence that these particles infect the cell. Astrocyte infection was not observed by cell-free or cell-to-cell routes using diverse approaches, including luciferase and GFP reporter viruses, fixed and live-cell fusion assays, multispectral flow cytometry, and super-resolution imaging. By contrast, we observed intimate interactions between HIV-1-infected macrophages and astrocytes leading to signals that might be mistaken for astrocyte infection using less stringent approaches. These results have implications for HIV-1 infection of the CNS, viral reservoir formation, and antiretroviral therapy. C1 [Russell, Rebecca A.; Johnson, Errin; Sattentau, Quentin J.] Univ Oxford, Sir William Dunn Sch Pathol, South Parks Rd, Oxford OX1 3RE, England. [Chojnacki, Jakub; Eggeling, Christian] Univ Oxford, Weatherall Inst Mol Med, MRC Human Immunol Unit, Oxford OX3 9DS, England. [Jones, Daniel M.; Padilla-Parra, Sergi] Univ Oxford, Henry Wellcome Bldg Genom Med, Div Struct Biol, Oxford OX3 7BN, England. [Jones, Daniel M.; Padilla-Parra, Sergi] Univ Oxford, Wellcome Trust Ctr Human Genet, Cellular Imaging Core, Oxford OX3 7BN, England. [Do, Thao] NIH, Natl Canc Inst, Ctr Canc Res, Cell Biol Lab, Bethesda, MD 20892 USA. RP Sattentau, QJ (reprint author), Univ Oxford, Sir William Dunn Sch Pathol, South Parks Rd, Oxford OX1 3RE, England. EM quentin.sattentau@path.ox.ac.uk FU Medical Research Council [MC_UU_12010, G0902418, MC_UU_12025]; Wolfson Foundation [18272]; MRC/BBSRC/EPSRC [MR/K01577X/1]; Wellcome Trust [104924/14/Z/14]; Deutsche Forschungsgemeinschaft [1905]; Nuffield Department of Medicine Leadership Fellowship from Oxford University; Wellcome Trust Centre for Human Genetics is supported by Wellcome Trust [090532/Z/09/Z]; Cellular Imaging Core from the Wellcome Trust Centre for Human Genetics; Wolfson Imaging Centre at the Weatherall Institute of Molecular Medicine FX J.C. and C.E. were supported by The Medical Research Council (grant MC_UU_12010 and unit programs G0902418 and MC_UU_12025), the Wolfson Foundation (grant 18272), MRC/BBSRC/EPSRC (grant MR/K01577X/1), Wellcome Trust (grant 104924/14/Z/14), and the Deutsche Forschungsgemeinschaft (grant 1905, Research unit 1905, "Structure and Function of the Peroxisomal Translocon''). The S.P.-P. research group is funded by the Nuffield Department of Medicine Leadership Fellowship from Oxford University. The Wellcome Trust Centre for Human Genetics is supported by Wellcome Trust (grant 090532/Z/09/Z). We thank the Cellular Imaging Core from the Wellcome Trust Centre for Human Genetics and the Wolfson Imaging Centre at the Weatherall Institute of Molecular Medicine for their support and input. Q. J. S. is a Jenner investigator and a James Martin senior fellow. Electron microscopy was performed at the Dunn School EM Facility, and we are grateful to Anna Pielach for preparing the EM samples. NR 59 TC 0 Z9 0 U1 2 U2 2 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 2211-1247 J9 CELL REP JI Cell Reports PD FEB 7 PY 2017 VL 18 IS 6 BP 1473 EP 1483 DI 10.1016/j.celrep.2017.01.027 PG 11 WC Cell Biology SC Cell Biology GA EP4AR UT WOS:000397323400012 PM 28178524 ER PT J AU Gill, J Merchant-Borna, K Jeromin, A Livingston, W Bazarian, J AF Gill, Jessica Merchant-Borna, Kian Jeromin, Andreas Livingston, Whitney Bazarian, Jeffrey TI Acute plasma tau relates to prolonged return to play after concussion SO NEUROLOGY LA English DT Article ID TRAUMATIC BRAIN-INJURY; SPORTS-RELATED CONCUSSION; ICE HOCKEY PLAYERS; CEREBROSPINAL-FLUID; NEUROTROPHIC FACTOR; EXERCISE; ENCEPHALOPATHY; BIOMARKERS; MANAGEMENT; IMPACT AB Objective: To determine whether tau changes after sport-related concussion (SRC) relate to return to play (RTP). Methods: Collegiate athletes underwent preseason plasma sampling and cognitive testing and were followed. After a SRC (n = 46), athletes and controls (n 5 37) had sampling at 6 hours, and at 24 hours, 72 hours, and 7 days after SRC. A sample of 21 nonathlete controls were compared at baseline. SRC athletes were grouped by long (. 10 days, n = 23) and short (< 10 days, n = 18) RTP. Total tau was measured using an ultrasensitive immunoassay. Results: Both SRC and athlete controls had significantly higher mean tau at baseline compared to nonathlete healthy controls (F-101,(3) = 19.644, p, < 0.01). Compared to SRC athletes with short RTP, those with long RTP had higher tau concentrations overall, after controlling for sex (F-39,1 = 3.59, p = 0.022), compared to long RTP athletes, at 6 (p, 0.01), 24 (p, 0.01), and 72 hours (p = 0.02). Receiver operator characteristic analyses showed that higher plasma tau 6 hours postSRC was a significant predictor of RTP.10 days (area under the curve 0.81; 95% confidence interval 0.62-0.97, p = 0.01). Conclusions: Elevated plasma tau concentration within 6 hours following a SRC was related to having a prolonged RTP, suggesting that tau levels may help inform RTP. C1 [Gill, Jessica; Livingston, Whitney] NINR, NIH, Bethesda, MD 20892 USA. [Merchant-Borna, Kian; Bazarian, Jeffrey] Univ Rochester, Sch Med & Dent, Dept Emergency Med, Rochester, NY USA. [Jeromin, Andreas] Quanterix Corp, Lexington, MA USA. RP Gill, J (reprint author), NINR, NIH, Bethesda, MD 20892 USA. EM gillj@mail.nih.gov FU NIH/NICHD [K24HD064754]; NIH; National Institute of Nursing Research Intramural Research Program FX This work was supported by funds from the NIH/NICHD (award no.K24HD064754) and the NIH, National Institute of Nursing Research Intramural Research Program. NR 35 TC 1 Z9 1 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0028-3878 EI 1526-632X J9 NEUROLOGY JI Neurology PD FEB 7 PY 2017 VL 88 IS 6 BP 595 EP 602 PG 8 WC Clinical Neurology SC Neurosciences & Neurology GA EP4HR UT WOS:000397342100015 PM 28062722 ER PT J AU Thompson, PM Ramachandran, S Case, LB Tolbert, CE Tandon, A Pershad, M Dokholyan, NV Waterman, CM Campbell, SL AF Thompson, Peter M. Ramachandran, Srinivas Case, Lindsay B. Tolbert, Caitlin E. Tandon, Arpit Pershad, Mihir Dokholyan, Nikolay V. Waterman, Clare M. Campbell, Sharon L. TI A Structural Model for Vinculin Insertion into PIP2-Containing Membranes and the Effect of Insertion on Vinculin Activation and Localization SO STRUCTURE LA English DT Article ID DISCRETE MOLECULAR-DYNAMICS; CELL MECHANICAL-PROPERTIES; PROTEIN-KINASE-C; F-ACTIN-BINDING; FOCAL ADHESION; TAIL DOMAIN; I-GAMMA; INTRAMOLECULAR ASSOCIATION; PTDINS(4,5)P-2 SYNTHESIS; NANOSCALE ARCHITECTURE AB Vinculin, a scaffolding protein that localizes to focal adhesions (FAs) and adherens junctions, links the actin cytoskeleton to the adhesive super-structure. While vinculin binds to a number of cytoskeletal proteins, it can also associate with phosphatidylinositol 4,5-bisphosphate (PIP2) to drive membrane association. To generate a structural model for PIP2-dependent interaction of vinculin with the lipid bilayer, we conducted lipid-association, nuclear magnetic resonance, and computational modeling experiments. We find that two basic patches on the vinculin tail drive membrane association: the basic collar specifically recognizes PIP2, while the basic ladder drives association with the lipid bilayer. Vinculin mutants with defects in PIP2-dependent liposome association were then expressed in vinculin knockout murine embryonic fibroblasts. Results from these analyses indicate that PIP2 binding is not required for localization of vinculin to FAs or FA strengthening, but is required for vinculin activation and turnover at FAs to promote its association with the force transduction FA nanodomain. C1 [Thompson, Peter M.; Ramachandran, Srinivas; Tandon, Arpit; Dokholyan, Nikolay V.; Campbell, Sharon L.] Univ North Carolina Chapel Hill, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA. [Case, Lindsay B.; Waterman, Clare M.] NHLBI, Cell Biol & Physiol Ctr, NIH, Bldg 10, Bethesda, MD 20892 USA. [Tolbert, Caitlin E.] Univ North Carolina Chapel Hill, Dept Cell Biol & Physiol, Chapel Hill, NC 27599 USA. [Pershad, Mihir] Univ North Carolina Chapel Hill, Dept Chem, Chapel Hill, NC 27599 USA. [Dokholyan, Nikolay V.; Campbell, Sharon L.] Univ North Carolina Chapel Hill, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA. [Thompson, Peter M.] NIEHS, Lab Genome Integr & Struct Biol, POB 12233, Res Triangle Pk, NC 27709 USA. [Ramachandran, Srinivas] Fred Hutchinson Canc Res Ctr, Div Basic Sci, Seattle, WA 98109 USA. [Case, Lindsay B.; Waterman, Clare M.] Univ Texas Southwestern Med Ctr Dallas, Dept Biophys, Dallas, TX 75390 USA. [Tolbert, Caitlin E.] Francis Crick Inst, Cellular Signaling & Cytoskeletal Funct Lab, London NW1 1AT, England. RP Campbell, SL (reprint author), Univ North Carolina Chapel Hill, Dept Biochem & Biophys, Chapel Hill, NC 27599 USA.; Campbell, SL (reprint author), Univ North Carolina Chapel Hill, Lineberger Comprehens Canc Ctr, Chapel Hill, NC 27599 USA. EM campbesl@med.unc.edu OI Ramachandran, Srinivas/0000-0003-2929-1377 FU American Heart Association [12PRE11820012]; NIH [1R01GM115597, GM029860] FX P.M.T. was supported by the American Heart Association (12PRE11820012). Funding to S.L.C. and N.V.D. was supported by the NIH (1R01GM115597). Funding to C.E.T. was supported by the NIH (GM029860). The authors wish to thank Evan Nelsen, Greg Young, and Paul Sapienza for their assistance with methods as well as Keith Burridge for his feedback on the manuscript. NR 58 TC 0 Z9 0 U1 1 U2 1 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0969-2126 EI 1878-4186 J9 STRUCTURE JI Structure PD FEB 7 PY 2017 VL 25 IS 2 BP 264 EP 275 DI 10.1016/j.str.2016.12.002 PG 12 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA EO4ZL UT WOS:000396702700008 PM 28089450 ER PT J AU Markovic-Mueller, S Stuttfeld, E Asthana, M Weinert, T Bliven, S Goldie, KN Kisko, K Capitani, G Ballmer-Hofer, K AF Markovic-Mueller, Sandra Stuttfeld, Edward Asthana, Mayanka Weinert, Tobias Bliven, Spencer Goldie, Kenneth N. Kisko, Kaisa Capitani, Guido Ballmer-Hofer, Kurt TI Structure of the Full-length VEGFR-1 Extracellular Domain in Complex with VEGF-A SO STRUCTURE LA English DT Article ID ENDOTHELIAL-GROWTH-FACTOR; RECEPTOR TYROSINE KINASE; STEM-CELL FACTOR; LIGAND-BINDING; CRYSTAL-STRUCTURE; FLT-1 RECEPTOR; ACTIVATION; ANGIOGENESIS; DIMERIZATION; CONTACTS AB Vascular endothelial growth factors (VEGFs) regulate blood and lymph vessel development upon activation of three receptor tyrosine kinases: VEGFR-1, -2, and -3. Partial structures of VEGFR/VEGF complexes based on single-particle electron microscopy, small-angle X-ray scattering, and X-ray crystallography revealed the location of VEGF binding and domain arrangement of individual receptor subdomains. Here, we describe the structure of the full-length VEGFR-1 extracellular domain in complex with VEGF-A at 4 angstrom resolution. We combined X-ray crystallography, single-particle electron microscopy, and molecular modeling for structure determination and validation. The structure reveals the molecular details of ligand-induced receptor dimerization, in particular of homotypic receptor interactions in immunoglobulin homology domains 4, 5, and 7. Functional analyses of ligand binding and receptor activation confirm the relevance of these homotypic contacts and identify them as potential therapeutic sites to allosterically inhibit VEGFR-1 activity. C1 [Markovic-Mueller, Sandra; Asthana, Mayanka; Weinert, Tobias; Bliven, Spencer; Kisko, Kaisa; Capitani, Guido; Ballmer-Hofer, Kurt] Paul Scherrer Inst, Lab Biomol Res, CH-5232 Villigen, Switzerland. [Stuttfeld, Edward] Univ Basel, Biozentrum, CH-4056 Basel, Switzerland. [Goldie, Kenneth N.] Univ Basel, Biozentrum, C CINA, CH-4056 Basel, Switzerland. [Bliven, Spencer] Natl Lib Med, Natl Ctr Biotechnol Informat, NIH, Bethesda, MD 20894 USA. [Markovic-Mueller, Sandra] LeadXpro AG, Pk Innovaare, CH-5234 Villigen, Switzerland. RP Ballmer-Hofer, K (reprint author), Paul Scherrer Inst, Lab Biomol Res, CH-5232 Villigen, Switzerland. EM kurt.ballmer-hofer@unibas.ch FU Swiss National Science Foundation [31003A-130463]; Oncosuisse [OC2 01200-08-2007]; Intramural Research Program of the NCBI; National Library of Medicine; NIH (United States) FX K.B.-H. thanks the Swiss National Science Foundation (grant 31003A-130463) and Oncosuisse (grant OC2 01200-08-2007) for continuous support of his research. S.B. was supported by the Intramural Research Program of the NCBI, National Library of Medicine, and NIH (United States). We are also grateful to Thomas Schleier, Kate Thieltges, and Julia Kostin for technical assistance and the staff of the X06SA and X06DA beamlines of the Swiss Light Source for their support during data collection. We thank the Foldit players and Firas Khatib for modeling D1 and D6 (https://fold.it/portal/info/credits). NR 58 TC 0 Z9 0 U1 2 U2 2 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0969-2126 EI 1878-4186 J9 STRUCTURE JI Structure PD FEB 7 PY 2017 VL 25 IS 2 BP 341 EP 352 DI 10.1016/j.str.2016.12.012 PG 12 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA EO4ZL UT WOS:000396702700015 PM 28111021 ER PT J AU Song, H Fang, XY Jin, L Shaw, GX Wang, YX Ji, XH AF Song, He Fang, Xianyang Jin, Lan Shaw, Gary X. Wang, Yun-Xing Ji, Xinhua TI The Functional Cycle of Rnt1p: Five Consecutive Steps of Double-Stranded RNA Processing by a Eukaryotic RNase III SO STRUCTURE LA English DT Article ID SMALL-ANGLE SCATTERING; MOLECULAR-STRUCTURE DETERMINATION; X-RAY-SCATTERING; RIBONUCLEASE-III; BIOLOGICAL MACROMOLECULES; STRUCTURAL BASIS; XPLOR-NIH; MECHANISM; DICER; COMPLEX AB Double-stranded RNA (dsRNA)-specific RNase III proteins are required for RNA maturation and gene regulation. The mechanism of prokaryotic RNase IIIs has been well characterized, but how eukaryotic RNase IIIs (exemplified by Rnt1p, Drosha, and Dicer) work is less clear. Recently, we reported the crystal structure of Rnt1p in complex with RNA, revealing a double-ruler mechanism for substrate selection. Here, we present more structures of Rnt1p, either RNA free or RNA bound, featuring two major conformations of the enzyme. Using these structures with existing data, we describe the functional cycle of Rnt1p in five steps, selecting, loading, locking, cleavage, and releasing. We also describe atomic details of the two-Mg2+-ion catalytic mechanism that is applicable to all eukaryotic RNase III enzymes. Overall, our results indicate that substrate selection is achieved independent of cleavage, allowing the recognition of substrates with different structures while preserving the basic mechanism of cleavage. C1 [Song, He; Jin, Lan; Shaw, Gary X.; Ji, Xinhua] NCI, Macromol Crystallog Lab, Frederick, MD 21702 USA. [Fang, Xianyang; Wang, Yun-Xing] NCI, Struct Biophys Lab, Frederick, MD 21702 USA. [Fang, Xianyang] Tsinghua Univ, Sch Life Sci, Beijing 100084, Peoples R China. RP Ji, XH (reprint author), NCI, Macromol Crystallog Lab, Frederick, MD 21702 USA. EM jix@mail.nih.gov FU Department of Energy, Office of Science, Office of Basic Energy Sciences [DE-AC02-06CH11357, 22978]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research FX We thank Dr. Xiaobing Zuo for assistance with the SAXS experiments and Drs. Sherif Abou Elela, Donald Court, and Alexander Wlodawer for critical reading of the manuscript and insightful discussions. X-ray diffraction data were collected at the SER-CAT beamlines of the Advanced Photon Source (APS), Argonne National Laboratory (ANL). SAXS data were collected at the APS beamline 12-ID-B, ANL. Use of the APS was supported by the U.S. Department of Energy, Office of Science, Office of Basic Energy Sciences, under contract no. DE-AC02-06CH11357 and under the Partner User Proposal PUP no. 22978. This research was supported by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research. NR 48 TC 0 Z9 0 U1 2 U2 2 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0969-2126 EI 1878-4186 J9 STRUCTURE JI Structure PD FEB 7 PY 2017 VL 25 IS 2 BP 353 EP 363 DI 10.1016/j.str.2016.12.013 PG 11 WC Biochemistry & Molecular Biology; Biophysics; Cell Biology SC Biochemistry & Molecular Biology; Biophysics; Cell Biology GA EO4ZL UT WOS:000396702700016 PM 28111020 ER PT J AU Dalgard, C Eidelman, O Jozwik, C Olsen, CH Srivastava, M Biswas, R Eudy, Y Rothwell, SW Mueller, GP Yuan, P Drevets, WC Manji, HK Vythlingam, M Charney, DS Neumeister, A Ursano, RJ Jacobowitz, DM Pollard, HB Bonne, O AF Dalgard, C. Eidelman, O. Jozwik, C. Olsen, C. H. Srivastava, M. Biswas, R. Eudy, Y. Rothwell, S. W. Mueller, G. P. Yuan, P. Drevets, W. C. Manji, H. K. Vythlingam, M. Charney, D. S. Neumeister, A. Ursano, R. J. Jacobowitz, D. M. Pollard, H. B. Bonne, O. TI The MCP-4/MCP-1 ratio in plasma is a candidate circadian biomarker for chronic post-traumatic stress disorder SO TRANSLATIONAL PSYCHIATRY LA English DT Article ID CEREBROSPINAL-FLUID; MONOCYTES; SLEEP; INFLAMMATION; DEPRESSION; CHEMOKINE; TRAUMA; RHYTHM; CLOCK AB Post-traumatic stress disorder (PTSD) is psychiatric disease, which can occur following exposure to traumatic events. PTSD may be acute or chronic, and can have a waxing and waning course of symptoms. It has been hypothesized that proinflammatory cytokines and chemokines in the cerebrospinal fluid (CSF) or plasma might be mediators of the psychophysiological mechanisms relating a history of trauma exposure to changes in behavior and mental health disorders, and medical morbidity. Here we test the cytokine/ chemokine hypothesis for PTSD by examining levels of 17 classical cytokines and chemokines in CSF, sampled at 0900 hours, and in plasma sampled hourly for 24 h. The PTSD and healthy control patients are from the NIMH Chronic PTSD and healthy control cohort, initially described by Bonne et al. (2011), in which the PTSD patients have relatively low comorbidity for major depressive disorder (MDD), drug or alcohol use. We find that in plasma, but not CSF, the bivariate MCP4 (CCL13)/MCP1(CCL2) ratio is ca. twofold elevated in PTSD patients compared with healthy controls. The MCP-4/MCP-1 ratio is invariant over circadian time, and is independent of gender, body mass index or the age at which the trauma was suffered. By contrast, MIP-1 alpha is a candidate biomarker for PTSD only in females, whereas TARC is a candidate biomarker for PTSD only in males. It remains to be discovered whether these disease-specific differences in circadian expression for these specific immune signaling molecules are biomarkers, surrogates, or drivers for PTSD, or whether any of these analytes could contribute to therapy. C1 [Dalgard, C.; Eidelman, O.; Srivastava, M.; Biswas, R.; Eudy, Y.; Rothwell, S. W.; Mueller, G. P.; Jacobowitz, D. M.; Pollard, H. B.] Uniformed Serv Univ Hlth Sci, Uniformed Serv Univ Sch Med, Dept Anat Physiol & Genet, 4301 Jones Bridge Rd, Bethesda, MD 20814 USA. [Dalgard, C.; Jozwik, C.; Srivastava, M.; Biswas, R.; Mueller, G. P.; Jacobowitz, D. M.; Pollard, H. B.] Uniformed Serv Univ Hlth Sci, Uniformed Serv Univ Sch Med, CHIRP, Bethesda, MD 20814 USA. [Jozwik, C.] Henry M Jackson Fdn Mil Med, Bethesda, MD USA. [Olsen, C. H.] Uniformed Serv Univ Hlth Sci, Uniformed Serv Univ Sch Med, Dept Prevent Med & Biometr, Bethesda, MD 20814 USA. [Yuan, P.] NIMH, Mood & Anxiety Disorders Branch, Bethesda, MD 20892 USA. [Rothwell, S. W.; Mueller, G. P.] LLC, Janssen Res & Dev, Johnson & Johnson, Titusville, NJ USA. [Vythlingam, M.] United States Dept Def, Washington, DC USA. [Vythlingam, M.; Charney, D. S.] Mt Sinai Sch Med, Office Dean, New York, NY USA. [Neumeister, A.] Mitsubishi Tanabe Pharma Dev Amer, Jersey City, NJ USA. [Ursano, R. J.] Uniformed Serv Univ Hlth Sci, Uniformed Serv Univ Sch Med, Dept Psychiat, Bethesda, MD 20814 USA. [Ursano, R. J.] Uniformed Serv Univ Hlth Sci, Uniformed Serv Univ Sch Med, Ctr Study Traumat Stress, Bethesda, MD 20814 USA. [Bonne, O.] Hadassah Med Ctr, Dept Psychiat, Jerusalem, Israel. RP Pollard, HB (reprint author), Uniformed Serv Univ Hlth Sci, Uniformed Serv Univ Sch Med, Dept Anat Physiol & Genet, 4301 Jones Bridge Rd, Bethesda, MD 20814 USA. EM Harvey.pollard@usuhs.edu; bonne@hadassah.org.il FU CDMRP [W81WH-08-2-0201]; Center for Neurology and Regenerative Medicine (CNRM); Center for Studies on Traumatic Stress (CSTS); Collaborative Health Initiative Research Program (CHIRP) FX We acknowledge support from CDMRP No. W81WH-08-2-0201, PI: HBP); the Center for Neurology and Regenerative Medicine (CNRM; PI: HBP); and Center for Studies on Traumatic Stress (CSTS, PI: RJU); and Collaborative Health Initiative Research Program (CHIRP, PI: HBP). We also acknowledge the National Institute of Mental Health (NIMH, NIH) clinical study for which both NIH and USUHS Institutional Investigational Review Board (IRB) approvals made samples of CSF and plasma available for this study (Protocol 02-M-0317; PI: OB). NR 32 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 2158-3188 J9 TRANSL PSYCHIAT JI Transl. Psychiatr. PD FEB 7 PY 2017 VL 7 AR e1025 DI 10.1038/tp.2016.285 PG 11 WC Psychiatry SC Psychiatry GA EP2KY UT WOS:000397213200003 PM 28170001 ER PT J AU Crowley, MJ Diamantidis, CJ McDuffie, JR Cameron, CB Stanifer, JW Mock, CK Wang, XW Tang, S Nagi, A Kosinski, AS Williams, JW AF Crowley, Matthew J. Diamantidis, Clarissa J. McDuffie, Jennifer R. Cameron, C. Blake Stanifer, John W. Mock, Clare K. Wang, Xianwei Tang, Shuang Nagi, Avishek Kosinski, Andrzej S. Williams, John W., Jr. TI Clinical Outcomes of Metformin Use in Populations With Chronic Kidney Disease, Congestive Heart Failure, or Chronic Liver Disease A Systematic Review SO ANNALS OF INTERNAL MEDICINE LA English DT Review ID CARDIOVASCULAR EVENTS; DIABETES-MELLITUS; SERUM CREATININE; OLDER-ADULTS; MORTALITY; METAANALYSIS; TRIALS; COHORT; RISK; ASSOCIATION AB Background: Recent changes to the U.S. Food and Drug Administration boxed warning for metformin will increase its use in persons with historical contraindications or precautions. Prescribers must understand the clinical outcomes of metformin use in these populations. Purpose: To synthesize data addressing outcomes of metformin use in populations with type 2 diabetes and moderate to severe chronic kidney disease (CKD), congestive heart failure (CHF), or chronic liver disease (CLD) with hepatic impairment. Data Sources: MEDLINE (via PubMed) from January 1994 to September 2016, and Cochrane Library, EMBASE, and International Pharmaceutical Abstracts from January 1994 to November 2015. Study Selection: English-language studies that: 1) examined adults with type 2 diabetes and CKD (with estimated glomerular filtration rate less than 60 mL/min/1.73 m(2)), CHF, or CLD with hepatic impairment; 2) compared diabetes regimens that included metformin with those that did not; and 3) reported all-cause mortality, major adverse cardiovascular events, and other outcomes of interest. Data Extraction: 2 reviewers abstracted data and independently rated study quality and strength of evidence. Data Synthesis: On the basis of quantitative and qualitative syntheses involving 17 observational studies, metformin use is associated with reduced all-cause mortality in patients with CKD, CHF, or CLD with hepatic impairment, and with fewer heart failure readmissions in patients with CKD or CHF. Limitations: Strength of evidence was low, and data on multiple outcomes of interest were sparse. Available studies were observational and varied in follow-up duration. Conclusion: Metformin use in patients with moderate CKD, CHF, or CLD with hepatic impairment is associated with improvements in key clinical outcomes. Our findings support the recent changes in metformin labeling. C1 [Nagi, Avishek] Durham Vet Affairs Med Ctr, 508 Fulton St, Durham, NC 27705 USA. Duke Univ, Sch Med, Durham, NC USA. [Crowley, Matthew J.] Durham Vet Affairs Med Ctr, Hlth Serv Res & Dev 152, 508 Fulton St, Durham, NC 27705 USA. [Diamantidis, Clarissa J.; Williams, John W., Jr.] 411 West Chapel Hill St,Suite 500, Durham, NC 27701 USA. [McDuffie, Jennifer R.] 411 West Chapel Hill St,Suite 6, Durham, NC 27701 USA. [Cameron, C. Blake] 2424 Erwin Rd,Suite 605, Durham, NC 27705 USA. [Stanifer, John W.] Duke Clin Res Inst, 2400 Pratt St, Durham, NC 27705 USA. [Mock, Clare K.] Univ N Carolina, Hillsborough Hosp, 430 Waterstone Dr, Hillsborough, NC 27278 USA. [Wang, Xianwei] Capital Med Univ, Beijing Tiantan Hosp, Dept Neurol, 6 Tiantan Xili, Beijing 100050, Peoples R China. [Tang, Shuang] NIEHS, Signal Transduct Lab, Res Triangle Pk, NC 27709 USA. [Kosinski, Andrzej S.] Duke Clin Res Inst, Room 7058,POB 17969, Durham, NC 27715 USA. RP Crowley, MJ (reprint author), Durham Vet Affairs Med Ctr, Hlth Serv Res & Dev 152, 508 Fulton St, Durham, NC 27705 USA. EM matthew.crowley@dm.duke.edu FU VHA Evidence-based Synthesis Program [09-009]; Career Development Award from VHA Health Services Research and Development [CDA 13-261]; Mentored Patient-Oriented Research Career Development Award from the National Institute of Diabetes and Digestive and Kidney Diseases [K23-DK099385] FX This project was supported by the VHA Evidence-based Synthesis Program (project 09-009). Dr. Crowley is supported by a Career Development Award from VHA Health Services Research and Development (CDA 13-261). Dr. Diamantidis is supported by a Mentored Patient-Oriented Research Career Development Award from the National Institute of Diabetes and Digestive and Kidney Diseases (K23-DK099385). NR 52 TC 1 Z9 1 U1 0 U2 0 PU AMER COLL PHYSICIANS PI PHILADELPHIA PA INDEPENDENCE MALL WEST 6TH AND RACE ST, PHILADELPHIA, PA 19106-1572 USA SN 0003-4819 EI 1539-3704 J9 ANN INTERN MED JI Ann. Intern. Med. PD FEB 7 PY 2017 VL 166 IS 3 BP 191 EP + DI 10.7326/M16-1901 PG 21 WC Medicine, General & Internal SC General & Internal Medicine GA EL7DL UT WOS:000394781200008 PM 28055049 ER PT J AU Friend, DM Devarakonda, K O'Neal, TJ Skirzewski, M Papazoglou, I Kaplan, AR Liow, JS Guo, J Rane, SG Rubinstein, M Alvarez, VA Hall, KD Kravitz, AV AF Friend, Danielle M. Devarakonda, Kavya O'Neal, Timothy J. Skirzewski, Miguel Papazoglou, Ioannis Kaplan, Alanna R. Liow, Jeih-San Guo, Juen Rane, Sushil G. Rubinstein, Marcelo Alvarez, Veronica A. Hall, Kevin D. Kravitz, Alexxai V. TI Basal Ganglia Dysfunction Contributes to Physical Inactivity in Obesity SO CELL METABOLISM LA English DT Article ID DIET-INDUCED OBESITY; DOPAMINE-RECEPTOR GENE; HIGH-FAT DIET; LOW-ENERGY INTAKE; Y GASTRIC BYPASS; SEDENTARY BEHAVIOR; OVERWEIGHT WOMEN; EATING BEHAVIOR; D2 RECEPTORS; WEIGHT-LOSS AB Obesity is associated with physical inactivity, which exacerbates the health consequences of weight gain. However, the mechanisms that mediate this association are unknown. We hypothesized that deficits in dopamine signaling contribute to physical inactivity in obesity. To investigate this, we quantified multiple aspects of dopamine signaling in lean and obese mice. We found that D2-type receptor (D2R) binding in the striatum, but not D1-type receptor binding or dopamine levels, was reduced in obese mice. Genetically removing D2Rs from striatal medium spiny neurons was sufficient to reduce motor activity in lean mice, whereas restoring G(i) signaling in these neurons increased activity in obese mice. Surprisingly, although mice with low D2Rs were less active, they were not more vulnerable to diet-induced weight gain than control mice. We conclude that deficits in striatal D2R signaling contribute to physical inactivity in obesity, but inactivity is more a consequence than a cause of obesity. C1 [Friend, Danielle M.; Devarakonda, Kavya; O'Neal, Timothy J.; Papazoglou, Ioannis; Guo, Juen; Rane, Sushil G.; Hall, Kevin D.; Kravitz, Alexxai V.] Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, Natl Inst Diabet & Digest & Kidney Dis, NIH, Bethesda, MD 20892 USA. [Kaplan, Alanna R.; Alvarez, Veronica A.] Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, NIAID, NIH, Bethesda, MD 20892 USA. [Kravitz, Alexxai V.] Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, NIDA, NIH, Bethesda, MD 20892 USA. [Liow, Jeih-San] Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, NIMH, NIH, Bethesda, MD 20892 USA. [Skirzewski, Miguel] Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, Sect Mol Neurobiol, NIH, Bethesda, MD 20892 USA. [Rubinstein, Marcelo] Consejo Nacl Invest Cient & Tecn, Inst Invest Ingn Genet & Biol Mol, C1428ADN, Buenos Aires, DF, Argentina. [Rubinstein, Marcelo] Univ Buenos Aires, FCEN, Dept Physiol Mol & Cellular Biol, C1428EGA, Buenos Aires, DF, Argentina. [Rubinstein, Marcelo] Univ Michigan, Sch Med, Dept Mol & Integrat Physiol, Ann Arbor, MI 48109 USA. RP Kravitz, AV (reprint author), Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, Natl Inst Diabet & Digest & Kidney Dis, NIH, Bethesda, MD 20892 USA.; Kravitz, AV (reprint author), Eunice Shriver Kennedy Natl Inst Child Hlth & Hum, NIDA, NIH, Bethesda, MD 20892 USA. EM lex.kravitz@nih.gov FU Intramural Research Program of the NIH, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) FX This work was supported by the Intramural Research Program of the NIH, the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). We would like to thank the Mouse Metabolism Core at the NIDDK for assessing serum metabolites and hormones, Andres Buonanno with his assistance in designing dopamine microdialysis experiments, and Dr. Judith Walters, Dr. Kristin Dupre, and Dr. Claire Delaville for assistance with HPLC dopamine tissue content analysis. We would also like to thank Dr. Scott Young for the use of his laboratory equipment and assistance with binding studies. Thanks also to the members of the A.V.K. laboratory, Marc Reitman, and Nick Ryba for input on experimental design and careful reading of the manuscript. NR 71 TC 0 Z9 0 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1550-4131 EI 1932-7420 J9 CELL METAB JI Cell Metab. PD FEB 7 PY 2017 VL 25 IS 2 BP 312 EP 321 DI 10.1016/j.cmet.2016.12.001 PG 10 WC Cell Biology; Endocrinology & Metabolism SC Cell Biology; Endocrinology & Metabolism GA EN9YB UT WOS:000396354400013 PM 28041956 ER PT J AU Visweswaraiah, J Hinnebusch, AG AF Visweswaraiah, Jyothsna Hinnebusch, Alan G. TI Interface between 40S exit channel protein uS7/Rps5 and eIF2 alpha modulates start codon recognition in vivo SO ELIFE LA English DT Article ID EUKARYOTIC TRANSLATION INITIATION; FACTOR 1 EIF1; SACCHAROMYCES-CEREVISIAE; PREINITIATION COMPLEX; SCANNING MECHANISM; RIBOSOMAL-SUBUNIT; SELECTION; ELEMENTS; BINDING; ACCURACY AB The eukaryotic pre-initiation complex (PIC) bearing the eIF2.GTP.Met-tRNA(i)(Met) ternary complex (TC) scans the mRNA for an AUG codon in favorable context. AUG recognition evokes rearrangement of the PIC from an open, scanning to a closed, arrested conformation. Cryo-EM reconstructions of yeast PICs suggest remodeling of the interface between 40S protein Rps5/uS7 and eIF2 alpha between open and closed states; however, its importance was unknown. uS7 substitutions disrupting eIF2 alpha contacts favored in the open complex increase initiation at suboptimal sites, and uS7-S223D stabilizes TC binding to PICs reconstituted with a UUG start codon, indicating inappropriate rearrangement to the closed state. Conversely, uS7-D215 substitutions, perturbing uS7-eIF2 alpha interaction in the closed state, confer the opposite phenotypes of hyperaccuracy and (for D215L) accelerated TC dissociation from reconstituted PICs. Thus, remodeling of the uS7/eIF2 alpha interface appears to stabilize first the open, and then the closed state of the PIC to promote accurate AUG selection in vivo. C1 [Visweswaraiah, Jyothsna; Hinnebusch, Alan G.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Lab Gene Regulat & Dev, NIH, Bethesda, MD 20892 USA. RP Hinnebusch, AG (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Lab Gene Regulat & Dev, NIH, Bethesda, MD 20892 USA. EM ahinnebusch@nih.gov FU National Institutes of Health Intramural Program [HD001004] FX National Institutes of Health Intramural Program HD001004 Alan G Hinnebusch; The funders had no role in study design, data collection and interpretation, or the decision to submit the work for publication. NR 32 TC 0 Z9 0 U1 0 U2 0 PU ELIFE SCIENCES PUBLICATIONS LTD PI CAMBRIDGE PA SHERATON HOUSE, CASTLE PARK, CAMBRIDGE, CB3 0AX, ENGLAND SN 2050-084X J9 ELIFE JI eLife PD FEB 7 PY 2017 VL 6 AR e22572 DI 10.7554/eLife.22572 PG 22 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EM3HC UT WOS:000395204100001 ER PT J AU Greenbaum, AB Babaliaros, VC Chen, MY Stine, AM Rogers, T O'Neill, WW Paone, G Thourani, VH Muhammad, KI Leonardi, RA Ramee, S Troendle, JF Lederman, RJ AF Greenbaum, Adam B. Babaliaros, Vasilis C. Chen, Marcus Y. Stine, Annette M. Rogers, Toby O'Neill, William W. Paone, Gaetano Thourani, Vinod H. Muhammad, Kamran I. Leonardi, Robert A. Ramee, Stephen Troendle, James F. Lederman, Robert J. TI Transcaval Access and Closure for Transcatheter Aortic Valve Replacement A Prospective Investigation SO JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY LA English DT Article DE caval-aortic access; nontransfemoral access; structural heart disease; transcatheter aortic valve replacement; transcaval; vascular access ID INTERMEDIATE-RISK PATIENTS; IMPLANTATION; REGISTRY; STENOSIS; BIOPROSTHESIS; EXPERIENCE; OUTCOMES; SURGERY AB BACKGROUND Transcaval access may enable fully percutaneous transcatheter aortic valve replacement (TAVR) without the hazards and discomfort of transthoracic (transapical or transaortic) access. OBJECTIVES The authors performed a prospective, independently adjudicated, multicenter, single-arm trial of transcaval access for TAVR in patients who were ineligible for femoral artery access and had high or prohibitive risk of complications from transthoracic access. METHODS A total of 100 patients underwent attempted percutaneous transcaval access to the abdominal aorta by electrifying a caval guidewire and advancing it into a pre-positioned aortic snare. After exchanging for a rigid guidewire, conventional TAVR was performed through transcaval introducer sheaths. Transcaval access ports were closed with nitinol cardiac occluders. A core laboratory analyzed pre-discharge and 30-day abdominal computed tomograms. The Society of Thoracic Surgeons predicted risk of mortality was 9.6 +/- 6.3%. RESULTS Transcaval access was successful in 99 of 100 patients. Device success (access and closure with a nitinol cardiac occluder without death or emergency surgical rescue) occurred 98 of 99 patients; 1 subject had closure with a covered stent. Inpatient survival was 96%, and 30-day survival was 92%. Second Valve Academic Research Consortium (VARC-2) life-threatening bleeding and modified VARC-2 major vascular complications possibly related to transcaval access were 7% and 13%, respectively. Median length of stay was 4 days (range 2 to 6 days). There were no vascular complications after discharge. CONCLUSIONS Transcaval access enabled TAVR in patients who were not good candidates for transthoracic access. Bleeding and vascular complications, using permeable nitinol cardiac occluders to close the access ports, were common but acceptable in this high-risk cohort. Transcaval access should be investigated in patients who are eligible for transthoracic access. Purpose-built closure devices are in development that may simplify the procedure and reduce bleeding. (Transcaval Access for Transcatheter Aortic Valve Replacement in People With No Good Options for Aortic Access; NCT02280824) Published by Elsevier on behalf of the American College of Cardiology Foundation. C1 [Greenbaum, Adam B.; O'Neill, William W.; Paone, Gaetano] Henry Ford Hosp, Detroit, MI 48202 USA. [Babaliaros, Vasilis C.; Thourani, Vinod H.] Emory Univ, Atlanta, GA 30322 USA. [Chen, Marcus Y.; Stine, Annette M.; Rogers, Toby; Troendle, James F.; Lederman, Robert J.] NHLBI, NIH, Bldg 10, Bethesda, MD 20892 USA. [Muhammad, Kamran I.] Oklahoma Heart Inst, Tulsa, OK USA. [Leonardi, Robert A.] Lexington Med Ctr, W Columbia, SC USA. [Ramee, Stephen] Ochsner Med Ctr, New Orleans, LA USA. RP Lederman, RJ (reprint author), NHLBI, Cardiovasc & Pulm Branch, Div Intramural Res, NIH, Bldg 10,Room 2c713,MSC 1538, Bethesda, MD 20892 USA. EM lederman@nih.gov FU NHLBI Division of Intramural Research [Z01-HL006040]; St. Jude Medical; Edwards Lifesciences; Abbott Vascular; Medtronic; Boston Scientific; Abbott Medical FX This study was supported by the NHLBI Division of Intramural Research Z01-HL006040. Dr. Greenbaum is a proctor for Edwards Lifesciences and St. Jude Medical; and his employer receives research support from St. Jude Medical. Dr. Babaliaros is a researcher and consultant for Edwards Lifesciences and Abbott Vascular; and his employer receives research support from Edwards Lifesciences, Abbott Vascular, Medtronic, St. Jude Medical, and Boston Scientific. Dr. O'Neill is a consultant for Edwards Lifesciences, Medtronic, St. Jude Medical, and Boston Scientific. Dr. Paone is a consultant and proctor for Edwards Lifesciences. Dr. Thourani is a consultant for Edwards Lifesciences and Abbott Vascular; and his employer receives research support from Edwards Lifesciences, Boston Scientific, Medtronic, St. Jude Medical, and Abbott Medical. Dr. Muhammad is a consultant for Edwards Lifesciences and Abiomed. Dr. Leonardi is a consultant for St. Jude Medical; and a paid speaker for Edwards Lifesciences. Dr. Ramee is an investigator for Edwards Lifesciences and St. Jude Medical; and has received honoraria from Edwards Lifesciences and Medtronic. Drs. Greenbaum, Rogers, and Lederman are co-inventors of devices, not tested in this protocol, intended to close transcaval access. The other authors have reported that they have no relationships relevant to the contents of this paper to disclose. NR 26 TC 2 Z9 2 U1 2 U2 2 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0735-1097 EI 1558-3597 J9 J AM COLL CARDIOL JI J. Am. Coll. Cardiol. PD FEB 7 PY 2017 VL 69 IS 5 BP 511 EP 521 DI 10.1016/j.jacc.2016.10.024 PG 11 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EJ1UE UT WOS:000392994900007 PM 27989885 ER PT J AU Lacy, ME Wellenius, GA Sumner, AE Correa, A Carnethon, MR Liem, RI Wilson, JG Sacks, DB Jacobs, DR Carson, AP Luo, X Gjelsvik, A Reiner, AP Naik, RP Liu, SM Musani, SK Eaton, CB Wu, WC AF Lacy, Mary E. Wellenius, Gregory A. Sumner, Anne E. Correa, Adolfo Carnethon, Mercedes R. Liem, Robert I. Wilson, James G. Sacks, David B. Jacobs, David R., Jr. Carson, April P. Luo, Xi Gjelsvik, Annie Reiner, Alexander P. Naik, Rakhi P. Liu, Simin Musani, Solomon K. Eaton, Charles B. Wu, Wen-Chih TI Association of Sickle Cell Trait With Hemoglobin A(1c) in African Americans SO JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION LA English DT Article ID UNITED-STATES; LIFE-SPAN; A1C; GLUCOSE; ADULTS; PREVALENCE; DISPARITIES; HBA(1C) AB IMPORTANCE Hemoglobin A(1c) (HbA(1c)) reflects past glucose concentrations, but this relationship may differ between those with sickle cell trait (SCT) and those without it. OBJECTIVE To evaluate the association between SCT and HbA(1c) for given levels of fasting or 2-hour glucose levels among African Americans. DESIGN, SETTING, AND PARTICIPANTS Retrospective cohort study using data collected from 7938 participants in 2 community-based cohorts, the Coronary Artery Risk Development in Young Adults (CARDIA) study and the Jackson Heart Study (JHS). From the CARDIA study, 2637 patients contributed a maximum of 2 visits (2005-2011); from the JHS, 5301 participants contributed a maximum of 3 visits (2000-2013). All visits were scheduled at approximately 5-year intervals. Participants without SCT data, those without any concurrent HbA(1c) and glucose measurements, and those with hemoglobin variants HbSS, HbCC, or HbAC were excluded. Analysis of the primary outcome was conducted using generalized estimating equations (GEE) to examine the association of SCT with HbA(1c) levels, controlling for fasting or 2-hour glucose measures. EXPOSURES Presence of SCT. MAIN OUTCOMES AND MEASURES Hemoglobin A(1c) stratified by the presence or absence of SCT was the primary outcome measure. RESULTS The analytic sample included 4620 participants (mean age, 52.3 [SD, 11.8] years; 2835 women [61.3%]; 367 [7.9%] with SCT) with 9062 concurrent measures of fasting glucose and HbA(1c) levels. In unadjusted GEE analyses, for a given fasting glucose, HbA(1c) values were statistically significantly lower in those with (5.72%) vs those without (6.01%) SCT (mean HbA(1c) difference, -0.29%; 95% CI, -0.35% to -0.23%). Findings were similar in models adjusted for key risk factors and in analyses using 2001 concurrent measures of 2-hour glucose and HbA(1c) concentration for those with SCT (mean, 5.35%) vs those without SCT (mean, 5.65%) for a mean HbA(1c) difference of -0.30% (95% CI, -0.39% to -0.21%). The HbA(1c) difference by SCT was greater at higher fasting (P=.02 for interaction) and 2-hour (P=.03) glucose concentrations. The prevalence of prediabetes and diabetes was statistically significantly lower among participants with SCT when defined using HbA(1c) values (29.2% vs 48.6% for prediabetes and 3.8% vs 7.3% for diabetes in 572 observations from participants with SCT and 6877 observations from participants without SCT; P<. 001 for both comparisons). CONCLUSIONS AND RELEVANCE Among African Americans from 2 large, well-established cohorts, participants with SCT had lower levels of HbA(1c) at any given concentration of fasting or 2-hour glucose compared with participants without SCT. These findings suggest that HbA(1c) may systematically underestimate past glycemia in black patients with SCT and may require further evaluation. C1 [Lacy, Mary E.; Wellenius, Gregory A.; Gjelsvik, Annie; Liu, Simin; Eaton, Charles B.; Wu, Wen-Chih] Brown Univ, Sch Publ Hlth, Dept Epidemiol, 121 S Main St,POB G, Providence, RI 02906 USA. [Sumner, Anne E.] NIDDK, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA. [Sumner, Anne E.] Natl Inst Minor Hlth & Hlth Dispar, NIH, Bethesda, MD USA. [Correa, Adolfo; Musani, Solomon K.] Univ Mississippi, Med Ctr, Dept Med, Jackson, MS 39216 USA. [Carnethon, Mercedes R.] Northwestern Univ, Feinberg Sch Med, Dept Prevent Med, Chicago, IL 60611 USA. [Liem, Robert I.] Ann & Robert H Lurie Childrens Hosp, Div Hematol Oncol & SCT, Chicago, IL USA. [Wilson, James G.] Univ Mississippi, Med Ctr, Dept Physiol & Biophys, Jackson, MS 39216 USA. [Sacks, David B.] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Jacobs, David R., Jr.] Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, Minneapolis, MN USA. [Carson, April P.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35294 USA. [Luo, Xi] Brown Univ, Sch Publ Hlth, Dept Biostat, Providence, RI 02912 USA. [Reiner, Alexander P.] Univ Washington, Sch Publ Hlth, Dept Epidemiol, Seattle, WA 98195 USA. [Naik, Rakhi P.] Johns Hopkins Univ, Dept Med, Div Hematol, Baltimore, MD USA. [Wu, Wen-Chih] Providence Vet Affairs Med Ctr, Ctr Innovat Long Term Serv & Support, Providence, RI USA. [Wu, Wen-Chih] Providence Vet Affairs Med Ctr, Div Cardiol, Providence, RI USA. [Liu, Simin; Wu, Wen-Chih] Brown Univ, Alpert Med Sch, Dept Med, Providence, RI 02912 USA. RP Lacy, ME (reprint author), Brown Univ, Sch Publ Hlth, Dept Epidemiol, 121 S Main St,POB G, Providence, RI 02906 USA. EM mary_lacy@brown.edu FU National Heart, Lung, and Blood Institute (NHLBI) [HHSN268201300025C, HHSN268201300026C, HHSN268201300027C, HHSN268201300028C, HHSN268201300029C, HHSN26820090004]; Intramural Research Program of the National Institute on Aging (NIA); NIA [AG0005]; NHLBI [AG0005, HHSN268201300046C, HHSN268201300047C, HHSN268201300048C, HHSN268201300049C, HHSN268201300050C, K08HL125100]; National Institute on Minority Health and Health Disparities; Center of Innovation in Long-Term Services and Support, Providence VA Medical Center; NIDDK; NIMHD; NIH; [F31DK105791]; [K01DK095928]; [R01HL107816] FX CARDIA is supported by contracts HHSN268201300025C, HHSN268201300026C, HHSN268201300027C, HHSN268201300028C, HHSN268201300029C, and HHSN26820090004 from the National Heart, Lung, and Blood Institute (NHLBI), the Intramural Research Program of the National Institute on Aging (NIA), and an intra-agency agreement between NIA and NHLBI (AG0005). The JHS is supported by contracts HHSN268201300046C, HHSN268201300047C, HHSN268201300048C, HHSN268201300049C, and HHSN268201300050C from the NHLBI and the National Institute on Minority Health and Health Disparities. Dr Lacy was supported by F31DK105791 (Drs Wu and Wellenius are cosponsors of this grant). Dr Wu was supported by the Center of Innovation in Long-Term Services and Support, Providence VA Medical Center. Dr Carson was supported by K01DK095928. Dr Sumner is supported by the intramural program of NIDDK and NIMHD. Dr Sacks is supported by the Intramural Research Program of the NIH. Dr Naik was supported by NHLBI grant K08HL125100. Joint calling of exome sequence data in JHS was supported by R01HL107816 to S. Kathiresan, who was the principal investigator of the ancillary study that obtained the SCT data on JHS participants. NR 35 TC 1 Z9 1 U1 1 U2 1 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 0098-7484 EI 1538-3598 J9 JAMA-J AM MED ASSOC JI JAMA-J. Am. Med. Assoc. PD FEB 7 PY 2017 VL 317 IS 5 BP 507 EP 515 DI 10.1001/jama.2016.21035 PG 9 WC Medicine, General & Internal SC General & Internal Medicine GA EJ9RN UT WOS:000393564200019 PM 28170479 ER PT J AU Thomason, ME Marusak, HA AF Thomason, Moriah E. Marusak, Hilary A. TI TOWARD UNDERSTANDING THE IMPACT OF TRAUMA ON THE EARLY DEVELOPING HUMAN BRAIN SO NEUROSCIENCE LA English DT Review DE adversity; maltreatment; abuse; neural; children; adolescents ID POSTTRAUMATIC-STRESS-DISORDER; EARLY-LIFE STRESS; NEURAL DEVELOPMENT DEPRIVATION; ADVERSE CHILDHOOD EXPERIENCES; DEFAULT NETWORK CONNECTIVITY; HUMAN CEREBRAL-CORTEX; HIPPOCAMPAL VOLUME; HOUSEHOLD DYSFUNCTION; MATERNAL-DEPRIVATION; FEAR CIRCUITRY AB Traumatic experiences early in life predispose animals and humans to later cognitive-behavioral, emotional, and somatic problems. In humans, traumatic experiences are strong predictors of psychiatric illness. A growing body of research has emphasized alterations in neurological structure and function that underscore phenotypic changes following trauma. However, results are mixed and imprecise. We argue that future translation of neurological findings to clinical practice will require: (1) discovery of neurobehavioral associations within a longitudinal context, (2) dissociation of trauma types and of trauma versus chronic stress, and (3) better localization of neural sequelae considerate of the fine resolution of neural circuitry. We provide a brief overview of early brain development and highlight the role of longitudinal research in unearthing brain-behavior relations in youth. We relay an emergent framework in which dissociable trauma types are hypothesized to impact distinct, rationally informed neural systems. In line with this, we discuss the long-standing challenge of separating effects of chronic stress and trauma, as these are often intertwined. We bring to light inconsistencies in localization of neural correlates of trauma, emphasizing results in medial prefrontal regions. We assert that more precise spatial brain localization will help to advance prevailing models of trauma pathways and inform future research. (C) 2016 IBRO. Published by Elsevier Ltd. All rights reserved. C1 [Thomason, Moriah E.; Marusak, Hilary A.] Wayne State Univ, Merrill Palmer Skillman Inst Child & Family Dev, Detroit, MI USA. [Thomason, Moriah E.] Wayne State Univ, Sch Med, Dept Pediat, Detroit, MI 48201 USA. [Thomason, Moriah E.] NICHD, Perinatol Res Branch, NIH, DHHS, Bethesda, MD USA. [Marusak, Hilary A.] Wayne State Univ, Sch Med, Dept Psychiat & Behav Neurosci, Detroit, MI USA. RP Thomason, ME (reprint author), Wayne State Univ, Merrill Palmer Skillman Inst, 71 E Ferry St, Detroit, MI 48009 USA. EM moriah@wayne.edu FU NIH National Institute of Environmental Health Sciences [P30 ES020957, R21 ES026022] FX This work was supported by the NIH National Institute of Environmental Health Sciences awards P30 ES020957 and R21 ES026022 (MET). NR 125 TC 1 Z9 1 U1 9 U2 9 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0306-4522 EI 1873-7544 J9 NEUROSCIENCE JI Neuroscience PD FEB 7 PY 2017 VL 342 SI SI BP 55 EP 67 DI 10.1016/j.neuroscience.2016.02.022 PG 13 WC Neurosciences SC Neurosciences & Neurology GA EJ0LC UT WOS:000392899100005 PM 26892294 ER PT J AU Kelleher, AM Peng, W Pru, JK Pru, CA DeMayo, FJ Spencer, TE AF Kelleher, Andrew M. Peng, Wang Pru, James K. Pru, Cindy A. DeMayo, Francesco J. Spencer, Thomas E. TI Forkhead box a2 (FOXA2) is essential for uterine function and fertility SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE uterus; gland; FOXA2; pregnancy; LIF ID LEUKEMIA INHIBITORY FACTOR; MOUSE UTERUS; EMBRYO IMPLANTATION; BLASTOCYST IMPLANTATION; PROGESTERONE-RECEPTOR; TRANSCRIPTION FACTORS; ENDOMETRIAL GLANDS; HYPERPLASIA FORMATION; BIOLOGICAL ROLES; EARLY-PREGNANCY AB Establishment of pregnancy is a critical event, and failure of embryo implantation and stromal decidualization in the uterus contribute to significant numbers of pregnancy losses in women. Glands of the uterus are essential for establishment of pregnancy inmice and likely in humans. Forkhead box a2 (FOXA2) is a transcription factor expressed specifically in the glands of the uterus and is a critical regulator of postnatal uterine gland differentiation in mice. In this study, we conditionally deleted FOXA2 in the adult mouse uterus using the lactotransferrin Cre (Ltf-Cre) model and in the neonatal mouse uterus using the progesterone receptor Cre (Pgr-Cre) model. The uteri of adult FOXA2-deleted mice were morphologically normal and contained glands, whereas the uteri of neonatal FOXA2-deleted mice were completely aglandular. Notably, adult FOXA2-deleted mice are completely infertile because of defects in blastocyst implantation and stromal cell decidualization. Leukemia inhibitory factor (LIF), a critical implantation factor of uterine gland origin, was not expressed during early pregnancy in adult FOXA2-deleted mice. Intriguingly, i.p. injections of LIF initiated blastocyst implantation in the uteri of both gland-containing and glandless adult FOXA2-deleted mice. Although pregnancy was rescued by LIF and was maintained to term in uterine gland-containing adult FOXA2-deleted mice, pregnancy failed by day 10 in neonatal FOXA2-deleted mice lacking uterine glands. These studies reveal a previously unrecognized role for FOXA2 in regulation of adult uterine function and fertility and provide original evidence that uterine glands and, by inference, their secretions play important roles in blastocyst implantation and stromal cell decidualization. C1 [Kelleher, Andrew M.; Peng, Wang; Spencer, Thomas E.] Univ Missouri, Dept Anim Sci, Columbia, MO 65211 USA. [Pru, James K.; Pru, Cindy A.] Washington State Univ, Dept Anim Sci, Pullman, WA 99164 USA. [DeMayo, Francesco J.] NIEHS, Pregnancy & Female Reprod Grp, POB 12233, Res Triangle Pk, NC 27709 USA. RP Spencer, TE (reprint author), Univ Missouri, Dept Anim Sci, Columbia, MO 65211 USA. EM spencerte@missouri.edu FU Eunice Kennedy Shriver National Institute of Child Health and Development [R21 HD076347] FX This work was supported by Grant R21 HD076347 from the Eunice Kennedy Shriver National Institute of Child Health and Development (to T.E.S.). NR 80 TC 1 Z9 1 U1 2 U2 2 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 7 PY 2017 VL 114 IS 6 BP E1018 EP E1026 DI 10.1073/pnas.1618433114 PG 9 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ7SH UT WOS:000393422200016 PM 28049832 ER PT J AU Perni, M Galvagnion, C Maltsev, A Meisl, G Muller, MBD Challa, PK Kirkegaard, JB Flagmeier, P Cohen, SIA Cascella, R Chen, SW Limboker, R Sormanni, P Heller, GT Aprile, FA Cremades, N Cecchi, C Chiti, F Nollen, EAA Knowles, TPJ Vendruscolo, M Bax, A Zasloff, M Dobson, CM AF Perni, Michele Galvagnion, Celine Maltsev, Alexander Meisl, Georg Mueller, Martin B. D. Challa, Pavan K. Kirkegaard, Julius B. Flagmeier, Patrick Cohen, Samuel I. A. Cascella, Roberta Chen, Serene W. Limboker, Ryan Sormanni, Pietro Heller, Gabriella T. Aprile, Francesco A. Cremades, Nunilo Cecchi, Cristina Chiti, Fabrizio Nollen, Ellen A. A. Knowles, Tuomas P. J. Vendruscolo, Michele Bax, Adriaan Zasloff, Michael Dobson, Christopher M. TI A natural product inhibits the initiation of alpha-synuclein aggregation and suppresses its toxicity SO PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA LA English DT Article DE Parkinson's disease; protein aggregation; amyloid formation; toxic oligomers; drug development ID PROTEIN MISFOLDING DISEASES; PARKINSONS-DISEASE; CAENORHABDITIS-ELEGANS; AMPLIFICATION STEPS; NMR-SPECTROSCOPY; SURFACE-CHARGE; LEWY BODIES; SQUALAMINE; BINDING; PHOSPHORYLATION AB The self-assembly of alpha-synuclein is closely associated with Parkinson's disease and related syndromes. We show that squalamine, a natural product with known anticancer and antiviral activity, dramatically affects alpha-synuclein aggregation in vitro and in vivo. We elucidate the mechanism of action of squalamine by investigating its interaction with lipid vesicles, which are known to stimulate nucleation, and find that this compound displaces alpha-synuclein from the surfaces of such vesicles, thereby blocking the first steps in its aggregation process. We also show that squalamine almost completely suppresses the toxicity of alpha-synuclein oligomers in human neuroblastoma cells by inhibiting their interactions with lipid membranes. We further examine the effects of squalamine in a Caenorhabditis elegans strain overexpressing alpha-synuclein, observing a dramatic reduction of alpha-synuclein aggregation and an almost complete elimination of muscle paralysis. These findings suggest that squalamine could be a means of therapeutic intervention in Parkinson's disease and related conditions. C1 [Perni, Michele; Galvagnion, Celine; Meisl, Georg; Mueller, Martin B. D.; Challa, Pavan K.; Flagmeier, Patrick; Cohen, Samuel I. A.; Chen, Serene W.; Limboker, Ryan; Sormanni, Pietro; Heller, Gabriella T.; Aprile, Francesco A.; Knowles, Tuomas P. J.; Vendruscolo, Michele; Dobson, Christopher M.] Univ Cambridge, Dept Chem, Cambridge CB2 1EW, England. [Perni, Michele; Mueller, Martin B. D.; Nollen, Ellen A. A.] Univ Groningen, Univ Med Ctr Groningen, European Res Inst Biol Aging, NL-9713 AV Groningen, Netherlands. [Maltsev, Alexander; Bax, Adriaan] NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA. [Kirkegaard, Julius B.] Univ Cambridge, Dept Appl Math & Theoret Phys, Cambridge CB3 0WA, England. [Cascella, Roberta; Cecchi, Cristina; Chiti, Fabrizio] Univ Florence, Dept Expt & Clin Biomed Sci, I-50134 Florence, Italy. [Cremades, Nunilo] Univ Zaragoza, Biocomputat & Complex Syst Phys Inst BIFI Joint U, Zaragoza 50018, Spain. [Zasloff, Michael] Georgetown Univ, MedStar Georgetown Transplant Inst, Sch Med, Washington, DC 20010 USA. RP Vendruscolo, M; Dobson, CM (reprint author), Univ Cambridge, Dept Chem, Cambridge CB2 1EW, England.; Bax, A (reprint author), NIDDK, Chem Phys Lab, NIH, Bethesda, MD 20892 USA.; Zasloff, M (reprint author), Georgetown Univ, Sch Med, MedStar Georgetown Transplant Inst, Washington, DC 20010 USA. EM mv245@cam.ac.uk; bax@nih.gov; maz5@georgetown.edu; cmd44@cam.ac.uk FU Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), US National Institutes of Health; Boehringer Ingelheim Fonds; European Research Council; Cambridge Centre for Misfolding Diseases; Agency for Science, Technology, and Research, Singapore FX The authors thank Alfonso de Simone, Sam Casford, Mandy Koopman, and Maarten C. Hardenberg for valuable advice and discussions. This work was supported by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK), US National Institutes of Health (A.M. and A.B.); by the Boehringer Ingelheim Fonds (P.F.); by a European Research Council starting grant (to M.B.D.M. and E.A.A.N.); and by The Cambridge Centre for Misfolding Diseases. N.C. thanks the Spanish Ministry of Economy and Competitiveness (RYC-2012-12068). S.W.C. thanks the Agency for Science, Technology, and Research, Singapore for support. NR 55 TC 2 Z9 2 U1 18 U2 18 PU NATL ACAD SCIENCES PI WASHINGTON PA 2101 CONSTITUTION AVE NW, WASHINGTON, DC 20418 USA SN 0027-8424 J9 P NATL ACAD SCI USA JI Proc. Natl. Acad. Sci. U. S. A. PD FEB 7 PY 2017 VL 114 IS 6 BP E1009 EP E1017 DI 10.1073/pnas.1610586114 PG 9 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ7SH UT WOS:000393422200015 PM 28096355 ER PT J AU Tebebi, PA Kim, SJ Williams, RA Milo, B Frenkel, V Burks, SR Frank, JA AF Tebebi, Pamela A. Kim, Saejeong J. Williams, Rashida A. Milo, Blerta Frenkel, Victor Burks, Scott R. Frank, Joseph A. TI Improving the therapeutic efficacy of mesenchymal stromal cells to restore perfusion in critical limb ischemia through pulsed focused ultrasound SO SCIENTIFIC REPORTS LA English DT Article ID PERIPHERAL ARTERIAL-DISEASE; ENDOTHELIAL PROGENITOR CELLS; ACUTE HINDLIMB ISCHEMIA; BONE-MARROW-CELLS; STEM-CELLS; SKELETAL-MUSCLE; MOUSE MODEL; ANGIOGENESIS; TRANSPLANTATION; MICE AB Mesenchymal stem cells (MSC) are promising therapeutics for critical limb ischemia (CLI). Mechanotransduction from pulsed focused ultrasound (pFUS) upregulates local chemoattractants to enhance homing of intravenously (IV)-infused MSC and improve outcomes. This study investigated whether pFUS exposures to skeletal muscle would improve local homing of iv-infused MSCs and their therapeutic efficacy compared to iv-infused MSCs alone. CLI was induced by external iliac arterial cauterization in 10-12-month-old mice. pFUS/MSC treatments were delayed 14 days, when surgical inflammation subsided. Mice were treated with iv-saline, pFUS alone, IV-MSC, or pFUS and IV-MSC. Proteomic analyses revealed pFUS upregulated local chemoattractants and increased MSC tropism to CLI muscle. By 7 weeks post-treatment, pFUS + MSC significantly increased perfusion and CD31 expression, while reducing fibrosis compared to saline. pFUS or MSC alone reduced fibrosis, but did not increase perfusion or CD31. Furthermore, MSCs homing to pFUS-treated CLI muscle expressed more vascular endothelial growth factor (VEGF) and interleukin-10 (IL-10) than MSCs homing to non-pFUS-treated muscle. pFUS + MSC improved perfusion and vascular density in this clinically-relevant CLI model. The molecular effects of pFUS increased both MSC homing and MSC production of VEGF and IL-10, suggesting microenvironmental changes from pFUS also increased potency of MSCs in situ to further enhance their efficacy. C1 [Tebebi, Pamela A.; Kim, Saejeong J.; Williams, Rashida A.; Milo, Blerta; Burks, Scott R.; Frank, Joseph A.] NIH, Ctr Clin, Radiol & Imaging Sci Dept, Frank Lab, Bethesda, MD 20892 USA. [Tebebi, Pamela A.] Catholic Univ Amer, Dept Biomed Engn, Washington, DC 20064 USA. [Frenkel, Victor] Univ Maryland, Sch Med, Dept Diagnost Radiol & Nucl Med, Baltimore, MD 21201 USA. [Frank, Joseph A.] Natl Inst Biomed Imaging & Bioengn, NIH, Bethesda, MD USA. RP Frank, JA (reprint author), NIH, Ctr Clin, Radiol & Imaging Sci Dept, Frank Lab, Bethesda, MD 20892 USA.; Frank, JA (reprint author), Natl Inst Biomed Imaging & Bioengn, NIH, Bethesda, MD USA. EM jfrank@helix.nih.gov FU Intramural Research Program of the National Institutes of Health Clinical Center; National Institute of Biomedical Imaging and Bioengineering FX This research was funded by the Intramural Research Program of the National Institutes of Health Clinical Center and the National Institute of Biomedical Imaging and Bioengineering. NR 52 TC 0 Z9 0 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 7 PY 2017 VL 7 AR 41550 DI 10.1038/srep41550 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ8VR UT WOS:000393505400001 PM 28169278 ER PT J AU Staunton, JR Blehm, B Devine, A Tanner, K AF Staunton, Jack R. Blehm, Ben Devine, Alexus Tanner, Kandice TI In situ calibration of position detection in an optical trap for active microrheology in viscous materials SO OPTICS EXPRESS LA English DT Article ID FOCAL-PLANE INTERFEROMETRY; MECHANICAL-PROPERTIES; EX-VIVO; TWEEZERS; FORCE; COLLAGEN; DISPLACEMENTS; SPECTROSCOPY; ELASTICITY; MICROSCOPY AB In optical trapping, accurate determination of forces requires calibration of the position sensitivity relating displacements to the detector readout via the V-nm conversion factor (beta). Inaccuracies in measured trap stiffness (k) and dependent calculations of forces and material properties occur if beta is assumed to be constant in optically heterogeneous materials such as tissue, necessitating calibration at each probe. For solid-like samples in which probes are securely positioned, calibration can be achieved by moving the sample with a nanopositioning stage and stepping the probe through the detection beam. However, this method may be applied to samples only under select circumstances. Here, we introduce a simple method to find a in any material by steering the detection laser beam while the probe is trapped. We demonstrate the approach in the yolk of living Danio rerio (zebrafish) embryos and measure the viscoelastic properties over an order of magnitude of stress-strain amplitude. (C) 2017 Optical Society of America C1 [Staunton, Jack R.; Blehm, Ben; Devine, Alexus; Tanner, Kandice] NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Tanner, K (reprint author), NCI, Cell Biol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM kandice.tanner@nih.gov FU Intramural Research Program of the National Institutes of Health, the National Cancer Institute FX This effort was supported by the Intramural Research Program of the National Institutes of Health, the National Cancer Institute. NR 54 TC 0 Z9 0 U1 0 U2 0 PU OPTICAL SOC AMER PI WASHINGTON PA 2010 MASSACHUSETTS AVE NW, WASHINGTON, DC 20036 USA SN 1094-4087 J9 OPT EXPRESS JI Opt. Express PD FEB 6 PY 2017 VL 25 IS 3 BP 1746 EP 1761 DI 10.1364/OE.25.001746 PG 16 WC Optics SC Optics GA EP3XI UT WOS:000397314600013 ER PT J AU Cahan, A Cimino, JJ AF Cahan, Amos Cimino, James J. TI Improving precision medicine using individual patient data from trials SO CANADIAN MEDICAL ASSOCIATION JOURNAL LA English DT Article ID RANDOMIZED CONTROLLED-TRIALS; EXTERNAL VALIDITY; CLINICAL-PRACTICE; SUBGROUP ANALYSIS; GUIDELINES; EXPERIENCE AB Our first commitment as clinicians is to our patients as individuals. This understanding lies at the heart of the precision medicine initiative, which aims to customize treatments based not only on a patient's clinical picture but also on their genetic, demographic and environmental profile. (1) Clinical trials are rigid by design, typically assessing the effect of one intervention. In a reality of complex patients and polypharmacy, clinical trials cannot provide all the answers that clinicians are seeking. It is widely accepted that the uniquely complex health care environment requires the implementation at scale of informatics tools to help physicians navigate through the huge volume of medical data, and technology is being developed and refined to support this need. Whereas data from electronic health records are routinely reused in research to generate evidence-based recommendations for patient care, databases of clinical trial populations are not. The potential of individual-level data of participants in completed clinical trials to facilitate evidence-personalized treatment decisions has not yet been fully realized. C1 [Cahan, Amos] IBM TJ Watson Res Ctr, Yorktown Hts, NY 10598 USA. [Cimino, James J.] NIH, Natl Lib Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Cimino, James J.] Univ Alabama Birmingham, Sch Med, Inst Informat, Birmingham, AL USA. RP Cahan, A (reprint author), IBM TJ Watson Res Ctr, Yorktown Hts, NY 10598 USA. EM acahan@us.ibm.com FU Research Participation Program for the Centers for Disease Control and Prevention; National Center for Environmental Health; Division of Laboratory Sciences (DLS); National Library of Medicine and the National Institues of Health (NIH) Clinical Center; Informatics Institute at the University of Alabama School of Medicine, Birmingham FX Amos Cahan was supported by an appointment to the Research Participation Program for the Centers for Disease Control and Prevention, National Center for Environmental Health, Division of Laboratory Sciences (DLS),administered by the Oak Ridge Institute for Science and Education through an agreement between the US Department of Energy and DLS. Amos Cahan is currently employed by IBM. James Cimino was supported in part by research funds from the National Library of Medicine and the National Institues of Health (NIH) Clinical Center, and is currently supported by the Informatics Institute at the University of Alabama School of Medicine, Birmingham. NR 19 TC 0 Z9 0 U1 0 U2 0 PU CMA-CANADIAN MEDICAL ASSOC PI OTTAWA PA 1867 ALTA VISTA DR, OTTAWA, ONTARIO K1G 5W8, CANADA SN 0820-3946 EI 1488-2329 J9 CAN MED ASSOC J JI Can. Med. Assoc. J. PD FEB 6 PY 2017 VL 189 IS 5 BP E204 EP E207 DI 10.1503/cmaj.160267 PG 4 WC Medicine, General & Internal SC General & Internal Medicine GA EM7RF UT WOS:000395509300005 PM 27573743 ER PT J AU Vijayakumar, P Hoyer, A Nelson, RG Brinks, R Pavkov, ME AF Vijayakumar, Pavithra Hoyer, Annika Nelson, Robert G. Brinks, Ralph Pavkov, Meda E. TI Estimation of chronic kidney disease incidence from prevalence and mortality data in American Indians with type 2 diabetes SO PLOS ONE LA English DT Article ID PIMA-INDIANS; RISK-FACTORS; MELLITUS; ESRD; MICROALBUMINURIA; ALBUMINURIA; POPULATION; ANTIBODIES; REMISSION; EQUATION AB The objective was to estimate chronic kidney disease (CKD) incidence rates from prevalence and mortality data, and compare the estimates with observed (true) incidence rates in a well-characterized population with diabetes. Pima Indians aged 20 years and older with type 2 diabetes were followed from 1982 through 2007. CKD was defined by estimated GFR (eGFR) <60 ml/min/1.72 m(2) or albumin-to-creatinine ratio (ACR) >= 30 mg/g. True CKD incidence and mortality rates were computed for the whole study period, and prevalence for the intervals 1982-1994 and 1995-2007. Estimated age-sex stratified CKD incidence rates were computed using illness-death models of the observed prevalences, and of the whole period mortality rate ratio of CKD to non-CKD persons. Among 1201 participants, 616 incident events of CKD occurred during a median follow-up of 5.6 years. Observed CKD prevalence was 56.9% (95%X153.7-60.0) and 48.0% (95%X145.2-50.8) in women; 54.0% (95% CI 49.9-58.1) and 49.6% (95%C 46.0-53.3) in men, across the two periods. Mortality rate was 2.5 (95%CI 11.9-3.3) times as high in women with CKD and 1.6 (95%Cl 1.3-2.1) times as high in men with CKD, compared to women or men without CKD. In women, estimated CKD incidence increased linearly from 25.6 (95%CI14.2-53.0) to 128.6 (95%CI177.1-196.6) with each 5-year age group up to 69 years, and to 99.8 (95% CI 38.7-204.7) at age >= 70. In men, estimated CKD incidence increased form 28.5 (95% CI13.8-71.2) at age 20-24 years to 118.7 (95%CI123.6-336.7) at age >= 70. Age-sex-stratified estimated incidence reflected the magnitude and directional trend of the true incidence and were similar to the true incidence rates (p>0.05 for difference) except for age 20-24 in women (p = 0.008) and age 2529 in men (p = 0.002). In conclusion, the estimated and observed incidence rates of CKD agree well over 25 years of observation in this well characterized population with type 2 diabetes. C1 [Vijayakumar, Pavithra; Nelson, Robert G.] NIDDK, NIH, Phoenix, AZ USA. [Hoyer, Annika; Brinks, Ralph] German Diabet Ctr Duesseldorf, Inst Epidemiol & Biometry, Dusseldorf, Germany. [Pavkov, Meda E.] Ctr Dis Control & Prevent, Div Diabet Translat, Atlanta, GA 30333 USA. [Pavkov, Meda E.] Ctr Dis Control & Prevent, Atlanta, GA 30333 USA. RP Pavkov, ME (reprint author), Ctr Dis Control & Prevent, Div Diabet Translat, Atlanta, GA 30333 USA.; Pavkov, ME (reprint author), Ctr Dis Control & Prevent, Atlanta, GA 30333 USA. EM mpavkov@cdc.gov OI Pavkov, Meda/0000-0002-6203-1772 FU Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases FX This work was supported in part by the Intramural Research Program of the National Institute of Diabetes and Digestive and Kidney Diseases. The authors received no specific funding for this work. There was no additional external funding received for this study. NR 27 TC 0 Z9 0 U1 1 U2 1 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 6 PY 2017 VL 12 IS 2 AR e0171027 DI 10.1371/journal.pone.0171027 PG 11 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EK1QH UT WOS:000393700100020 PM 28166298 ER PT J AU O'Neal, TJ Friend, DM Guo, JE Hall, KD Kravitz, AV AF O'Neal, Timothy J. Friend, Danielle M. Guo, Juen Hall, Kevin D. Kravitz, Alexxai V. TI Increases in Physical Activity Result in Diminishing Increments in Daily Energy Expenditure in Mice SO CURRENT BIOLOGY LA English DT Article ID WEIGHT-LOSS; COMPENSATORY RESPONSES; VOLUNTARY EXERCISE; SEDENTARY TIME; OBESITY; DIET; INTERVENTIONS; TEMPERATURE; LOCOMOTION; BALANCE AB Exercise is a common component of weight loss strategies, yet exercise programs are associated with surprisingly small changes in body weight [1-4]. This may be due in part to compensatory adaptations, in which calories expended during exercise are counteracted by decreases in other aspects of energy expenditure [1, 5-10]. Here we examined the relationship between a rodent model of voluntary exercise wheel running and total daily energy expenditure. Use of a running wheel for 3 to 7 days increased daily energy expenditure, resulting in a caloric deficit of similar to 1 kcal/day; however, total daily energy expenditure remained stable after the first week of wheel access, despite further increases in wheel use. We hypothesized that compensatory mechanisms accounted for the lack of increase in daily energy expenditure after the first week. Supporting this idea, we observed a decrease in off-wheel ambulation when mice were using the wheels, indicating behavioral compensation. Finally, we asked whether individual variation in wheel use within a group of mice would be associated with different levels of daily energy expenditure. Despite a large variation in wheel running, we did not observe a significant relationship between the amount of daily wheel running and total daily energy expenditure or energy intake across mice. Together, our experiments support a model in which the transition from sedentary to light activity is associated with an increase in daily energy expenditure, but further increases in physical activity produce diminishingly small increments in daily energy expenditure. C1 [O'Neal, Timothy J.; Friend, Danielle M.; Kravitz, Alexxai V.] NIDDK, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA. [O'Neal, Timothy J.; Guo, Juen; Hall, Kevin D.] NIDDK, Lab Biol Modeling, NIH, Bethesda, MD 20892 USA. [Kravitz, Alexxai V.] NIDA, NIH, Baltimore, MD 21224 USA. RP Kravitz, AV (reprint author), NIDDK, Diabet Endocrinol & Obes Branch, NIH, Bethesda, MD 20892 USA.; Kravitz, AV (reprint author), NIDA, NIH, Baltimore, MD 21224 USA. EM lex.kravitz@nih.gov FU Intramural Research Program of the NIH, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) [1ZIADK075096] FX This research was supported by the Intramural Research Program of the NIH, The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK; grant no. 1ZIADK075096). We would like to thank the Mouse Metabolism Core at the National Institute of Diabetes and Digestive and Kidney Diseases for assistance with indirect calorimetry experiments. We thank members of the A.V.K. lab, Marc Reitman, and Oksana Gavrilova for helpful discussions and insight on the manuscript. NR 38 TC 0 Z9 0 U1 2 U2 2 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0960-9822 EI 1879-0445 J9 CURR BIOL JI Curr. Biol. PD FEB 6 PY 2017 VL 27 IS 3 BP 423 EP 430 DI 10.1016/j.cub.2016.12.009 PG 8 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EK1ZH UT WOS:000393726300029 PM 28111149 ER PT J AU Law, PJ Berndt, SI Speedy, HE Camp, NJ Sava, GP Skibola, CF Holroyd, A Joseph, V Sunter, NJ Nieters, A Bea, S Monnereau, A Martin-Garcia, D Goldin, LR Clot, G Teras, LR Quintela, I Birmann, BM Jayne, S Cozen, W Majid, A Smedby, KE Lan, Q Dearden, C Brooks-Wilson, AR Hall, AG Purdue, MP Mainou-Fowler, T Vajdic, CM Jackson, GH Cocco, P Marr, H Zhang, YW Zheng, TZ Giles, GG Lawrence, C Call, TG Liebow, M Melbye, M Glimelius, B Mansouri, L Glenn, M Curtin, K Diver, WR Link, BK Conde, L Bracci, PM Holly, EA Jackson, RD Tinker, LF Benavente, Y Boffetta, P Brennan, P Maynadie, M McKay, J Albanes, D Weinstein, S Wang, ZM Caporaso, NE Morton, LM Severson, RK Riboli, E Vineis, P Vermeulen, RCH Southey, MC Milne, RL Clavel, J Topka, S Spinelli, JJ Kraft, P Ennas, MG Summerfield, G Ferri, GM Harris, RJ Miligi, L Pettitt, AR North, KE Allsup, DJ Fraumeni, JF Bailey, JR Offit, K Pratt, G Hjalgrim, H Pepper, C Chanock, SJ Fegan, C Rosenquist, R de Sanjose, S Carracedo, A Dyer, MJS Catovsky, D Campo, E Cerhan, JR Allan, JM Rothman, N Houlston, R Slager, SL AF Law, Phillip J. Berndt, Sonja I. Speedy, Helen E. Camp, Nicola J. Sava, Georgina P. Skibola, Christine F. Holroyd, Amy Joseph, Vijai Sunter, Nicola J. Nieters, Alexandra Bea, Silvia Monnereau, Alain Martin-Garcia, David Goldin, Lynn R. Clot, Guillem Teras, Lauren R. Quintela, Ines Birmann, Brenda M. Jayne, Sandrine Cozen, Wendy Majid, Aneela Smedby, Karin E. Lan, Qing Dearden, Claire Brooks-Wilson, Angela R. Hall, Andrew G. Purdue, Mark P. Mainou-Fowler, Tryfonia Vajdic, Claire M. Jackson, Graham H. Cocco, Pierluigi Marr, Helen Zhang, Yawei Zheng, Tongzhang Giles, Graham G. Lawrence, Charles Call, Timothy G. Liebow, Mark Melbye, Mads Glimelius, Bengt Mansouri, Larry Glenn, Martha Curtin, Karen Diver, W. Ryan Link, Brian K. Conde, Lucia Bracci, Paige M. Holly, Elizabeth A. Jackson, Rebecca D. Tinker, Lesley F. Benavente, Yolanda Boffetta, Paolo Brennan, Paul Maynadie, Marc McKay, James Albanes, Demetrius Weinstein, Stephanie Wang, Zhaoming Caporaso, Neil E. Morton, Lindsay M. Severson, Richard K. Riboli, Elio Vineis, Paolo Vermeulen, Roel C. H. Southey, Melissa C. Milne, Roger L. Clavel, Jacqueline Topka, Sabine Spinelli, John J. Kraft, Peter Ennas, Maria Grazia Summerfield, Geoffrey Ferri, Giovanni M. Harris, Robert J. Miligi, Lucia Pettitt, Andrew R. North, Kari E. Allsup, David J. Fraumeni, Joseph F., Jr. Bailey, James R. Offit, Kenneth Pratt, Guy Hjalgrim, Henrik Pepper, Chris Chanock, Stephen J. Fegan, Chris Rosenquist, Richard de Sanjose, Silvia Carracedo, Angel Dyer, Martin J. S. Catovsky, Daniel Campo, Elias Cerhan, James R. Allan, James M. Rothman, Nathanial Houlston, Richard Slager, Susan L. TI Genome-wide association analysis implicates dysregulation of immunity genes in chronic lymphocytic leukaemia SO NATURE COMMUNICATIONS LA English DT Article ID TRANSCRIPTION FACTORS; COMMON VARIATION; BREAST-CANCER; RISK; DISEASE; METAANALYSIS; IMPUTATION; CHROMATIN; VARIANTS; LOCI AB Several chronic lymphocytic leukaemia (CLL) susceptibility loci have been reported; however, much of the heritable risk remains unidentified. Here we perform a meta-analysis of six genome-wide association studies, imputed using a merged reference panel of 1,000 Genomes and UK10K data, totalling 6,200 cases and 17,598 controls after replication. We identify nine risk loci at 1p36.11 (rs34676223, P = 5.04 X 10 (-) (13)), 1q42.13 (rs41271473, P = 1.06 X 10 (-) (10)), 4q24 (rs71597109, P = 1.37 X 10 (-) (10)), 4q35.1 (rs57214277, P = 3.69 X 10 (-) (8)), 6p21.31 (rs3800461, P = 1.97 X 10 (-) (8)), 11q23.2 (rs61904987, P = 2.64 X 10 (-) (11)), 18q21.1 (rs1036935, P = 3.27 X 10 (-) (8)), 19p13.3 (rs7254272, P = 4.67 X 10 (-) (8)) and 22q13.33 (rs140522, P = 2.70 X 10 (-) (9)). These new and established risk loci map to areas of active chromatin and show an over-representation of transcription factor binding for the key determinants of B-cell development and immune response. C1 [Law, Phillip J.; Speedy, Helen E.; Sava, Georgina P.; Holroyd, Amy; Houlston, Richard] Inst Canc Res, Div Genet & Epidemiol, London SW7 3RP, England. [Berndt, Sonja I.; Goldin, Lynn R.; Lan, Qing; Purdue, Mark P.; Albanes, Demetrius; Weinstein, Stephanie; Caporaso, Neil E.; Morton, Lindsay M.; Fraumeni, Joseph F., Jr.; Chanock, Stephen J.; Rothman, Nathanial] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Camp, Nicola J.; Glenn, Martha; Curtin, Karen] Univ Utah, Sch Med, Dept Internal Med, Huntsman Canc Inst, Salt Lake City, UT 84112 USA. [Skibola, Christine F.; Conde, Lucia] Univ Alabama Birmingham, Dept Epidemiol, Sch Publ Hlth, Birmingham, AL 35233 USA. [Skibola, Christine F.; Conde, Lucia] Univ Alabama Birmingham, Ctr Comprehens Canc, Birmingham, AL 35233 USA. [Joseph, Vijai; Topka, Sabine; Offit, Kenneth] Mem Sloan Kettering Canc Ctr, Dept Med, New York, NY 10065 USA. [Sunter, Nicola J.; Hall, Andrew G.; Marr, Helen; Allan, James M.] Newcastle Univ, Northern Inst Canc Res, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England. [Nieters, Alexandra] Univ Med Ctr Freiburg, Ctr Chron Immunodeficiency, D-79108 Freiburg, Baden Wurttembe, Germany. [Bea, Silvia; Martin-Garcia, David; Clot, Guillem; Campo, Elias] Hosp Clin Barcelona, Inst Invest Biomed August Pi ISunyer IDIBAPS, Barcelona 08036, Spain. [Monnereau, Alain] Inserm U1219 EPICENE, Inst Bergonie, Registre Hemopathies Malignes Gironde, F-33076 Bordeaux, France. [Monnereau, Alain; Clavel, Jacqueline] Ctr Res Epidemiol & Stat Sorbonne Paris Cite CRES, INSERM, Epidemiol Childhood & Adolescent Canc Grp, F-94807 Paris, France. [Monnereau, Alain; Clavel, Jacqueline] Univ Paris 05, F-75270 Paris, France. [Teras, Lauren R.; Diver, W. Ryan] Amer Canc Soc, Epidemiol Res Program, Atlanta, GA 30303 USA. [Quintela, Ines; Carracedo, Angel] Univ Santiago de Compostela, Grp Med Xenom, Ctr Nacl Genotipado CeGen ISCIII PRB2, CIBERER, Santiago De Compostela 15782, Spain. [Birmann, Brenda M.] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA. [Birmann, Brenda M.] Harvard Med Sch, Boston, MA 02115 USA. [Jayne, Sandrine; Majid, Aneela; Dyer, Martin J. S.] Univ Leicester, Ernest & Helen Scott Haematol Res Inst, Leicester LE2 7LX, Leics, England. [Cozen, Wendy] Univ Southern Calif, USC Keck Sch Med, Dept Prevent Med, Los Angeles, CA 90033 USA. [Cozen, Wendy] Univ Southern Calif, USC Keck Sch Med, Norris Comprehens Canc Ctr, Los Angeles, CA 90033 USA. [Smedby, Karin E.] Karolinska Inst, Clin Epidemiol Unit, Dept Med Solna, Hematol Ctr,Karolinsak Univ Hosp, S-17176 Stockholm, Sweden. [Dearden, Claire] Royal Marsden NHS Fdn Trust, Sutton SM2 5PT, Surrey, England. [Brooks-Wilson, Angela R.] BC Canc Agcy, Genome Sci Ctr, Vancouver, BC V5Z 1L3, Canada. [Brooks-Wilson, Angela R.] Simon Fraser Univ, Dept Biomed Physiol & Kinesiol, Burnaby, BC V5A 1S6, Canada. [Mainou-Fowler, Tryfonia] Newcastle Univ, Sch Med, Haematol Sci, Newcastle Upon Tyne NE2 4HH, Tyne & Wear, England. [Vajdic, Claire M.] Univ New South Wales, Ctr Big Data Res Hlth, Sydney, NSW 2052, Australia. [Jackson, Graham H.] Royal Victoria Infirm, Dept Haematol, Newcastle Upon Tyne NE1 4LP, Tyne & Wear, England. [Cocco, Pierluigi] Univ Cagliari Monserrato, Dept Publ Hlth Clin & Mol Med, I-09042 Cagliari, Italy. [Zhang, Yawei; Zheng, Tongzhang] Yale Sch Publ Hlth, Dept Environm Hlth Sci, New Haven, CT 06520 USA. [Giles, Graham G.; Milne, Roger L.] Canc Council Victoria, Canc Epidemiol Ctr, Melbourne, Vic 3004, Australia. [Giles, Graham G.; Milne, Roger L.] Univ Melbourne, Melbourne Sch Populat & Global Hlth, Ctr Epidemiol & Biostat, Melbourne, Vic 3010, Australia. [Lawrence, Charles] Westat Corp, Rockville, MD 20850 USA. [Call, Timothy G.] Mayo Clin, Div Hematol, Rochester, MN 55905 USA. [Liebow, Mark] Mayo Clin, Dept Med, Rochester, MN 55905 USA. [Melbye, Mads; Hjalgrim, Henrik] Statens Serum Inst, Div Hlth Surveillance & Res, Dept Epidemiol Res, DK-2300 Copenhagen, Denmark. [Melbye, Mads] Stanford Univ, Dept Med, Sch Med, Stanford, CA 94305 USA. [Glimelius, Bengt; Mansouri, Larry; Rosenquist, Richard] Uppsala Univ, Dept Immunol Genet & Pathol, Sci Life Lab, S-75105 Uppsala, Sweden. [Link, Brian K.] Univ Iowa, Dept Internal Med, Carver Coll Med, Iowa City, IA 52242 USA. [Bracci, Paige M.; Holly, Elizabeth A.] Univ Calif San Francisco, Dept Epidemiol & Biostat, San Francisco, CA 94118 USA. [Jackson, Rebecca D.] Ohio State Univ, Div Endocrinol Diabet & Metab, Columbus, OH 43210 USA. [Tinker, Lesley F.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, Seattle, WA 98117 USA. [Benavente, Yolanda] Catalan Inst Oncol IDIBELL, Canc Epidemiol Res Programme, Barcelona 08908, Spain. [Benavente, Yolanda] CIBER Epidemiol & Salud Publ CIBERESP, Barcelona 08036, Spain. [Boffetta, Paolo; de Sanjose, Silvia] Icahn Sch Med Mt Sinai, Tisch Canc Inst, New York, NY 10029 USA. [Brennan, Paul; McKay, James; de Sanjose, Silvia] Int Agcy Res Canc, F-69372 Lyon, France. [Maynadie, Marc] Univ Burgundy, Registre Hemopathies Malignes Cote dOr, F-21070 Dijon, France. [Maynadie, Marc] Dijon Univ Hosp, F-21070 Dijon, France. [Wang, Zhaoming] St Jude Childrens Res Hosp, Dept Computat Biol, 332 N Lauderdale St, Memphis, TN 38105 USA. [Severson, Richard K.] Wayne State Univ, Dept Family Med & Publ Hlth Sci, Detroit, MI 48201 USA. [Riboli, Elio] Imperial Coll London, Sch Publ Hlth, London W2 1PG, England. [Vineis, Paolo] Imperial Coll London, Sch Publ Hlth, MRC PHE Ctr Environm & Hlth, London W2 1PG, England. [Vineis, Paolo] Human Genet Fdn, I-10126 Turin, Italy. [Vermeulen, Roel C. H.] Univ Utrecht, Inst Risk Assessment Sci, NL-3508 TD Utrecht, Netherlands. [Vermeulen, Roel C. H.] Univ Med Ctr Utrecht, Julius Ctr Hlth Sci & Primary Care, NL-3584 CX Utrecht, Netherlands. [Southey, Melissa C.] Univ Melbourne, Dept Pathol, Genet Epidemiol Lab, Melbourne, Vic 3010, Australia. [Spinelli, John J.] BC Canc Agcy, Canc Control Res, Vancouver, BC V5Z 1L3, Canada. [Spinelli, John J.] Univ British Columbia, Sch Populat & Publ Hlth, Vancouver, BC V6T 1Z3, Canada. [Kraft, Peter] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA 02115 USA. [Kraft, Peter] Harvard TH Chan Sch Publ Hlth, Dept Biostat, Boston, MA 02115 USA. [Ennas, Maria Grazia] Univ Cagliari, Dept Biomed Sci, I-09042 Cagliari, Italy. [Summerfield, Geoffrey] Queen Elizabeth Hosp, Dept Haematol, Gateshead NE9 6SX, England. [Ferri, Giovanni M.] Univ Bari, Interdisciplinary Dept Med, I-70124 Bari, Italy. [Harris, Robert J.; Pettitt, Andrew R.] Univ Liverpool, Dept Mol & Clin Canc Med, Liverpool L69 3BX, Merseyside, England. [Miligi, Lucia] Canc Prevent & Res Inst ISPO, Environm & Occupat Epidemiol Unit, I-50139 Florence, Italy. [North, Kari E.] Univ North Carolina Chapel Hill, Dept Epidemiol, Chapel Hill, NC 27599 USA. [North, Kari E.] Univ North Carolina Chapel Hill, Carolina Ctr Genome Sci, Chapel Hill, NC 27599 USA. [Allsup, David J.; Bailey, James R.] Hull & East Yorkshire NHS Trust, Castle Hill Hosp, Queens Ctr Haematol & Oncol, Cottingham HU16 5JQ, England. [Pratt, Guy] Birmingham Heartlands Hosp, Dept Haematol, Birmingham B9 5SS, W Midlands, England. [Pepper, Chris] Cardiff Univ, Sch Med, Div Canc & Genet, Cardiff CF14 4XN, S Glam, Wales. [Fegan, Chris] Cardiff & Vale Natl Hlth Serv Trust, Heath Pk, Cardiff CF14 4XW, S Glam, Wales. [Carracedo, Angel] King Abdulaziz Univ, CEGMR, Jeddah 21589, Saudi Arabia. [Catovsky, Daniel] Inst Canc Res, Div Mol Pathol, London SW7 3RP, England. [Campo, Elias] Univ Barcelona, Unitat Hematol, Hosp Clin, IDIBAPS, E-08036 Barcelona, Spain. [Cerhan, James R.; Slager, Susan L.] Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA. RP Houlston, R (reprint author), Inst Canc Res, Div Genet & Epidemiol, London SW7 3RP, England.; Slager, SL (reprint author), Mayo Clin, Dept Hlth Sci Res, Rochester, MN 55905 USA. EM richard.houlston@icr.ac.uk; slager.susan@mayo.edu OI Joseph, Vijai/0000-0002-7933-151X; Allsup, David/0000-0001-6159-6109; Houlston, Richard/0000-0002-5268-0242 FU United Kingdom, Bloodwise [LRF05001, LRF06002, LRF13044]; Cancer Research UK (Bobby Moore Fund) [C1298/A8362]; Arbib Fund; Institute of Cancer Research; intramural programme of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health; Intramural Research Program of the NIH; National Cancer Institute; U.S. Public Health Service from the National Cancer Institute, Department of Health and Human Services [N01 CN 45165, N01 RC 45035, N01 RC 37004, HHSN261201000006C]; American Cancer Society; Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics; Centers for Disease Control and Prevention National Program of Cancer Registries; National Cancer Institute Surveillance Epidemiology and End Results program; EPIC-Coordinated Action [006438, SP23-CT-2005-006438]; EpiLymph-European Commission [QLK4-CT-2000-00422, FOOD-CT-2006-023103]; Spanish Ministry of Health [PI11/01810, PI14/01219, RCESP C03/09, RTICESP C03/10, RTIC RD06/0020/0095, CIBERESP]; Marato de TV3 Foundation [051210]; Agencia de Gestiod AjutsUniversitarisi de Recerca-Generalitat de Catalunya [2014SRG756]; NIH [NO1-CO-12400]; Federal Office for Radiation Protection [StSch4261, StSch4420]; Jose Carreras Leukemia Foundation [DJCLS-R12/23]; MH CZ-DRO (MMCI) [00209805]; RECAMO [CZ.1.05/2.1.00/03.0101]; Fondation de France; Association de Recherche Contre le Cancer; Leukemia and Lymphoma Society Career Development Award; Bernstein Family Fund for Leukemia and Lymphoma Research; National Institutes of Health [K08CA134919, CA167552, CA149445, CA098122, CA186107, CA87969, CA49449]; National Center for Advancing Translational Science [UL1 TR000135]; Iowa-Mayo SPORE-NCI Specialized Programs of Research Excellence (SPORE) in Human Cancer [P50 CA97274]; Italian GxE-Italian Association for Cancer Research (AIRC) [11855]; VicHealth; Cancer Council Victoria; Australian NHMRC [209057, 251553, 504711]; Barbara K. Lipman Lymphoma Research Fund [74419]; NCI-SEER-Intramural Research Program of the National Cancer Institute, National Institutes of Health and Public Health Service [N01-PC-65064, N01-PC-67008, N01-PC-67009, N01-PC-67010, N02-PC-71105]; Australian National Health and Medical Research Council [990920]; Cancer Council NSW; University of Sydney Faculty of Medicine; Intramural Research Program of the National Cancer Institute; Division of Cancer Prevention, National Cancer Institute, NIH, DHHS; Swedish Cancer Society [02 6661]; NCI, National Institutes of Health [CA1046282, CA154643, CA45614, CA89745, CA87014]; California Department of Health Services [103885]; National Cancer Institute's Surveillance, Epidemiology and End Results Program [HHSN261201000140C, HHSN261201000035C, HHSN261201000034C]; Centers for Disease Control and Prevention's National Program of Cancer Registries [1U58 DP000807-01]; HCI Comprehensive Cancer Center Support grant [P30 CA42014]; NIH from the National Cancer Institute SEER Program [HHSN261201000026C]; Utah State Department of Health; University of Utah; National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C]; Spanish Ministry of Economy and Competitiveness through the Instituto de Salud Carlos III [FIS PI13/01136]; Wellcome Trust [076113] FX In the United Kingdom, Bloodwise provided funding for the study (LRF05001, LRF06002 and LRF13044) with additional support from Cancer Research UK (C1298/A8362 supported by the Bobby Moore Fund) and the Arbib Fund. G.P.S. is in receipt of a PhD studentship from The Institute of Cancer Research. The NCI/InterLymph NHL GWAS initiative was supported by the intramural programme of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, US National Institutes of Health. ATBC-This research was supported in part by the Intramural Research Program of the NIH and the National Cancer Institute. In addition, this research was supported by U.S. Public Health Service contracts N01 CN 45165, N01 RC 45035, N01 RC 37004 and HHSN261201000006C from the National Cancer Institute, Department of Health and Human Services. BC-Canadian Institutes for Health Research (CIHR); Canadian Cancer Society; Michael Smith Foundation for Health Research. CPS-II-The Cancer Prevention Study-II (CPS-II) Nutrition Cohort is supported by the American Cancer Society. Genotyping for all CPS-II samples was supported by the Intramural Research Program of the National Institutes of Health, NCI, Division of Cancer Epidemiology and Genetics. We also acknowledge the contribution to this study from central cancer registries supported through the Centers for Disease Control and Prevention National Program of Cancer Registries, and cancer registries supported by the National Cancer Institute Surveillance Epidemiology and End Results program. ELCCS-Leukemia and Lymphoma Research. ENGELA-Association pour la Recherche contre le Cancer (ARC), Institut National du Cancer (INCa), Fondation de France, Fondation contre la Leucemie, Agence nationale de securite sanitaire de l'alimentation, de l'environnement et du travail (ANSES). EPIC-Coordinated Action (Contract #006438, SP23-CT-2005-006438); HuGeF (Human Genetics Foundation), Torino, Italy; Cancer Research UK. EpiLymph-European Commission (grant references QLK4-CT-2000-00422 and FOOD-CT-2006-023103); the Spanish Ministry of Health (grant references CIBERESP, PI11/01810, PI14/01219, RCESP C03/09, RTICESP C03/10 and RTIC RD06/0020/0095), the Marato de TV3 Foundation (grant reference 051210), the Agencia de Gestiod AjutsUniversitarisi de Recerca-Generalitat de Catalunya (grant reference 2014SRG756), who had no role in the data collection, analysis or interpretation of the results; the NIH (contract NO1-CO-12400); the Compagnia di San Paolo-Programma Oncologia; the Federal Office for Radiation Protection grants StSch4261 and StSch4420, the Jose Carreras Leukemia Foundation grant DJCLS-R12/23, the German Federal Ministry for Education and Research (BMBF-01-EO-1303); the Health Research Board, Ireland, and Cancer Research Ireland; Czech Republic supported by MH CZ-DRO (MMCI, 00209805) and RECAMO, CZ.1.05/2.1.00/03.0101; Fondation de France and Association de Recherche Contre le Cancer. GEC/Mayo GWAS-National Institutes of Health (CA118444, CA148690, CA92153). Intramural Research Program of the NIH, National Cancer Institute. Veterans Affairs Research Service. Data collection for Duke University was supported by a Leukemia and Lymphoma Society Career Development Award, the Bernstein Family Fund for Leukemia and Lymphoma Research and the National Institutes of Health (K08CA134919), National Center for Advancing Translational Science (UL1 TR000135). HPFS-The HPFS was supported in part by National Institutes of Health grants CA167552, CA149445 and CA098122.; We would like to thank the participants and staff of the Health Professionals Follow-up Study for their valuable contributions as well as the following state cancer registries for their help: AL, AZ, AR, CA, CO, CT, DE, FL, GA, ID, IL, IN, IA, KY, LA, ME, MD, MA, MI, NE, NH, NJ, NY, NC, ND, OH, OK, OR, PA, RI, SC, TN, TX, VA, WA, WY. We assume full responsibility for analyses and interpretation of these data. Iowa-Mayo SPORE-NCI Specialized Programs of Research Excellence (SPORE) in Human Cancer (P50 CA97274); National Cancer Institute (P30 CA086862, P30 CA15083); Henry J. Predolin Foundation. Italian GxE-Italian Association for Cancer Research (AIRC, Investigator Grant 11855; PC); Fondazione Banco di Sardegna 2010-2012 and Regione Autonoma della Sardegna (LR7 CRP-59812/2012; MGE). Mayo Clinic Case-Control-National Institutes of Health (R01 CA92153); National Cancer Institute (P30 CA015083). MCCS-The Melbourne Collaborative Cohort Study recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further supported by Australian NHMRC grants 209057, 251553 and 504711 and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry (VCR). MD Anderson-Institutional support to the Center for Translational and Public Health Genomics. MSKCC-Geoffrey Beene Cancer Research Grant, Lymphoma Foundation (LF5541); Barbara K. Lipman Lymphoma Research Fund (74419); Robert and Kate Niehaus Clinical Cancer Genetics Research Initiative (57470); U01 HG007033; ENCODE; U01 HG007033. R21 CA178800. NCI-SEER-Intramural Research Program of the National Cancer Institute, National Institutes of Health and Public Health Service (N01-PC-65064, N01-PC-67008, N01-PC-67009, N01-PC-67010, N02-PC-71105). NHS-The NHS was supported in part by National Institutes of Health grants CA186107, CA87969, CA49449, CA149445 and CA098122. We would like to thank the participants and staff of the Nurses' Health Study for their valuable contributions as well as the following state cancer registries for their help: A.L., A.Z., A.R., C.A., C.O., C.T., D.E., F.L., G.A., I.D., I.L., I.N., I. A., K.Y., L.A., M.E., M.D., M.A., M.I., N.E., N.H., N.J., N.Y., N.C., N.D., O.H., O.K., O.R., P.A., R.I., S.C., T.N., T.X., V.A., W.A. and W.Y. The authors assume full responsibility for analyses and interpretation of these data. NSW-NSW was supported by grants from the Australian National Health and Medical Research Council (ID990920), the Cancer Council NSW and the University of Sydney Faculty of Medicine. NYU-WHS-National Cancer Institute (R01 CA098661, P30 CA016087); National Institute of Environmental Health Sciences (ES000260). PLCO-This research was supported by the Intramural Research Program of the National Cancer Institute and by contracts from the Division of Cancer Prevention, National Cancer Institute, NIH, DHHS. SCALE-Swedish Cancer Society (2009/659). Stockholm County Council (20110209) and the Strategic Research Program in Epidemiology at Karolinska Institute. Swedish Cancer Society grant (02 6661). National Institutes of Health (5R01 CA69669-02); Plan Denmark. UCSF2-The UCSF studies were supported by the NCI, National Institutes of Health, CA1046282, CA154643, CA45614, CA89745, CA87014.; The collection of cancer incidence data used in this study was supported by the California Department of Health Services as part of the statewide cancer reporting programme mandated by California Health and Safety Code Section 103885; the National Cancer Institute's Surveillance, Epidemiology and End Results Program under contract HHSN261201000140C awarded to the Cancer Prevention Institute of California, contract HHSN261201000035C awarded to the University of Southern California, and contract HHSN261201000034C awarded to the Public Health Institute; and the Centers for Disease Control and Prevention's National Program of Cancer Registries, under agreement # 1U58 DP000807-01 awarded to the Public Health Institute. The ideas and opinions expressed herein are those of the authors, and endorsement by the State of California, the California Department of Health Services, the National Cancer Institute or the Centers for Disease Control and Prevention or their contractors and subcontractors is not intended nor should be inferred. UTAH-National Institutes of Health CA134674. Partial support for data collection at the Utah site was made possible by the Utah Population Database (UPDB) and the Utah Cancer Registry (UCR). Partial support for all data sets within the UPDB is provided by the Huntsman Cancer Institute (HCI) and the HCI Comprehensive Cancer Center Support grant, P30 CA42014. The UCR is supported in part by NIH contract HHSN261201000026C from the National Cancer Institute SEER Program with additional support from the Utah State Department of Health and the University of Utah. WHI-WHI investigators are: Program Office (National Heart, Lung, and Blood Institute, Bethesda, Maryland)Jacques Rossouw, Shari Ludlam, Dale Burwen, Joan McGowan, Leslie Ford and Nancy Geller; Clinical Coordinating Center (Fred Hutchinson Cancer Research Center, Seattle, WA)-Garnet Anderson, Ross Prentice, Andrea LaCroix and Charles Kooperberg; Investigators and Academic Centers (Brigham and Women's Hospital, Harvard Medical School, Boston, MA, USA)-JoAnn E. Manson; (MedStar Health Research Institute/Howard University, Washington, DC, USA) Barbara V. Howard; (Stanford Prevention Research Center, Stanford, CA, USA) Marcia L. Stefanick (The Ohio State University, Columbus, OH, USA); Rebecca Jackson (University of Arizona, Tucson/Phoenix, AZ, USA); Cynthia A. Thomson; (University at Buffalo, Buffalo, NY, USA); Jean Wactawski-Wende (University of Florida, Gainesville/Jacksonville, FL, USA); Marian Limacher (University of Iowa, Iowa City/Davenport, IA, USA); Robert Wallace (University of Pittsburgh, Pittsburgh, PA, USA); Lewis Kuller (Wake Forest University School of Medicine, Winston-Salem, NC, USA); Sally Shumaker WHI Memory Study (Wake Forest University School of Medicine, Winston-Salem, NC, USA) Sally Shumaker. The WHI programme is funded by the National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C and HHSN271201100004C. YALE-National Cancer Institute (CA62006); National Cancer Institute (CA165923). The Spanish replication study was supported by the Spanish Ministry of Economy and Competitiveness through the Instituto de Salud Carlos III (FIS PI13/01136; International Cancer Genome Consortium-Chronic Lymphocytic Leukemia Genome Project). We thank L.; Padyukov (Karolinska Institutet) and the Epidemiological Investigation of Rheumatoid Arthritis (EIRA) group for providing control samples from the Swedish population for the Swedish replication study. MCCS cohort recruitment was funded by VicHealth and Cancer Council Victoria. The MCCS was further supported by Australian NHMRC grants 209057, 251553 and 504711, and by infrastructure provided by Cancer Council Victoria. Cases and their vital status were ascertained through the Victorian Cancer Registry (VCR) and the Australian Institute of Health and Welfare (AIHW), including the National Death Index and the Australian Cancer Database. This study makes use of data generated by the Wellcome Trust Case Control Consortium. A full list of the investigators who contributed to the generation of the data is available in www.wtccc.org.uk. Funding for the project was provided by the Wellcome Trust under award 076113. We are grateful to all investigators and all the patients and individuals for their participation. We also thank the clinicians, other hospital staff and study staff that contributed to the blood sample and data collection for this study. NR 61 TC 0 Z9 0 U1 3 U2 3 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 6 PY 2017 VL 8 AR 14175 DI 10.1038/ncomms14175 PG 12 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ6OH UT WOS:000393338200001 PM 28165464 ER PT J AU Liu, C Liu, WX Ye, YH Li, W AF Liu, Chao Liu, Weixiao Ye, Yihong Li, Wei TI Ufd2p synthesizes branched ubiquitin chains to promote the degradation of substrates modified with atypical chains SO NATURE COMMUNICATIONS LA English DT Article ID POLYUBIQUITIN CHAINS; MECHANISTIC INSIGHTS; CONJUGATING ENZYME; STRUCTURAL BASIS; BINDING DOMAIN; LIGASE COMPLEX; PROTEIN; RAD23; SCF; E4 AB Ubiquitination of a subset of proteins by ubiquitin chain elongation factors (E4), represented by Ufd2p in Saccharomyces cerevisiae, is a pivotal regulator for many biological processes. However, the mechanism of Ufd2p-mediated ubiquitination is largely unclear. Here, we show that Ufd2p catalyses K48-linked multi-monoubiquitination on K29-linked ubiquitin chains assembled by the ubiquitin ligase (Ufd4p), resulting in branched ubiquitin chains. This reaction depends on the interaction of K29-linked ubiquitin chains with two N-terminal loops of Ufd2p. Only following the addition of K48-linked ubiquitin to substrates modified with K29-linked ubiquitin chains, can the substrates be escorted to the proteasome for degradation. We demonstrate that this ubiquitin chain linkage switching reaction is essential for ERAD, oleic acid and acid pH resistance in yeast. Thus, our results suggest that Ufd2p functions by switching ubiquitin chain linkages to allow the degradation of proteins modified with a ubiquitin linkage, which is normally not targeted to the proteasome. C1 [Liu, Chao; Liu, Weixiao; Li, Wei] Chinese Acad Sci, Inst Zool, State Key Lab Stem Cell & Reprod Biol, Beijing 100101, Peoples R China. [Ye, Yihong] NIDDK, Mol Biol Lab, NIH, Bethesda, MD 20892 USA. RP Li, W (reprint author), Chinese Acad Sci, Inst Zool, State Key Lab Stem Cell & Reprod Biol, Beijing 100101, Peoples R China. EM leways@ioz.ac.cn FU National Natural Science Foundation of China [31401159, 91519317, 31471277]; National key R&D program of China [2016YFA0500901]; intramural research program at the NIDDK of the National Institutes of Health, USA FX We thank Jun Tang, Caitlin M., Laura M. and Lianyun Li for critical reading of the manuscript. This work was supported by the National Natural Science Foundation of China (Grant No. 31401159, 91519317, 31471277), the National key R&D program of China (Grant No. 2016YFA0500901) and an intramural research program at the NIDDK of the National Institutes of Health, USA. NR 70 TC 0 Z9 0 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 6 PY 2017 VL 8 AR 14274 DI 10.1038/ncomms14274 PG 15 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ6OW UT WOS:000393339700001 PM 28165462 ER PT J AU Mor-Vaknin, N Saha, A Legendre, M Carmona-Rivera, C Amin, MA Rabquer, BJ Gonzales-Hernandez, MJ Jorns, J Mohan, S Yalavarthi, S Pai, DA Angevine, K Almburg, SJ Knight, JS Adams, BS Koch, AE Fox, DA Engelke, DR Kaplan, MJ Markovitz, DM AF Mor-Vaknin, Nirit Saha, Anjan Legendre, Maureen Carmona-Rivera, Carmelo Amin, M. Asif Rabquer, Bradley J. Gonzales-Hernandez, Marta J. Jorns, Julie Mohan, Smriti Yalavarthi, Srilakshmi Pai, Dave A. Angevine, Kristine Almburg, Shelley J. Knight, Jason S. Adams, Barbara S. Koch, Alisa E. Fox, David A. Engelke, David R. Kaplan, Mariana J. Markovitz, David M. TI DEK-targeting DNA aptamers as therapeutics for inflammatory arthritis SO NATURE COMMUNICATIONS LA English DT Article ID NEUTROPHIL EXTRACELLULAR TRAPS; JUVENILE RHEUMATOID-ARTHRITIS; SYSTEMIC-LUPUS-ERYTHEMATOSUS; ANTI-VEGF APTAMER; ONCOPROTEIN DEK; MACROPHAGES; DISEASE; THERAPY; AUTOANTIBODIES; PEGAPTANIB AB Novel therapeutics are required for improving the management of chronic inflammatory diseases. Aptamers are single-stranded RNA or DNA molecules that have recently shown utility in a clinical setting, as they can specifically neutralize biomedically relevant proteins, particularly cell surface and extracellular proteins. The nuclear chromatin protein DEK is a secreted chemoattractant that is abundant in the synovia of patients with juvenile idiopathic arthritis (JIA). Here, we show that DEK is crucial to the development of arthritis in mouse models, thus making it an appropriate target for aptamer-based therapy. Genetic depletion of DEK or treatment with DEK-targeted aptamers significantly reduces joint inflammation in vivo and greatly impairs the ability of neutrophils to form neutrophil extracellular traps (NETs). DEK is detected in spontaneously forming NETs from JIA patient synovial neutrophils, and DEK-targeted aptamers reduce NET formation. DEK is thus key to joint inflammation, and anti-DEK aptamers hold promise for the treatment of JIA and other types of arthritis. C1 [Mor-Vaknin, Nirit; Saha, Anjan; Legendre, Maureen; Gonzales-Hernandez, Marta J.; Adams, Barbara S.; Markovitz, David M.] Univ Michigan, Div Infect Dis, Dept Internal Med, Ann Arbor, MI 48109 USA. [Saha, Anjan] Univ Michigan, Program Canc Biol, Ann Arbor, MI 48109 USA. [Carmona-Rivera, Carmelo; Kaplan, Mariana J.] NIAMSD, Syst Autoimmun Branch, Bethesda, MD 20892 USA. [Amin, M. Asif; Rabquer, Bradley J.; Yalavarthi, Srilakshmi; Knight, Jason S.; Koch, Alisa E.; Fox, David A.] Univ Michigan, Div Rheumatol, Dept Internal Med, Ann Arbor, MI 48109 USA. [Jorns, Julie] Univ Michigan, Dept Pathol, Ann Arbor, MI 48109 USA. [Mohan, Smriti] Univ Michigan, Div Pediat Rheumatol, Dept Pediat & Communicable Dis, Ann Arbor, MI 48109 USA. [Pai, Dave A.; Angevine, Kristine; Engelke, David R.] Univ Michigan, Dept Biol Chem, Ann Arbor, MI 48109 USA. [Almburg, Shelley J.] Univ Michigan, Microscopy & Image Anal Lab, Ann Arbor, MI 48109 USA. [Koch, Alisa E.] Univ Michigan, Div Rheumatol, Dept Internal Med, VA Med Serv, Ann Arbor, MI 48105 USA. [Markovitz, David M.] Univ Michigan, Program Immunol, Ann Arbor, MI 48109 USA. [Markovitz, David M.] Univ Michigan, Program Cellular & Mol Biol, Ann Arbor, MI 48109 USA. [Markovitz, David M.] Univ Michigan, Program Canc Biol, Ann Arbor, MI 48109 USA. [Rabquer, Bradley J.] Albion Coll, Dept Biol, Albion, MI 49224 USA. [Gonzales-Hernandez, Marta J.] Rubicon Genom, Ann Arbor, MI 48108 USA. [Pai, Dave A.] Scripps Res Inst, La Jolla, CA 92037 USA. [Angevine, Kristine] Appistry Inc, St Louis, MO 63104 USA. RP Mor-Vaknin, N (reprint author), Univ Michigan, Div Infect Dis, Dept Internal Med, Ann Arbor, MI 48109 USA. EM morvak@umich.edu FU National Institutes of Health (NIH) [R01 AI062248]; Burroughs Wellcome Fund Clinical Scientist Award in Translational Research; Rheumatology Research Foundation; NIH [R03 AR056748- 01, K01 AR055620, R03 AR052482, HL094017, AR007080, AR38477]; internal University of Michigan Cancer Biology Program Fellowship; University of Michigan; NIH Ruth L. Kirschstein NRSA Individual Predoctoral Fellowship [1F31CA150523-01]; Intramural Research Program, NIAMS/NIH; Within Our Reach grant from the Rheumatology Research Foundation/American College of Rheumatology; Veterans Administration, Ann Arbor, MI; Frederick G.L. Heutwell and William D. Robinson, M.D. Endowment; Rheumatology Research Foundation Scientist Development Award FX We thank Mark Kaplan and Ferdinand Kappes for intellectual support, Jen Lewis and Kim Weber for assisting with manuscript preparation, and Sasha Meshinchi for microscopy support. This work was supported by grants to D.M.M. from the National Institutes of Health (NIH), R01 AI062248, the Burroughs Wellcome Fund Clinical Scientist Award in Translational Research, and a grant from the Rheumatology Research Foundation. R03 AR056748- 01 and K01 AR055620 from the NIH supported N.M.-V. A.S. was supported by an internal University of Michigan Cancer Biology Program Fellowship. M.J.G-H. was supported by a Rackham Merit Fellowship, the Mechanisms of Microbial Pathogenesis Training Grant from the University of Michigan, and by an NIH Ruth L. Kirschstein NRSA Individual Predoctoral Fellowship to Promote Diversity in Health-Related Research grant 1F31CA150523-01. M.A.A. was funded by NIH R03 AR052482. B.J.R was supported by NIH grant HL094017. C.C.-R. was funded by NIH grant AR007080 and by the Intramural Research Program, NIAMS/NIH. D.A.F. was funded by NIH grant AR38477. M.J.K. was funded by a Within Our Reach grant from the Rheumatology Research Foundation/American College of Rheumatology and by the Intramural Research Program, NIAMS/NIH, and A.E.K. was funded by the Veterans Administration, Ann Arbor, MI and the Frederick G.L. Heutwell and William D. Robinson, M.D. Endowment. J.S.K. was supported by a Rheumatology Research Foundation Scientist Development Award. NR 41 TC 0 Z9 0 U1 10 U2 10 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2041-1723 J9 NAT COMMUN JI Nat. Commun. PD FEB 6 PY 2017 VL 8 AR 14252 DI 10.1038/ncomms14252 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ6OT UT WOS:000393339400001 PM 28165452 ER PT J AU Gu, X Hua, ZY Dong, YD Zhan, Y Zhang, XW Tian, W Liu, ZH Thiele, CJ Li, ZJ AF Gu, Xiao Hua, Zhongyan Dong, Yudi Zhan, Yue Zhang, Xiaowen Tian, Wei Liu, Zhihui Thiele, Carol J. Li, Zhijie TI Proteome and Acetylome Analysis Identifies Novel Pathways and Targets Regulated by Perifosine in Neuroblastoma SO Scientific Reports LA English DT Article ID CANCER-CELLS; DEATH RECEPTORS; AKT INHIBITOR; IN-VITRO; CHOLESTEROL TRANSPORT; EXTRACELLULAR-MATRIX; ANTITUMOR-ACTIVITY; DOWN-REGULATION; LIPID RAFTS; GROWTH AB Perifosine, an Akt inhibitor, has been shown to be effective in controlling neuroblastoma tumor growth. However, studies indicate that in addition to the ability to inhibit Akt, other mechanisms contribute to perifosine's anti-tumor activity. To gain insight into perifosine anti-tumor activity in neuroblastoma we have studied changes in the proteome and acetylome after perifosine treatment in SK-N-AS neuroblastoma cells using SILAC labeling, affinity enrichment, high-resolution and LC-MS/MS analysis. Bioinformatic analysis indicates that, a total of 5,880 proteins and 3,415 lysine acetylation sites were quantified in SK-N-AS cells and 216 differentially expressed proteins and 115 differentially expressed lysine acetylation sites were obtained. These differentially expressed proteins and lysine acetylated proteins were involved in a number of different biological functions, metabolic pathways and pathophysiological processes. This study details the impact of perifosine on proteome and lysine acetylome in SK-N-AS cells and expands our understanding of the mechanisms of perifosine action in neuroblastoma. C1 [Gu, Xiao; Hua, Zhongyan; Dong, Yudi; Zhan, Yue; Zhang, Xiaowen; Tian, Wei; Li, Zhijie] China Med Univ, Med Res Ctr, Shengjing Hosp, Shenyang 110004, Peoples R China. [Liu, Zhihui; Thiele, Carol J.] NCI, Cellular & Mol Biol Sect, Pediat Oncol Branch, NIH, Bethesda, MD 20892 USA. RP Li, ZJ (reprint author), China Med Univ, Med Res Ctr, Shengjing Hosp, Shenyang 110004, Peoples R China. EM lizhijie68@hotmail.com FU National Natural Science Foundation of China [81272538, 81472359]; Liaoning Climbing Scholar Foundation FX We thank the PTM Biolabs for their assistance with experiments. This work was supported by National Natural Science Foundation of China (No. 81272538, No. 81472359), 2013 Liaoning Climbing Scholar Foundation. NR 42 TC 0 Z9 0 U1 5 U2 5 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 6 PY 2017 VL 7 AR 42062 DI 10.1038/srep42062 PG 13 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ7US UT WOS:000393428800001 PM 28165023 ER PT J AU Loohuis, NFMO Kasri, NN Glennon, JC van Bokhoven, H Hebert, SS Kaplan, BB Martens, GJM Aschrafi, A AF Loohuis, Nikkie F. M. Olde Kasri, Nael Nadif Glennon, Jeffrey C. van Bokhoven, Hans Hebert, Sebastien S. Kaplan, Barry B. Martens, Gerard J. M. Aschrafi, Armaz TI The schizophrenia risk gene MIR137 acts as a hippocampal gene network node orchestrating the expression of genes relevant to nervous system development and function SO PROGRESS IN NEURO-PSYCHOPHARMACOLOGY & BIOLOGICAL PSYCHIATRY LA English DT Article DE Gene network; MicroRNA; Neurodevelopment ID MENTAL-RETARDATION PROTEIN; MGLUR-DEPENDENT LTD; SYNAPTIC PLASTICITY; CEREBELLAR VERMIS; NEGATIVE SYMPTOMS; MICRORNA TARGETS; IN-VITRO; PATHWAYS; MIR-137; LAMININ AB MicroRNAs (miRs) are small regulatory molecules, which orchestrate neuronal development and plasticity through modulation of complex gene networks. MicroRNA-137 (miR-137) is a brain-enriched RNA with a critical role in regulating brain development and in mediating synaptic plasticity. Importantly, mutations in this miR are associated with the pathoetiology of schizophrenia (SZ), and there is a widespread assumption that disruptions in miR-137 expression lead to aberrant expression of gene regulatory networks associated with SZ. To systematically identify the mRNA targets for this miR, we performed miR-137 gain- and loss-of-function experiments in primary rat hippocampal neurons and profiled differentially expressed mRNAs through next-generation sequencing. We identified 500 genes that were bidirectionally activated or repressed in their expression by the modulation of miR-137 levels. Gene ontology analysis using two independent software resources suggested functions for these miR-137-regulated genes in neurodevelopmental processes, neuronal maturation processes and cell maintenance, all of which known to be critical for proper brain circuitry formation. Since many of the putative miR-137 targets identified here also have been previously shown to be associated with SZ, we propose that this miR acts as a critical gene network hub contributing to the pathophysiology of this neurodevelopmental disorder. Published by Elsevier Inc. C1 [Loohuis, Nikkie F. M. Olde; Kasri, Nael Nadif; Glennon, Jeffrey C.; van Bokhoven, Hans] Radboudumc, Dept Cognit Neurosci, NL-6500 HB Nijmegen, Netherlands. [Loohuis, Nikkie F. M. Olde; Kasri, Nael Nadif; Glennon, Jeffrey C.; van Bokhoven, Hans; Martens, Gerard J. M.; Aschrafi, Armaz] Ctr Neurosci, Donders Inst Brain Cognit & Behav, NL-6525 AJ Nijmegen, Netherlands. [Kasri, Nael Nadif; van Bokhoven, Hans] Radboudumc, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands. [Hebert, Sebastien S.] CHUL, CHU Quebec, Ctr Rech, Axe Neurosci, Quebec City, PQ G1V 4G2, Canada. [Hebert, Sebastien S.] Univ Laval, Dept Psychiat & Neurosci, Quebec City, PQ G1V 0A6, Canada. [Kaplan, Barry B.; Aschrafi, Armaz] NIMH, Mol Biol Lab, NIH, Bethesda, MD 20892 USA. [Martens, Gerard J. M.] Radboud Univ Nijmegen, Dept Mol Anim Physiol, NL-6525 HP Nijmegen, Netherlands. RP Aschrafi, A (reprint author), NIMH, Mol Biol Lab, NIH, Bethesda, MD 20892 USA. EM armaz.aschrafi@nih.gov RI Nadif Kasri, Nael/E-2270-2012; Glennon, Jeffrey/D-2379-2013 OI Nadif Kasri, Nael/0000-0002-7448-9289; FU "Donders Center for Neuroscience fellowship award of the Radboudumc"; "FP7-Marie Curie International Reintegration Grant" [276868, 277091]; Jerome Lejeune Foundation; GENCODYS, an EU FP7 large-scale integrating project grant [241995] FX We thank Aron Kos for technical assistance. The research of the authors is supported by grants from the "Donders Center for Neuroscience fellowship award of the Radboudumc" [to A.A. and N.N.K.]; the "FP7-Marie Curie International Reintegration Grant" [to A.A. grant number 276868 and N.N.K. grant number 277091]; the Jerome Lejeune Foundation [to N.N.K] and GENCODYS, an EU FP7 large-scale integrating project grant [grant number 241995] [to HvB]. NR 70 TC 2 Z9 2 U1 41 U2 41 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0278-5846 EI 1878-4216 J9 PROG NEURO-PSYCHOPH JI Prog. Neuro-Psychopharmacol. Biol. Psychiatry PD FEB 6 PY 2017 VL 73 BP 109 EP 118 DI 10.1016/j.pnpbp.2016.02.009 PG 10 WC Clinical Neurology; Neurosciences; Pharmacology & Pharmacy; Psychiatry SC Neurosciences & Neurology; Pharmacology & Pharmacy; Psychiatry GA ED8ZR UT WOS:000389160100014 ER PT J AU Berthon, A Faucz, F Bertherat, J Stratakis, CA AF Berthon, Annabel Faucz, Fabio Bertherat, Jerome Stratakis, Constantine A. TI Analysis of of ARMC5 expression in human tissues SO MOLECULAR AND CELLULAR ENDOCRINOLOGY LA English DT Article; Proceedings Paper CT 17th Biennial Conference on the Adrenal Cortex (Adrenal) CY MAR 28-31, 2016 CL Boston, MA SP Eunice Kennedy Shriver Natl Inst Child Hlth & Human Dev, Univ Michigan Endocrine Oncol Program, Millendo Therapeut, Strongbridge Biopharma, Corcept Therapeutics DE ARMC5; Adrenal; Primary macronodular adrenal hyperplasia; Isoform; Expression ID MACRONODULAR ADRENAL-HYPERPLASIA; MUTATIONS AB Mutations in ARMC5 gene have been recently identified as the main cause of Primary Macronodular Adrenocortical Hyperplasia (PMAH). PMAH patients have an ARMC5 germline mutation and, in addition, somatic tissue-specific mutations. This is consistent with the two-hit hypothesis of tumorigenesis and suggests that ARMC5 may be a tumor suppressor gene. As its function is still unclear, we analyzed the expression of the four ARMC5 isoforms in 46 normal human tissues. This showed that at least one ARMC5 isoform is ubiquitously expressed throughout the body; however, only 7 tissues expressed all isoforms, including the adrenal gland and the brain. Interestingly, the highest expression for ARMC5 in the brain is in the pituitary gland. The isoform ARMC5-003 was present in most endocrine tissues including the pituitary, adrenal glands and the pancreas. In this report, we present new data about the ARMC5 expression pattern in human tissues; its wide expression in brain, pituitary gland and other tissues suggest that mutations may be responsible for additional pathologies, beyond what is already known in PMAH and meningiomas. Published by Elsevier Ireland Ltd. C1 [Berthon, Annabel; Faucz, Fabio; Stratakis, Constantine A.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Endocrinol & Genet, NIH, Bethesda, MD 20892 USA. [Bertherat, Jerome] Inst Cochin, INSERM, U1016, CNRS,UMR 8104, F-75014 Paris, France. [Bertherat, Jerome] Hop Cochin, AP HP, Dept Endocrinol, Referral Ctr Rare Adrenal Dis, F-75014 Paris, France. RP Stratakis, CA (reprint author), NICHD, SEGEN, NIH, Clin Res Ctr, 10 Ctr Dr,Bldg 10,Room 1-3330,MSC1103, Bethesda, MD 20892 USA. EM stratakc@mail.nih.gov FU National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development [00-CH-0160] FX This research was supported in part by the Intramural Research Program of the National Institutes of Health (NIH), Eunice Kennedy Shriver National Institute of Child Health and Human Development, protocol 00-CH-0160 (Clinical and Molecular Analysis of ACTH Independent Steroid Hormone Production in Adrenocortical Tissue). NR 13 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0303-7207 J9 MOL CELL ENDOCRINOL JI Mol. Cell. Endocrinol. PD FEB 5 PY 2017 VL 441 IS C BP 140 EP 145 DI 10.1016/j.mce.2016.08.018 PG 6 WC Cell Biology; Endocrinology & Metabolism SC Cell Biology; Endocrinology & Metabolism GA EJ5HD UT WOS:000393247500018 PM 27568465 ER PT J AU Dorner, J Rodriguez, VM Ziegler, R Rohrig, T Cochran, RS Gotz, RM Levin, MD Pihlajoki, M Heikinheimo, M Wilson, DB AF Doerner, Julia Rodriguez, Verena Martinez Ziegler, Ricarda Roehrig, Theresa Cochran, Rebecca S. Goetz, Ronni M. Levin, Mark D. Pihlajoki, Marjut Heikinheimo, Markku Wilson, David B. TI GLI1(+) progenitor cells in the adrenal capsule of the adult mouse give rise to heterotopic gonadal-like tissue SO MOLECULAR AND CELLULAR ENDOCRINOLOGY LA English DT Article; Proceedings Paper CT 17th Biennial Conference on the Adrenal Cortex (Adrenal) CY MAR 28-31, 2016 CL Boston, MA SP Eunice Kennedy Shriver Natl Inst Child Hlth & Human Dev, Univ Michigan Endocrine Oncol Program, Millendo Therapeut, Strongbridge Biopharma, Corcept Therapeutics DE Adrenal cortex; Gonadectomy; Gonadotropin; Lineage tracing; Orchiectomy; Ovariectomy ID INDUCED ADRENOCORTICAL-NEOPLASIA; PERITUBULAR CELLS; LEYDIG-CELLS; STEM-CELLS; MICE; FETAL; DIFFERENTIATION; PROLIFERATION; ACTIVATION; EXPRESSION AB As certain strains of mice age, hyperplastic lesions resembling gonadal tissue accumulate beneath the adrenal capsule. Gonadectomy (GDX) accelerates this heterotopic differentiation, resulting in the formation of wedge-shaped adrenocortical neoplasms that produce sex steroids. Stem/progenitor cells that reside in the adrenal capsule and retain properties of the adrenogonadal primordium are thought to be the source of this heterotopic tissue. Here, we demonstrate that GLI1(+) progenitors in the adrenal capsule give rise to gonadal-like cells that accumulate in the subcapsular region. A tamoxifen-inducible Cre driver (Glil-creER(T2)) and two reporters (R26R-lacZ, R26R-confetti) were used to track the fate of GLI1(+) cells in the adrenal glands of B6D2F2 mice, a strain that develops both GDX-induced adrenocortical neoplasms and age-dependent subcapsular cell hyperplasia. In gonadectomized B6D2F2 mice GLI1(+) progenitors contributed to long-lived adrenal capsule cells and to adrenocortical neoplasms that expressed Gata4 and Foxl2, two prototypical gonadal markers. Pdgfra, a gene expressed in adrenocortical stromal cells, was upregulated in the GDX-induced neoplasms. In aged non-gonadectomized B6D2F2 mice GLI1(+) progenitors gave rise to patches of subcapsular cell hyperplasia. Treatment with GANT61, a small-molecule GLI antagonist, attenuated the upregulation of gonadal-like markers (Gata4, Foxl2) in response to GDX. These findings support the premise that GLI1(+) progenitor cells in the adrenal capsule of the adult mouse give rise to heterotopic tissue. (C) 2016 Elsevier Ireland Ltd. All rights reserved. C1 [Doerner, Julia; Rodriguez, Verena Martinez; Ziegler, Ricarda; Roehrig, Theresa; Cochran, Rebecca S.; Goetz, Ronni M.; Levin, Mark D.; Heikinheimo, Markku; Wilson, David B.] Washington Univ, Sch Med, Dept Pediat, St Louis Childrens Hosp, St Louis, MO 63110 USA. [Wilson, David B.] Washington Univ, Sch Med, Dept Dev Biol, St Louis, MO 63110 USA. [Doerner, Julia; Rodriguez, Verena Martinez; Ziegler, Ricarda; Roehrig, Theresa; Goetz, Ronni M.] Univ Appl Sci, Hsch Mannheim, D-68163 Mannheim, Germany. [Pihlajoki, Marjut; Heikinheimo, Markku] Univ Helsinki, FIN-00290 Helsinki, Finland. [Pihlajoki, Marjut; Heikinheimo, Markku] Univ Helsinki, Cent Hosp, Childrens Hosp, FIN-00290 Helsinki, Finland. [Levin, Mark D.] NHLBI, Cardiopulm Branch, NIH, Bethesda, MD 20892 USA. RP Wilson, DB (reprint author), Washington Univ, Sch Med, Box 8208,660 S Euclid Ave, St Louis, MO 63110 USA. EM wilson_d@wustl.edu FU NIH [DK52574, DK075618, HL094748]; American Heart Association [13GRNT16850031]; DOD [PC141008, OC150105]; Sigrid Juselius Foundation; Academy of Finland FX NIH grants DK52574, DK075618, and HL094748; American Heart Association grant 13GRNT16850031, DOD grants PC141008 and OC150105, the Sigrid Juselius Foundation, and the Academy of Finland. NR 54 TC 0 Z9 0 U1 2 U2 2 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0303-7207 J9 MOL CELL ENDOCRINOL JI Mol. Cell. Endocrinol. PD FEB 5 PY 2017 VL 441 IS C BP 164 EP 175 DI 10.1016/j.mce.2016.08.043 PG 12 WC Cell Biology; Endocrinology & Metabolism SC Cell Biology; Endocrinology & Metabolism GA EJ5HD UT WOS:000393247500021 PM 27585489 ER PT J AU Parker, HG Harris, A Dreger, DL Davis, BW Ostrander, EA AF Parker, Heidi G. Harris, Alexander Dreger, Dayna L. Davis, Brian W. Ostrander, Elaine A. TI The bald and the beautiful: hairlessness in domestic dog breeds SO PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES LA English DT Article DE canine; genomics; mutation; breed; variation; domestication ID HAIR FOLLICLE DEVELOPMENT; CHINESE CRESTED DOG; MORPHOLOGICAL CHANGE; WILD CANIDS; GENOME; DISEASE; GENE; FOXI3; COAT; MUTATIONS AB An extraordinary amount of genomic variation is contained within the chromosomes of domestic dogs, manifesting as dramatic differences in morphology, behaviour and disease susceptibility. Morphology, in particular, has been a topic of enormous interest as biologists struggle to understand the small window of dog domestication from wolves, and the division of dogs into pure breeding, closed populations termed breeds. Many traits related to morphology, including body size, leg length and skull shape, have been under selection as part of the standard descriptions for the nearly 400 breeds recognized worldwide. Just as important, however, are the minor traits that have undergone selection by fanciers and breeders to define dogs of a particular appearance, such as tail length, ear position, back arch and variation in fur (pelage) growth patterns. In this paper, we both review and present new data for traits associated with pelage including fur length, curl, growth, shedding and even the presence or absence of fur. Finally, we report the discovery of a new gene associated with the absence of coat in the American Hairless Terrier breed. This article is part of the themed issue 'Evo-devo in the genomics era, and the origins of morphological diversity'. C1 [Parker, Heidi G.; Harris, Alexander; Dreger, Dayna L.; Davis, Brian W.; Ostrander, Elaine A.] NHGRI, NIH, Bethesda, MD 20892 USA. RP Ostrander, EA (reprint author), NHGRI, NIH, Bethesda, MD 20892 USA. EM eostrand@mail.nih.gov OI Ostrander, Elaine/0000-0001-6075-9738 FU Intramural Programme of the National Human Genome Research Institute of the National Institutes of Health FX The Intramural Programme of the National Human Genome Research Institute of the National Institutes of Health funded this study. NR 55 TC 1 Z9 1 U1 94 U2 94 PU ROYAL SOC PI LONDON PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND SN 0962-8436 EI 1471-2970 J9 PHILOS T R SOC B JI Philos. Trans. R. Soc. B-Biol. Sci. PD FEB 5 PY 2017 VL 372 IS 1713 AR 20150488 DI 10.1098/rstb.2015.0488 PG 8 WC Biology SC Life Sciences & Biomedicine - Other Topics GA EF5XL UT WOS:000390403000014 ER PT J AU Tang, LL Yuan, A Collins, J Che, X Chan, L AF Tang, Liansheng Larry Yuan, Ao Collins, John Che, Xuan Chan, Leighton TI Unified Least Squares Methods for the Evaluation of Diagnostic Tests With the Gold Standard SO CANCER INFORMATICS LA English DT Review DE ROC curve; least squares; sensitivity; specificity ID CELL ADHESION MOLECULE; OVARIAN-CANCER; ROC-CURVE; EXPRESSION; MARKERS AB The article proposes a unified least squares method to estimate the receiver operating characteristic (ROC) parameters for continuous and ordinal diagnostic tests, such as cancer biomarkers. The method is based on a linear model framework using the empirically estimated sensitivities and specificities as input "data." It gives consistent estimates for regression and accuracy parameters when the underlying continuous test results are normally distributed after some monotonic transformation. The key difference between the proposed method and the method of Tang and Zhou lies in the response variable. The response variable in the latter is transformed empirical ROC curves at different thresholds. It takes on many values for continuous test results, but few values for ordinal test results. The limited number of values for the response variable makes it impractical for ordinal data. However, the response variable in the proposed method takes on many more distinct values so that the method yields valid estimates for ordinal data. Extensive simulation studies are conducted to investigate and compare the finite sample performance of the proposed method with an existing method, and the method is then used to analyze 2 real cancer diagnostic example as an illustration. C1 [Tang, Liansheng Larry; Collins, John] George Mason Univ, Dept Stat, Fairfax, VA 22030 USA. [Tang, Liansheng Larry; Yuan, Ao; Collins, John; Che, Xuan; Chan, Leighton] NIH, Dept Rehabil Med, Ctr Clin, Bethesda, MD 20892 USA. [Yuan, Ao] Georgetown Univ, Dept Biostat Bioinformat & Biomath, Washington, DC USA. RP Tang, LL (reprint author), George Mason Univ, Dept Stat, Fairfax, VA 22030 USA.; Tang, LL (reprint author), NIH, Dept Rehabil Med, Ctr Clin, Bethesda, MD 20892 USA. EM ltang1@gmu.edu FU Intramural Research Program of the National Institutes of Health; US Social Security Administration FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This work is supported in part by the Intramural Research Program of the National Institutes of Health and the US Social Security Administration. NR 21 TC 0 Z9 0 U1 1 U2 1 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1176-9351 J9 CANCER INFORM JI Cancer Inform. PD FEB 3 PY 2017 VL 16 BP 1 EP 12 DI 10.1177/1176935116686063 PG 12 WC Mathematical & Computational Biology SC Mathematical & Computational Biology GA EP8SP UT WOS:000397645400001 ER PT J AU Feigin, VL Norrving, B Mensah, GA AF Feigin, Valery L. Norrving, Bo Mensah, George A. TI Global Burden of Stroke SO CIRCULATION RESEARCH LA English DT Article DE burden; epidemiology; GBD; prevention; stroke ID ADJUSTED LIFE YEARS; HEMORRHAGIC STROKE; RISK-FACTORS; SYSTEMATIC ANALYSIS; REGIONAL BURDEN; DISEASE; MORTALITY; PREVALENCE; AGE; POPULATION AB On the basis of the GBD (Global Burden of Disease) 2013 Study, this article provides an overview of the global, regional, and country-specific burden of stroke by sex and age groups, including trends in stroke burden from 1990 to 2013, and outlines recommended measures to reduce stroke burden. It shows that although stroke incidence, prevalence, mortality, and disability-adjusted life-years rates tend to decline from 1990 to 2013, the overall stroke burden in terms of absolute number of people affected by, or who remained disabled from, stroke has increased across the globe in both men and women of all ages. This provides a strong argument that "business as usual" for primary stroke prevention is not sufficiently effective. Although prevention of stroke is a complex medical and political issue, there is strong evidence that substantial prevention of stroke is feasible in practice. The need to scale-up the primary prevention actions is urgent. C1 [Feigin, Valery L.] Auckland Univ Technol, Sch Publ Hlth & Psychosocial Studies, Natl Inst Stroke & Appl Neurosci, Fac Hlth & Environm Studies, 90 Akoranga Dr,Northcote 0627,Private Bag 92006, Auckland 1142, New Zealand. [Norrving, Bo] Lund Univ, Dept Clin Sci, Neurol, S-22100 Lund, Sweden. [Mensah, George A.] NHLBI, Div Cardiovasc Sci, Ctr Translat Res & Implementat Sci, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Feigin, VL (reprint author), Auckland Univ Technol, Sch Publ Hlth & Psychosocial Studies, Natl Inst Stroke & Appl Neurosci, Fac Hlth & Environm Studies, 90 Akoranga Dr,Northcote 0627,Private Bag 92006, Auckland 1142, New Zealand. EM valery.feigin@aut.ac.nz FU Bill and Melinda Gates Foundation; Health Research Council of New Zealand; Brain Research New Zealand Centre of Research Excellence and Ageing Well Programme of the National Science Challenge, Ministry of Business, Innovation and Employment of New Zealand FX This article and some reported figures were based on research supported by the Bill and Melinda Gates Foundation; Prof Feigin was partly funded by the Health Research Council of New Zealand, the Brain Research New Zealand Centre of Research Excellence and Ageing Well Programme of the National Science Challenge, Ministry of Business, Innovation and Employment of New Zealand. NR 28 TC 1 Z9 1 U1 5 U2 5 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0009-7330 EI 1524-4571 J9 CIRC RES JI Circ.Res. PD FEB 3 PY 2017 VL 120 IS 3 BP 439 EP 448 DI 10.1161/CIRCRESAHA.116.308413 PG 10 WC Cardiac & Cardiovascular Systems; Hematology; Peripheral Vascular Disease SC Cardiovascular System & Cardiology; Hematology GA EK5YX UT WOS:000394003200002 PM 28154096 ER PT J AU Hymel, D Burke, TR AF Hymel, David Burke, Terrence R., Jr. TI Phosphatase-Stable Phosphoamino Acid Mimetics That Enhance Binding Affinities with the Polo-Box Domain of Polo-like Kinase 1 SO CHEMMEDCHEM LA English DT Article DE phosphatases; phosphothreonine; polo-box domain; polo-like kinase 1 ID SIGNAL-TRANSDUCTION; 2-AMINO-3-METHYL-4-PHOSPHONOBUTANOIC ACIDS; FLUORESCENCE POLARIZATION; PHOSPHOTYROSYL MIMETICS; MANNICH REACTION; INHIBITORS; PLK1; ALKYLATION; PEPTIDES; PHOSPHOTHREONINE AB (2S, 3R)-2-Amino-3-methyl-4-phosphonobutanoic acid (Pmab) is a phosphatase-stable analogue of phosphothreonine (pThr), which has been used in a variety of biological contexts. Among these applications are peptidomimetic ligands that bind to the polo-box domain (PBD) of polo-like kinase 1 (Plk1) with affinities approaching that of the corresponding pThr-containing peptides. However, Pmab is not widely used, because there are no direct, high-yield preparations of suitably protected reagent. We have now achieved an efficient synthesis of protected Pmab, as well as variants with different sub-stituents at the 3R center. When incorporated into our peptidomimetic scaffold, these new Pmab analogues exhibit Plk1 PBD-binding affinities that are several-fold higher than Pmab, yet retain good selectivity for Plk1 relative to the PBDs of Plk2 and Plk3. These findings will significantly impact the future development of PBD-binding inhibitors, as well as ligands directed against a broad spectrum of pThr-dependent processes. C1 [Hymel, David; Burke, Terrence R., Jr.] NCI, Biol Chem Lab, NIH, 1050 Boyles St, Frederick, MD 21702 USA. RP Burke, TR (reprint author), NCI, Biol Chem Lab, NIH, 1050 Boyles St, Frederick, MD 21702 USA. EM burkete@helix.nih.gov FU Intramural Research Program of the NIH, Center for Cancer Research, National Cancer Institute, US National Institutes of Health FX This work was supported by the Intramural Research Program of the NIH, Center for Cancer Research, National Cancer Institute, US National Institutes of Health. We thank Prof. Erich Nigg (University of Basel, Switzerland) for generously providing plasmids encoding the PBDs of Plk 2 and 3. NR 29 TC 1 Z9 1 U1 3 U2 3 PU WILEY-V C H VERLAG GMBH PI WEINHEIM PA POSTFACH 101161, 69451 WEINHEIM, GERMANY SN 1860-7179 EI 1860-7187 J9 CHEMMEDCHEM JI ChemMedChem PD FEB 3 PY 2017 VL 12 IS 3 BP 202 EP 206 DI 10.1002/cmdc.201600574 PG 5 WC Chemistry, Medicinal; Pharmacology & Pharmacy SC Pharmacology & Pharmacy GA EL8WW UT WOS:000394902100002 PM 27992122 ER PT J AU Adomako-Ankomah, Y Chenoweth, MS Durfee, K Doumbia, S Konate, D Doumbouya, M Keita, AS Nikolaeva, D Tullo, GS Anderson, JM Fairhurst, RM Daniels, R Volkman, SK Diakite, M Miura, K Long, CA AF Adomako-Ankomah, Yaw Chenoweth, Matthew S. Durfee, Katelyn Doumbia, Saibou Konate, Drissa Doumbouya, Mory Keita, Abdoul S. Nikolaeva, Daria Tullo, Gregory S. Anderson, Jennifer M. Fairhurst, Rick M. Daniels, Rachel Volkman, Sarah K. Diakite, Mahamadou Miura, Kazutoyo Long, Carole A. TI High Plasmodium falciparum longitudinal prevalence is associated with high multiclonality and reduced clinical malaria risk in a seasonal transmission area of Mali SO PLOS ONE LA English DT Article ID POLYMERASE-CHAIN-REACTION; SENEGALESE CHILDREN; ENDEMIC AREA; INFECTION; COHORT; EPIDEMIOLOGY; POPULATION; PARASITES; COMPLEXITY; TRACKING AB The effects of persistent Plasmodium falciparum (Pf) infection and multiclonality on subsequent risk of clinical malaria have been reported, but the relationship between these 2 parameters and their relative impacts on the clinical outcome of infection are not understood. A longitudinal cohort study was conducted in a seasonal and high-transmission area of Mali, in which 500 subjects aged 1-65 years were followed for 1 year. Blood samples were collected every 2 weeks, and incident malaria cases were diagnosed and treated. Pf infection in each individual at each time point was assessed by species-specific nestedPCR, and Pf longitudinal prevalence per person (PfLP, proportion of Pf-positive samples over 1 year) was calculated. Multiclonality of Pf infection was measured using a 24-SNP DNA barcoding assay at 4 time-points (two in wet season, and two in dry season) over one year. PfLP was positively correlated with multiclonality at each time point (all r >= 0.36; all P <= 0.011). When host factors (e. g., age, gender), PfLP, and multiclonality (at the beginning of the transmission season) were analyzed together, only increasing age and high PfLP were associated with reduced clinical malaria occurrence or reduced number of malaria episodes (for both outcomes, P<0.001 for age, and P = 0.005 for PfLP). When age, PfLP and baseline Pf positivity were analyzed together, the effect of high PfLP remained significant even after adjusting for the other two factors (P = 0.001 for malaria occurrence and P<0.001 for number of episodes). In addition to host age and baseline Pf positivity, both of which have been reported as important modifiers of clinical malaria risk, our results demonstrate that persistent parasite carriage, but not baseline multiclonality, is associated with reduced risk of clinical disease in this population. Our study emphasizes the importance of considering repeated parasite exposure in future studies that evaluate clinical malaria risk. C1 [Adomako-Ankomah, Yaw; Chenoweth, Matthew S.; Nikolaeva, Daria; Tullo, Gregory S.; Anderson, Jennifer M.; Fairhurst, Rick M.; Miura, Kazutoyo; Long, Carole A.] NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD 20852 USA. [Durfee, Katelyn; Daniels, Rachel; Volkman, Sarah K.] Harvard TH Chan Sch Publ Hlth, Dept Immunol & Infect Dis, Boston, MA USA. [Doumbia, Saibou; Konate, Drissa; Doumbouya, Mory; Keita, Abdoul S.; Diakite, Mahamadou] Univ Sci Tech & Technol Bamako, Malaria Res & Training Ctr, Fac Med Pharm & Odontostomatol, Bamako, Mali. [Daniels, Rachel] Harvard Univ, Dept Organism & Evolutionary Biol, Cambridge, MA 02138 USA. [Daniels, Rachel; Volkman, Sarah K.] Broad Inst MIT & Harvard, Program Infect Dis, Cambridge, MA USA. [Volkman, Sarah K.] Simmons Coll, Sch Nursing & Hlth Sci, Boston, MA 02115 USA. RP Miura, K (reprint author), NIAID, Lab Malaria & Vector Res, NIH, Rockville, MD 20852 USA. EM kmiura@niaid.nih.gov FU National Institute of Allergy and Infectious Diseases National Institutes of Health; Bill and Melinda Gates Foundation, Seattle, WA [OPP1053604] FX This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases National Institutes of Health and the Bill and Melinda Gates Foundation, Seattle, WA [award no. OPP1053604]. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 41 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 3 PY 2017 VL 12 IS 2 AR e0170948 DI 10.1371/journal.pone.0170948 PG 15 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN7DG UT WOS:000396161700020 ER PT J AU Ji, JP Zhang, YP Redon, CE Reinhold, WC Chen, AP Fogli, LK Holbeck, SL Parchment, RE Hollingshead, M Tomaszewski, JE Dudon, Q Pommier, Y Doroshow, JH Bonner, WM AF Ji, Jiuping Zhang, Yiping Redon, Christophe E. Reinhold, William C. Chen, Alice P. Fogli, Laura K. Holbeck, Susan L. Parchment, Ralph E. Hollingshead, Melinda Tomaszewski, Joseph E. Dudon, Quentin Pommier, Yves Doroshow, James H. Bonner, William M. TI Phosphorylated fraction of H2AX as a measurement for DNA damage in cancer cells and potential applications of a novel assay SO PLOS ONE LA English DT Article ID POLY(ADP-RIBOSE) POLYMERASE; HISTONE VARIANTS; STRAND BREAKS; LINE SET; PHASE-I; GAMMA-H2AX; REPAIR; INHIBITOR; XENOGRAFTS; OLAPARIB AB Phosphorylated H2AX (gamma-H2AX) is a sensitive marker for DNA double-strand breaks (DSBs), but the variability of H2AX expression in different cell and tissue types makes it difficult to interpret the meaning of the gamma-H2AX level. Furthermore, the assays commonly used for gamma-H2AX detection utilize laborious and low-throughput microscopy-based methods. We describe here an ELISA assay that measures both phosphorylated H2AX and total H2AX absolute amounts to determine the percentage of gamma-H2AX, providing a normalized value representative of the amount of DNA damage. We demonstrate the utility of the assay to measure DSBs introduced by either ionizing radiation or DNA-damaging agents in cultured cells and in xenograft models. Furthermore, utilizing the NCI-60 cancer cell line panel, we show a correlation between the basal fraction of gamma-H2AX and cellular mutation levels. This additional application highlights the ability of the assay to measure gamma-H2AX levels in many extracts at once, making it possible to correlate findings with other cellular characteristics. Overall, the gamma-H2AX ELISA represents a novel approach to quantifying DNA damage, which may lead to a better understanding of mutagenic pathways in cancer and provide a useful biomarker for monitoring the effectiveness of DNA-damaging anticancer agents. C1 [Ji, Jiuping; Zhang, Yiping; Parchment, Ralph E.] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Appl Dev Res Directorate, Frederick, MD 21701 USA. [Redon, Christophe E.; Reinhold, William C.; Dudon, Quentin; Pommier, Yves; Doroshow, James H.; Bonner, William M.] NCI, Dev Therapeut Branch, Ctr Canc Res, Bethesda, MD 20892 USA. [Chen, Alice P.] NCI, Early Clin Trials Dev Program, Div Canc Treatment & Diag, Bethesda, MD 20892 USA. [Fogli, Laura K.; Holbeck, Susan L.; Hollingshead, Melinda; Tomaszewski, Joseph E.; Doroshow, James H.] NCI, Div Canc Treatment & Diag, Bethesda, MD 20892 USA. RP Ji, JP (reprint author), Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Appl Dev Res Directorate, Frederick, MD 21701 USA. EM jijiupi@mail.nih.gov FU National Cancer Institute, National Institutes of Health [HHSN261200800001E]; Intramural Research Program at the Center for Cancer Research at National Cancer Institute [Z01BC006150]; Radiation and Nuclear Countermeasures Program at the National Institute of Allergy and Infectious Diseases; federal government; Kelly Government Solutions, a division of Kelly Services FX This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract No. HHSN261200800001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the U.S. Government. This research was also supported by the Intramural Research Program at the Center for Cancer Research at National Cancer Institute [Z01BC006150] and by the Radiation and Nuclear Countermeasures Program at the National Institute of Allergy and Infectious Diseases. The Frederick National Laboratory for Cancer Research, which is funded by the federal government and operated by Leidos Biomedical Research, Inc., provided support in the form of salaries for authors J.J., Y.Z., and R.E.P. Leidos Biomedical Research, Inc., is prime contractor for the operation of Frederick National Laboratory and is therefore precluded from conducting any business that represents a conflict of interest with this contract. L.K.F., who is a government contractor at the National Cancer Institute, received support in the form of a salary from Kelly Government Solutions, a division of Kelly Services. The specific roles of all authors are articulated in the 'author contributions' section. The funders had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 52 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 3 PY 2017 VL 12 IS 2 AR e0171582 DI 10.1371/journal.pone.0171582 PG 18 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN7DG UT WOS:000396161700102 ER PT J AU Song, YR Sullivan, T Klarmann, K Gilbert, D O'Sullivan, TN Lu, L Wang, S Haines, DC Van Dyke, T Keller, JR AF Song, Yurong Sullivan, Teresa Klarmann, Kimberly Gilbert, Debra O'Sullivan, T. Norene Lu, Lucy Wang, Sophie Haines, Diana C. Van Dyke, Terry Keller, Jonathan R. TI RB inactivation in keratin 18 positive thymic epithelial cells promotes non-cell autonomous T cell hyperproliferation in genetically engineered mice SO PLOS ONE LA English DT Article ID HEMATOPOIETIC STEM-CELLS; DELTA-LIKE-1 IN-VITRO; DELTA-LIKE 4; LINEAGE COMMITMENT; CYCLIN D1; EXPRESSION; PRB; MICROENVIRONMENT; PROLIFERATION; HYPERPLASIA AB Thymic epithelial cells (TEC), as part of thymic stroma, provide essential growth factors/cytokines and self-antigens to support T cell development and selection. Deletion of Rb family proteins in adult thymic stroma leads to T cell hyperplasia in vivo. To determine whether deletion of Rb specifically in keratin (K) 18 positive TEC was sufficient for thymocyte hyperplasia, we conditionally inactivated Rb and its family members p107 and p130 in K18+ TEC in genetically engineered mice (TgK18GT(121); K18 mice). We found that thymocyte hyperproliferation was induced in mice with Rb inactivation in K18+ TEC, while normal T cell development was maintained; suggesting that inactivation of Rb specifically in K18+ TEC was sufficient and responsible for the phenotype. Transplantation of wild type bone marrow cells into mice with Rb inactivation in K18+ TEC resulted in donor T lymphocyte hyperplasia confirming the non-cell autonomous requirement for Rb proteins in K18+ TEC in regulating T cell proliferation. Our data suggests that thymic epithelial cells play an important role in regulating lymphoid proliferation and thymus size. C1 [Song, Yurong; Sullivan, Teresa; Klarmann, Kimberly; Gilbert, Debra; O'Sullivan, T. Norene; Lu, Lucy; Wang, Sophie; Van Dyke, Terry; Keller, Jonathan R.] NCI, Mouse Canc Genet Program, Ctr Canc Res, Frederick, MD 21701 USA. [Klarmann, Kimberly; Keller, Jonathan R.] Leidos Biomed Res Inc, Basic Sci Program, Frederick Natl Lab Canc Res, Frederick, MD 21701 USA. [Haines, Diana C.] Leidos Biomed Res Inc, Pathol Histotechnol Lab, Frederick Natl Lab Canc Res, Frederick, MD USA. RP Keller, JR (reprint author), NCI, Mouse Canc Genet Program, Ctr Canc Res, Frederick, MD 21701 USA.; Keller, JR (reprint author), Leidos Biomed Res Inc, Basic Sci Program, Frederick Natl Lab Canc Res, Frederick, MD 21701 USA. EM kellerjo@mail.nih.gov FU Frederick National Laboratory for Cancer Research, NIH [HHSN261200800001E]; National Cancer Institute (NCI) [NCI CA084314, CA046283]; DOD [PC040619, PC050306]; Prostate Cancer Foundation FX This work was supported in part with Federal funds from the Frederick National Laboratory for Cancer Research, NIH, under Contract HHSN261200800001E (https://frederick.cancer.gov/), and in part with research funding from National Cancer Institute (NCI, https://www.cancer.gov/), and NCI CA084314 and CA046283 (https://www.cancer.gov/), DOD PC040619 (http://www.defense.gov/), Prostate Cancer Foundation to TVD (http://www.pcf.org/), and DOD PC050306 to YS (http://www.defense.gov/). The funders including Frederick National Laboratory operated by Leidos Biomedical Research, Inc. had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products or organizations imply endorsements by the US Government. NR 52 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 3 PY 2017 VL 12 IS 2 AR e0171510 DI 10.1371/journal.pone.0171510 PG 16 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN7DG UT WOS:000396161700088 ER PT J AU Chan, GNY Evans, RA Banks, DB Mesev, EV Miller, DS Cannon, RE AF Chan, Gary N. Y. Evans, Rebecca A. Banks, David B. Mesev, Emily V. Miller, David S. Cannon, Ronald E. TI Selective induction of P-glycoprotein at the CNS barriers during symptomatic stage of an ALS animal model SO NEUROSCIENCE LETTERS LA English DT Article DE P-glycoprotein; Breast cancer resistance protein; Multidrug resistance-associated protein 2; Blood-brain barrier; Blood-spinal cord barrier; Amyotrophic lateral sclerosis ID BLOOD-BRAIN-BARRIER; SPINAL CORD BARRIER; AMYOTROPHIC-LATERAL-SCLEROSIS; DRUG EFFLUX TRANSPORTERS; IN-VIVO; EXPRESSION; RILUZOLE; PROTEIN; INCREASE; PATHWAY AB P-glycoprotein (P-gp), Breast cancer resistance protein (BCRP) and Multidrug resistance-associated protein 2 (MRP2) residing at the blood-brain barrier (BBB) and the blood-spinal cord barrier (BSCB) are major obstacles for drug delivery to the Central Nervous System (CNS). Disease-induced changes of these xenobiotic transporters at the CNS barriers have been previously documented. Changes in the functional expression of these transporters at the CNS barriers would limit the clinical efficacy of therapeutic agents targeting the CNS. In this study, we characterized the changes in expression and efflux activity of P-gp, BCRP and MRP2 at the BBB and BSCB of an amyotrophic lateral sclerosis (ALS) SOD1-G93A transgenic rat model across the three stages of disease progression: pre-onset, onset and symptomatic. Up-regulation of P-gp and BCRP at the BBB and BSCB during disease progression of ALS would reduce drug entry to the CNS, while any decreases in transport activity would increase drug entry. In SOD rats at the ALS symptomatic stage, we observed increases in both P-gp transport activity and expression compared to age-matched wildtypes. BCRP and MRP2 levels were unchanged in these animals. Immunohistochemical analysis in brain and spinal cord capillaries of SOD rats from all three ALS stages and age-matched wildtypes showed no differences in nuclear localization of a known P-gp regulator, nuclear factor kappa light -chain-enhancer of activated B cells (NF kappa B). It suggests that NF kappa B may have a limited role during P-gp induction observed in our study and additional signaling pathways could be responsible for this response. Our observations imply that novel pharmacological approaches for treating ALS require selecting drugs that are not P-gp substrates in order to improve therapeutic efficacy in the CNS during ALS progression. Published by Elsevier Ireland Ltd. C1 [Chan, Gary N. Y.; Evans, Rebecca A.; Banks, David B.; Mesev, Emily V.; Miller, David S.; Cannon, Ronald E.] NIEHS, Signal Transduct Lab, 111 TW Alexander Dr, Res Triangle Pk, NC 27709 USA. RP Cannon, RE (reprint author), NIEHS, Signal Transduct Lab, 111 TW Alexander Dr, Res Triangle Pk, NC 27709 USA. EM cannon1@niehs.nih.gov FU Target ALS; Intramural Research Program of the NIH, National Institute of Environmental Health FX The authors thank Joyce Blaisdell and staff at the NIEHS animal facility for their assistance in providing excellent care to all rats used in this study. This research was supported (in part) by Target ALS and the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences. NR 26 TC 0 Z9 0 U1 6 U2 6 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0304-3940 EI 1872-7972 J9 NEUROSCI LETT JI Neurosci. Lett. PD FEB 3 PY 2017 VL 639 BP 103 EP 113 DI 10.1016/j.neulet.2016.12.049 PG 11 WC Neurosciences SC Neurosciences & Neurology GA EK0RS UT WOS:000393635400018 PM 28011392 ER PT J AU Jeong, YH Ling, JP Lin, SZ Donde, AN Braunstein, KE Majounie, E Traynor, BJ LaClair, KD Lloyd, TE Wong, PC AF Jeong, Yun Ha Ling, Jonathan P. Lin, Sophie Z. Donde, Aneesh N. Braunstein, Kerstin E. Majounie, Elisa Traynor, Bryan J. LaClair, Katherine D. Lloyd, Thomas E. Wong, Philip C. TI Tdp-43 cryptic exons are highly variable between cell types SO MOLECULAR NEURODEGENERATION LA English DT Article DE TDP-43-Nonconserved cryptic exons; Bioinformatics; Amyotrophic lateral sclerosis; Frontotemporal dementia; Inclusion body myositis ID AMYOTROPHIC-LATERAL-SCLEROSIS; FRONTOTEMPORAL LOBAR DEGENERATION; INCLUSION-BODY MYOSITIS; HEXANUCLEOTIDE REPEAT; ALZHEIMERS-DISEASE; ALS-FTD; PROTEIN; RNA; DEPLETION; DEMENTIA AB Background: TDP-43 proteinopathy is a prominent pathological feature that occurs in a number of human diseases including amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD), and inclusion body myositis (IBM). Our recent finding that TDP-43 represses nonconserved cryptic exons led us to ask whether cell type-specific cryptic exons could exist to impact unique molecular pathways in brain or muscle. Methods: In the present work, we investigated TDP-43's function in various mouse tissues to model disease pathogenesis. We generated mice to conditionally delete TDP-43 in excitatory neurons or skeletal myocytes and identified the cell type-specific cryptic exons associated with TDP-43 loss of function. Results: Comparative analysis of nonconserved cryptic exons in various mouse cell types revealed that only some cryptic exons were common amongst stem cells, neurons, and myocytes; the majority of these nonconserved cryptic exons were cell type-specific. Conclusions: Our results suggest that in human disease, TDP-43 loss of function may impair cell type-specific pathways. C1 [Jeong, Yun Ha; Ling, Jonathan P.; Lin, Sophie Z.; Donde, Aneesh N.; Braunstein, Kerstin E.; LaClair, Katherine D.; Wong, Philip C.] Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA. [Donde, Aneesh N.; Lloyd, Thomas E.; Wong, Philip C.] Johns Hopkins Univ, Sch Med, Dept Neurosci, Baltimore, MD 21205 USA. [Traynor, Bryan J.; Lloyd, Thomas E.] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA. [Majounie, Elisa; Traynor, Bryan J.] NIA, Lab Neurogenet, NIH, Bethesda, MD 20892 USA. [Jeong, Yun Ha] Korea Brain Res Inst, Neural Dev & Dis Dept, Daegu 701300, South Korea. [Majounie, Elisa] Cardiff Univ, Inst Psychol Med & Clin Neurosci, Sch Med, Cardiff CF24 4HQ, S Glam, Wales. RP Wong, PC (reprint author), Johns Hopkins Univ, Sch Med, Dept Pathol, Baltimore, MD 21205 USA. EM wong@jhmi.edu OI Ling, Jonathan/0000-0003-1927-9729 FU Robert Packard Center for ALS Research; Amyotrophic Lateral Sclerosis Association; Target ALS; JHU Neuropathology Pelda fund; DoD grant [W81XWH1110449]; Korea Brain Research Institute basic research program Grant [2231-415]; McKnight Memory and Cognitive Disorders Award; NIH grant [R01-NS095969] FX This work was supported in part by The Robert Packard Center for ALS Research, the Amyotrophic Lateral Sclerosis Association, Target ALS, the JHU Neuropathology Pelda fund, DoD grant W81XWH1110449, Korea Brain Research Institute basic research program Grant No. 2231-415 (to YHJ), the McKnight Memory and Cognitive Disorders Award, and NIH grant R01-NS095969. NR 42 TC 1 Z9 1 U1 0 U2 0 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 1750-1326 J9 MOL NEURODEGENER JI Mol. Neurodegener. PD FEB 2 PY 2017 VL 12 AR 13 DI 10.1186/s13024-016-0144-x PG 9 WC Neurosciences SC Neurosciences & Neurology GA EN9AR UT WOS:000396291900001 PM 28153034 ER PT J AU Grever, MR Abdel-Wahab, O Andritsos, LA Banerji, V Barrientos, J Blachly, JS Call, TG Catovsky, D Dearden, C Demeter, J Else, M Forconi, F Gozzetti, A Ho, AD Johnston, JB Jones, J Juliusson, G Kraut, E Kreitman, RJ Larratt, L Lauria, F Lozanski, G Montserrat, E Parikh, SA Park, JH Polliack, A Quest, GR Rai, KR Ravandi, F Robak, T Saven, A Seymour, JF Tadmor, T Tallman, MS Tam, C Tiacci, E Troussard, X Zent, CS Zenz, T Zinzani, PL Falini, B AF Grever, Michael R. Abdel-Wahab, Omar Andritsos, Leslie A. Banerji, Versha Barrientos, Jacqueline Blachly, James S. Call, Timothy G. Catovsky, Daniel Dearden, Claire Demeter, Judit Else, Monica Forconi, Francesco Gozzetti, Alessandro Ho, Anthony D. Johnston, James B. Jones, Jeffrey Juliusson, Gunnar Kraut, Eric Kreitman, Robert J. Larratt, Loree Lauria, Francesco Lozanski, Gerard Montserrat, Emili Parikh, Sameer A. Park, Jae H. Polliack, Aaron Quest, Graeme R. Rai, Kanti R. Ravandi, Farhad Robak, Tadeusz Saven, Alan Seymour, John F. Tadmor, Tamar Tallman, Martin S. Tam, Constantine Tiacci, Enrico Troussard, Xavier Zent, Clive S. Zenz, Thorsten Zinzani, Pier Luigi Falini, Brunangelo TI Consensus guidelines for the diagnosis and management of patients with classic hairy cell leukemia SO BLOOD LA English DT Review ID TERM-FOLLOW-UP; MINIMAL RESIDUAL DISEASE; BRAF V600E MUTATION; LYMPHOPROLIFERATIVE DISORDERS; RECOMBINANT IMMUNOTOXIN; INHIBITOR DABRAFENIB; 2ND MALIGNANCIES; RAPID RESPONSE; CLADRIBINE; 2-CHLORODEOXYADENOSINE AB Hairy cell leukemia is an uncommon hematologic malignancy characterized by pancytopenia and marked susceptibility to infection. Tremendous progress in the management of patients with this disease has resulted in high response rates and improved survival, yet relapse and an appropriate approach to retreatment present continuing areas for research. The disease and its effective treatment are associated with immunosuppression. Because more patients are being treated with alternative programs, comparison of results will require general agreement on definitions of response, relapse, and methods of determining minimal residual disease. The development of internationally accepted, reproducible criteria is of paramount importance in evaluating and comparing clinical trials to provide optimal care. Despite the success achieved in managing these patients, continued participation in available clinical trials in the firstline and particularly in the relapse setting is highly recommended. The Hairy Cell Leukemia Foundation convened an international conference to provide common definitions and structure to guide current management. There is substantial opportunity for continued research in this disease. In addition to the importance of optimizing the prevention and management of the serious risk of infection, organized evaluations of minimal residual disease and treatment at relapse offer ample opportunities for clinical research. Finally, a scholarly evaluation of quality of life in the increasing number of survivors of this now manageable chronic illness merits further study. The development of consensus guidelines for this disease offers a framework for continued enhancement of the outcome for patients. C1 [Grever, Michael R.; Barrientos, Jacqueline; Catovsky, Daniel; Kraut, Eric; Lauria, Francesco] Ohio State Univ, James Canc Hosp, Dept Internal Med, Div Hematol, Columbus, OH 43210 USA. [Abdel-Wahab, Omar; Andritsos, Leslie A.; Barrientos, Jacqueline; Dearden, Claire; Ho, Anthony D.; Juliusson, Gunnar] Mem Sloan Kettering Canc Ctr, Dept Med, Leukemia Serv, New York, NY USA. [Banerji, Versha; Demeter, Judit; Johnston, James B.; Kreitman, Robert J.; Tadmor, Tamar; Tiacci, Enrico] Univ Manitoba, Hematol Oncol Sect, Winnipeg, MB, Canada. [Else, Monica; Kreitman, Robert J.; Lozanski, Gerard] Hofstra Univ, Hofstra N Shore Long Isl Jewish Sch Med, Dept Med, Hempstead, NY USA. [Blachly, James S.; Forconi, Francesco; Ho, Anthony D.; Rai, Kanti R.; Tallman, Martin S.; Zent, Clive S.; Falini, Brunangelo] Mayo Clin, Div Hematol, Rochester, MN USA. [Barrientos, Jacqueline; Blachly, James S.; Jones, Jeffrey; Kreitman, Robert J.] Inst Canc Res, Div Mol Pathol, London, England. [Montserrat, Emili] Dept Haemato Oncol, Royal Marsden Biomed Res Ctr, London, England. [Catovsky, Daniel; Kraut, Eric; Montserrat, Emili] Semmelweis Univ, Dept Internal Med 1, Budapest, Hungary. [Jones, Jeffrey] Univ Hosp Trust, Dept Haematol, Southampton, Hants, England. [Forconi, Francesco; Kraut, Eric; Larratt, Loree; Lauria, Francesco] Canc Res UK, Canc Sci Unit, Southampton, Hants, England. [Blachly, James S.; Dearden, Claire; Ho, Anthony D.; Larratt, Loree; Lauria, Francesco] Univ Southampton, Fac Med, Expt Canc Med Ctr, Natl Inst Hlth Res Expt, Southampton, Hants, England. [Blachly, James S.; Forconi, Francesco; Johnston, James B.] Univ Senese, Hematol, Azienda Osped, Siena, Italy. [Barrientos, Jacqueline; Gozzetti, Alessandro] Heidelberg Univ, Dept Med 5, Heidelberg, Germany. [Montserrat, Emili] Lund Univ, Sk ane Univ Hosp & Stem Cell Ctr, Dept Hematol, Lund, Sweden. [Demeter, Judit; Ho, Anthony D.; Jones, Jeffrey; Kreitman, Robert J.; Larratt, Loree] NCI, Mol Biol Lab, NIH, Bethesda, MD 20892 USA. [Andritsos, Leslie A.; Gozzetti, Alessandro; Jones, Jeffrey] Univ Alberta, Dept Med, Edmonton, AB, Canada. [Quest, Graeme R.; Ravandi, Farhad; Tiacci, Enrico] Ohio State Univ, Dept Pathol, Columbus, OH USA. [Kreitman, Robert J.; Parikh, Sameer A.] Univ Barcelona, Hosp Clin, Dept Hematol, Barcelona, Spain. [Banerji, Versha; Dearden, Claire; Ho, Anthony D.] Hadassah Univ Hosp, Dept Hematol, Jerusalem, Israel. [Kraut, Eric; Parikh, Sameer A.] Hebrew Univ Jerusalem, Sch Med, Jerusalem, Israel. [Barrientos, Jacqueline; Call, Timothy G.; Kreitman, Robert J.] Univ Hlth Network, Dept Lab Med & Pathol, Toronto, ON, Canada. [Dearden, Claire; Ho, Anthony D.; Larratt, Loree] Univ Texas MD Anderson Canc Ctr, Dept Leukemia, Sect Dev Therapeut, Houston, TX USA. [Lauria, Francesco] Med Univ Lodz, Dept Hematol, Lodz, Poland. [Call, Timothy G.; Jones, Jeffrey; Kraut, Eric; Larratt, Loree; Montserrat, Emili] Scripps Clin, Div Hematol & Oncol, La Jolla, CA USA. [Kreitman, Robert J.] Univ Melbourne, Dept Haematol, Peter MacCallum Canc Ctr, Melbourne, Vic, Australia. [Gozzetti, Alessandro; Johnston, James B.; Kreitman, Robert J.] Techn Inst Technol, Hematol Unit Bnai Zion Med Ctr, Haifa, Israel. [Barrientos, Jacqueline; Juliusson, Gunnar; Montserrat, Emili] Techn Inst Technol, Rappaport Fac Med, Haifa, Israel. [Jones, Jeffrey; Larratt, Loree] Univ & Hosp Perugia, Inst Hematol, Dept Med, Perugia, Italy. [Gozzetti, Alessandro; Juliusson, Gunnar] Ctr Hosp Univ Cote Nacre, Dept Hematol, Caen, France. [Juliusson, Gunnar] Univ Rochester, James P Wilmot Canc Inst, Med Ctr, Rochester, NY USA. [Tiacci, Enrico; Zenz, Thorsten] Natl Ctr Tumor Dis, Dept Mol Therapy Hematol & Oncol, Heidelberg, Germany. [Johnston, James B.; Larratt, Loree; Lozanski, Gerard] German Canc Res Ctr, Heidelberg, Germany. [Johnston, James B.; Jones, Jeffrey] Univ Bologna, Inst Hematol Seragnoli, Bologna, Italy. RP Grever, MR (reprint author), Ohio State Univ, James Canc Hosp, Dept Internal Med, Div Hematol, Columbus, OH 43210 USA. EM michael.grever@osumc.edu OI Forconi, Francesco/0000-0002-2211-1831; Gozzetti, Alessandro/0000-0003-0769-6891 FU Sanofi; Roche; Pharmacyclics for a hairy cell leukemia clinical trial; MedImmune; GlaxoSmithKline; Novartis; Genzyme; Biothera FX L.A.A. received research support from Sanofi; V.B. consulted for Roche, Lundbeck, Gilead, and Janssen (all related to chronic lymphocytic leukemia); C.D. is on an advisory board/receives honoraria from Roche, Medimmune, Gilead, Janssen, and AbbVie; B.F. along with E.T. filed a patent on the discovery of BRAF mutation in hairy cell leukemia and received research funding from Roche; F. F. is on an advisory board for Infinity and has received honoraria from Gilead, AbbVie, and Janssen; M.R.G. serves on an advisory board regarding ibrutinib for Pharmacyclics and a data safety monitoring board for Acerta; A.D.H. serves on an advisory committee/board for Daimler and Benz Foundation and forGenzyme-Sanofi and Roche and has received research funding from Sanofi; J. J. has received research funding and drugs ( ibrutinib) from Pharmacyclics for a hairy cell leukemia clinical trial; G. J. has advised Merck and EMD Serono regarding cladribine in multiple sclerosis; S. A. P. has received research funding from Pharmacyclics; F.R. has received research funding from MedImmune; J. F. S. has received honoraria and travel support from and participated in a speaker's bureau for Roche; C.T. has received honorarium and research funding from Janssen-Cilag and AbbVie; X.T. had research funding from Roche and received honoraria or served as advisor or consultant for Roche and Gilead; C. S. Z. had research funding from GlaxoSmithKline, Novartis, Genzyme, and Biothera; P. L. Z. has consulted for Bayer AG, Sandoz, and Morphosis; has participated in a speaker's bureau for Celgene, Pfizer, Takeda, Gilead, Janssen, and Teva; has received honoraria from Celgene, Roche, Teva, Gilead, Janssen, Takeda, and Pfizer; and has participated in advisory boards for Bayer AG, Celgene, Roche, Gilead, Janssen, Takeda, and TG Pharmaceuticals. The remaining authors declare no competing financial interests. NR 80 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD FEB 2 PY 2017 VL 129 IS 5 BP 553 EP 560 DI 10.1182/blood-2016-01-689422 PG 8 WC Hematology SC Hematology GA EO9NT UT WOS:000397016100006 PM 27903528 ER PT J AU Walter, R Pan, KT Doebele, C Comoglio, F Tomska, K Bohnenberger, H Young, RM Jacobs, L Keller, U Bonig, H Engelke, M Rosenwald, A Urlaub, H Staudt, LM Serve, H Zenz, T Oellerich, T AF Walter, Roland Pan, Kuan-Ting Doebele, Carmen Comoglio, Federico Tomska, Katarzyna Bohnenberger, Hanibal Young, Ryan M. Jacobs, Laura Keller, Ulrich Boenig, Halvard Engelke, Michael Rosenwald, Andreas Urlaub, Henning Staudt, Louis M. Serve, Hubert Zenz, Thorsten Oellerich, Thomas TI HSP90 promotes Burkitt lymphoma cell survival by maintaining tonic B-cell receptor signaling SO BLOOD LA English DT Article ID I DOSE-ESCALATION; BREAST-CANCER; TYROSINE PHOSPHORYLATION; RESISTANCE; INHIBITOR; GENE; COMBINATION; PROTEOMICS; MUTATIONS; LEUKEMIA AB Burkitt lymphoma (BL) is an aggressive B-cell neoplasmthat is currently treated by intensive chemotherapy in combination with anti-CD20 antibodies. Because of their toxicity, current treatment regimens are often not suitable for elderly patients or for patients in developing countries where BL is endemic. Targeted therapies for BL are therefore needed. In this study, we performed a compound screen in 17 BL cell lines to identify small molecule inhibitors affecting cell survival. We found that inhibitors of heat shock protein 90 (HSP90) induced apoptosis in BL cells in vitro at concentrations that did not affect normal B cells. By global proteomic and phosphoproteomic profiling, we show that, in BL, HSP90 inhibition compromises the activity of the pivotal B-cell antigen receptor (BCR)-proximal effector spleen tyrosine kinase (SYK), whichwe identified as an HSP90 client protein. Consistently, expression of constitutively active TEL-SYK counteracted the apoptotic effect of HSP90 inhibition. Together, our results demonstrate that HSP90 inhibition impairs BL cell survival by interfering with tonic BCR signaling, thus providing a molecular rationale for the use of HSP90 inhibitors in the treatment of BL. C1 [Walter, Roland; Doebele, Carmen; Serve, Hubert; Oellerich, Thomas] Goethe Univ, Dept Med Hematol Oncol, Frankfurt, Germany. [Pan, Kuan-Ting; Urlaub, Henning] Max Planck Inst Biophys Chem, Bioanalyt Mass Spectrometry Grp, Gottingen, Germany. [Comoglio, Federico; Oellerich, Thomas] Univ Cambridge, Dept Haematol, Cambridge, England. [Comoglio, Federico; Oellerich, Thomas] Cambridge Inst Med Res, Wellcome Trust Med Res Council Stem Cell Inst, Cambridge, England. [Tomska, Katarzyna; Zenz, Thorsten] Natl Ctr Tumor Dis, Dept Translat Oncol, Mol Therapy Haematol & Oncol, Heidelberg, Germany. [Tomska, Katarzyna; Zenz, Thorsten] German Canc Res Ctr, Heidelberg, Germany. [Bohnenberger, Hanibal] Univ Med Ctr Gottingen, Inst Pathol, Gottingen, Germany. [Young, Ryan M.; Staudt, Louis M.] Natl Canc Inst, NIH, Ctr Canc Res, Lymphoid Malignancies Branch, Bethesda, MD USA. [Jacobs, Laura; Keller, Ulrich] Tech Univ Munich, Dept Med 3, Munich, Germany. [Boenig, Halvard] Goethe Univ, Inst Transfus Med & Immunohematol, Frankfurt, Germany. [Engelke, Michael] Univ Med Ctr Gottingen, Inst Cellular & Mol Immunol, Gottingen, Germany. [Rosenwald, Andreas] Univ Wurzburg, Inst Pathol, Wurzburg, Germany. [Rosenwald, Andreas] Comprehens Canc Ctr Mainfranken, Wurzburg, Germany. [Urlaub, Henning] Univ Med Ctr Gottingen, Bioanalyt, Gottingen, Germany. [Serve, Hubert; Zenz, Thorsten; Oellerich, Thomas] German Canc Res Ctr, German Canc Consortium, Heidelberg, Germany. Heidelberg Univ, Med Ctr, Dept Med 5, Heidelberg, Germany. [Zenz, Thorsten] European Mol Biol Lab, Heidelberg, Germany. RP Oellerich, T (reprint author), Dept Med II, Hematol Oncol, Theodor Stern Kai 7, D-60590 Frankfurt, Germany. EM thomas.oellerich@kgu.de OI Pan, Kuan-Ting/0000-0001-6974-5324 FU Deutsche Krebshilfe [111399]; European Molecular Biology Organization (EMBO) long-term fellowship [1305-2015]; European Molecular Biology Organization (EMBO) long-term fellowship (Marie Curie Actions) [LTFCOFUND2013/GA-2013-609409]; Bloodwise [13003]; Wellcome Trust [104710/Z/14/Z]; Medical Research Council; Kay Kendall Leukaemia Fund; Cambridge National Institute for Health Research Biomedical Research Center; Cambridge Experimental Cancer Medicine Centre; Leukemia and Lymphoma Society of America [07037]; Wellcome Trust FX This work was supported by grants from the Deutsche Krebshilfe (111399) (T.O. and M.E.), and a European Molecular Biology Organization (EMBO) long-term fellowship (1305-2015 and Marie Curie Actions LTFCOFUND2013/GA-2013-609409) (F.C.). Work in the Department of Haematology in Cambridge is supported by grants from Bloodwise (13003), the Wellcome Trust (104710/Z/14/Z), the Medical Research Council, the Kay Kendall Leukaemia Fund, the Cambridge National Institute for Health Research Biomedical Research Center, the Cambridge Experimental Cancer Medicine Centre, the Leukemia and Lymphoma Society of America (07037), and a core support grant from the Wellcome Trust and Medical Research Council to the Wellcome Trust Medical Research Council Cambridge Stem Cell Institute. NR 35 TC 1 Z9 1 U1 1 U2 1 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD FEB 2 PY 2017 VL 129 IS 5 BP 598 EP 608 DI 10.1182/blood-2016-06-721423 PG 11 WC Hematology SC Hematology GA EO9NT UT WOS:000397016100012 PM 28064214 ER PT J AU Ma, CA Xi, LQ Cauff, B DeZure, A Freeman, AF Hambleton, S Kleiner, G Leahy, TR O'Sullivan, M Makiya, M O'Regan, G Pittaluga, S Niemela, J Stoddard, J Rosenzweig, SD Raffeld, M Klion, AD Milner, JD AF Ma, Chi A. Xi, Liqiang Cauff, Brian DeZure, Adam Freeman, Alexandra F. Hambleton, Sophie Kleiner, Gary Leahy, T. Ronan O'Sullivan, Maureen Makiya, Michelle O'Regan, Grainne Pittaluga, Stefania Niemela, Julie Stoddard, Jennifer Rosenzweig, Sergio D. Raffeld, Mark Klion, Amy D. Milner, Joshua D. TI Somatic STAT5b gain-of-function mutations in early onset nonclonal eosinophilia, urticaria, dermatitis, and diarrhea SO BLOOD LA English DT Letter ID GRANULAR LYMPHOCYTIC-LEUKEMIA; T-CELL LYMPHOMAS C1 [Ma, Chi A.; Milner, Joshua D.] Natl Inst Allergy & Infect Dis, Natl Inst Hlth, Lab Allerg Dis, Bethesda, MD USA. [Xi, Liqiang; Raffeld, Mark] Natl Canc Inst, Natl Inst Hlth, Mol Diagnost Sect, Pathol Lab, Bethesda, MD USA. [Cauff, Brian] Joe DiMaggio Childrens Hosp, Ctr Canc & Blood Disorders, Miami, FL USA. [DeZure, Adam] Vaccine Res Ctr, New York, NY USA. [Freeman, Alexandra F.] Natl Inst Allergy & Infect Dis, Natl Inst Hlth, Lab Clin Infect Dis, Bethesda, MD USA. [Hambleton, Sophie] Newcastle Univ & Great N Childrens Hosp, Newcastle Upon Tyne, Tyne & Wear, England. [Kleiner, Gary] Univ ofMiami Miller Sch Med, Pediat Allergy & Immunol, Miami, FL USA. [Leahy, T. Ronan; O'Sullivan, Maureen] Our Ladys Childrens Hosp, Crumlin, Dublin, Ireland. [Makiya, Michelle; Klion, Amy D.] Natl Inst Allergy & Infect Dis, Natl Inst Hlth, Parasit Dis Lab, Bethesda, MD USA. [Niemela, Julie; Stoddard, Jennifer; Rosenzweig, Sergio D.] Natl Inst Hlth, Dept Lab Med, Ctr Clin, Bethesda, MD USA. [Klion, Amy D.] Natl Inst Allergy & Infect Dis, Parasit Dis Lab, Bethesda, MD 20892 USA. [Milner, Joshua D.] Natl Inst Allergy & Infect Dis, Room 11N240, Rockville 9000, MD USA. RP Klion, AD (reprint author), Natl Inst Allergy & Infect Dis, Parasit Dis Lab, Bethesda, MD 20892 USA.; Milner, JD (reprint author), Natl Inst Allergy & Infect Dis, Room 11N240, Rockville 9000, MD USA. EM aklion@niaid.nih.gov; jdmilner@niaid.nih.gov FU National Institute of Allergy and Infectious Diseases, National Institutes of Health FX This work was supported by the intramural program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. NR 13 TC 0 Z9 0 U1 2 U2 2 PU AMER SOC HEMATOLOGY PI WASHINGTON PA 2021 L ST NW, SUITE 900, WASHINGTON, DC 20036 USA SN 0006-4971 EI 1528-0020 J9 BLOOD JI Blood PD FEB 2 PY 2017 VL 129 IS 5 BP 650 EP 653 DI 10.1182/blood-2016-09-737817 PG 4 WC Hematology SC Hematology GA EO9NT UT WOS:000397016100017 PM 27956386 ER PT J AU Salka, K Bhuvanendran, S Wilson, K Bozidis, P Mehta, M Rainey, K Sesaki, H Patterson, GH Jaiswal, JK Colberg-Poley, AM AF Salka, Kyle Bhuvanendran, Shivaprasad Wilson, Kassandra Bozidis, Petros Mehta, Mansi Rainey, Kristin Sesaki, Hiromi Patterson, George H. Jaiswal, Jyoti K. Colberg-Poley, Anamaris M. TI Superresolution Imaging Identifies That Conventional Trafficking Pathways Are Not Essential for Endoplasmic Reticulum to Outer Mitochondrial Membrane Protein Transport SO SCIENTIFIC REPORTS LA English DT Article ID CYTOMEGALOVIRUS UL37 PROTEINS; IMPORT RECEPTOR TOM20; MAMMALIAN-CELLS; ESTER BIOSYNTHESIS; VMIA; MICROSCOPY; APOPTOSIS; FUSION; PACS-2; MORPHOGENESIS AB Most nuclear-encoded mitochondrial proteins traffic from the cytosol to mitochondria. Some of these proteins localize at mitochondria-associated membranes (MAM), where mitochondria are closely apposed with the endoplasmic reticulum (ER). We have previously shown that the human cytomegalovirus signal-anchored protein known as viral mitochondria-localized inhibitor of apoptosis (vMIA) traffics from the ER to mitochondria and clusters at the outer mitochondrial membrane (OMM). Here, we have examined the host pathways by which vMIA traffics from the ER to mitochondria and clusters at the OMM. By disruption of phosphofurin acidic cluster sorting protein 2 (PACS-2), mitofusins (Mfn1/2), and dynamin related protein 1 (Drp1), we find these conventional pathways for ER to the mitochondria trafficking are dispensable for vMIA trafficking to OMM. Instead, mutations in vMIA that change its hydrophobicity alter its trafficking to mitochondria. Superresolution imaging showed that PACS-2- and Mfn-mediated membrane apposition or hydrophobic interactions alter vMIA's ability to organize in nanoscale clusters at the OMM. This shows that signal-anchored MAM proteins can make use of hydrophobic interactions independently of conventional ER-mitochondria pathways to traffic from the ER to mitochondria. Further, vMIA hydrophobic interactions and ER-mitochondria contacts facilitate proper organization of vMIA on the OMM. C1 [Salka, Kyle; Bhuvanendran, Shivaprasad; Wilson, Kassandra; Bozidis, Petros; Mehta, Mansi; Jaiswal, Jyoti K.; Colberg-Poley, Anamaris M.] Childrens Natl Hlth Syst, Med Genet Res Ctr, 111 Michigan Ave NW, Washington, DC 20010 USA. [Bozidis, Petros] Univ Ioannina, Sch Hlth Sci, Dept Med, Microbiol Lab, Ioannina 45500, Greece. [Rainey, Kristin; Patterson, George H.] Natl Inst Biomed Imaging & Bioengn, Sect Biophoton, NIH, Bethesda, MD 20892 USA. [Sesaki, Hiromi] Johns Hopkins Univ, Sch Med, Dept Cell Biol, Hunterian 111,725 N Wolfe St, Baltimore, MD 21205 USA. [Jaiswal, Jyoti K.; Colberg-Poley, Anamaris M.] George Washington Univ, Sch Med & Hlth Sci, Dept Integrat Syst Biol & Pediat, Washington, DC 20037 USA. [Colberg-Poley, Anamaris M.] George Washington Univ, Sch Med & Hlth Sci, Dept Biochem & Mol Med, Washington, DC 20037 USA. [Colberg-Poley, Anamaris M.] George Washington Univ, Sch Med & Hlth Sci, Dept Microbiol, Washington, DC 20037 USA. [Colberg-Poley, Anamaris M.] George Washington Univ, Sch Med & Hlth Sci, Dept Immunol & Trop Med, Washington, DC 20037 USA. RP Jaiswal, JK; Colberg-Poley, AM (reprint author), Childrens Natl Hlth Syst, Med Genet Res Ctr, 111 Michigan Ave NW, Washington, DC 20010 USA.; Jaiswal, JK; Colberg-Poley, AM (reprint author), George Washington Univ, Sch Med & Hlth Sci, Dept Integrat Syst Biol & Pediat, Washington, DC 20037 USA.; Colberg-Poley, AM (reprint author), George Washington Univ, Sch Med & Hlth Sci, Dept Biochem & Mol Med, Washington, DC 20037 USA.; Colberg-Poley, AM (reprint author), George Washington Univ, Sch Med & Hlth Sci, Dept Microbiol, Washington, DC 20037 USA.; Colberg-Poley, AM (reprint author), George Washington Univ, Sch Med & Hlth Sci, Dept Immunol & Trop Med, Washington, DC 20037 USA. EM jkjaiswal@childrensnational.org; acolberg-poley@childrensnational.org FU NSF grant (MCB) [1244509]; Intramural Research Program of the National Institutes of Health; National Institute of Biomedical Imaging and Bioengineering; NIH [P30HD40677] FX This work was funded by the NSF grant (MCB 1244509) to A.C.-P. and J.K.J., and by the Intramural Research Program of the National Institutes of Health, including the National Institute of Biomedical Imaging and Bioengineering, to G.H.P. The CRI microscopy imaging core was supported by the NIH grant P30HD40677. We thank Dr. Gary Thomas for the gift of the PACS-2 null MEFs, parental MEFs and PACS-2-YFP plasmid and anti-PACS-2 antiserum, Dr. David Chan for the Mfn1/2 null MEFs and parental MEFs and Dr. Richard Youle for the Mfn2- YFP vector. Dr. Trevor Lithgow provided mouse Tom20-YFP and Dr. Gia Voeltz provided mCherry-Drp1. We thank Dr. Andrew York and Dr. Hari Shroff for sharing MSIM analysis and deconvolution software. NR 60 TC 0 Z9 0 U1 9 U2 9 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 2 PY 2017 VL 7 AR 16 DI 10.1038/s41598-017-00039-5 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EO6UU UT WOS:000396828800001 PM 28154412 ER PT J AU Chereji, RV Ocampo, J Clark, DJ AF Chereji, Razvan V. Ocampo, Josefina Clark, David J. TI MNase-Sensitive Complexes in Yeast: Nucleosomes and Non-histone Barriers SO MOLECULAR CELL LA English DT Article ID BASE-PAIR RESOLUTION; RNA-POLYMERASE-II; GENOME-WIDE; REGULATORY REGIONS; IN-VIVO; SACCHAROMYCES-CEREVISIAE; CHROMATIN ARCHITECTURE; MICROCOCCAL NUCLEASE; DYNAMIC NUCLEOSOMES; GENE-TRANSCRIPTION AB Micrococcal nuclease (MNase) is commonly used to map nucleosomes genome-wide, but nucleosome maps are affected by the degree of digestion. It has been proposed that many yeast promoters are not nucleosome-free but instead occupied by easily digested, unstable, "fragile'' nucleosomes. We analyzed the histone content of all MNase-sensitive complexes by MNase-ChIP-seq and sonication-ChIP-seq. We find that yeast promoters are predominantly bound by non-histone protein complexes, with little evidence for fragile nucleosomes. We do detect MNase-sensitive nucleosomes elsewhere in the genome, including at transcription termination sites. However, they have high A/T content, suggesting that MNase sensitivity does not indicate instability, but rather the preference of MNase for A/T-rich DNA, such that A/T-rich nucleosomes are digested faster than G/C-rich nucleosomes. We confirm our observations by analyzing ChIP-exo, chemical mapping, and ATAC-seq data from other laboratories. Thus, histone ChIP-seq experiments are essential to distinguish nucleosomes from other DNA-binding proteins that protect against MNase. C1 [Chereji, Razvan V.; Ocampo, Josefina; Clark, David J.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Dev Biol, NIH, Bethesda, MD 20892 USA. RP Clark, DJ (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Div Dev Biol, NIH, Bethesda, MD 20892 USA. EM clarkda@mail.nih.gov FU National Institutes of Health (NICHD) FX We thank Alan Hinnebusch, Gary Felsenfeld, Natalia Petrenko, and Peter Eriksson for discussion and helpful comments on the manuscript. We thank Ho-Sung Rhee and Bongsoo Park for helpful discussions regarding the ChIP-exo experiments. We thank the NHLBI Core Facility (Yan Luo, Poching Liu, and Jun Zhu) for paired-end sequencing. This study utilized the computational resources of the NIH HPC Biowulf cluster (https://hpc.nih.gov). This work was supported by the Intramural Research Program of the National Institutes of Health (NICHD). NR 66 TC 2 Z9 2 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1097-2765 EI 1097-4164 J9 MOL CELL JI Mol. Cell PD FEB 2 PY 2017 VL 65 IS 3 BP 565 EP + DI 10.1016/j.molcel.2016.12.009 PG 16 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EO1BA UT WOS:000396431400019 PM 28157509 ER PT J AU Leachman, SA Merlino, G AF Leachman, Sancy A. Merlino, Glenn TI MEDICINE The final frontier in cancer diagnosis SO NATURE LA English DT Editorial Material ID RELIABILITY C1 [Leachman, Sancy A.] Oregon Hlth & Sci Univ, Knight Canc Inst, Melanoma Res Program, Dept Dermatol, Portland, OR 97239 USA. [Merlino, Glenn] NCI, Lab Canc Biol & Genet, Ctr Canc Res, Bethesda, MD 20892 USA. RP Leachman, SA (reprint author), Oregon Hlth & Sci Univ, Knight Canc Inst, Melanoma Res Program, Dept Dermatol, Portland, OR 97239 USA. EM leachmas@ohsu.edu; gmerlino@helix.nih.gov NR 6 TC 0 Z9 0 U1 4 U2 4 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0028-0836 EI 1476-4687 J9 NATURE JI Nature PD FEB 2 PY 2017 VL 542 IS 7639 BP 36 EP 38 PG 4 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN6MY UT WOS:000396119300024 PM 28150762 ER PT J AU Marom, A Barak, AF Kramer, MP Lewinsky, H Binsky-Ehrenreich, I Cohen, S Tsitsou-Kampeli, A Kalchenko, V Kuznetsov, Y Mirkin, V Dezorella, N Shapiro, M Schwartzberg, PL Cohen, Y Shvidel, L Haran, M Becker-Herman, S Herishanu, Y Shachar, I AF Marom, A. Barak, A. F. Kramer, M. P. Lewinsky, H. Binsky-Ehrenreich, I. Cohen, S. Tsitsou-Kampeli, A. Kalchenko, V. Kuznetsov, Y. Mirkin, V. Dezorella, N. Shapiro, M. Schwartzberg, P. L. Cohen, Y. Shvidel, L. Haran, M. Becker-Herman, S. Herishanu, Y. Shachar, I. TI CD84 mediates CLL-microenvironment interactions SO ONCOGENE LA English DT Article ID CHRONIC LYMPHOCYTIC-LEUKEMIA; B-CELLS; BONE-MARROW; CD74-DEPENDENT MANNER; EXPRESSION; APOPTOSIS; SURVIVAL; CHEMOKINES; MIGRATION; RECEPTOR AB Chronic lymphocytic leukemia (CLL) is a malignant disease of small mature lymphocytes. Signals from the CLL microenvironment promote progression of the disease and induce drug resistance. This phenomenon is largely dependent on direct contact between the malignant B cells and stromal cells. CD84 belongs to the signaling lymphocyte activation molecule family of immunoreceptors, which self-associates, forming an orthogonal homophilic dimer. We therefore hypothesized that CD84 may bridge between CLL cells and their microenvironment, promoting cell survival. Our in vitro results show that CD84 expressed on CLL cells interact with CD84 expressed on cells in their microenvironment, inducing cell survival in both sides. Blocking CD84 in vitro and in vivo disrupt the interaction of CLL cells with their microenvironment, resulting in induced cell death. Thus, our findings suggest novel therapeutic strategies based on the blockade of this CD84- dependent survival pathway. C1 [Marom, A.; Barak, A. F.; Kramer, M. P.; Lewinsky, H.; Binsky-Ehrenreich, I.; Cohen, S.; Tsitsou-Kampeli, A.; Becker-Herman, S.; Shachar, I.] Weizmann Inst Sci, Dept Immunol, 234 Herzel St, IL-76100 Rehovot, Israel. [Kalchenko, V.; Kuznetsov, Y.] Weizmann Inst Sci, Dept Vet Resources, Rehovot, Israel. [Mirkin, V.; Shvidel, L.; Haran, M.] Kaplan Med Ctr, Hematol Inst, Rehovot, Israel. [Dezorella, N.; Shapiro, M.; Herishanu, Y.] Tel Aviv Sourasky Med Ctr, Dept Hematol, Tel Aviv, Israel. [Schwartzberg, P. L.] NHGRI, NIH, Bethesda, MA USA. [Cohen, Y.] Laniado Med Ctr, Sanz Med Ctr, Dept Hematol, Netanya, Israel. RP Shachar, I (reprint author), Weizmann Inst Sci, Dept Immunol, 234 Herzel St, IL-76100 Rehovot, Israel. EM idit.shachar@weizmann.ac.il OI Kramer, Matthias P/0000-0002-0289-5261 FU Israel Science Foundation; Israel Cancer association; Israel Cancer Research Fund (ICRF); DKFZ-MOST cooperation in cancer research; Quinquin foundation; Rubenstein charitable foundation FX We thank members of the Shachar laboratory for fruitful discussion and support. IS is the incumbent of the Dr Morton and Ann Kleiman Professorial Chair. This research was supported by the Israel Science Foundation, Israel Cancer association, Israel Cancer Research Fund (ICRF), DKFZ-MOST cooperation in cancer research, Quinquin foundation and Rubenstein charitable foundation. NR 41 TC 1 Z9 1 U1 1 U2 1 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0950-9232 EI 1476-5594 J9 ONCOGENE JI Oncogene PD FEB 2 PY 2017 VL 36 IS 5 BP 628 EP 638 DI 10.1038/onc.2016.238 PG 11 WC Biochemistry & Molecular Biology; Oncology; Cell Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Oncology; Cell Biology; Genetics & Heredity GA EK8IS UT WOS:000394167700005 PM 27452524 ER PT J AU Arem, H Pfeiffer, RM Moore, SC Irwin, ML LaMonte, MJ Sarto, GE Nassir, R Luo, JH Chlebowski, RT Brinton, LA Matthews, CE AF Arem, Hannah Pfeiffer, Ruth M. Moore, Steven C. Irwin, Melinda L. LaMonte, Michael J. Sarto, Gloria E. Nassir, Rami Luo, Juhua Chlebowski, Rowan T. Brinton, Louise A. Matthews, Charles E. TI Post-diagnosis body mass index and mortality among women diagnosed with endometrial cancer: Results from the Women's Health Initiative SO PLOS ONE LA English DT Article ID PHYSICAL-ACTIVITY; OVERWEIGHT; CARCINOMA; SURVIVORS; OBESITY; COHORT AB Higher body mass index (BMI) measured before endometrial cancer diagnosis has been associated with greater risk of developing endometrial cancer and higher mortality, but the association between BMI measured after diagnosis and mortality risk is unclear. We identified 467 women (91 deaths) in the Women's Health Initiative (WHI) with information on BMI measured after diagnosis and used Cox proportional hazards regression to generate hazard ratios (HR) and 95% confidence intervals (CI) for all-cause mortality. Comparing BMI 35+ with <25 kg/m(2), we observed no association with all-cause mortality (HR = 1.02, 95% CI 0.55-1.91). Our study does not support the hypothesis that higher BMI after endometrial cancer diagnosis is associated with poorer survival. C1 [Arem, Hannah] George Washington Univ, Sch Publ Hlth, Milken Inst, Washington, DC 20052 USA. [Pfeiffer, Ruth M.; Moore, Steven C.; Brinton, Louise A.; Matthews, Charles E.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. [Irwin, Melinda L.] Yale Sch Publ Hlth, New Haven, CT USA. [Irwin, Melinda L.] Yale Canc Ctr, New Haven, CT USA. [LaMonte, Michael J.] SUNY Buffalo, Sch Publ Hlth & Hlth Profess, Dept Epidemiol & Environm Hlth, Buffalo, NY USA. [Sarto, Gloria E.] UW Madison Dept Obstet & Gynecol, Madison, WI USA. [Nassir, Rami] Univ Calif Davis, Dept Biochem & Mol Med, Davis, CA 95616 USA. [Luo, Juhua] Indiana Univ, Dept Epidemiol & Biostat, Sch Publ Hlth Bloomington, Bloomington, IN 47405 USA. [Chlebowski, Rowan T.] Harbor UCLA Med Ctr, Los Angeles Biomed Res Inst, Torrance, CA 90509 USA. RP Arem, H (reprint author), George Washington Univ, Sch Publ Hlth, Milken Inst, Washington, DC 20052 USA. EM hannaharem@gwu.edu OI Irwin, Michael/0000-0001-5801-274X FU Intramural Research Division of the National Cancer Institute; National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C] FX Funding was provided by the Intramural Research Division of the National Cancer Institute; The WHI program is funded by the National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services (through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C). NR 15 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 2 PY 2017 VL 12 IS 2 AR e0171250 DI 10.1371/journal.pone.0171250 PG 7 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN7DB UT WOS:000396161200115 ER PT J AU Liu, LF Craig, CM Tolentino, LL Choi, O Morton, J Rivas, H Cushman, SW Engleman, EG McLaughlin, T AF Liu, Li Fen Craig, Colleen M. Tolentino, Lorna L. Choi, Okmi Morton, John Rivas, Homero Cushman, Samuel W. Engleman, Edgar G. McLaughlin, Tracey TI Adipose tissue macrophages impair preadipocyte differentiation in humans SO PLOS ONE LA English DT Article ID NECROSIS-FACTOR-ALPHA; INSULIN-RESISTANCE; HUMAN ADIPOCYTES; OBESITY; CELLS; METABOLISM; EXPRESSION; RECEPTOR; DEPOTS; RISK AB Aim The physiologic mechanisms underlying the relationship between obesity and insulin resistance are not fully understood. Impaired adipocyte differentiation and localized inflammation characterize adipose tissue from obese, insulin-resistant humans. The directionality of this relationship is not known, however. The aim of the current study was to investigate whether adipose tissue inflammation is causally-related to impaired adipocyte differentiation. Methods Abdominal subcutaneous(SAT) and visceral(VAT) adipose tissue was obtained from 20 human participants undergoing bariatric surgery. Preadipocytes were isolated, and cultured in the presence or absence of CD14+ macrophages obtained from the same adipose tissue sample. Adipocyte differentiation was quantified after 14 days via immunofluorescence, Oil-Red O, and adipogenic gene expression. Cytokine secretion by mature adipocytes cultured with or without CD14+ macrophages was quantified. Results Adipocyte differentiation was significantly lower in VAT than SAT by all measures (p<0.001). With macrophage removal, SAT preadipocyte differentiation increased significantly as measured by immunofluorescence and gene expression, whereas VAT preadipocyte differentiation was unchanged. Adipocyte-secreted proinflammatory cytokines were higher and adiponectin lower in media from VAT vs SAT: macrophage removal reduced inflammatory cytokine and increased adiponectin secretion from both SAT and VAT adipocytes. Differentiation of preadipocytes from SAT but not VAT correlated inversely with systemic insulin resistance. Conclusions The current results reveal that proinflammatory immune cells in human SAT are causally-related to impaired preadipocyte differentiation, which in turn is associated with systemic insulin resistance. In VAT, preadipocyte differentiation is poor even in the absence of tissue macrophages, pointing to inherent differences in fat storage potential between the two depots. C1 [Liu, Li Fen; Craig, Colleen M.; McLaughlin, Tracey] Stanford Univ, Div Endocrinol, Dept Med, Palo Alto, CA 94304 USA. [Tolentino, Lorna L.; Choi, Okmi; Engleman, Edgar G.] Stanford Blood Ctr, Palo Alto, CA USA. [Morton, John; Rivas, Homero] Stanford Univ, Sch Med, Dept Surg, Palo Alto, CA 94304 USA. [Cushman, Samuel W.] NIDDK, NIH, Bethesda, MD 20892 USA. [Engleman, Edgar G.] Stanford Univ, Sch Med, Dept Pathol, Palo Alto, CA 94304 USA. RP Liu, LF (reprint author), Stanford Univ, Div Endocrinol, Dept Med, Palo Alto, CA 94304 USA. EM lifenliu@stanford.edu FU National Institutes of Health/National Institute of Digestive Diseases and Diabetes [R01 DK080436, R01DK071309, DK096038] FX Grant support for this study was provided by National Institutes of Health/National Institute of Digestive Diseases and Diabetes, R01 DK080436, R01DK071309 and DK096038. The funder had no role in study design, data collection and analysis, decision to publish, or preparation of the manuscript. NR 33 TC 0 Z9 0 U1 0 U2 0 PU PUBLIC LIBRARY SCIENCE PI SAN FRANCISCO PA 1160 BATTERY STREET, STE 100, SAN FRANCISCO, CA 94111 USA SN 1932-6203 J9 PLOS ONE JI PLoS One PD FEB 2 PY 2017 VL 12 IS 2 AR e0170728 DI 10.1371/journal.pone.0170728 PG 14 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN7DB UT WOS:000396161200038 ER PT J AU Ramoni, RB Mulvihill, JJ Adams, DR Allard, P Ashley, EA Bernstein, JA Gahl, WA Hamid, R Loscalzo, J McCray, AT Shashi, V Tifft, CJ Wise, AL AF Ramoni, Rachel B. Mulvihill, John J. Adams, David R. Allard, Patrick Ashley, Euan A. Bernstein, Jonathan A. Gahl, William A. Hamid, Rizwan Loscalzo, Joseph McCray, Alexa T. Shashi, Vandana Tifft, Cynthia J. Wise, Anastasia L. CA Undiag Dis Network TI The Undiagnosed Diseases Network: Accelerating Discovery about Health and Disease SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID INSTITUTES-OF-HEALTH; RARE DISEASES; GENE-DISCOVERY; GLYCOSYLATION; MUTATIONS; MEDICINE; PROGRAM; PROJECT; CARE AB Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an element of the concept of precision in medicine, requires new infrastructure that spans geography, institutional boundaries, and the divide between clinical care and research. The National Institutes of Health (NIH) Common Fund supports the Undiagnosed Diseases Network (UDN) as an exemplar of this model of precise diagnosis. Its goals are to forge a strategy to accelerate the diagnosis of rare or previously unrecognized diseases, to improve recommendations for clinical management, and to advance research, especially into disease mechanisms. The network will achieve these objectives by evaluating patients with undiagnosed diseases, fostering a breadth of expert collaborations, determining best practices for translating the strategy into medical centers nationwide, and sharing findings, data, specimens, and approaches with the scientific and medical communities. Building the UDN has already brought insights to human and medical geneticists. The initial focus has been on data sharing, establishing common protocols for institutional review boards and data sharing, creating protocols for referring and evaluating patients, and providing DNA sequencing, metabolomic analysis, and functional studies in model organisms. By extending this precision diagnostic model nationally, we strive to meld clinical and research objectives, improve patient outcomes, and contribute to medical science. C1 [Ramoni, Rachel B.; McCray, Alexa T.] Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA. [Ramoni, Rachel B.] NYU, Coll Dent, Dept Epidemiol & Hlth Promot, New York, NY 10010 USA. [Mulvihill, John J.; Adams, David R.; Gahl, William A.; Tifft, Cynthia J.; Wise, Anastasia L.] NIH, Natl Human Genome Res Inst, Bldg 10, Bethesda, MD 20892 USA. [Allard, Patrick] Univ Calif Los Angeles, Inst Soc & Genet, Los Angeles, CA 90095 USA. [Allard, Patrick] Univ Calif Los Angeles, Dept Environm Hlth Sci, Fielding Sch Publ Hlth, Los Angeles, CA 90095 USA. [Ashley, Euan A.] Stanford Univ, Dept Med, Sch Med, Stanford, CA 94305 USA. [Ashley, Euan A.] Stanford Univ, Dept Genet, Sch Med, Stanford, CA 94305 USA. [Bernstein, Jonathan A.] Stanford Univ, Dept Pediat, Sch Med, Stanford, CA 94305 USA. [Hamid, Rizwan] Vanderbilt Univ, Med Ctr, Dept Pediat, Nashville, TN 37232 USA. [Loscalzo, Joseph] Brigham & Womens Hosp, Dept Med, 75 Francis St, Boston, MA 02115 USA. [Loscalzo, Joseph] Harvard Med Sch, Boston, MA 02115 USA. [Shashi, Vandana] Duke Univ, Sch Med, Dept Pediat, Durham, NC 27707 USA. RP Ramoni, RB (reprint author), Harvard Med Sch, Dept Biomed Informat, Boston, MA 02115 USA. EM rachelramoni@nyu.edu FU Intramural Research Program of the National Human Genome Research Institute; NIH Common Fund through the Office of Strategic Coordination and Office of the NIH Director; NIH [U01HG007530, U01HG007674, U01HG007703, U01HG007672, U01HG007708, U01HG007709, U01HG007690, U01HG007942, U01HG007943, U54N5093793, U01TR001395] FX Rachel Eastwood of the Undiagnosed Diseases Network Coordinating Center prepared Figure 1. We are grateful for the participation of patients and family members and their referring clinicians. This work was supported in part by the Intramural Research Program of the National Human Genome Research Institute and the NIH Common Fund through the Office of Strategic Coordination and Office of the NIH Director. Research reported in this manuscript was supported by the NIH Common Fund through the Office of Strategic Coordination and Office of the NIH Director under award numbers U01HG007530, U01HG007674, U01HG007703, U01HG007672, U01HG007708, U01HG007709, U01HG007690, U01HG007942, U01HG007943, U54N5093793, and U01TR001395. The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH. NR 37 TC 0 Z9 0 U1 6 U2 6 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD FEB 2 PY 2017 VL 100 IS 2 BP 185 EP 192 DI 10.1016/j.athg.2017.01.006 PG 8 WC Genetics & Heredity SC Genetics & Heredity GA EJ6TP UT WOS:000393352000001 PM 28157539 ER PT J AU Anikster, Y Haack, TB Vilboux, T Pode-Shakked, B Thony, B Shen, N Guarani, V Meissner, T Mayatepek, E Trefz, FK Marek-Yagel, D Martinez, A Huttlin, EL Paulo, JA Berutti, R Benoist, JF Imbard, A Dorboz, I Heimer, G Landau, Y Ziv-Strasser, L Malicdan, MCV Gemperle-Britschgi, C Cremer, K Engels, H Meili, D Keller, I Bruggmann, R Strom, TM Meitinger, T Mullikin, JC Schwartz, G Ben-Zeev, B Gahl, WA Harper, JW Blau, N Hoffmann, GF Prokisch, H Opladen, T Schiff, M AF Anikster, Yair Haack, Tobias B. Vilboux, Thierry Pode-Shakked, Ben Thony, Beat Shen, Nan Guarani, Virginia Meissner, Thomas Mayatepek, Ertan Trefz, Friedrich K. Marek-Yagel, Dina Martinez, Aurora Huttlin, Edward L. Paulo, Joao A. Berutti, Riccardo Benoist, Jean-Francois Imbard, Apolline Dorboz, Imen Heimer, Gali Landau, Yuval Ziv-Strasser, Limor Malicdan, May Christine V. Gemperle-Britschgi, Corinne Cremer, Kirsten Engels, Hartmut Meili, David Keller, Irene Bruggmann, Remy Strom, Tim M. Meitinger, Thomas Mullikin, James C. Schwartz, Gerard Ben-Zeev, Bruria Gahl, William A. Harper, J. Wade Blau, Nenad Hoffmann, Georg F. Prokisch, Holger Opladen, Thomas Schiff, Manuel TI Biallelic Mutations in DNAJC12 Cause Hyperphenylalaninemia, Dystonia, and Intellectual Disability SO AMERICAN JOURNAL OF HUMAN GENETICS LA English DT Article ID CHAPERONE DNAJB6; PHENYLKETONURIA; GENETICS; DEFICIENCY; VARIANTS AB Phenylketonuria (PKU, phenylalanine hydroxylase deficiency), an inborn error of metabolism, can be detected through newborn screening for hyperphenylalaninemia (HPA). Most individuals with HPA harbor mutations in the gene encoding phenylalanine hydroxylase (PAH), and a small proportion (2%) exhibit tetrahydrobiopterin (BH4) deficiency with additional neurotransmitter (dopamine and serotonin) deficiency. Here we report six individuals from four unrelated families with HPA who exhibited progressive neurodevelopmental delay, dystonia, and a unique profile of neurotransmitter deficiencies without mutations in PAH or BH4 metabolism disorder-related genes. In these six affected individuals, whole-exome sequencing (WE'S) identified biallelic mutations in DNAIC12, which encodes a heat shock co-chaperone family member that interacts with phenylalanine, tyrosine, and tryptophan hydroxylases catalyzing the BH4-activated conversion of phenylalanine into tyrosine, tyrosine into L-dopa (the precursor of dopamine), and tryptophan into 5-hydroxytryptophan (the precursor of serotonin), respectively. DNAJC12 was un-detectable in fibroblasts from the individuals with null mutations. PAH enzyme activity was reduced in the presence of DNAIC12 mutations. Early treatment with BH4 and/or neurotransmitter precursors had dramatic beneficial effects and resulted in the prevention of neurodevelopmental delay in the one individual treated before symptom onset. Thus, DNAJC12 deficiency is a preventable and treatable cause of intellectual disability that should be considered in the early differential diagnosis when screening results are positive for HPA. Sequencing of DNAIC12 may resolve any uncertainty and should be considered in all children with unresolved HPA. C1 [Anikster, Yair; Pode-Shakked, Ben; Marek-Yagel, Dina; Landau, Yuval; Schwartz, Gerard] Edmond & Lily Safra Childrens Hosp, Metab Dis Unit, Sheba Med Ctr, IL-52621 Tel Hashomer, Israel. [Anikster, Yair; Pode-Shakked, Ben; Marek-Yagel, Dina; Heimer, Gali; Landau, Yuval; Schwartz, Gerard; Ben-Zeev, Bruria] Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel. [Anikster, Yair; Marek-Yagel, Dina] Sheba Med Ctr, Wohl Inst Translat Med, IL-52621 Tel Hashomer, Israel. [Haack, Tobias B.; Berutti, Riccardo; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger] Tech Univ Munich, Inst Human Genet, Trogerstr 32, D-81675 Munich, Germany. [Haack, Tobias B.; Berutti, Riccardo; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger] Helmholtz Zentrum Munchen, Inst Human Genet, D-85764 Neuherberg, Germany. [Vilboux, Thierry; Malicdan, May Christine V.] NHGRI, Med Genet Branch, NIH, Bethesda, MD 20892 USA. [Vilboux, Thierry; Malicdan, May Christine V.] Inova Translat Med Inst, Div Med Genom, Falls Church, VA 22042 USA. [Pode-Shakked, Ben; Heimer, Gali] Sheba Med Ctr, Dr Pinchas Borenstein Talpiot Med Leadership Prog, IL-52621 Tel Hashomer, Israel. [Thony, Beat; Gemperle-Britschgi, Corinne; Meili, David] Univ Zurich, Div Metab Clin Chem & Biochem, Div Metab, Dept Pediat, CH-8032 Zurich, Switzerland. [Shen, Nan; Trefz, Friedrich K.; Blau, Nenad; Hoffmann, Georg F.; Opladen, Thomas] Univ Childrens Hosp, Div Neuropediat & Metab Med, D-69120 Heidelberg, Germany. [Guarani, Virginia; Huttlin, Edward L.; Paulo, Joao A.; Harper, J. Wade] Harvard Med Sch, Dept Cell Biol, Boston, MA 02115 USA. [Meissner, Thomas; Mayatepek, Ertan] Univ Childrens Hosp, Dept Gen Pediat Neonatol & Pediat Cardiol, D-40225 Dusseldorf, Germany. [Martinez, Aurora] Univ Bergen, Dept Biomed, N-5009 Bergen, Norway. [Martinez, Aurora] Univ Bergen, KG Jebsen Ctr Neuropsychiat Disorders, N-5009 Bergen, Norway. [Benoist, Jean-Francois; Imbard, Apolline] Robert Debre Univ Hosp, APHP, Dept Biochem, F-75019 Paris, France. [Dorboz, Imen; Schiff, Manuel] Univ Paris Diderot, Sorbonne Paris Cite, UMR1141, PROTECT,INSERM, F-75019 Paris, France. [Heimer, Gali; Ben-Zeev, Bruria] Edmond & Lily Safra Childrens Hosp, Sheba Med Ctr, Pediat Neurol Unit, IL-52621 Tel Hashomer, Israel. [Ziv-Strasser, Limor] Sheba Med Ctr, Sheba Canc Res Ctr, IL-52621 Tel Hashomer, Israel. [Malicdan, May Christine V.; Gahl, William A.] NIH, Undiagnosed Dis Program, Common Fund, Off Director, Bldg 10, Bethesda, MD 20892 USA. [Cremer, Kirsten; Engels, Hartmut] Univ Bonn, Inst Human Genet, D-53127 Bonn, Germany. [Keller, Irene; Bruggmann, Remy] Univ Bern, Interfac Bioinformat Unit, CH-3012 Bern, Switzerland. [Keller, Irene; Bruggmann, Remy] Univ Bern, Swiss Inst Bioinformat, CH-3012 Bern, Switzerland. [Keller, Irene] Univ Bern, Dept Clin Res, CH-3012 Bern, Switzerland. [Mullikin, James C.] NHGRI, NISC, NIH, Bethesda, MD 20892 USA. [Schiff, Manuel] Robert Debre Univ Hosp, APHP, Reference Ctr Inborn Errors Metab, F-75019 Paris, France. RP Anikster, Y (reprint author), Edmond & Lily Safra Childrens Hosp, Metab Dis Unit, Sheba Med Ctr, IL-52621 Tel Hashomer, Israel.; Anikster, Y (reprint author), Tel Aviv Univ, Sackler Fac Med, IL-6997801 Tel Aviv, Israel.; Anikster, Y (reprint author), Sheba Med Ctr, Wohl Inst Translat Med, IL-52621 Tel Hashomer, Israel.; Schiff, M (reprint author), Univ Paris Diderot, Sorbonne Paris Cite, UMR1141, PROTECT,INSERM, F-75019 Paris, France.; Schiff, M (reprint author), Robert Debre Univ Hosp, APHP, Reference Ctr Inborn Errors Metab, F-75019 Paris, France. EM yair.anikster@sheba.health.gov.il; manuel.schiff@aphp.fr FU NIH National Human Genome Research Intramural Research Program; NIH [U41 HG006673]; Dietmar Hopp Foundation; St. Leon-Rot, the German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for Mitochondrial Disorders [01GM1113C]; Juniorverbund in der Systemmedizin "mitOmics" [FKZ 01ZX1405C]; E-Rare project GENOMIT [01GM1207]; EU Horizon Collaborative Research Project SOUND [633974]; Illig-Stiftung for HPA individuals; EU [305444, FP7-HEALTH-2012-INNOVATION-1] FX The authors wish to thank the participants in this study and their families for their cooperation and support. We would also like to acknowledge the professional manuscript services of American Journal Experts (AJE). This study was supported in part by the NIH National Human Genome Research Intramural Research Program; the NIH (U41 HG006673); the Dietmar Hopp Foundation; St. Leon-Rot, the German Bundesministerium fur Bildung und Forschung (BMBF) through the German Network for Mitochondrial Disorders (mitoNET, 01GM1113C) and the Juniorverbund in der Systemmedizin "mitOmics" (FKZ 01ZX1405C); the E-Rare project GENOMIT (01GM1207); the EU Horizon 2020 Collaborative Research Project SOUND (633974); and the Illig-Stiftung for HPA individuals and the FP7-HEALTH-2012-INNOVATION-1 EU Grant No. 305444 (RD-CONNECT). NR 25 TC 0 Z9 0 U1 4 U2 4 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 0002-9297 EI 1537-6605 J9 AM J HUM GENET JI Am. J. Hum. Genet. PD FEB 2 PY 2017 VL 100 IS 2 BP 257 EP 266 DI 10.1016/j.ajhg.2017.01.002 PG 10 WC Genetics & Heredity SC Genetics & Heredity GA EJ6TP UT WOS:000393352000007 PM 28132689 ER PT J AU Press, MJ Howe, R Schoenbaum, M Cavanaugh, S Marshall, A Baldwin, L Conway, PH AF Press, Matthew J. Howe, Ryan Schoenbaum, Michael Cavanaugh, Sean Marshall, Ann Baldwin, Lindsey Conway, Patrick H. TI Medicare Payment for Behavioral Health Integration SO NEW ENGLAND JOURNAL OF MEDICINE LA English DT Editorial Material ID CARE C1 [Press, Matthew J.; Howe, Ryan; Cavanaugh, Sean; Marshall, Ann; Baldwin, Lindsey; Conway, Patrick H.] Ctr Medicare & Medicaid Serv, Baltimore, MD 21244 USA. [Schoenbaum, Michael] NIMH, Bethesda, MD 20892 USA. RP Press, MJ (reprint author), Ctr Medicare & Medicaid Serv, Baltimore, MD 21244 USA. NR 5 TC 0 Z9 0 U1 1 U2 1 PU MASSACHUSETTS MEDICAL SOC PI WALTHAM PA WALTHAM WOODS CENTER, 860 WINTER ST,, WALTHAM, MA 02451-1413 USA SN 0028-4793 EI 1533-4406 J9 NEW ENGL J MED JI N. Engl. J. Med. PD FEB 2 PY 2017 VL 376 IS 5 BP 405 EP 407 DI 10.1056/NEJMp1614134 PG 3 WC Medicine, General & Internal SC General & Internal Medicine GA EJ8WH UT WOS:000393507200001 PM 27973984 ER PT J AU Pryce, BR Al-Zahrani, KN Dufresne, S Belkina, N Labreche, C Patino-Lopez, G Frenette, J Shaw, S Sabourin, LA AF Pryce, Benjamin R. Al-Zahrani, Khalid N. Dufresne, Sebastien Belkina, Natalya Labreche, Cedrik Patino-Lopez, Genaro Frenette, Jerome Shaw, Stephen Sabourin, Luc A. TI Deletion of the Ste20-like kinase SLK in skeletal muscle results in a progressive myopathy and muscle weakness SO SKELETAL MUSCLE LA English DT Article DE Ste20-like kinase; Myofiber stability; Muscle regeneration ID INTEGRIN-LINKED KINASE; FOCAL ADHESION KINASE; MUSCULAR-DYSTROPHY; PROTEIN-KINASE; STE20-RELATED KINASE; ALPHA-7-BETA-1 INTEGRIN; MYOTENDINOUS JUNCTIONS; DEPENDENT ACTIVATION; MYOBLAST FUSION; MICE AB Background: The Ste20-like kinase, SLK, plays an important role in cell proliferation and cytoskeletal remodeling. In fibroblasts, SLK has been shown to respond to FAK/Src signaling and regulate focal adhesion turnover through Paxillin phosphorylation. Full-length SLK has also been shown to be essential for embryonic development. In myoblasts, the overexpression of a dominant negative SLK is sufficient to block myoblast fusion. Methods: In this study, we crossed the Myf5-Cre mouse model with our conditional SLK knockout model to delete SLK in skeletal muscle. A thorough analysis of skeletal muscle tissue was undertaken in order to identify defects in muscle development caused by the lack of SLK. Isometric force analysis was performed on adult knockout mice and compared to age-matched wild-type mice. Furthermore, cardiotoxin injections were performed followed by immunohistochemistry for myogenic markers to assess the efficiency muscle regeneration following SLK deletion. Results: We show here that early deletion of SLK from the myogenic lineage does not markedly impair skeletal muscle development but delays the regenerative process. Interestingly, adult mice (similar to 6 months) display an increase in the proportion of central nuclei and increased p38 activation. Furthermore, mice as young as 3 months old present with decreased force generation, suggesting that the loss of SLK impairs myofiber stability and function. Assessment of structural components revealed aberrant localization of focal adhesion proteins, such as FAK and paxillin. Our data show that the loss of SLK results in unstable myofibers resulting in a progressive myopathy. Additionally, the loss of SLK resulted in a delay in muscle regeneration following cardiotoxin injections. Conclusions: Our results show that SLK is dispensable for muscle development and regeneration but is required for myofiber stability and optimal force generation. C1 [Pryce, Benjamin R.; Al-Zahrani, Khalid N.; Labreche, Cedrik; Sabourin, Luc A.] Univ Ottawa, Dept Cellular & Mol Med, Fac Med, Ottawa, ON, Canada. [Pryce, Benjamin R.; Al-Zahrani, Khalid N.; Labreche, Cedrik; Sabourin, Luc A.] Ottawa Hosp, Canc Therapeut Program, Res Inst, 501 Smyth Rd,BOX 926, Ottawa, ON, Canada. [Dufresne, Sebastien; Frenette, Jerome] Univ Laval, Ctr Hosp Univ Quebec, Ctr Rech, CHU Laval, Quebec City, PQ, Canada. [Frenette, Jerome] Univ Laval, Fac Med, Dept Readaptat, Quebec City, PQ, Canada. [Belkina, Natalya; Shaw, Stephen] NCI, NIH, Bethesda, MD 20892 USA. [Patino-Lopez, Genaro] Hosp Infantil Mexico Dr Federico Gomez, Lab Invest Inmunol & Prote, Mexico City, DF, Mexico. RP Sabourin, LA (reprint author), Univ Ottawa, Dept Cellular & Mol Med, Fac Med, Ottawa, ON, Canada.; Sabourin, LA (reprint author), Ottawa Hosp, Canc Therapeut Program, Res Inst, 501 Smyth Rd,BOX 926, Ottawa, ON, Canada. EM lsabourin@ohri.ca FU Canadian Breast Cancer Foundation; Canadian Institute of Health Research FX BP and KNA are recipients of the Canadian Breast Cancer Foundation PhD Fellowship. This work was supported by the Canadian Institute of Health Research and the Canadian Breast Cancer Foundation. NR 55 TC 0 Z9 0 U1 2 U2 2 PU BIOMED CENTRAL LTD PI LONDON PA 236 GRAYS INN RD, FLOOR 6, LONDON WC1X 8HL, ENGLAND SN 2044-5040 J9 SKELET MUSCLE JI Skeletal Muscle PD FEB 2 PY 2017 VL 7 AR 3 DI 10.1186/s13395-016-0119-1 PG 13 WC Cell Biology SC Cell Biology GA EK0NL UT WOS:000393623300001 PM 28153048 ER PT J AU Faris, R Moore, RA Ward, A Race, B Dorward, DW Hollister, JR Fischer, ER Priola, SA AF Faris, Robert Moore, Roger A. Ward, Anne Race, Brent Dorward, David W. Hollister, Jason R. Fischer, Elizabeth R. Priola, Suzette A. TI Cellular prion protein is present in mitochondria of healthy mice SO Scientific Reports LA English DT Article ID ANTI-BAX FUNCTION; RAFT-LIKE MICRODOMAINS; CYTOCHROME-C; ENDOPLASMIC-RETICULUM; TRANSMEMBRANE FORM; OXIDATIVE STRESS; NATURAL SCRAPIE; COPPER-BINDING; HUMAN NEURONS; NORMAL BRAIN AB Cellular prion protein (PrPC) is a mammalian glycoprotein which is usually found anchored to the plasma membrane via a glycophosphatidylinositol (GPI) anchor. PrPC misfolds to a pathogenic isoform PrPSc, the causative agent of neurodegenerative prion diseases. The precise function of PrPC remains elusive but may depend upon its cellular localization. Here we show that PrPC is present in brain mitochondria from 6-12 week old wild-type and transgenic mice in the absence of disease. Mitochondrial PrPC was fully processed with mature N-linked glycans and did not require the GPI anchor for localization. Protease treatment of purified mitochondria suggested that mitochondrial PrPC exists as a transmembrane isoform with the C-terminus facing the mitochondrial matrix and the N-terminus facing the intermembrane space. Taken together, our data suggest that PrPC can be found in mitochondria in the absence of disease, old age, mutation, or overexpression and that PrPC may affect mitochondrial function. C1 [Faris, Robert; Moore, Roger A.; Ward, Anne; Race, Brent; Hollister, Jason R.; Priola, Suzette A.] NIAID, Lab Persistent Viral Dis, Rocky Mt Labs, NIH, Hamilton, MT 59840 USA. [Dorward, David W.; Fischer, Elizabeth R.] NIAID, Res Technol Branch, Rocky Mt Labs, NIH, Hamilton, MT 59840 USA. RP Priola, SA (reprint author), NIAID, Lab Persistent Viral Dis, Rocky Mt Labs, NIH, Hamilton, MT 59840 USA. EM spriola@nih.gov FU intramural research program of the National Institute of Allergy & Infectious Disease, National Institutes of Health [1-Z01-AI000752-15] FX The authors would like to thank Drs. Karin Peterson and Clayton Winkler for critically evaluating the manuscript and Dr. Tregei Starr for help with the confocal imaging. The authors also thank Carl Hammer of the Research Technologies Branch of the National Institutes of Health's National Institute of Allergy and Infectious Disease (Bethesda, MD) for the Orbitrap MS analysis of purified mitochondria and Anita Mora and Austin Athman for providing technical assistance in preparation of the figures. This research was supported by the intramural research program of the National Institute of Allergy & Infectious Disease, National Institutes of Health (Project #1-Z01-AI000752-15). NR 88 TC 0 Z9 0 U1 9 U2 9 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 2045-2322 J9 SCI REP-UK JI Sci Rep PD FEB 2 PY 2017 VL 7 AR 41556 DI 10.1038/srep41556 PG 16 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EJ3GK UT WOS:000393100400001 PM 28148964 ER PT J AU Natkunam, Y Goodlad, JR Chadburn, A de Jong, D Gratzinger, D Chan, JKC Said, J Jaffe, ES AF Natkunam, Yasodha Goodlad, John R. Chadburn, Amy de Jong, Daphne Gratzinger, Dita Chan, John K. C. Said, Jonathan Jaffe, Elaine S. TI EBV-Positive B-Cell Proliferations of Varied Malignant Potential 2015 SH/EAHP Workshop Report-Part 1 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Review DE Early lesion; Nondestructive lesion; Polymorphic lymphoproliferative disorder; Posttransplant lymphoproliferative disorder; Iatrogenic; Autoimmune; EBV; HIV ID EPSTEIN-BARR-VIRUS; PYOTHORAX-ASSOCIATED LYMPHOMA; POSTTRANSPLANT LYMPHOPROLIFERATIVE DISORDERS; OF-THE-LITERATURE; HEALTH-ORGANIZATION CLASSIFICATION; ORGAN TRANSPLANT RECIPIENTS; NECROSIS FACTOR THERAPY; MUCOCUTANEOUS ULCER; FOLLICULAR HYPERPLASIA; CHRONIC INFLAMMATION AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review B-cell proliferations of varied malignant potential associated with immunodeficiency. Methods: The Workshop Panel reviewed all cases of B-cell hyperplasias, polymorphic B-lymphoproliferative disorders, Epstein-Barr virus (EBV)-positive mucocutaneous ulcer, and large B-cell proliferations associated with chronic inflammation and rendered consensus diagnoses. Disease definitions, boundaries with more aggressive B-cell proliferations, and association with EBV were explored. Results: B-cell proliferations of varied malignant potential occurred in all immunodeficiency backgrounds. Presentation early in the course of immunodeficiency and in younger age groups and regression with reduction of immunosuppression were characteristic features. EBV positivity was essential for diagnosis in some hyperplasias where other specific defining features were absent. Conclusions: This spectrum of B-cell proliferations show similarities across immunodeficiency backgrounds. Localized forms of immunodeficiency disorders arise in immunocompetent patients most likely due to chronic immune stimulation and, despite aggressive histologic features, often show indolent clinical behavior. C1 [Natkunam, Yasodha; Gratzinger, Dita] Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. [Goodlad, John R.] St James Univ Hosp, HMDS, Leeds, W Yorkshire, England. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [de Jong, Daphne] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 75 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 129 EP 152 DI 10.1093/ajcp/aqw214 PG 24 WC Pathology SC Pathology GA EP0WY UT WOS:000397108600002 ER PT J AU de Jong, D Roemer, MGM Chan, JKC Goodlad, J Gratzinger, D Chadburn, A Jaffe, ES Said, J Natkunam, Y AF de Jong, Daphne Roemer, Margaretha G. M. Chan, John K. C. Goodlad, John Gratzinger, Dita Chadburn, Amy Jaffe, Elaine S. Said, Jonathan Natkunam, Yasodha TI B-Cell and Classical Hodgkin Lymphomas Associated With Immunodeficiency 2015 SH/EAHP Workshop Report-Part 2 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Review DE PD-L1; 9p24; Iatrogenic immunodeficiency; Posttransplant lymphoproliferative disorder; Autoimmunity; Primary immunodeficiency; Large B-cell lymphoma; Classical Hodgkin lymphoma; T-cell/histiocyte-rich B-cell lymphoma; Marginal zone lymphoma ID POSTTRANSPLANT LYMPHOPROLIFERATIVE DISORDERS; SOLID-ORGAN TRANSPLANTATION; HEALTH-ORGANIZATION CLASSIFICATION; MARGINAL ZONE LYMPHOMA; FRENCH REGISTRY; EXPRESSION; THERAPY; DISEASE; RISK; MANAGEMENT AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology submitted small and large B-cell lymphomas (BCLs), including classical Hodgkin lymphoma (CHL), in the context of immunodeficiency. Methods: Clinicopathologic and molecular features were studied to explore unifying concepts in malignant B-cell proliferations across immunodeficiency settings. Results: Cases submitted to the workshop spanned small BCLs presenting as nodal or extranodal marginal zone lymphoma and lymphoplasmacytic lymphoma, Epstein-Barr virus (EBV) positive in 75% of cases. Submitted large BCLs formed a spectrum from diffuse large B-cell lymphoma (DLBCL) to CHL across immunodeficiency settings. Additional studies demonstrated overexpression of PD-L1 and molecular 9p24 alterations in the large BCL spectrum and across different immunodeficiency settings. Conclusions: Small BCLs occur in all immunodeficiency settings, and EBV positivity is essential for their recognition as immunodeficiency related. Large BCLs include a spectrum from DLBCL to CHL across all immunodeficiency settings; immunohistochemical and molecular features are suggestive of shared pathogenetic mechanisms involving PD-L1 immune checkpoints. C1 [de Jong, Daphne; Roemer, Margaretha G. M.] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands. [Roemer, Margaretha G. M.] Dana Farber Canc Inst, Dept Med Oncol, Boston, MA 02115 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Goodlad, John] St James Univ Hosp, HMDS, Leeds, W Yorkshire, England. [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, L235,300 Pasteur Dr, Stanford, CA 94305 USA. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 63 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 153 EP 170 DI 10.1093/ajcp/aqw216 PG 18 WC Pathology SC Pathology GA EP0WY UT WOS:000397108600003 ER PT J AU Gratzinger, D de Jong, D Jaffe, ES Chadburn, A Chan, JKC Goodlad, JR Said, J Natkunam, Y AF Gratzinger, Dita de Jong, Daphne Jaffe, Elaine S. Chadburn, Amy Chan, John K. C. Goodlad, John R. Said, Jonathan Natkunam, Yasodha TI T- and NK-Cell Lymphomas and Systemic Lymphoproliferative Disorders and the Immunodeficiency Setting 2015 SH/EAHP Workshop Report-Part 4 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Review DE Iatrogenic immunodeficiency; Posttransplant lymphoproliferative disorder; T-cell lymphoma; NK-cell lymphoma; Systemic T-or NK-cell lymphoma of childhood ID BARR-VIRUS INFECTION; HYDROA VACCINIFORME; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; ANGIOIMMUNOBLASTIC LYMPHADENOPATHY; NONIMMUNOCOMPROMISED HOSTS; FOLLOW-UP; DELTA; VARIANTS; DISEASE; MIMICS AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review immunodeficiencyrelated T-and natural killer ( NK)-cell lymphoproliferations. Methods: The Workshop Panel reviewed 88 T-or NK-cell lymphoproliferations and rendered consensus diagnoses. Results: Hyperplasias of T-cell subsets may be clonal; retained architecture and the clinical setting support a benign diagnosis. Specific associations include hepatosplenic T-cell lymphoma with iatrogenic immunosuppression and breast implants with an indolent variant of anaplastic large cell lymphoma. Epstein-Barr virus ( EBV)-positive T-cell lymphomas rarely occur in the acquired immunodeficiency setting. Systemic T-and NK-cell lymphoma of childhood overlaps with chronic active EBV and reversible hemophagocytic lymphohistiocytosis-related T-cell lymphoproliferations. Conclusions: Immunodeficiencies predispose to T-cell hyperplasias, which must not be overdiagnosed as lymphoma. Many T-cell lymphomas in the immunodeficiency setting are likely coincidental, with specific exceptions. Systemic T-or NK-cell lymphomas are part of a spectrum of EBV+T or NK lymphoproliferations and can present in the acquired immunodeficiency setting. C1 [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, Stanford, CA 94305 USA. [de Jong, Daphne] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Goodlad, John R.] Univ Leeds, Leeds, W Yorkshire, England. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, Dept Pathol, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 52 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 188 EP 203 DI 10.1093/ajcp/aqw213 PG 16 WC Pathology SC Pathology GA EP0WY UT WOS:000397108600005 ER PT J AU Gratzinger, D Jaffe, ES Chadburn, A Chan, JKC de Jong, D Goodlad, JR Said, J Natkunam, Y AF Gratzinger, Dita Jaffe, Elaine S. Chadburn, Amy Chan, John K. C. de Jong, Daphne Goodlad, John R. Said, Jonathan Natkunam, Yasodha TI Primary/Congenital Immunodeficiency 2015 SH/EAHP Workshop Report-Part 5 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Review DE Primary immunodeficiency; Common variable immunodeficiency; Autoimmune lymphoproliferative syndrome; T-cell lymphoma; Double negative T cells ID AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; X-LINKED AGAMMAGLOBULINEMIA; COMMON VARIABLE IMMUNODEFICIENCY; 22Q11.2 DELETION SYNDROME; WISKOTT-ALDRICH SYNDROME; TRANSITIONAL B-CELLS; FAS GENE-MUTATIONS; T-CELLS; DIAGNOSTIC-CRITERIA; POSITIVE SELECTION AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis. DNA repair defects directly predispose to malignancy. Low immunoglobulin immunodeficiencies such as common variable immunodeficiency (CVID) have underlying T-cell repertoire abnormalities predisposing to autoimmunity and B-cell lymphoproliferations. The full spectrum of B-cell lymphoproliferative disorders occurs in primary immunodeficiency. Conclusions: Lymphoproliferations in primary immunodeficiency mirror those in other immunodeficiency settings, with monomorphic B-and sometimes T lymphoproliferative disorders enriched in DNA repair defects. Distinctive T-cell subset expansions in ALPS, CVID, and related entities can mimic lymphoma, and recognition of double-negative T-cell or cytotoxic T-cell expansions is key to avoid overdiagnosis. C1 [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, Stanford, CA 94305 USA. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [de Jong, Daphne] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands. [Goodlad, John R.] Univ Leeds, Leeds, W Yorkshire, England. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, Dept Pathol, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 69 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 204 EP 216 DI 10.1093/ajcp/aqw215 PG 13 WC Pathology SC Pathology GA EP0WY UT WOS:000397108600006 ER PT J AU van Ingen, J Wagner, D Gallagher, J Morimoto, K Lange, C Haworth, CS Floto, RA Adjemian, J Prevots, DR Griffith, DE AF van Ingen, Jakko Wagner, Dirk Gallagher, Jack Morimoto, Kozo Lange, Christoph Haworth, Charles S. Floto, R. Andres Adjemian, Jennifer Prevots, D. Rebecca Griffith, David E. CA NTM-NET TI Poor adherence to management guidelines in nontuberculous mycobacterial pulmonary diseases SO EUROPEAN RESPIRATORY JOURNAL LA English DT Letter ID COMPLEX LUNG-DISEASE C1 [van Ingen, Jakko] Radboud Univ Nijmegen, Dept Med Microbiol, Med Ctr, Nijmegen, Netherlands. [Wagner, Dirk] Univ Freiburg, Fac Med, Med Ctr, Div Infect Dis,Dept Med 2, Freiburg, Germany. [Gallagher, Jack] Clar Pharma Res LLC, Spartanburg, SC USA. [Morimoto, Kozo] Fukujuji Hosp, Japan Anti TB Assoc, Tokyo, Japan. [Lange, Christoph] Res Ctr Borstel, Div Clin Infect Dis, Borstel, Germany. [Lange, Christoph] German Ctr Infect Res DZIF, Clin TB Unit, Borstel, Germany. [Morimoto, Kozo] Univ Lubeck, Int Hlth Infect Dis, Lubeck, Germany. [Floto, R. Andres; Prevots, D. Rebecca] Karolinska Inst, Dept Med, Stockholm, Sweden. [Prevots, D. Rebecca] Univ Cambridge, Papworth Hosp, Cambridge Ctr Lung Infect, Cambridge, England. NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Griffith, David E.] US PHS, Commissioned Corps, Rockville, MD USA. [Morimoto, Kozo; Haworth, Charles S.; Griffith, David E.] Univ Texas Hlth Ctr Tyler, Tyler, TX 75708 USA. RP van Ingen, J (reprint author), Radboud Univ Nijmegen, Dept Med Microbiol, Med Ctr, Nijmegen, Netherlands. EM jakko.vaningen@radboudumc.nl FU Insmed Incorporated (Bridgewater, NJ, USA); Division of Intramural Research, National Institute of Allergy and Infectious Diseases (National Institutes of Health, Bethesda, MD, USA) FX This study was initiated and financed by Insmed Incorporated (Bridgewater, NJ, USA). The study was performed by Clarity Pharma Research LLC (Spartanburg, SC, USA) and the NTM-NET (Nontuberculous Mycobacteria Network European Trial Group). Insmed did not influence data acquisition or distribution. This work was supported in part by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases (National Institutes of Health, Bethesda, MD, USA). Funding information for this article has been deposited with the Open Funder Registry. NR 13 TC 1 Z9 1 U1 0 U2 0 PU EUROPEAN RESPIRATORY SOC JOURNALS LTD PI SHEFFIELD PA 442 GLOSSOP RD, SHEFFIELD S10 2PX, ENGLAND SN 0903-1936 EI 1399-3003 J9 EUR RESPIR J JI Eur. Resp. J. PD FEB PY 2017 VL 49 IS 2 AR 1601855 DI 10.1183/13993003.01855-2016 PG 4 WC Respiratory System SC Respiratory System GA EQ1VQ UT WOS:000397858100026 ER PT J AU Nguyen, KP Ali, MA O'Neal, TJ Szczot, I Licholai, JA Kravitz, AV AF Nguyen, Katrina P. Ali, Mohamed A. O'Neal, Timothy J. Szczot, Ilona Licholai, Julia A. Kravitz, Alexxai V. TI Feeding Experimentation Device (FED): Construction and Validation of an Open-source Device for Measuring Food Intake in Rodents SO JOVE-JOURNAL OF VISUALIZED EXPERIMENTS LA English DT Article DE Behavior; Issue 120; automation; electronics; feeding; food intake; home cage; microcontroller; open-source ID BEHAVIOR AB Food intake measurements are essential for many research studies. Here, we provide a detailed description of a novel solution for measuring food intake in mice: the Feeding Experimentation Device (FED). FED is an open-source system that was designed to facilitate flexibility in food intake studies. Due to its compact and battery powered design, FED can be placed within standard home cages or other experimental equipment. Food intake measurements can also be synchronized with other equipment in real-time via FED's transistor-transistor logic (TTL) digital output, or in post-acquisition processing as FED timestamps every event with a real-time clock. When in use, a food pellet sits within FED's food well where it is monitored via an infrared beam. When the pellet is removed by the mouse, FED logs the timestamp onto its internal secure digital (SD) card and dispenses another pellet. FED can run for up to 5 days before it is necessary to charge the battery and refill the pellet hopper, minimizing human interference in data collection. Assembly of FED requires minimal engineering background, and off-the-shelf materials and electronics were prioritized in its construction. We also provide scripts for analysis of food intake and meal patterns. Finally, FED is open-source and all design and construction files are online, to facilitate modifications and improvements by other researchers. C1 [Nguyen, Katrina P.; Ali, Mohamed A.; O'Neal, Timothy J.; Szczot, Ilona; Licholai, Julia A.; Kravitz, Alexxai V.] NIDDK, Bethesda, MD USA. [Licholai, Julia A.] Natl Ctr Complementary & Integrat Hlth, Bethesda, MD USA. [Kravitz, Alexxai V.] NIDA, NIH, Rockville, MD 20852 USA. RP Kravitz, AV (reprint author), NIDDK, Bethesda, MD USA.; Kravitz, AV (reprint author), NIDA, NIH, Rockville, MD 20852 USA. EM alexxai.kravitz@nih.gov FU Intramural Research Program of the National Institutes of Health (NIH); National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK) FX This work was supported by the Intramural Research Program of the National Institutes of Health (NIH), The National Institute of Diabetes and Digestive and Kidney Diseases (NIDDK). We thank the NIH Section on Instrumentation and the NIH Library for assistance with 3D printing. NR 10 TC 0 Z9 0 U1 0 U2 0 PU JOURNAL OF VISUALIZED EXPERIMENTS PI CAMBRIDGE PA 1 ALEWIFE CENTER, STE 200, CAMBRIDGE, MA 02140 USA SN 1940-087X J9 JOVE-J VIS EXP JI J. Vis. Exp. PD FEB PY 2017 IS 120 AR e55098 DI 10.3791/55098 PG 7 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EQ1RQ UT WOS:000397847700044 ER PT J AU Zeidan, AM Battiwalla, M Berlyne, D Winkler, T AF Zeidan, Amer M. Battiwalla, Minoo Berlyne, Deborah Winkler, Thomas TI Aplastic Anemia and MDS International Foundation (AAMDSIF): Bone marrow failure disease scientific symposium 2016 SO LEUKEMIA RESEARCH LA English DT Article DE Bone marrow failure; Myelodysplastic syndromes; Aplastic anemia; Immunobiology; Hematopoietic stem cell transplantation; Novel therapiesa ID LENALIDOMIDE AB Patient with acquired and inherited bone marrow failure syndromes (BMFS) have ineffective hematopoiesis due to impairments of the hematopoietic stem cell compartment. Common manifestations of BMFS include varying degrees of peripheral blood cytopenias and, sometimes, progression to acute myelogenous leukemia. Research efforts have been made all over the world to improve understanding of the pathogenesis of these diseases and their clinical implications. The Aplastic Anemia and MDS International Foundation (AAMDSIF) is an independent nonprofit organization whose mission is to help patients and family members cope with BMFS. Here, we summarize recent scientific discoveries in several BMFS that were presented at the fifth International Bone Marrow Failure Disease Scientific Symposium 2016 that AAMDSIF sponsored on March 17-18, 2016, in Rockville, Maryland. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Zeidan, Amer M.] Yale Univ, Sect Hematol, Dept Internal Med, 333 Cedar St,POB 208028, New Haven, CT 06520 USA. [Battiwalla, Minoo; Winkler, Thomas] NHLBI, Hematol Branch, NIH, 10 Ctr Dr, Bethesda, MD 20892 USA. [Berlyne, Deborah] Aplast Anemia & Myelodysplast Syndrome Int Fdn, 4330 East West Highway,Suite 230, Bethesda, MD USA. RP Zeidan, AM (reprint author), Yale Univ, Sect Hematol, Dept Internal Med, 333 Cedar St,POB 208028, New Haven, CT 06520 USA. EM amer.zeidan@yale.edu; minoo.battiwalla@nih.gov; winklert@nhlbi.nih.gov NR 8 TC 0 Z9 0 U1 0 U2 0 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0145-2126 EI 1873-5835 J9 LEUKEMIA RES JI Leuk. Res. PD FEB PY 2017 VL 53 BP 8 EP 12 DI 10.1016/j.leukres.2016.11.011 PG 5 WC Oncology; Hematology SC Oncology; Hematology GA EQ1QU UT WOS:000397845500002 PM 27923195 ER PT J AU Brown, TM Fee, E AF Brown, Theodore M. Fee, Elizabeth TI Introduction to a Reprint of Emilia Lombardi's "Enhancing Transgender Health Care" SO AMERICAN JOURNAL OF PUBLIC HEALTH LA English DT Editorial Material ID PUBLIC-HEALTH; RESILIENCE; GAY C1 [Brown, Theodore M.] Univ Rochester, Dept Hist, 601 Elmwood Ave, Rochester, NY 14627 USA. [Brown, Theodore M.] Univ Rochester, Dept Publ Hlth Sci, Rochester, NY USA. [Fee, Elizabeth] NIH, Natl Lib Med, Bldg 10, Bethesda, MD 20892 USA. RP Brown, TM (reprint author), Univ Rochester, Dept Hist, 601 Elmwood Ave, Rochester, NY 14627 USA. EM Theodore_Brown@urmc.rochester.edu NR 10 TC 0 Z9 0 U1 0 U2 0 PU AMER PUBLIC HEALTH ASSOC INC PI WASHINGTON PA 800 I STREET, NW, WASHINGTON, DC 20001-3710 USA SN 0090-0036 EI 1541-0048 J9 AM J PUBLIC HEALTH JI Am. J. Public Health PD FEB PY 2017 VL 107 IS 2 BP 232 EP 233 DI 10.2105/AJPH.2016.303598 PG 2 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EO9XG UT WOS:000397040800019 PM 27997243 ER PT J AU Hedman, AK Mendelson, MM Marioni, RE Gustafsson, S Joehanes, R Irvin, MR Zhi, DG Sandling, JK Yao, C Liu, CY Liang, LM Huan, TX McRae, AF Demissie, S Shah, S Starr, JM Cupples, LA Deloukas, P Spector, TD Sundstrom, J Krauss, RM Arnett, DK Deary, IJ Lind, L Levy, D Ingelsson, E AF Hedman, Asa K. Mendelson, Michael M. Marioni, Riccardo E. Gustafsson, Stefan Joehanes, Roby Irvin, Marguerite R. Zhi, Degui Sandling, Johanna K. Yao, Chen Liu, Chunyu Liang, Liming Huan, Tianxiao McRae, Allan F. Demissie, Serkalem Shah, Sonia Starr, John M. Cupples, L. Adrienne Deloukas, Panos Spector, Timothy D. Sundstrom, Johan Krauss, Ronald M. Arnett, Donna K. Deary, Ian J. Lind, Lars Levy, Daniel Ingelsson, Erik TI Epigenetic Patterns in Blood Associated With Lipid Traits Predict Incident Coronary Heart Disease Events and Are Enriched for Results From Genome-Wide Association Studies SO CIRCULATION-CARDIOVASCULAR GENETICS LA English DT Article DE cardiovascular diseases; DNA Methylation; epigenomics; gene expression; lipids ID ENDOTHELIN-CONVERTING ENZYME-1; LARGE GENE LISTS; BODY-MASS INDEX; DNA METHYLATION; EPIGENOME-WIDE; CHOLESTEROL EFFLUX; ARTERY-DISEASE; DIET NETWORK; REGULATORY ELEMENTS; WAIST CIRCUMFERENCE AB Background- Genome-wide association studies have identified loci influencing circulating lipid concentrations in humans; further information on novel contributing genes, pathways, and biology may be gained through studies of epigenetic modifications. Methods and Results- To identify epigenetic changes associated with lipid concentrations, we assayed genome-wide DNA methylation at cytosine-guanine dinucleotides (CpGs) in whole blood from 2306 individuals from 2 population-based cohorts, with replication of findings in 2025 additional individuals. We identified 193 CpGs associated with lipid levels in the discovery stage (P < 1.08E-07) and replicated 33 (at Bonferroni-corrected P < 0.05), including 25 novel CpGs not previously associated with lipids. Genes at lipid-associated CpGs were enriched in lipid and amino acid metabolism processes. A differentially methylated locus associated with triglyceridesand high-density lipoprotein cholesterol (HDL- C; cg27243685; P= 8.1E-26 and 9.3E-19) was associated with cis-expression of a reverse cholesterol transporter (ABCG1; P= 7.2E-28) and incident cardiovascular disease events (hazard ratio per SD increment, 1.38; 95% confidence interval, 1.15-1.66; P= 0.0007). We found significant cis-methylation quantitative trait loci at 64% of the 193 CpGs with an enrichment of signals from genome-wide association studies of lipid levels (P-TC = 0.004, PHDL-C = 0.008 and P-triglycerides = 0.00003) and coronary heart disease ( P= 0.0007). For example, genome-wide significant variants associated with low-density lipoprotein cholesterol and coronary heart disease at APOB were cis-methylation quantitative trait loci for a low-density lipoprotein cholesterol-related differentially methylated locus. Conclusions-We report novel associations of DNA methylation with lipid levels, describe epigenetic mechanisms related to previous genome-wide association studies discoveries, and provide evidence implicating epigenetic regulation of reverse cholesterol transport in blood in relation to occurrence of cardiovascular disease events. C1 [Hedman, Asa K.; Gustafsson, Stefan; Ingelsson, Erik] Uppsala Univ, Dept Med Sci, Mol Epidemiol & Sci Life Lab, Uppsala, Sweden. [Sandling, Johanna K.] Uppsala Univ, Dept Med Sci, Mol Med & Sci Life Lab, Uppsala, Sweden. [Hedman, Asa K.] Karolinska Inst, Dept Med Solna, Cardiovasc Med Unit, Stockholm, Sweden. [Mendelson, Michael M.; Joehanes, Roby; Yao, Chen; Liu, Chunyu; Huan, Tianxiao; Demissie, Serkalem; Cupples, L. Adrienne; Levy, Daniel] Framingham Heart Dis Epidemiol Study, Framingham, MA USA. [Liu, Chunyu; Demissie, Serkalem; Cupples, L. Adrienne] Boston Univ, Dept Biosci, Boston, MA 02215 USA. [Mendelson, Michael M.] Boston Univ, Boston, MA 02215 USA. [Mendelson, Michael M.] Boston Childrens Hosp, Dept Cardiol, Boston, MA USA. [Mendelson, Michael M.; Joehanes, Roby; Yao, Chen; Liu, Chunyu; Huan, Tianxiao; Levy, Daniel] NHLBI, Populat Sci Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Marioni, Riccardo E.; Starr, John M.; Deary, Ian J.] Univ Edinburgh, Ctr Cognit Ageing & Cognit Epidemiol, Edinburgh EH8 9YL, Midlothian, Scotland. [Marioni, Riccardo E.] Univ Edinburgh, Inst Genet & Mol Med, Ctr Genom & Expt Med, Med Genet Sect, Edinburgh EH8 9YL, Midlothian, Scotland. [Starr, John M.] Univ Edinburgh, Alzheimer Scotland Dementia Res Ctr, Edinburgh EH8 9YL, Midlothian, Scotland. [Deary, Ian J.] Univ Edinburgh, Dept Psychol, Edinburgh EH8 9YL, Midlothian, Scotland. [Marioni, Riccardo E.; McRae, Allan F.; Shah, Sonia] Univ Queensland, Queensland Brain Inst, Brisbane, Qld, Australia. [McRae, Allan F.; Shah, Sonia] Univ Queensland, Inst Mol Biosci, Brisbane, Qld, Australia. [Joehanes, Roby] Harvard Med Sch, Hebrew Senior Life, Boston, MA USA. [Irvin, Marguerite R.] Univ Alabama Birmingham, Sch Publ Hlth, Dept Epidemiol, Birmingham, AL 35294 USA. [Zhi, Degui] Univ Alabama Birmingham, Dept Biostat, Sect Stat Genet, Birmingham, AL 35294 USA. [Liang, Liming] Harvard Sch Publ Hlth, Dept Biostat, Boston, MA USA. [Deloukas, Panos] Queen Mary Univ London, Barts & London Sch Med & Dent, William Harvey Res Inst, London, England. [Deloukas, Panos] King Abdulaziz Univ, Princess Al Jawhara Al Brahim Ctr Excellence Res, Jeddah, Saudi Arabia. [Spector, Timothy D.] Kings Coll London, Dept Twin Res & Genet Epidemiol, London WC2R 2LS, England. [Sundstrom, Johan; Lind, Lars] Univ Uppsala Hosp, Deparment Med Sci, Cardiovasc Epidemiol, Uppsala, Sweden. [Krauss, Ronald M.] Childrens Hosp Oakland, Res Inst, Oakland, CA 94609 USA. [Arnett, Donna K.] Univ Kentucky, Coll Publ Hlth, Lexington, KY 40506 USA. [Ingelsson, Erik] Stanford Univ, Sch Med, Dept Med, Div Cardiovasc Med, 300 Pasteur Dr,Mail Code 5773, Stanford, CA 94305 USA. RP Ingelsson, E (reprint author), Stanford Univ, Sch Med, Dept Med, Div Cardiovasc Med, 300 Pasteur Dr,Mail Code 5773, Stanford, CA 94305 USA. EM eriking@stanford.edu OI Mendelson, Michael/0000-0001-7590-3958 FU National Institutes of Health (NIH) [N01-HC-25195, HHSN2682015000011, P30 DK46200, 1R01DK106236-01A1, 1R01HL135313-01]; Division of Intramural Research, National Heart, Lung, and Blood Institute (NHLBI), NIH; NIH Director's Challenge Award; Center for Information Technology, NIH, Bethesda, MD; Tommy Kaplan Fund, Boston Children's Hospital; Knut and Alice Wallenberg (KAW) Foundation; Swedish Research Council (VR) [2012-1397]; Swedish Heart-Lung Foundation [20120197]; Uppsala University Hospital (ALF-medel); VR; KAW Foundation; UK Biotechnology and Biological Sciences Research Council (BBSRC); Royal Society; Chief Scientist Office of the Scottish Government; Age UK (The Disconnected Mind project); Centre for Cognitive Ageing and Cognitive Epidemiology (CCACE); Centre for Cognitive Ageing and Cognitive Epidemiology (Pilot Fund award); Wellcome Trust Institutional Strategic Support Fund; University of Edinburgh; University of Queensland; BBSRC; Medical Research Council; University of Edinburgh , cross-council Lifelong Health and Wellbeing initiative [MR/K026992/1]; National Health and Medical Research Council (NHMRC) [1010374]; NIH National Heart, Lung and Blood Institute [R01 HL104135-01]; European Community's Seventh Framework Programme (FP7); European Union; National Institute for Health Research-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust; King's College London; Division of Intramural Research, NHLBI; NHMRC Fellowship [1083656] FX FHS (Framingham Heart Study) is funded by National Institutes of Health (NIH) contract N01-HC-25195 and HHSN268201500001I and administered by Boston University. The laboratory work for this investigation was funded by the Division of Intramural Research, National Heart, Lung, and Blood Institute (NHLBI), NIH, and an NIH Director's Challenge Award (Dr Levy, Principal Investigator). The analytic component of this project was funded by the Division of Intramural Research, NHLBI, and the Center for Information Technology, NIH, Bethesda, MD. This study used the computational resources of the Biowulf system at the NIH, Bethesda, MD (https://hpc.nih.gov/). Dr Mendelson is partly supported by the Tommy Kaplan Fund, Boston Children's Hospital. Dr Liang is partially supported by NIH grant P30 DK46200. Dr Ingelsson is supported by Knut and Alice Wallenberg (KAW) Foundation, Swedish Research Council (VR; grant no. 2012-1397), Swedish Heart-Lung Foundation (20120197) NIH grants 1R01DK106236-01A1 and 1R01HL135313-01. Genomewide DNA methylation profiling in PIVUS was funded by the Uppsala University Hospital (ALF-medel) and was performed by the SNP& SEQ Technology Platform in Uppsala. The facility is part of the National Genomics Infrastructure Sweden and Science for Life Laboratory. The SNP& SEQ Platform is also supported by the VR and the KAW Foundation. Phenotype collection in the LBC1921 (Lothian Birth Cohorts of 1921) study was supported by the UK Biotechnology and Biological Sciences Research Council (BBSRC), The Royal Society and The Chief Scientist Office of the Scottish Government. Phenotype collection in the LBC1936 (Lothian Birth Cohorts of 1936) study was supported by Age UK (The Disconnected Mind project). Methylation typing was supported by the Centre for Cognitive Ageing and Cognitive Epidemiology (CCACE; Pilot Fund award), Age UK, The Wellcome Trust Institutional Strategic Support Fund, The University of Edinburgh, and The University of Queensland. Drs Marioni, Starr, and Deary are members of the University of Edinburgh CCACE. CCACE is supported by funding from the BBSRC, the Medical Research Council and the University of Edinburgh as part of the cross-council Lifelong Health and Wellbeing initiative (MR/K026992/1). Research reported in this publication was supported by National Health and Medical Research Council (NHMRC) project grant 1010374 and an NHMRC Fellowship to Dr McRae (1083656). The GOLDN (Genetics of Lipid Lowering Drugs and Diet Network) study was supported by NIH National Heart, Lung and Blood Institute grant R01 HL104135-01. The MuTHER study was funded by the Wellcome Trust; European Community's Seventh Framework Programme (FP7/2007-2013). The study as part of TwinsUK also receives support from the Medical Research Council, European Union, National Institute for Health Research-funded BioResource, Clinical Research Facility and Biomedical Research Centre based at Guy's and St Thomas' NHS Foundation Trust in partnership with King's College London. Dr Spector is a holder of an European Research Council Advanced Principal Investigator award. NR 77 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1942-325X EI 1942-3268 J9 CIRC-CARDIOVASC GENE JI Circ.-Cardiovasc. Genet. PD FEB PY 2017 VL 10 IS 1 AR UNSP e001487 DI 10.1161/CIRCGENETICS.116.001487 PG 47 WC Cardiac & Cardiovascular Systems; Genetics & Heredity SC Cardiovascular System & Cardiology; Genetics & Heredity GA EO7HP UT WOS:000396862100004 ER PT J AU Rao, VK Christ, A Su, H Kashyap, A Webster, S Sediva, A Dalm, VASH Van Hagen, PM Sloth, B Lenardo, MJ Cabanski, M Burkhart, C Uzel, G AF Rao, V. Koneti Christ, Andreas Su, Hua Kashyap, Anuj Webster, Sharon Sediva, Anna Dalm, Virgil A. S. H. Van Hagen, P. Martin Sloth, Birgitte Lenardo, Michael J. Cabanski, Maciej Burkhart, Christoph Uzel, Gulbu TI SUCCESSFUL CLINICAL STUDY OF LENIOLISIB (CDZ173), A SMALL MOLECULE PI3K-DELTA INHIBITOR, IN PATIENTS WITH APDS/PASLI SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Rao, V. Koneti; Su, Hua; Kashyap, Anuj; Webster, Sharon; Uzel, Gulbu] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Christ, Andreas] Novartis Inst Biomed Res, Basel, Switzerland. [Sediva, Anna] Charles Univ Prague, Fac Med 2, Motol Univ Hosp, Dept Immunol, Prague, Czech Republic. [Dalm, Virgil A. S. H.; Van Hagen, P. Martin] Erasmus MC, Dept Internal Med, Rotterdam, Netherlands. [Sloth, Birgitte] Novartis Pharma AG, NIBR, TM, CS&I, Basel, Switzerland. [Lenardo, Michael J.] NIAID, Immunol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA. [Cabanski, Maciej; Burkhart, Christoph] Novartis Pharma AG, Basel, Switzerland. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5139 BP 204 EP 204 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700034 ER PT J AU Urban, AK Marciano, BE Davis, J Welch, P Darnell, D Peterson, J Holland, SM Freeman, AF AF Urban, Amanda K. Marciano, Beatriz E. Davis, Joie Welch, Pamela Darnell, Dirk Peterson, Joy Holland, Steven M. Freeman, Alexandra F. TI LONG TERM PROGNOSIS IN AUTOSOMAL DOMINANT HYPER IgE SYNDROME SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Urban, Amanda K.] NIAID, NIH, LCID, Leidos Biomed Res Inc, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Marciano, Beatriz E.; Holland, Steven M.; Freeman, Alexandra F.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Davis, Joie] NIAID, NIH, LCID, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Welch, Pamela] NIAID, DCR, ICMOB, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Darnell, Dirk] NIH, Dept Nursing, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Peterson, Joy] NIAID, Clin Monitoring Res Program, Frederick Natl Lab, Leidos Biomed Res,LCID, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5177 BP 209 EP 210 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700048 ER PT J AU Takeda, AJ Zhang, Y Dornan, GL Siempelkamp, BD Jenkins, ML Matthews, HF McElwee, JJ Bi, WM Seeborg, FO Su, HC Burke, JE Lucas, CL AF Takeda, Andrew J. Zhang, Yu Dornan, Gillian L. Siempelkamp, Braden D. Jenkins, Meredith L. Matthews, Helen F. McElwee, Joshua J. Bi, Weimin Seeborg, Filiz O. Su, Helen C. Burke, John E. Lucas, Carrie L. TI NOVEL PIK3CD MUTATIONS AFFECTING N-TERMINAL RESIDUES OF p110d CAUSE HYPERACTIVE PI3K SIGNALING AND APDS1 IN HUMANS SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Takeda, Andrew J.; Lucas, Carrie L.] Yale Univ, Immunobiol, New Haven, CT USA. [Zhang, Yu; Su, Helen C.] NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Dornan, Gillian L.; Siempelkamp, Braden D.; Jenkins, Meredith L.; Burke, John E.] Univ Victoria, Biochem & Microbiol, Victoria, BC, Canada. [Matthews, Helen F.] NIAID, Immunol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA. [McElwee, Joshua J.] Merck & Co Inc, Merck Res Labs, Boston, MA USA. [Bi, Weimin] Baylor Coll Med, Mol & Human Genet Cytogenet, Houston, TX 77030 USA. [Seeborg, Filiz O.] Baylor Coll Med, Pediat Immunol Allergy & Rheumatol, Houston, TX 77030 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5185 BP 211 EP 212 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700052 ER PT J AU Marsh, R Rosenzweig, SD Zhang, KJ Roberts, J Amrol, D Roehrs, P Kissell, D Husami, A Owsley, E Chaturvedi, V Kuehn, HS AF Marsh, Rebecca Rosenzweig, Sergio D. Zhang, Kejian Roberts, Joseph Amrol, David Roehrs, Philip Kissell, Diane Husami, Ammar Owsley, Erika Chaturvedi, Vijaya Kuehn, Hye Sun TI A NOVEL DOMINANT NEGATIVE IKZF1 MUTATION C.476A > G (N159S) LEADS TO A COMBINED IMMUNE DEFICIENCY WITH ABSENT B CELLS AND ABNORMAL T CELL MATURATION AND FUNCTION SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Marsh, Rebecca; Chaturvedi, Vijaya] Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH 45229 USA. [Rosenzweig, Sergio D.] NIH, Immunol Serv, Dept Lab Med, Bldg 10, Bethesda, MD 20892 USA. [Zhang, Kejian; Husami, Ammar] Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA. [Roberts, Joseph] Duke Univ, Durham, NC USA. [Amrol, David] Univ South Carolina, Sch Med, Columbia, SC USA. [Roehrs, Philip] Univ North Carolina Chapel Hill, Pediat Hematol Oncol, Chapel Hill, NC USA. [Kissell, Diane; Owsley, Erika] Cincinnati Childrens Hosp, Cincinnati, OH USA. [Kuehn, Hye Sun] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5191 BP 212 EP 213 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700054 ER PT J AU Gernez, Y Filion, CA Tsuang, A Smith, TD Niemela, J Rosenzweig, S Cunningham-Rundles, C AF Gernez, Yael Filion, Charles A. Tsuang, Angela Smith, Tukisa D. Niemela, Julie Rosenzweig, Sergio Cunningham-Rundles, Charlotte TI SEVERE AUTO-IMMUNE ENTEROPATHY IN A PATIENT WITH A LOSS OF FUNCTION MUTATION IN TUMOR NECROSIS FACTOR ALPHA-INDUCED PROTEIN 3 (TNFAIP3/A20) SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Gernez, Yael; Filion, Charles A.; Tsuang, Angela; Smith, Tukisa D.; Cunningham-Rundles, Charlotte] Icahn Sch Med Mt Sinai, Dept Med, Div Clin Immunol, New York, NY 10029 USA. [Niemela, Julie] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Rosenzweig, Sergio] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5236 BP 222 EP 222 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700075 ER PT J AU Jing, HE Abolhassani, H Edwards, ESJ Ikinciogullari, KA Borte, S Buggert, M Du, LK Lennikov, M Romano, R Caridha, R Bade, S Zhang, Y Frederiksen, J Fang, MY Bal, SK Haskologlu, S Dogu, F Tacyildiz, N Matthews, HF McElwee, JJ Gostick, E Price, DA Palendira, U Aghamohammadi, A Boisson, B Rezaei, N Karlsson, A Lenardo, MJ Casanova, JL Hammarstrom, L Tangye, SG Pan-Hammarstrom, Q Su, HC AF Jing, Huie Abolhassani, Hassan Edwards, Emily S. J. Ikinciogullari, Kamile Aydan Borte, Stephan Buggert, Marcus Du, Likun Lennikov, Mami Romano, Rosa Caridha, Rozina Bade, Sangeeta Zhang, Yu Frederiksen, Juliet Fang, Mingyan Bal, Sevgi Kostel Haskologlu, Sule Dogu, Figen Tacyildiz, Nurdan Matthews, Helen F. McElwee, Joshua J. Gostick, Emma Price, David A. Palendira, Umaimainthan Aghamohammadi, Asghar Boisson, Bertrand Rezaei, Nima Karlsson, Annika Lenardo, Michael J. Casanova, Jean-Laurent Hammarstrom, Lennart Tangye, Stuart G. Pan-Hammarstrom, Qiang Su, Helen C. TI COMBINED IMMUNODEFICIENCY AND EPSTEIN-BARR VIRUS-INDUCED B CELL MALIGNANCY IN HUMANS WITH INHERITED CD70 DEFICIENCY SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Jing, Huie; Bade, Sangeeta; Zhang, Yu; Su, Helen C.] NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Abolhassani, Hassan; Aghamohammadi, Asghar; Rezaei, Nima] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran. [Edwards, Emily S. J.; Tangye, Stuart G.] Garvan Inst Med Res, Div Immunol, Darlinghurst, NSW, Australia. [Ikinciogullari, Kamile Aydan; Bal, Sevgi Kostel; Dogu, Figen; Tacyildiz, Nurdan] Ankara Univ, Sch Med, Dept Pediat Immunol & Allergy, Ankara, Turkey. [Borte, Stephan] ImmunoDeficiencyCtr Leipzig, Leipzig, Germany. [Buggert, Marcus; Du, Likun; Romano, Rosa; Caridha, Rozina; Fang, Mingyan; Karlsson, Annika; Hammarstrom, Lennart; Pan-Hammarstrom, Qiang] Karolinska Univ, Dept Lab Med, Huddinge Hosp, Karolinska Inst, Stockholm, Sweden. [Lennikov, Mami; Matthews, Helen F.; Lenardo, Michael J.] NIAID, Immunol Lab, NIH, Bldg 10, Bethesda, MD 20892 USA. [Frederiksen, Juliet] Tech Univ Denmark, Dept Syst Biol, Lyngby, Denmark. [Haskologlu, Sule] Ankara Univ, Dept Pediat Immunol & Allergy, Sch Med, Ankara, Turkey. [McElwee, Joshua J.] Merck & Co Inc, Merck Res Labs, Boston, MA USA. [Gostick, Emma; Price, David A.] Cardiff Univ, Sch Med, Div Infect & Immun, Cardiff, S Glam, Wales. [Palendira, Umaimainthan] Univ Sydney, Centenary Inst, Newtown, Tas, Australia. [Boisson, Bertrand; Casanova, Jean-Laurent] Rockefeller Univ, St Giles Lab Human Genet Infect Dis, 1230 York Ave, New York, NY 10021 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5276 BP 230 EP 230 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700093 ER PT J AU Zhang, Y Ash, S Ham, H Lamborn, IT Su, HC Randolph, AG AF Zhang, Yu Ash, Stephanie Ham, Hyoungjun Lamborn, Ian T. Su, Helen C. Randolph, Adrienne G. TI IDENTIFICATION OF GENETIC SUSCEPTIBILITY VARIANTS FOR SEVERE VIRAL RESPIRATORY INFECTIONS IN CHILDREN SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Zhang, Yu; Ham, Hyoungjun; Lamborn, Ian T.; Su, Helen C.] NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Ash, Stephanie; Randolph, Adrienne G.] Boston Childrens Hosp, Boston, MA USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5279 BP 230 EP 231 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700094 ER PT J AU Pai, SY Marsh, R Kohn, DB Gaspar, HB Hacein-Bey-Abina, S Notarangelo, LD Malik, P De Oliveira, S Fischer, A Cavazzana, M Bushman, FD Thrasher, A Williams, DA AF Pai, Sung-Yun Marsh, Rebecca Kohn, Donald B. Gaspar, H. Bobby Hacein-Bey-Abina, Salima Notarangelo, Luigi D. Malik, Punam De Oliveira, Satiro Fischer, Alain Cavazzana, Marina Bushman, Frederic D. Thrasher, Adrian Williams, David A. TI SAFETY AND EFFICACY OF GENE THERAPY USING A MODIFIED SELF-INACTIVATING GAMMARETROVIRAL VECTOR FOR SCID-X1 SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Pai, Sung-Yun; Williams, David A.] Boston Childrens Hosp, Div Hematol Oncol, Boston, MA USA. [Marsh, Rebecca] Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH 45229 USA. [Kohn, Donald B.] Univ Calif Los Angeles, Dept Pediat, Los Angeles, CA 90024 USA. [Kohn, Donald B.] Univ Calif Los Angeles, Dept Microbiol Immunol & Mol Genet, Los Angeles, CA USA. [Gaspar, H. Bobby; Thrasher, Adrian] UCL, London, England. [Hacein-Bey-Abina, Salima] Grp Hosp Univ Paris Sud, Assistance Publ Hop Paris, Clin Immunol Lab, Le Kremlin Bicetre, France. [Notarangelo, Luigi D.] NIAID, Bethesda, MD USA. [Malik, Punam] Cincinnati Childrens Hosp Med Ctr, Dept Pediat, Cincinnati, OH 45229 USA. [De Oliveira, Satiro] Univ Calif Los Angeles, Los Angeles, CA USA. [Fischer, Alain] Hop Necker Enfants Malad, Assistance Publ Hop Paris, Unite Immunohematol & Rheumatol Pediat, Paris, France. [Cavazzana, Marina] Necker Childrens Hosp, Assistance Publ Hop Paris, Biotherapy Dept, Paris, France. [Bushman, Frederic D.] Univ Penn, Dept Microbiol, Philadelphia, PA 19104 USA. NR 0 TC 0 Z9 0 U1 1 U2 1 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5286 BP 232 EP 233 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700099 ER PT J AU Kuhns, DB Wu, XL Hsu, AP Sun, D Griffith, P Holland, SM Malech, H Gallin, JI AF Kuhns, Douglas B. Wu, Xiaolin Hsu, Amy P. Sun, David Griffith, Paul Holland, Steven M. Malech, Harry Gallin, John I. TI ANALYSIS OF NCF1 IN PATIENTS WITH p47phox DEFICIENT CHRONIC GRANULOMATOUS DISEASE (CGD) AND NORMAL SUBJECTS BY DROPLET DIGITAL PCR (DDPCR) SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Kuhns, Douglas B.] NCI Frederick, Leidos Biomed Res Inc, Frederick, MD USA. [Wu, Xiaolin; Sun, David; Griffith, Paul] Leidos Biomed Res Inc, Frederick Natl Lab Canc Res, Canc Res Technol Program, Genom Lab, Frederick, MD USA. [Hsu, Amy P.; Holland, Steven M.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Malech, Harry; Gallin, John I.] NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5305 BP 235 EP 235 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700104 ER PT J AU Zerbe, CS Kreuzburg, SA Daub, J Marciano, BE Strongin, A Holland, S Heller, T AF Zerbe, Christa S. Kreuzburg, Samantha A. Daub, Janine Marciano, Beatriz E. Strongin, Anna Holland, StevenM. Heller, Theo TI VEDOLIZUMAB IN CHRONIC GRANULOMATOUS DISEASE: A SAFE AND PROMISING BRIDGE THERAPY FOR CGD RELATED COLITIS. SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Zerbe, Christa S.; Kreuzburg, Samantha A.; Daub, Janine; Marciano, Beatriz E.; Holland, StevenM.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Strongin, Anna] NIDDK, Bethesda, MD 20892 USA. [Heller, Theo] NIDDK, Liver Dis Branch, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5306 BP 235 EP 235 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700105 ER PT J AU Ma, CA Stinson, JR Zhang, Y Abbott, JK Hauk, PJ Reynolds, PR Nelson, CG Lyons, JJ Ruffo, E Dorjbal, B Glauzy, S Stoddard, JL Niemela, J Palma, A Oleastro, M Danielian, S Prieto, E Bernasconi, A Dubra, G Zaiat, J Marti, M Kim, B Cooper, MA Romberg, N Meffre, E Gelfand, EW Snow, AL Milner, JD McElwee, JJ AF Ma, Chi A. Stinson, Jeffrey R. Zhang, Yuan Abbott, Jordan K. Hauk, Pia J. Reynolds, Paul R. Nelson, Celeste G. Lyons, Jonathan J. Ruffo, Elisa Dorjbal, Batsukh Glauzy, Salome Stoddard, Jennifer L. Niemela, Julie Palma, Alejandro Oleastro, Matias Danielian, Silvia Prieto, Emma Bernasconi, Andrea Dubra, Geronimo Zaiat, Jonathan Marti, Marcelo Kim, Brian Cooper, Megan A. Romberg, Neil Meffre, Eric Gelfand, Erwin W. Snow, Andrew L. Milner, Joshua D. McElwee, Joshua J. TI GERMLINE HYPOMORPHIC, DOMINANT NEGATIVE CARD11 MUTATIONS IN SEVERE ATOPIC DISEASE. SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Ma, Chi A.; Zhang, Yuan; Nelson, Celeste G.; Lyons, Jonathan J.; Milner, Joshua D.] NIAID, Lab Allerg Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Stinson, Jeffrey R.; Ruffo, Elisa; Dorjbal, Batsukh; Snow, Andrew L.] Uniformed Serv Univ Hlth Sci, Dept Pharmacol & Mol Therapeut, Bethesda, MD 20814 USA. [Abbott, Jordan K.; Reynolds, Paul R.; Gelfand, Erwin W.] Natl Jewish Hlth, Dept Pediat, Denver, CO USA. [Hauk, Pia J.] Natl Jewish Hlth, Dept Pediat, Div Pediat Allergy & Clin Immunol, Denver, CO USA. [Glauzy, Salome; Meffre, Eric] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA. [Stoddard, Jennifer L.; Niemela, Julie] NIH, Dept Lab Med, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. [Palma, Alejandro; Oleastro, Matias; Danielian, Silvia; Prieto, Emma; Bernasconi, Andrea] Hosp Nacl Pediat Prof Dr Juan P Garrahan, Serv Immunol & Reumatol, Buenos Aires, DF, Argentina. [Dubra, Geronimo; Zaiat, Jonathan; Marti, Marcelo] UBA, Fac Ciencias Exactas & Nat, Inst Calculo, Plataforma Bioinformat Argentina, Buenos Aires, DF, Argentina. [Kim, Brian] Washington Univ, Sch Med, Ctr Study Itch, St Louis, MO USA. [Cooper, Megan A.] Washington Univ, Div Rheumatol, Pediat, St Louis, MO USA. [Cooper, Megan A.] Washington Univ, Pathol & Immunol, St Louis, MO USA. [Romberg, Neil] Childrens Hosp Philadelphia, Dept Pediat, Philadelphia, PA 19104 USA. [McElwee, Joshua J.] Merck & Co Inc, Merck Res Labs, Boston, MA USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5337 BP 243 EP 243 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700123 ER PT J AU Westermann, E Grossi, A Fioredda, F Giardino, S Cappelli, E Terranova, P Palmisani, E Farmer, J Foldvari, Z Yamasaki, Y Faraci, M Lanino, E Notarangelo, LD Dufour, C Ceccherini, I Walter, JE Miano, M AF Westermann, Emma Grossi, Alice Fioredda, Francesca Giardino, Stefano Cappelli, Enrico Terranova, Paola Palmisani, Elena Farmer, Jocelyn Foldvari, Zsofia Yamasaki, Yasuhiro Faraci, Maura Lanino, Edoardo Notarangelo, Luigi D. Dufour, Carlo Ceccherini, Isabella Walter, Jolan E. Miano, Maurizio TI PARTIAL RAG DEFICIENCY IN A CHILD WITH AUTOIMMUNE CYTOPENIA AND FEATURES OF AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME (ALPS) SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Westermann, Emma] Univ S Florida, Morsani Coll Med, Dept Internal Med, Div Allergy Immunol, Tampa, FL USA. [Grossi, Alice] Ist Giannina Gaslini, Mol Genet Unit, Genoa, Italy. [Fioredda, Francesca; Cappelli, Enrico; Terranova, Paola; Palmisani, Elena] Ist Giannina Gaslini, Haematol Unit, Genoa, Italy. [Giardino, Stefano; Faraci, Maura] Ist Giannina Gaslini, Stem Cell Transplantat Unit, Genoa, Italy. [Farmer, Jocelyn] Massachusetts Gen Hosp, Dept Allergy & Immunol, Boston, MA 02114 USA. [Foldvari, Zsofia] Radiumhospitalet, Oslo Univ Hosp, Dept Canc Immunol, Oslo, Norway. [Foldvari, Zsofia] Univ Oslo, Inst Clin Med, KG Jebsen Ctr Canc Immunotherapy, Oslo, Norway. [Foldvari, Zsofia] Univ Oslo, Inst Clin Med, KG Jebsen Ctr Inflammat Res, Oslo, Norway. [Yamasaki, Yasuhiro; Notarangelo, Luigi D.] NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Lanino, Edoardo] Ist Giannina Gaslini, Stem Cell Transplantat Grp, Genoa, Italy. [Dufour, Carlo] Ist Giannina Gaslini, Haematol Unit, IRCCS, Genoa, Italy. [Ceccherini, Isabella] Ist Giannina Gaslini, Mol Genet Unit, Genoa, Italy. [Walter, Jolan E.] Univ S Florida, Dept Pediat, Div Pediat Allergy & Immunol, St Petersburg, FL USA. [Miano, Maurizio] IRCCS Ist Giannina Gaslini, Haemtol Unit, Genoa, Italy. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5346 BP 244 EP 245 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700126 ER PT J AU Kreuzburg, SA Lau, K Fink, D Karanovic, D Long-Priel, D Kuhns, DB Holland, SM Zerbe, CS AF Kreuzburg, Samantha A. Lau, Karen Fink, Danielle Karanovic, Djuro Long-Priel, Deborah Kuhns, Douglas B. Holland, Steven M. Zerbe, Christa S. TI IMPORTANCE OF GENETIC CONFIRMATION IN THE DIAGNOSIS OF CHRONIC GRANULOMATOUS DISEASE SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Kreuzburg, Samantha A.; Kuhns, Douglas B.; Holland, Steven M.; Zerbe, Christa S.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Karanovic, Djuro] NCI, Leidos Biomed Res Inc, Frederick, MD 21701 USA. [Holland, Steven M.] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5351 BP 245 EP 246 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700128 ER PT J AU Kumar, AR Hickstein, DD Ghadir, SS Bertuch, AA Krance, RA Hsu, AP Hashem, H Babor, F Meisel, R Koskenvuo, M Taskinen, M Seppanen, M Borkhardt, A Ehl, S Jordan, MB Chambers, E Kastner, D Torgerson, TR Holland, SM Dalal, J Bredius, RG van Montfrans, J Moens, L Hershfield, M Meyts, I Bosch, B AF Kumar, Ashish R. Hickstein, Dennis D. Ghadir, Sasa S. Bertuch, Alison A. Krance, Robert A. Hsu, Amy P. Hashem, Hasan Babor, Florian Meisel, Roland Koskenvuo, Mikka Taskinen, Mervi Seppanen, Mikko Borkhardt, Arndt Ehl, Stephan Jordan, Michael B. Chambers, Eugene Kastner, Daniel Torgerson, Troy R. Holland, Steven M. Dalal, Jignesh Bredius, Robert Gm van Montfrans, Joris Moens, Leen Hershfield, Michael Meyts, Isabelle Bosch, Barbara TI HEMATOPOIETIC STEM CELL TRANSPLANTATION RESCUES THE VASCULAR, HAEMATOLOGICAL AND IMMUNOLOGICAL PHENOTYPE IN ADENOSINE DEAMINASE 2 DEFICIENCY SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Kumar, Ashish R.] Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH 45229 USA. [Hickstein, Dennis D.] NCI, Expt Transplantat & Immunol Branch, Div Basic Sci, NIH, Bethesda, MD 20892 USA. [Ghadir, Sasa S.] Texas Childrens Hosp, Baylor Coll Med, Ctr Cell & Gene Therapy, Dept Pediat, Houston, TX 77030 USA. [Ghadir, Sasa S.] Texas Childrens Hosp, Baylor Coll Med, Texas Childrens Canc Hematol Ctr, Houston, TX 77030 USA. [Bertuch, Alison A.] Texas Childrens Canc & Hematol Ctr, Baylor Coll Med, Dept Mol & Human Genet, Dept Pediat,Hematol Oncol Sect, Houston, TX USA. [Krance, Robert A.] Texas Childrens Hosp, Texas Childrens Canc Ctr, Houston, TX USA. [Krance, Robert A.] Baylor Coll Med, Houston, TX 77030 USA. [Hsu, Amy P.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hashem, Hasan] Nationwide Childrens Hosp, Pediat Hematol Oncol & BMT, Columbus, OH USA. [Babor, Florian; Meisel, Roland; Borkhardt, Arndt] Heinrich Heine Univ Dusseldorf, Dept Pediat Oncol Hematol & Clin Immunol, Dusseldorf, Germany. [Koskenvuo, Mikka; Taskinen, Mervi] Childrens Hosp Helsinki, Acad Med Ctr, Helsinki Campus, Helsinki, Finland. [Seppanen, Mikko] Univ Helsinki, Cent Hosp, Rare Dis Ctr, Helsinki, Finland. [Ehl, Stephan] Univ Freiburg, Med Ctr, Ctr Chron Immunodeficiency, Freiburg, Germany. [Jordan, Michael B.] Cincinnati Childrens Hosp Med Ctr, Div Bone Marrow Transplantat & Immune Deficiency, Cincinnati, OH 45229 USA. [Chambers, Eugene] DADA2 Fdn, Nashville, TN USA. [Chambers, Eugene] Vanderbilt Univ, Med Ctr, Nashville, TN USA. [Kastner, Daniel] NHGRI, NIH, Bethesda, MD 20892 USA. [Torgerson, Troy R.] Seattle Childrens Res Inst, Program Cell & Gene Therapy, Seattle, WA USA. [Torgerson, Troy R.] Seattle Childrens Res Inst, Ctr Immun & Immunotherapies, Seattle, WA USA. [Holland, Steven M.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Dalal, Jignesh] Case Western Reserve Univ, Rainbow Babies & Childrens Hosp, Cleveland, OH 44106 USA. Leiden Univ, Med Ctr, Dept Hematol & Immunol, Leiden, Netherlands. Duke Univ, Sch Med, Dept Biochem, Durham, NC 27706 USA. [Hershfield, Michael] Univ Hosp Leuven, Bone Marrow Transplant, Pediat Immunol Immunol & Microbiol, Leuven, Belgium. [Meyts, Isabelle] Rockefeller Univ, Human Genet Infect Dis Lab, Dept Pediat, 1230 York Ave, New York, NY 10021 USA. [Meyts, Isabelle] Katholieke Univ Leuven, New York, NY USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5359 BP 247 EP 248 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700132 ER PT J AU Sparks, R Lau, WW Tsang, JS AF Sparks, Rachel Lau, William W. Tsang, John S. CA OMiCC Jamboree Working Grp TI MASS MINING: A CROWDSOURCING APPROACH FOR META-ANALYZING GENE EXPRESSION SIGNATURES OF AUTOIMMUNITY USING LARGE-SCALE PUBLIC DATA SETS SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Sparks, Rachel; Lau, William W.; Tsang, John S.; OMiCC Jamboree Working Grp] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. FU Intramural Research Program of NIAID, NIH; Intramural Research Program of CIT, NIH FX Supported by the Intramural Research Programs of NIAID and CIT, NIH. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5366 BP 250 EP 250 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700138 ER PT J AU Harmon, G Morsheimer, M Grillo, JA Gordon, HB Powell-Hamilton, N LaRosa, CJ DeFelice, ML AF Harmon, Gretchen Morsheimer, Megan Grillo, Joseph A. Gordon, Hillary B. Powell-Hamilton, Nina LaRosa, Christopher J. DeFelice, Magee L. TI REPORT OF A NOVEL FOXP3 VARIANT ASSOCIATED WITH RENAL FAILURE AND IMMUNE DYSREGULATION SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Harmon, Gretchen; Grillo, Joseph A.; Gordon, Hillary B.; DeFelice, Magee L.] Nemours I duPont Hosp Children, Div Allergy & Immunol, Wilmington, DE USA. [Harmon, Gretchen; Grillo, Joseph A.; Gordon, Hillary B.; DeFelice, Magee L.] Thomas Jefferson Univ Hosp, Div Allergy & Immunol, Philadelphia, PA 19107 USA. [Morsheimer, Megan] NIAID, NIH, Rockville, MD USA. [Powell-Hamilton, Nina] Nemours AI duPont Hosp Children, Div Med Genet, Wilmington, DE USA. [LaRosa, Christopher J.] Nemours AI duPont Hosp Children, Div Nephrol, Wilmington, DE USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5385 BP 255 EP 255 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700149 ER PT J AU Soldatos, A DeRavin, SS Gorman, M Bielekova, B Jacobson, S Leibovitch, EC Werner, K Lebel, RR Notarangelo, LD AF Soldatos, Ariane DeRavin, Suk See Gorman, Mark Bielekova, Bibiana Jacobson, Steven Leibovitch, Emily C. Werner, Klaus Lebel, Robert R. Notarangelo, Luigi D. TI CEREBELLAR DEGENERATION IN A PATIENT WITH IPEX SYNDROME SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Soldatos, Ariane; Bielekova, Bibiana; Jacobson, Steven; Leibovitch, Emily C.] NINDS, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [DeRavin, Suk See; Lebel, Robert R.; Notarangelo, Luigi D.] NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Gorman, Mark] Boston Childrens Hosp, Boston, MA USA. [Werner, Klaus] Duke Univ, Durham, NC USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5392 BP 256 EP 256 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700153 ER PT J AU Jesus, AA Montealegre, G Freeman, H Martin, N Omoyinmi, E Calvo, KR Lee, CC Brundidge, A Kleiner, D Hewitt, S Chapelle, D Huang, Y Shah, N Brooks, S Meffre, E Brogan, P Kuehn, H Rosenzweig, SD Deng, ZM Moir, S Goldbach-Mansky, R Marrero, B AF Jesus, Adriana A. Montealegre, Gina Freeman, Helen Martin, Neil Omoyinmi, Ebun Calvo, Katherine R. Lee, Chyi-chia Brundidge, April Kleiner, David, Jr. Hewitt, Stephen Chapelle, Dawn Huang, Yan Shah, Nirali Brooks, Stephen Meffre, Eric Brogan, Paul Kuehn, Hyesun Rosenzweig, Sergio D. Deng, Zuoming Moir, Susan Goldbach-Mansky, Raphaela Marrero, Bernadette TI MUTATIONS IN THE TYROSINE-PROTEIN KINASE LYN CAUSE AN EARLY-ONSET NEUTROPHILIC VASCULITIS SYNDROME SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Jesus, Adriana A.; Montealegre, Gina; Huang, Yan; Goldbach-Mansky, Raphaela; Marrero, Bernadette] NIAID, Translat Autoinflammatory Dis Sect, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Freeman, Helen] Raigmore Hosp, Inverness, Scotland. [Martin, Neil] Royal Hosp Children, Glasgow, Lanark, Scotland. [Omoyinmi, Ebun] UCL, Inst Child Hlth, London, England. [Calvo, Katherine R.] NIH, Dept Lab Med, Hematol Serv, Bldg 10, Bethesda, MD 20892 USA. [Lee, Chyi-chia; Kleiner, David, Jr.; Hewitt, Stephen] NCI, Lab Pathol, NIH, Bethesda, MD 20892 USA. [Brundidge, April; Chapelle, Dawn; Brooks, Stephen; Deng, Zuoming] NIAMS, NIH, Bethesda, MD USA. [Shah, Nirali] NCI, Pediat Oncol Branch, NIH, Bethesda, MD 20892 USA. [Meffre, Eric] Yale Univ, Sch Med, Dept Immunobiol, New Haven, CT USA. [Brogan, Paul] Great Ormond St Hosp Children NHS Fdn Trust, London, England. [Kuehn, Hyesun; Rosenzweig, Sergio D.] NIH, Serv Immunol, Dept Lab Med, Bldg 10, Bethesda, MD 20892 USA. [Moir, Susan] NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5406 BP 261 EP 262 PG 2 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700165 ER PT J AU Agharahimi, A Shah, N Sun, AA Holland, SM Su, HC Hickstein, DD Heller, T Freeman, AF AF Agharahimi, Anahita Shah, Nirali Sun, Ashleigh A. Holland, Steven M. Su, Helen C. Hickstein, Dennis D. Heller, Theo Freeman, Alexandra F. TI LIVER ABNORMALITIES IN DOCK8 DEFICIENCY SO JOURNAL OF CLINICAL IMMUNOLOGY LA English DT Meeting Abstract CT CIS Annual Meeting on Immune Deficiency and Dysregulation North American CY MAR 23-26, 2017 CL Seattle, WA SP Clin Immunol Soc C1 [Agharahimi, Anahita] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Shah, Nirali] NCI, Pediat Oncol Branch, NIH, Bethesda, MD 20892 USA. [Sun, Ashleigh A.] NIH, Lab Clin Infect Dis, Bldg 10, Bethesda, MD 20892 USA. [Holland, Steven M.; Freeman, Alexandra F.] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Su, Helen C.] NIAID, Lab Host Def, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hickstein, Dennis D.] NCI, Expt Transplantat & Immunol Branch, Div Basic Sci, NIH, Bethesda, MD 20892 USA. [Heller, Theo] NIDDKD, Liver Dis Branch, Bethesda, MD USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0271-9142 EI 1573-2592 J9 J CLIN IMMUNOL JI J. Clin. Immunol. PD FEB PY 2017 VL 37 IS 2 MA 5407 BP 262 EP 262 PG 1 WC Immunology SC Immunology GA EO8FO UT WOS:000396924700166 ER PT J AU October, TW Wiener, L AF October, Tessie W. Wiener, Lori TI Courageous Conversations: Using Interactive Games to Discuss Goals of Care and Advance Care Planning with Adolescents and Their Families SO JOURNAL OF PAIN AND SYMPTOM MANAGEMENT LA English DT Meeting Abstract CT Annual Assembly of the American-Academy-of-Hospice-and-Palliative-Medicine and the Hospice-and-Palliative-Nurses-Association CY FEB 22-25, 2017 CL Phoenix, AZ SP Amer Acad Hospice & Palliat Med, Hosp & Palliat Nurses Assoc C1 [October, Tessie W.] Childrens Natl Hlth Syst, Washington, DC USA. [Wiener, Lori] NCI, Bethesda, MD 20892 USA. [Wiener, Lori] NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0885-3924 EI 1873-6513 J9 J PAIN SYMPTOM MANAG JI J. Pain Symptom Manage. PD FEB PY 2017 VL 53 IS 2 MA TH335 BP 331 EP 332 PG 2 WC Health Care Sciences & Services; Medicine, General & Internal; Clinical Neurology SC Health Care Sciences & Services; General & Internal Medicine; Neurosciences & Neurology GA EP1AR UT WOS:000397118300088 ER PT J AU Mehta, A Cheng, J Cohen-Berger, A Baker, K Wilks, S AF Mehta, Ambereen Cheng, Jennifer Cohen-Berger, Ann Baker, Karen Wilks, Steven TI A Quality Improvement Study Evaluating Nurses' Interest in Independently Initiating End-Of-Life Conversations and Palliative Care Consultations SO JOURNAL OF PAIN AND SYMPTOM MANAGEMENT LA English DT Meeting Abstract CT Annual Assembly of the American-Academy-of-Hospice-and-Palliative-Medicine and the Hospice-and-Palliative-Nurses-Association CY FEB 22-25, 2017 CL Phoenix, AZ SP Amer Acad Hospice & Palliat Med, Hosp & Palliat Nurses Assoc C1 [Mehta, Ambereen] Univ Virginia, Charlottesville, VA USA. [Cheng, Jennifer; Baker, Karen] NIH, Ctr Clin, Bethesda, MD 20892 USA. [Cohen-Berger, Ann] NIH, Bethesda, MD 20892 USA. [Wilks, Steven] Suburban Hosp Johns Hopkins Med, Bethesda, MD USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0885-3924 EI 1873-6513 J9 J PAIN SYMPTOM MANAG JI J. Pain Symptom Manage. PD FEB PY 2017 VL 53 IS 2 MA S791 BP 460 EP 461 PG 2 WC Health Care Sciences & Services; Medicine, General & Internal; Clinical Neurology SC Health Care Sciences & Services; General & Internal Medicine; Neurosciences & Neurology GA EP1AR UT WOS:000397118300323 ER PT J AU Sun, Y Sheshadri, N Zong, WX AF Sun, Yu Sheshadri, Namratha Zong, Wei-Xing TI SERPINB3 and B4: From biochemistry to biology SO SEMINARS IN CELL & DEVELOPMENTAL BIOLOGY LA English DT Review DE SERPINB3; SERPINB4; Squamous cell carcinoma antigen; SCCA1; SCCA2; Inflammation; Cancer ID SQUAMOUS-CELL CARCINOMA; UNFOLDED PROTEIN RESPONSE; EPITHELIAL-MESENCHYMAL TRANSITION; PSORIASIS-ASSOCIATED ANTIGEN; UTERINE CERVIX; CATHEPSIN-L; HEPATOCELLULAR-CARCINOMA; ATOPIC-DERMATITIS; TUMOR-ANTIGEN; REACTIVE-SITE AB Human SERPINB3 and SERPINB4 are evolutionary duplicated serine/cysteine protease inhibitors. Genomic analysis indicates that these paralogous genes were encoded from independent loci arising from tandem gene duplication. Although the two molecules share 92% identity of their amino acid sequences, they are distinct in the Reactive Center Loop (RCL) including a hinge region and catalytic sequences which accounts for altered substrate specificity. Elevated expression of the two molecules has been reported to contribute to numerous pathological conditions such as inflammatory diseases and cancer. In this review, we focus on summarizing the biochemical features of SERPINB3/B4 and discussing the mechanistic basis for their biological functions and implications in human diseases. (C) 2016 Published by Elsevier Ltd. C1 [Sun, Yu; Zong, Wei-Xing] Rutgers State Univ, Ernest Mario Sch Pharm, Dept Biol Chem, Piscataway, NJ 08854 USA. [Sheshadri, Namratha] NCI, Ctr Canc Res, Frederick, MD 21702 USA. [Zong, Wei-Xing] Rutgers Canc Inst New Jersey, New Brunswick, NJ 08903 USA. RP Zong, WX (reprint author), Rutgers State Univ, Ernest Mario Sch Pharm, Dept Biol Chem, Piscataway, NJ 08854 USA.; Zong, WX (reprint author), Rutgers Canc Inst New Jersey, New Brunswick, NJ 08903 USA. EM weixing.zong@pharmacy.rutgers.edu FU National Institute of Health (NIH) [RO1CM 29536, RO1GM97355] FX This work was supported by the National Institute of Health (NIH) RO1CM 29536 and RO1GM97355 to W.X. Z. NR 106 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD PI LONDON PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND SN 1084-9521 J9 SEMIN CELL DEV BIOL JI Semin. Cell Dev. Biol. PD FEB PY 2017 VL 62 BP 170 EP 177 DI 10.1016/j.semcdb.2016.09.005 PG 8 WC Cell Biology; Developmental Biology SC Cell Biology; Developmental Biology GA EM7PH UT WOS:000395504100018 PM 27637160 ER PT J AU Summers, RM AF Summers, Ronald M. TI Texture analysis in radiology: Does the emperor have no clothes? SO ABDOMINAL RADIOLOGY LA English DT Editorial Material DE Image processing; Segmentation; Computer-aided detection; Radiomics ID COMPUTER-AIDED DETECTION; FALSE-POSITIVE REDUCTION; CT COLONOGRAPHY; RADIOMICS FEATURES; IMAGING FEATURES; PROSTATE-CANCER; CELL CARCINOMA; BREAST MASSES; IMAGES; MAMMOGRAMS AB Texture analysis is more and more frequently used in radiology research. Is this a new technology, and if not, what has changed? Is texture analysis the great diagnostic and prognostic tool we have been searching for in radiology? This commentary answers these questions and places texture analysis into its proper perspective. C1 [Summers, Ronald M.] NIH, Ctr Clin, Imaging Biomarkers & Comp Aided Diag Lab, Radiol & Imaging Sci, Bldg 10,Room 1C224D MSC 1182, Bethesda, MD 20892 USA. RP Summers, RM (reprint author), NIH, Ctr Clin, Imaging Biomarkers & Comp Aided Diag Lab, Radiol & Imaging Sci, Bldg 10,Room 1C224D MSC 1182, Bethesda, MD 20892 USA. EM rms@nih.gov FU Intramural Research Program of the National Institutes of Health, Clinical Center FX This study was funded by the Intramural Research Program of the National Institutes of Health, Clinical Center. NR 43 TC 0 Z9 0 U1 3 U2 3 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 2366-004X EI 2366-0058 J9 ABDOM RADIOL JI Abdom. Radiol. PD FEB PY 2017 VL 42 IS 2 BP 342 EP 345 DI 10.1007/s00261-016-0950-1 PG 4 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA EM1ND UT WOS:000395083400001 PM 27770161 ER PT J AU Verma, S Rosenkrantz, AB Choyke, P Eberhardt, SC Eggener, SE Gaitonde, K Haider, M Margolis, DJ Marks, L Pinto, P Sonn, GA Taneja, SS AF Verma, Sadhna Rosenkrantz, Andrew B. Choyke, Peter Eberhardt, Steven C. Eggener, Scott E. Gaitonde, Krishnanath Haider, Masoom A. Margolis, Daniel J. Marks, Leonard S. Pinto, Peter Sonn, Geoffrey A. Taneja, Samir S. TI Commentary regarding a recent collaborative consensus statement addressing prostate MRI and MRI-targeted biopsy in patients with a prior negative prostate biopsy SO ABDOMINAL RADIOLOGY LA English DT Editorial Material ID MULTIPARAMETRIC MAGNETIC-RESONANCE; ULTRASOUND-GUIDED BIOPSY; FUSION BIOPSY; CANCER; GUIDELINES; ANTIGEN; MEN C1 [Verma, Sadhna] Univ Cincinnati, Coll Med, Dept Radiol, 234 Goodman St,POB 670761, Cincinnati, OH 45267 USA. [Rosenkrantz, Andrew B.] NYU Langone Med Ctr, Dept Radiol, New York, NY USA. [Choyke, Peter] NCI, Mol Imaging Program, NIH, Bethesda, MD 20892 USA. [Eberhardt, Steven C.] Univ New Mexico, Dept Radiol, Albuquerque, NM USA. [Eggener, Scott E.] Univ Chicago Med, Dept Urol, Chicago, IL USA. [Gaitonde, Krishnanath] Univ Cincinnati, Coll Med, Dept Urol, Cincinnati, OH USA. [Haider, Masoom A.] Univ Toronto, Sunnybrook Hlth Sci Ctr, Dept Med Imaging, Toronto, ON, Canada. [Margolis, Daniel J.] Cornell Univ, Dept Radiol, Weill Cornell Med, Ithaca, NY USA. [Marks, Leonard S.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Urol, Los Angeles, CA 90095 USA. [Pinto, Peter] NCI, Urol Oncol Branch, Bethesda, MD USA. [Pinto, Peter] NIH, Ctr Clin, Bethesda, MD USA. [Sonn, Geoffrey A.] Stanford Univ, Sch Med, Dept Urol, Stanford, CA 94305 USA. [Taneja, Samir S.] NYU Langone Med Ctr, Dept Urol Oncol, New York, NY USA. RP Verma, S (reprint author), Univ Cincinnati, Coll Med, Dept Radiol, 234 Goodman St,POB 670761, Cincinnati, OH 45267 USA. EM vermasm@ucmail.uc.edu NR 26 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 2366-004X EI 2366-0058 J9 ABDOM RADIOL JI Abdom. Radiol. PD FEB PY 2017 VL 42 IS 2 BP 346 EP 349 DI 10.1007/s00261-016-0920-7 PG 4 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA EM1ND UT WOS:000395083400002 PM 27670878 ER PT J AU Connelly, CM Boer, RE Moon, MH Gareiss, P Schneekloth, JS AF Connelly, Colleen M. Boer, Robert E. Moon, Michelle H. Gareiss, Peter Schneekloth, John S., Jr. TI Discovery of Inhibitors of MicroRNA-21 Processing Using Small Molecule Microarrays SO ACS CHEMICAL BIOLOGY LA English DT Article ID MIR-21 FUNCTION; TARGETING RNA; CANCER; LIGAND; GROWTH; SUPPRESSES; PRECURSOR; PLATFORM; LOOP AB The identification of small molecules that bind to and perturb the function of microRNAs is an attractive approach for the treatment for microRNA-associated pathologies. However, there are only a few small molecules known to interact directly with microRNAs. Here, we report the use of a small molecule microarray (SMM) screening approach to identify low molecular weight compounds that directly bind to a pre-miR-21 hairpin. Compounds identified using this approach exhibit good affinity for the RNA (ranging from 0.8-2.0 mu M) and are not composed of a polycationic scaffold. Several of the highest affinity compounds inhibit Dicer-mediated processing, while in-line probing experiments indicate that the compounds bind to the apical loop of the hairpin, proximal to the Dicer site. This work provides evidence that small molecules can be developed to bind directly to and inhibit miR-21. C1 [Connelly, Colleen M.; Boer, Robert E.; Moon, Michelle H.; Schneekloth, John S., Jr.] NCI, Biol Chem Lab, Frederick, MD 21702 USA. [Gareiss, Peter] Yale Ctr Mol Discovery, West Haven, CT 06516 USA. RP Schneekloth, JS (reprint author), NCI, Biol Chem Lab, Frederick, MD 21702 USA. EM schneeklothjs@mail.nih.gov FU Intramural Research Program of the National Institutes of Health, Center for Cancer Research; National Cancer Institute (NCI), National Institutes of Health [1 ZIA BC011585 03]; Yale University FX This work was supported by the Intramural Research Program of the National Institutes of Health, Center for Cancer Research, the National Cancer Institute (NCI), National Institutes of Health (1 ZIA BC011585 03), and Yale University. We thank Dr. Stuart Le Grice for use of the Typhoon gel imager. We thank Drs. Jim Kelley and Christopher Lai for assistance in collecting high resolution mass spectral data. NR 40 TC 0 Z9 0 U1 0 U2 0 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1554-8929 EI 1554-8937 J9 ACS CHEM BIOL JI ACS Chem. Biol. PD FEB PY 2017 VL 12 IS 2 BP 435 EP 443 DI 10.1021/acschembio.6b00945 PG 9 WC Biochemistry & Molecular Biology SC Biochemistry & Molecular Biology GA EL6MM UT WOS:000394736700017 PM 27959491 ER PT J AU Solis, E Bola, RA Fasulo, BJ Kiyatkin, EA AF Solis, Ernesto, Jr. Bola, R. Aaron Fasulo, Bradley J. Kiyatkin, Eugene A. TI Brain Hyperglycemia Induced by Heroin: Association. with Metabolic Neural Activation SO ACS CHEMICAL NEUROSCIENCE LA English DT Article DE Opiate drugs; glucose; brain temperature; vasoconstriction; nucleus accumbens; rats ID NUCLEUS-ACCUMBENS; EXTRACELLULAR GLUCOSE; INTRAVENOUS COCAINE; BLOOD-FLOW; PHYSIOLOGICAL FLUCTUATIONS; DEPENDENT CHANGES; NEURONAL-ACTIVITY; RAPID CHANGES; RAT-BRAIN; MICRODIALYSIS AB Glucose enters the brain extracellular space from arterial blood, and its proper delivery is essential for metabolic activity of brain cells. By using enzyme-based biosensors coupled with high-speed amperometry in freely moving rats, we previously showed that glucose levels in the nucleus accumbens (NAc) display high variability, increasing rapidly following exposure to various arousing stimuli. In this study, the same technology was used to assess NAc glucose fluctuations induced by intravenous heroin. Heroin passively injected at a low dose optimal for maintaining self-administration behavior (100 mu g/kg) induces a rapid but moderate glucose rise (similar to 150-200 mu M or similar to 15-25% over resting baseline). When the heroin dose was doubled and tripled, the increase became progressively larger in magnitude and longer in duration. Heroin-induced glucose increases also occurred in other brain structures (medial thalamus, lateral striatum, hippocampus), suggesting that brain hyperglycemia is a whole-brain phenomenon but changes were notably distinct in each structure. While local vasodilation appears to be the possible mechanism underlying the rapid rise in extracellular glucose levels, the driving factor for this vasodilation (central vs peripheral) remains to be clarified. The heroin-induced NAc glucose increases positively correlated with increases in intracerebral heat production determined in separate experiments using multisite temperature recordings (NAc, temporal muscle and skin). However, glucose levels rise very rapidly, preceding much slower increases in brain heat production, a measure of metabolic activation associated with glucose consumption. C1 [Solis, Ernesto, Jr.; Bola, R. Aaron; Fasulo, Bradley J.; Kiyatkin, Eugene A.] Natl Inst Hlth, Natl Inst Drug Abuse, In Vivo Elect Unit, Behav Neurosci Branch,Intramural Res Program,DHHS, 333 Cassell Dr, Baltimore, MD 21224 USA. RP Kiyatkin, EA (reprint author), Natl Inst Hlth, Natl Inst Drug Abuse, In Vivo Elect Unit, Behav Neurosci Branch,Intramural Res Program,DHHS, 333 Cassell Dr, Baltimore, MD 21224 USA. EM ekiyatki@intra.nida.nih.gov FU Intramural Research Program of the NIH, NIDA [1ZIADA000445-13] FX This research was supported by the Intramural Research Program of the NIH, NIDA (Project 1ZIADA000445-13 NR 36 TC 0 Z9 0 U1 0 U2 0 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1948-7193 J9 ACS CHEM NEUROSCI JI ACS Chem. Neurosci. PD FEB PY 2017 VL 8 IS 2 SI SI BP 265 EP 271 DI 10.1021/acschemneuro.6b00246 PG 7 WC Biochemistry & Molecular Biology; Chemistry, Medicinal; Neurosciences SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy; Neurosciences & Neurology GA EL2XH UT WOS:000394483300008 PM 27736094 ER PT J AU Giraldo, JA Molano, RD Rengifo, HR Fotino, C Gattas-Asfura, KM Pileggi, A Stabler, CL AF Giraldo, Jaime A. Molano, R. Damaris Rengifo, Hernan R. Fotino, Carmen Gattas-Asfura, Kerim M. Pileggi, Antonello Stabler, Cherie L. TI The impact of cell surface PEGylation and short-course immunotherapy on islet graft survival in an allogeneic murine model SO ACTA BIOMATERIALIA LA English DT Article DE Polymer grafting; Encapsulation; Local immunomodulation; Poly(ethylene glycol) (PEG); Anti-Lymphocyte Function-associated; Antigen 1 (LFA-1); Inflammation ID LONG-TERM SURVIVAL; MEDIATED INFLAMMATORY REACTION; REGULATORY T-CELLS; QUALITY-OF-LIFE; ALLOGRAFT SURVIVAL; POLYETHYLENE-GLYCOL; PANCREATIC-ISLETS; METHOXYPOLY(ETHYLENE GLYCOL); MACROPHAGE POLARIZATION; TRANSPLANTED ISLETS AB Islet transplantation is a promising therapy for Type 1 diabetes mellitus; however, host inflammatory and immune responses lead to islet dysfunction and destruction, despite potent systemic immunosuppression. Grafting of poly(ethylene glycol) (PEG) to the periphery of cells or tissues can mitigate inflammation and immune recognition via generation of a steric barrier. Herein, we sought to evaluate the complementary impact of islet PEGylation with a short-course immunotherapy on the survival of fully-MHC mismatched islet allografts (DBA/2 islets into diabetic C57BL/6J recipients). Anti-Lymphocyte Function associated Antigen 1 (LFA-1) antibody was selected as a complementary, transient, systemic immune monotherapy. Islets were PEGylated via an optimized protocol, with resulting islets exhibiting robust cell viability and function. Following transplantation, a significant subset of diabetic animals receiving PEGylated islets (60%) or anti-LFA-1 antibody (50%) exhibited long-term (>100 d) normoglycemia. The combinatorial approach proved synergistic, with 78% of the grafts exhibiting euglycemia long-term. Additional studies examining graft cellular infiltrates at early time points characterized the local impact of the transplant protocol on graft survival. Results illustrate the capacity of a simple polymer grafting approach to impart significant immunoprotective effects via modulation of the local transplant environment, while short-term immunotherapy serves to complement this effect. Statement of Significance We believe this study is important and of interest to the biomaterials and transplant community for several reasons: 1) it provides an optimized protocol for the PEGylation of islets, with minimal impact on the coated islets, which can be easily translated for clinical applications; 2) this optimized protocol demonstrates the benefits of islet PEGylation in providing modest immunosuppression in a murine model; 3) this work demonstrates the combinatory impact of PEGylation with short-course immunotherapy (via LFA-1 blockage), illustrating the capacity of PEGylation to complement existing immunotherapy; and 4) it suggests macrophage phenotype shifting as the potential mechanism for this observed benefit. (C) 2016 Acta Materialia Inc. Published by Elsevier Ltd. All rights reserved. C1 [Giraldo, Jaime A.; Molano, R. Damaris; Rengifo, Hernan R.; Fotino, Carmen; Gattas-Asfura, Kerim M.; Pileggi, Antonello; Stabler, Cherie L.] Univ Miami, Diabet Res Inst, Miami, FL USA. [Giraldo, Jaime A.; Pileggi, Antonello; Stabler, Cherie L.] Univ Miami, Dept Biomed Engn, Miami, FL USA. [Molano, R. Damaris; Pileggi, Antonello; Stabler, Cherie L.] Univ Miami, Dept Surg, Miami, FL USA. [Pileggi, Antonello; Stabler, Cherie L.] Univ Miami, Dept Microbiol & Immunol, Miami, FL USA. [Gattas-Asfura, Kerim M.; Stabler, Cherie L.] Univ Florida, Dept Biomed, Gainesville, FL 32611 USA. [Giraldo, Jaime A.] JDRF, New York, NY USA. [Pileggi, Antonello] NIH, Ctr Sci Review, Bldg 10, Bethesda, MD 20892 USA. RP Stabler, CL (reprint author), Univ Florida, Dept Biomed, Gainesville, FL 32611 USA. EM cstabler@bme.ufl.edu RI Stabler, Cherie/E-8227-2011 FU National Institutes of Health [1DP2 DK08309601, R01 DK100654]; Diabetes Research Institute Foundation; NIH Postdoctoral Supplement [1DP2 DK08309601-02/03] FX This work was supported by the National Institutes of Health (1DP2 DK08309601 and R01 DK100654) and the Diabetes Research Institute Foundation. Dr. Rengifo was supported by an NIH Postdoctoral Supplement (1DP2 DK08309601-02/03). We thank the DRI Preclinical and Translational Models Core for providing the rodent islets used for this study and for the care, maintenance, and transplantation of the islets and animals for in vivo assessment. We thank Kevin Johnson in the DRI Histological Core for his histological prowess and training. We thank Nicholas Abuid for collection of a subset of the PEGylated islet confocal images. We thank the DRI Analytical Imaging and Histology Cores for use of their facilities. NR 78 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1742-7061 EI 1878-7568 J9 ACTA BIOMATER JI Acta Biomater. PD FEB PY 2017 VL 49 BP 272 EP 283 DI 10.1016/j.actbio.2016.11.060 PG 12 WC Engineering, Biomedical; Materials Science, Biomaterials SC Engineering; Materials Science GA EK6UU UT WOS:000394062100021 PM 27915019 ER PT J AU Burns, RA Danehy, PM Halls, BR Jiang, NB AF Burns, Ross A. Danehy, Paul M. Halls, Benjamin R. Jiang, Naibo TI Femtosecond Laser Electronic Excitation Tagging Velocimetry in a Transonic, Cryogenic Wind Tunnel SO AIAA JOURNAL LA English DT Article; Proceedings Paper CT 31st AIAA Aerodynamic Measurement Technology and Ground Testing Conference CY JUN 22-26, 2015 CL Dallas, TX SP AIAA C1 [Burns, Ross A.] NASA, Langley Res Ctr, NIA, Hampton, VA 23681 USA. [Danehy, Paul M.] NASA, Langley Res Ctr, Adv Measurements & Data Syst Branch, Hampton, VA 23681 USA. [Halls, Benjamin R.; Jiang, Naibo] Spectral Energies LLC, Dayton, OH 45431 USA. [Halls, Benjamin R.] US Air Force, Res Lab, Aerosp Syst Directorate, Wright Patterson AFB, OH 45433 USA. RP Burns, RA (reprint author), NASA, Langley Res Ctr, NIA, Hampton, VA 23681 USA. FU NASA Internal Research and Development Program; NASA Small Business Innovation Research Program [NNX14CL74P] FX This work was funded by the NASA Internal Research and Development Program, with Marty Waszak as Program Manager; and the NASA Small Business Innovation Research Program (contract number NNX14CL74P). The authors would like to thank the facility operations team at the 0.3 m transonic cryogenic tunnel facility, including Wes Goodman, Mike Chambers, Karl Maddox, and Cliff Obara, among others. Their contributions allowed these experiments to be conducted efficiently, and they were a pleasure to work alongside for the duration of these tests. Additionally, Stephen Jones was an invaluable part of the team in the construction and implementation of the testing apparatus. Finally, the contributions and moral support of Michael Button from the George Washington University, Brett Bathel and Jennifer Inman from NASA Langley Research Center, and Sukesh Roy from Spectral Energies, LLC were greatly appreciated. NR 14 TC 0 Z9 0 U1 0 U2 0 PU AMER INST AERONAUTICS ASTRONAUTICS PI RESTON PA 1801 ALEXANDER BELL DRIVE, STE 500, RESTON, VA 22091-4344 USA SN 0001-1452 EI 1533-385X J9 AIAA J JI AIAA J. PD FEB PY 2017 VL 55 IS 2 BP 680 EP 685 DI 10.2514/1.J055325 PG 6 WC Engineering, Aerospace SC Engineering GA EM8IR UT WOS:000395555300029 ER PT J AU Lowe, KM Young, WF Lyssikatos, C Stratakis, CA Carney, JA AF Lowe, Kathleen M. Young, William F., Jr. Lyssikatos, Charalampos Stratakis, Constantine A. Carney, J. Aidan TI Cushing Syndrome in Carney Complex Clinical, Pathologic, and Molecular Genetic Findings in the 17 Affected Mayo Clinic Patients SO AMERICAN JOURNAL OF SURGICAL PATHOLOGY LA English DT Article DE adrenal; Carney complex; Cushing syndrome; genetics; pathology ID NODULAR ADRENOCORTICAL DISEASE; ADRENAL-HYPERPLASIA; ENDOCRINE OVERACTIVITY; SPOTTY PIGMENTATION; MUTATIONS; MYXOMAS; TUMOR; PHOSPHODIESTERASE; PATIENT; PROTEIN AB Carney complex (CNC) is a rare dominantly inherited multiorgan tumoral disorder that includes Cushing syndrome (CS). To establish the Mayo Clinic experience with the CS component, including its clinical, laboratory, and pathologic findings, we performed a retrospective search of the patient and pathologic databases of Mayo Clinic in Rochester, MN, for patients with CNC and clinical or laboratory findings of CS. Thirty-seven patients with CNC were identified. Twenty-nine had clinical, pathologic, or laboratory evidence of an adrenocortical disorder. Seventeen had classic CS; 15 underwent bilateral, subtotal, or partial unilateral adrenalectomy, and 2 had no treatment. Pathologically, the glands were normal sized or slightly enlarged with multiple small (1 to 4 mm), brown, black, and yellow micronodules (primary pigmented nodular adrenocortical disease; PPNAD). Three glands each had a mass: a 2 cm adenoma, a 1.5 cm macronodule, and an unencapsulated 1.8 cm myelolipoma. Fourteen of the patients were alive at follow-up, and 3 were deceased; 2 of the latter had PPNAD at autopsy, and the third had PPNAD at surgery. Twelve patients without clinical features of classic CS had abnormal adrenocortical testing results; none developed classic CS during follow-up (mean, 10 y). Autopsy findings in 1 showed bilateral vacuolated cell cortical hyperplasia. C1 [Lowe, Kathleen M.] Mayo Clin, Dept Internal Med, Rochester, MN USA. [Young, William F., Jr.] Mayo Clin, Div Endocrinol Diabet Metab & Nutr, Rochester, MN USA. [Carney, J. Aidan] Mayo Clin, Dept Lab Med & Pathol, 200 First St,SW, Rochester, MN 55905 USA. [Lyssikatos, Charalampos; Stratakis, Constantine A.] NICHHD, Sect Endocrinol & Genet, NIH, Bethesda, MD 20892 USA. RP Carney, JA (reprint author), Mayo Clin, Dept Lab Med & Pathol, 200 First St,SW, Rochester, MN 55905 USA. EM carney.aidan@mayo.edu FU National Institutes of Health [Z01HD008920] FX Supported in part with funds from the National Institutes of Health under Z01HD008920. The authors have disclosed that they have no significant relationships with, or financial interest in, any commercial companies pertaining to this article. NR 27 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0147-5185 EI 1532-0979 J9 AM J SURG PATHOL JI Am. J. Surg. Pathol. PD FEB PY 2017 VL 41 IS 2 BP 171 EP 181 PG 11 WC Pathology; Surgery SC Pathology; Surgery GA EL2LS UT WOS:000394451800004 PM 27875378 ER PT J AU Groveman, BR Orru, CD Hughson, AG Bongianni, M Fiorini, M Imperiale, D Ladogana, A Pocchiari, M Zanusso, G Caughey, B AF Groveman, Bradley R. Orru, Christina D. Hughson, Andrew G. Bongianni, Matilde Fiorini, Michele Imperiale, Daniele Ladogana, Anna Pocchiari, Maurizio Zanusso, Gianluigi Caughey, Byron TI Extended and direct evaluation of RT-QuIC assays for Creutzfeldt-Jakob disease diagnosis SO ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY LA English DT Article ID QUAKING-INDUCED CONVERSION; BOVINE SPONGIFORM ENCEPHALOPATHY; NASAL BRUSHINGS; PRION DETECTION; DISCRIMINATION AB Real-Time Quaking-Induced Conversion (RT-QuIC) testing of human cerebrospinal fluid (CSF) is highly sensitive and specific in discriminating sporadic CJD patients from those without prion disease. Here, using CSF samples from 113 CJD and 64 non-prion disease patients, we provide the first direct and concurrent comparison of our improved RT-QuIC assay to our previous assay, which is similar to those commonly used internationally for CJD diagnosis. This extended comparison demonstrated a similar to 21% increase in diagnostic sensitivity, a 2-day reduction in average detection time, and 100% specificity. C1 [Groveman, Bradley R.; Orru, Christina D.; Hughson, Andrew G.; Caughey, Byron] NIAID, Persistent Viral Dis Lab, Rocky Mt Labs, NIH, Hamilton, MT 59840 USA. [Bongianni, Matilde; Fiorini, Michele; Zanusso, Gianluigi] Univ Verona, Dept Neurol & Movement Sci, Verona, Italy. [Imperiale, Daniele] Osped Maria Vittoria, Neurol Unit, Turin, Italy. [Ladogana, Anna; Pocchiari, Maurizio] Ist Super Sanita, Dept Cell Biol & Neurosci, Rome, Italy. RP Groveman, BR; Orru, CD (reprint author), NIAID, Persistent Viral Dis Lab, Rocky Mt Labs, NIH, Hamilton, MT 59840 USA. EM Bradley.groveman@nih.gov; christina.orru@nih.gov FU NIAID; Alliance Biosecure Foundation [FABS201502] FX This work was supported by the Intramural Research Program of the NIAID and in part by the Alliance Biosecure Foundation (FABS201502). NR 20 TC 0 Z9 0 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2328-9503 J9 ANN CLIN TRANSL NEUR JI Ann. Clin. Transl. Neurol. PD FEB PY 2017 VL 4 IS 2 BP 139 EP 144 DI 10.1002/acn3.378 PG 6 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EO9ND UT WOS:000397014500007 PM 28168213 ER PT J AU Wehby, GL Uribe, LMM Wilcox, AJ Christensen, K Romitti, PA Munger, RG Lie, RT AF Wehby, George L. Uribe, Lina M. Moreno Wilcox, Allen J. Christensen, Kaare Romitti, Paul A. Munger, Ronald G. Lie, Rolv T. TI Interaction between smoking and body mass index and risk of oral clefts SO ANNALS OF EPIDEMIOLOGY LA English DT Article DE Cleft lip; Cleft palate; Smoking; Obesity; Body weight; Body mass index ID BIRTH-DEFECTS; OBESITY; CANCER; COHORT; WOMEN AB Purpose: To examine maternal smoking and body mass index (BMI) interactions in contributing to risk of oral clefts. Methods: We studied 4935 cases and 10,557 controls from six population-based studies and estimated a pooled logistic regression of individual-level data, controlling for study fixed effects and individual-level risk factors. Results: We found a significant negative smoking BMI interaction, with cleft risk with smoking generally declining with higher BMI. For all clefts combined, the odds ratio for smoking was 1.61 (95% confidence interval [CI]: 139-1.86) at BMI 17 (underweight), 1.47 (95% CI: 134-1.62) at BMI 22 (normal weight), 1.35 (95% CI: 1.22-1.48) at BMI 27 (overweight), 1.21 (95% CI: 1.04-1.41) at BMI 33 (obese), and 1.13 (95% CI: 0.92-138) at BMI 37 (very obese). A negative interaction was also observed for isolated clefts and across cleft types but was more pronounced for cleft lip only and cleft palate only. Conclusions: Our findings suggest that the risk of oral clefts associated with maternal smoking is largest among underweight mothers, although the smoking BMI interaction is strongest for cleft lip only and cleft palate only. BMI was not protective for the effects of smoking; a clinically relevant increase in smoking-related cleft risk was still present among heavier women. (C) 2016 Elsevier Inc. All rights reserved. C1 [Wehby, George L.] Univ Iowa, Dept Hlth Management & Policy, Iowa City, IA 52246 USA. [Wehby, George L.] Univ Iowa, Dept Econ, Iowa City, IA 52242 USA. [Wehby, George L.] Univ Iowa, Dept Prevent & Community Dent, Iowa City, IA USA. [Wehby, George L.] Univ Iowa, Publ Policy Ctr, Iowa City, IA USA. [Uribe, Lina M. Moreno] Univ Iowa, Coll Dent, Dept Orthodont, Iowa City, IA 52242 USA. [Wilcox, Allen J.] NIEHS, NIH, Epidemiol Branch, Durham, NC USA. [Christensen, Kaare] Univ Southern Denmark, Dept Epidemiol, Odense, Denmark. [Romitti, Paul A.] Univ Iowa, Coll Publ Hlth, Dept Epidemiol, Iowa City, IA USA. [Munger, Ronald G.] Utah State Univ, Ctr Epidemiol Studies, Logan, UT 84322 USA. [Munger, Ronald G.] Utah State Univ, Dept Nutr Dietet & Food Sci, Logan, UT 84322 USA. [Lie, Rolv T.] Univ Bergen, Dept Global Publ Hlth & Primary Care, Bergen, Norway. RP Wehby, GL (reprint author), Univ Iowa, Dept Hlth Management & Policy, Iowa City, IA 52246 USA. EM george-wehby@uiowa.edu FU National Institute of Dental and Craniofacial Research at the National Institutes of Health [1 R01 DE020895]; Intramural Research Program of the NIH, National Institute of Environmental Health Sciences FX This work was supported by the National Institute of Dental and Craniofacial Research at the National Institutes of Health (grant 1 R01 DE020895). The study was also supported in part by the Intramural Research Program of the NIH, National Institute of Environmental Health Sciences. The authors are grateful to the Data Sharing Committee of the National Birth Defects Prevention Study for comments on earlier drafts of this article. NR 22 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1047-2797 EI 1873-2585 J9 ANN EPIDEMIOL JI Ann. Epidemiol. PD FEB PY 2017 VL 27 IS 2 BP 103 EP 107 DI 10.1016/j.annepidem.2016.11.009 PG 5 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EL6KF UT WOS:000394730500005 PM 28202134 ER PT J AU Luo, M Tan, Z Dai, MY Song, DJ Lin, J Xie, MZ Yang, JL Sun, L Wei, DM Zhao, JS Gonzalez, FJ Liu, AM AF Luo, Min Tan, Zhen Dai, Manyun Song, Danjun Lin, Jiao Xie, Minzhu Yang, Julin Sun, Lu Wei, Dengming Zhao, Jinshun Gonzalez, Frank J. Liu, Aiming TI Dual action of peroxisome proliferator-activated receptor alpha in perfluorodecanoic acid-induced hepatotoxicity SO ARCHIVES OF TOXICOLOGY LA English DT Article DE Perfluorodecanoic acid; PPARa; Hepatotoxicity ID MICROSOMAL-ENZYME INDUCERS; CARBON-CHAIN LENGTH; PPAR-ALPHA; BILE-ACID; PERFLUOROCARBOXYLIC ACIDS; PERFLUOROOCTANOIC-ACID; KAPPA-B; LIVER; MICE; EXPRESSION AB Perfluorodecanoic acid (PFDA) is widely used in production of many daily necessities based on their surface properties and stability. It was assigned as a Persistent Organic Pollutant in 2009 and became a public concern partly because of its potential for activation of the peroxisome proliferator-activated receptor alpha (PPAR alpha). In this study, wild-type and Ppara-null mice were administered PFDA (80 mg/kg). Blood and liver tissues were collected and subjected to systemic toxicological and mechanistic analysis. UPLC-ESI-QTOFMS-based metabolomics was used to explore the contributing components of the serum metabolome that led to variation between wild-type and Ppar alpha-null mice. Bile acid homeostasis was disrupted, and slight hepatocyte injury in wild-type mice accompanied by adaptive regulation of bile acid synthesis and transport was observed. The serum metabolome in wild-type clustered differently from that in Ppar alpha-null, featured by sharp increases in bile acid components. Differential toxicokinetic tendency was supported by regulation of UDP-glucuronosyltransferases dependent on PPAR alpha, but it did not contribute to the hepatotoxic responses. Increase in Il-10 and activation of the JNK pathway indicated inflammation was induced by disruption of bile acid homeostasis in wild-type mice. Inhibition of p-p65 dependent on PPAR alpha activation by PFDA stopped the inflammatory cascade, as indicated by negative response of Il-6, Tnf-alpha, and STAT3 signaling. These data suggest disruptive and protective role of PPAR alpha in hepatic responses induced by PFDA. C1 [Luo, Min; Tan, Zhen; Dai, Manyun; Song, Danjun; Lin, Jiao; Xie, Minzhu; Wei, Dengming; Zhao, Jinshun; Liu, Aiming] Ningbo Univ, Sch Med, Ningbo 315211, Zhejiang, Peoples R China. [Yang, Julin] Ningbo Coll Hlth Sci, Ningbo 315100, Zhejiang, Peoples R China. [Sun, Lu] Shenyang Pharmaceut Univ, Shenyang 110016, Peoples R China. [Gonzalez, Frank J.] NCI, Lab Metab, NIH, Bethesda, MD 20892 USA. RP Liu, AM (reprint author), Ningbo Univ, Sch Med, Ningbo 315211, Zhejiang, Peoples R China. EM liuaiming@nbu.edu.cn FU National Natural Science Foundation of China [81273582, 81302848]; Public Projects of Zhejiang Province [2015C37110, 2015R405055]; K.C. Wong Magna Fund in Ningbo University; National Cancer Institute Intramural Research Program FX This work was supported by National Natural Science Foundation of China [Grant 81273582, 81302848], Public Projects of Zhejiang Province (2015C37110, 2015R405055), K.C. Wong Magna Fund in Ningbo University and the National Cancer Institute Intramural Research Program. NR 32 TC 0 Z9 0 U1 1 U2 1 PU SPRINGER HEIDELBERG PI HEIDELBERG PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY SN 0340-5761 EI 1432-0738 J9 ARCH TOXICOL JI Arch. Toxicol. PD FEB PY 2017 VL 91 IS 2 BP 897 EP 907 DI 10.1007/s00204-016-1779-7 PG 11 WC Toxicology SC Toxicology GA EK8NL UT WOS:000394180500024 PM 27344344 ER PT J AU Rapson, IR Michos, ED Alonso, A Hirsch, AT Matsushita, K Reis, JP Lutsey, PL AF Rapson, Ian R. Michos, Erin D. Alonso, Alvaro Hirsch, Alan T. Matsushita, Kunihiro Reis, Jared P. Lutsey, Pamela L. TI Serum 25-hydroxyvitamin D is associated with incident peripheral artery disease among white and black adults in the ARIC study cohort SO ATHEROSCLEROSIS LA English DT Article DE Vitamin D; Peripheral arterial disease; ARIC; Cohort study; Race; Epidemiology ID VITAMIN-D SUPPLEMENTATION; NUTRITION EXAMINATION SURVEY; PROTEIN GENE POLYMORPHISMS; CORONARY-HEART-DISEASE; CARDIOVASCULAR-DISEASE; ATHEROSCLEROSIS RISK; PARATHYROID-HORMONE; D DEFICIENCY; RACIAL-DIFFERENCES; NATIONAL-HEALTH AB Background and aims: Low 25-hydroxyvitamin D [25(OH)D] concentrations have been associated with peripheral artery disease (PAD). Prevalence of low 25(OH)D and PAD differ between whites and blacks. However, these associations have not been studied prospectively or in a population based cohort. We tested the hypothesis that low 25(OH)D is associated with greater risk of incident PAD in white and black adults. Methods: 25(OH)D was measured in serum collected at ARIC visit 2 (1990-1992). We followed 11,789 ARIC participants free of PAD at visit 2 through 2011 for incident PAD events. 25(OH)D (ng/mL) was categorized as deficient (<20), insufficient (20 to <30) or sufficient (>= 30). PAD was defined by an ankle brachial index (ABI) of <0.9 at ARIC visits 3 or 4 or a hospital diagnosis with an ICD-9 code indicating PAD during follow-up. Analysis used multivariable-adjusted Cox proportional hazards regressions. Results: Over a mean follow-up of 17.1 years, 1250 incident PAD events were identified. 22% of whites and 61% of blacks were 25(OH)D deficient. After adjustment for demographic characteristics, the hazard ratio (95% CI) of PAD in participants with deficient versus sufficient 25(OH)D was 1.49 (1.26, 1.76). Inclusion of BMI, physical activity, and smoking status attenuated the association [1.25 (1.06, 1.48)]. The association between 25(OH)D and PAD was qualitatively stronger in blacks (p for interaction = 0.20). Conclusions: Deficient 25(OH)D was associated with increased risk of PAD in black and white participants. Whether treatment of low vitamin D through supplementation or modest sunlight exposure prevents PAD is unknown. (C) 2017 Elsevier B.V. All rights reserved. C1 [Rapson, Ian R.; Hirsch, Alan T.; Lutsey, Pamela L.] Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, 1300 South 2nd St, Minneapolis, MN 55454 USA. [Michos, Erin D.; Matsushita, Kunihiro] Johns Hopkins Bloomberg, Sch Publ Hlth, Dept Epidemiol, Welch Ctr Prevent Epidemiol, Baltimore, MD USA. [Alonso, Alvaro] Emory Univ, Rollins Sch Publ Hlth, Dept Epidemiol, Atlanta, GA 30322 USA. [Reis, Jared P.] Natl Heart Lung & Blood Inst, Div Cardiovasc Sci, Bethesda, MD USA. RP Rapson, IR (reprint author), Univ Minnesota, Sch Publ Hlth, Div Epidemiol & Community Hlth, 1300 South 2nd St, Minneapolis, MN 55454 USA. EM rapson@umn.edu OI Rapson, Ian/0000-0002-6707-0922; Michos, Erin/0000-0002-5547-5084 FU National Heart, Lung, and Blood Institute [HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, HHSN268201100012C]; NIH National Heart, Lung, and Blood Institute [R01 HL103706]; NIH Office of Dietary Supplements [R01 HL103706-S1]; NHLBI CARe (Candidate Gene Resource) grant [N01-HC-65226] FX The authors thank the staff and participants of the ARIC study for their important contributions. The Atherosclerosis Risk in Communities Study is carried out as a collaborative study supported by National Heart, Lung, and Blood Institute contracts (HHSN268201100005C, HHSN268201100006C, HHSN268201100007C, HHSN268201100008C, HHSN268201100009C, HHSN268201100010C, HHSN268201100011C, and HHSN268201100012C). This research was further supported by grants from the NIH National Heart, Lung, and Blood Institute (R01 HL103706 to Dr. Lutsey) and the NIH Office of Dietary Supplements (R01 HL103706-S1 to Dr. Lutsey). Reagents for the C-reactive protein assays were donated by the manufacturers. Genotyping was supported through the NHLBI CARe (Candidate Gene Resource) grant (N01-HC-65226). NR 45 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER IRELAND LTD PI CLARE PA ELSEVIER HOUSE, BROOKVALE PLAZA, EAST PARK SHANNON, CO, CLARE, 00000, IRELAND SN 0021-9150 EI 1879-1484 J9 ATHEROSCLEROSIS JI Atherosclerosis PD FEB PY 2017 VL 257 BP 123 EP 129 DI 10.1016/j.atherosclerosis.2017.01.016 PG 7 WC Cardiac & Cardiovascular Systems; Peripheral Vascular Disease SC Cardiovascular System & Cardiology GA EP5FY UT WOS:000397405600017 PM 28131046 ER PT J AU Joseph, RM O'Shea, TM Allred, EN Heeren, T Hirtz, D Paneth, N Leviton, A Kuban, KCK AF Joseph, Robert M. O'Shea, Thomas M. Allred, Elizabeth N. Heeren, Tim Hirtz, Deborah Paneth, Nigel Leviton, Alan Kuban, Karl C. K. TI Prevalence and associated features of autism spectrum disorder in extremely low gestational age newborns at age 10 years SO AUTISM RESEARCH LA English DT Article DE diagnosis; epidemiology - descriptive; intellectual disability; pre- and perinatal risk factors; prevalence; sex differences ID LOW-BIRTH-WEIGHT; SOCIOECONOMIC-STATUS; PERINATAL FACTORS; PRETERM BIRTH; RISK-FACTORS; TWIN PAIRS; CHILDREN; INFANTS; DISABILITIES; INFLAMMATION AB We sought to estimate the prevalence of autism spectrum disorder (ASD) in children born extremely preterm relative to the U.S. population risk of 1.5% [CDC, 2014] using the best-available diagnostic procedures and minimizing confounding with other neurodevelopmental impairments. Eight hundred and eighty nine of 966 (92%) 10-year-old children from the Extremely Low Gestational Age Newborn birth cohort, delivered at 23-27 weeks gestation in 2002-2004, participated. Children meeting ASD screening criteria on the Social Communication Questionnaire were evaluated with the Autism Diagnostic Interview-Revised (ADI-R). Those meeting ADI-R criteria were assessed with the Autism Diagnostic Observation Schedule-2 (ADOS-2). A positive ADOS-2 score was the criterion for ASD. Twenty-six participants were not assessed for ASD because of severe sensory or motor impairment. In the remaining sample, 61 children met criteria for ASD, resulting in a prevalence of 7.1% (95% CI=5.5-9.0). ASD risk decreased with increasing gestational age, from 15.0% (95% CI=10.0-21.2) for 23-24 weeks, 6.5% (95% CI=4.2-9.4) for 25-26 weeks, to 3.4% (95% CI=1.6-6.1) for 27 weeks gestational age, and this association was independent of IQ. Among children with ASD, 40% had intellectual disability. The male-to-female ratio of children with ASD was 2.1:1 (95% CI=1.2:1-3.5:1), lower than in the general population (4:1). ASD prevalence in the ELGAN cohort was four times higher than in the general population, and was strongly associated with gestational age, underscoring the need for enhanced ASD screening of children born preterm, and suggesting that some risk factors associated with preterm birth may also play a role in the etiology of autism. Autism Res2017, 10: 224-232. (c) 2016 International Society for Autism Research, Wiley Periodicals, Inc. C1 [Joseph, Robert M.] Boston Univ, Sch Med, Dept Anat & Neurobiol, 72 E. Concord St,L 816, Boston, MA 02118 USA. [O'Shea, Thomas M.] Univ N Carolina, Dept Pediat, Chapel Hill, NC USA. [Allred, Elizabeth N.; Leviton, Alan] Harvard Med Sch, Boston, MA USA. [Allred, Elizabeth N.; Leviton, Alan] Boston Childrens Hosp, Boston, MA USA. [Heeren, Tim] Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA. [Hirtz, Deborah] Natl Inst Neurol Disorders & Stroke, Bethesda, MD USA. [Paneth, Nigel] Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI USA. [Kuban, Karl C. K.] Boston Med Ctr, Dept Pediat, Boston, MA USA. RP Joseph, RM (reprint author), Boston Univ, Sch Med, Dept Anat & Neurobiol, 72 E. Concord St,L 816, Boston, MA 02118 USA. EM rmjoseph@bu.edu FU National Institute of Neurological Disorders and Stroke [5U01NS040069-05, 2R01NS040069-06A2]; National Institute of Child Health and Human Development [5P30HD018655-28] FX This study was supported by the National Institute of Neurological Disorders and Stroke (5U01NS040069-05; 2R01NS040069-06A2) and the National Institute of Child Health and Human Development (5P30HD018655-28). NR 45 TC 1 Z9 1 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1939-3792 EI 1939-3806 J9 AUTISM RES JI Autism Res. PD FEB PY 2017 VL 10 IS 2 BP 224 EP 232 DI 10.1002/aur.1644 PG 9 WC Behavioral Sciences; Psychology, Developmental SC Behavioral Sciences; Psychology GA EM9QH UT WOS:000395645700003 PM 27220677 ER PT J AU Wendler, D Rid, A AF Wendler, David Rid, Annette TI In Defense of a Social Value Requirement for Clinical Research SO BIOETHICS LA English DT Article DE research ethics; clinical research; social value; research policy; exploitation; moral integrity of researchers ID BIOMEDICAL-RESEARCH AB Many guidelines and commentators endorse the view that clinical research is ethically acceptable only when it has social value, in the sense of collecting data which might be used to improve health. A version of this social value requirement is included in the Declaration of Helsinki and the Nuremberg Code, and is codified in many national research regulations. At the same time, there have been no systematic analyses of why social value is an ethical requirement for clinical research. Recognizing this gap in the literature, recent articles by Alan Wertheimer and David Resnik argue that the extant justifications for the social value requirement are unpersuasive. Both authors conclude, contrary to almost all current guidelines and regulations, that it can be acceptable across a broad range of cases to conduct clinical research which is known prospectively to have no social value. The present article assesses this conclusion by critically evaluating the ethical and policy considerations relevant to the claim that clinical research must have social value. This analysis supports the standard view that social value is an ethical requirement for the vast majority of clinical research studies and should be mandated by applicable guidelines and policies. C1 [Wendler, David] US NIH, Ctr Clin, Dept Bioeth, Sect Res Eth, Bethesda, MD USA. [Rid, Annette] Kings Coll London, Dept Global Hlth & Social Med, Bioeth & Soc, London, England. [Rid, Annette] Hastings Ctr, Garrison, NY USA. RP Rid, A (reprint author), Kings Coll London, Dept Global Hlth & Social Med, London WC2R 2LS, England. EM annette.rid@kcl.ac.uk FU US NIH Clinical Center; European Union [301816] FX We thank Benedict Rumbold, Benjamin Sachs, Seema Shah, two anonymous reviewers and audiences at the Philosophy & Medicine Colloquium at King's College London and the 12th World Congress of Bioethics for helpful comments on earlier versions of this article. The present work was funded in part by intramural research funds of the US NIH Clinical Center. However, the views expressed are the authors' own. They do not represent the position or policy of the US NIH, the PHS, or the DHHS. Annette Rid received funding from the from the People Programme (Marie Curie Actions) of the European Union's Seventh Framework Programme (FP7/2007-2013) under REA grant agreement no 301816. NR 24 TC 1 Z9 1 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0269-9702 EI 1467-8519 J9 BIOETHICS JI Bioethics PD FEB PY 2017 VL 31 IS 2 SI SI BP 77 EP 86 DI 10.1111/bioe.12325 PG 10 WC Ethics; Medical Ethics; Social Issues; Social Sciences, Biomedical SC Social Sciences - Other Topics; Medical Ethics; Social Issues; Biomedical Social Sciences GA EK1GV UT WOS:000393674700002 PM 28060427 ER PT J AU Barsdorf, N Millum, J AF Barsdorf, Nicola Millum, Joseph TI The Social Value of Health Research and the Worst Off SO BIOETHICS LA English DT Article DE social value; worst off; health research; priority setting; global health ID BIOMEDICAL-RESEARCH; PUBLIC-HEALTH; CHILD DEATHS; MORTALITY; COUNTRIES AB In this article we argue that the social value of health research should be conceptualized as a function of both the expected benefits of the research and the priority that the beneficiaries deserve. People deserve greater priority the worse off they are. This conception of social value can be applied for at least two important purposes: (1) in health research priority setting when research funders, policy-makers, or researchers decide between alternative research projects; and (2) in evaluating the ethics of proposed research proposals when research ethics committees (RECs) assess whether the social value of the research is sufficient to justify the risks and burdens to research participants and others. In assessing how far a proposed research project will advance the interests of people who are more disadvantaged, research priority setters and RECs should examine (at least) the diseases that the research targets and the type of research. Just as certain diseases impose a greater burden on people who are more disadvantaged, so certain types of intervention and forms of research are more likely to benefit people who are more disadvantaged. We outline which populations are likely to be representative of the global worst off and identify what types of health research, and which disease categories, are priorities for these populations. C1 [Barsdorf, Nicola] Univ Stellenbosch, Fac Med & Hlth Sci, Hlth Res Eth Off, Stellenbosch, South Africa. [Millum, Joseph] NIH, Clin Ctr Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. [Millum, Joseph] NIH, Fogarty Int Ctr, Bldg 10, Bethesda, MD 20892 USA. RP Barsdorf, N (reprint author), Univ Stellenbosch, Hlth Res Eth, RDSD, Fac Med & Hlth Sci, Cape Town, Western Cape, South Africa. EM nbarsdorf@sun.ac.za NR 49 TC 1 Z9 1 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0269-9702 EI 1467-8519 J9 BIOETHICS JI Bioethics PD FEB PY 2017 VL 31 IS 2 SI SI BP 105 EP 115 DI 10.1111/bioe.12320 PG 11 WC Ethics; Medical Ethics; Social Issues; Social Sciences, Biomedical SC Social Sciences - Other Topics; Medical Ethics; Social Issues; Biomedical Social Sciences GA EK1GV UT WOS:000393674700005 PM 28060428 ER PT J AU Nayak, R Shah, SK AF Nayak, Rahul Shah, Seema K. TI Should Social Value Obligations be Local or Global? SO BIOETHICS LA English DT Article DE global justice; global health; reasonable availability; international research ethics; social value ID CLINICAL-RESEARCH; INTERNATIONAL RESEARCH; DEVELOPING-COUNTRIES; RESPONSIBILITY; HEALTH; JUSTICE; CARE; REQUIREMENT; BENEFITS; VACCINES AB According to prominent bioethics scholars and international guidelines, researchers and sponsors have obligations to ensure that the products of their research are reasonably available to research participants and their communities. In other words, the claim is that research is unethical unless it has local social value. In this article, we argue that the existing conception of reasonable availability should be replaced with a social value obligation that extends to the global poor (and not just research participants and host communities). To the extent the social value requirement has been understood as geographically constrained to the communities that host research and the countries that can afford the products of research, it has neglected to include the global poor as members of the relevant society. We argue that a new conception of social value obligations is needed for two reasons. First, duties of global beneficence give reason for researchers, sponsors, and institutions to take steps to make their products more widely accessible. Second, public commitments made by many institutions acknowledge and engender responsibilities to make the products of research more accessible to the global poor. Future research is needed to help researchers and sponsors discharge these obligations in ways that unlock their full potential. C1 [Nayak, Rahul] Harvard Med Sch, Boston, MA USA. [Nayak, Rahul; Shah, Seema K.] NIH, Ctr Clin, Dept Bioeth, Bldg 10, Bethesda, MD 20892 USA. [Shah, Seema K.] Univ Washington, Sch Med, Dept Pediat, Div Bioeth, Seattle, WA 98195 USA. [Shah, Seema K.] Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, Seattle, WA USA. RP Shah, SK (reprint author), Univ Washington, Sch Med, Seattle Childrens Res Inst, Treuman Katz Ctr Pediat Bioeth, 1900 Ninth Ave,Rm 687, Seattle, WA 98101 USA. EM Seema.Shah@seattlechildrens.org NR 61 TC 1 Z9 1 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0269-9702 EI 1467-8519 J9 BIOETHICS JI Bioethics PD FEB PY 2017 VL 31 IS 2 SI SI BP 116 EP 127 DI 10.1111/bioe.12322 PG 12 WC Ethics; Medical Ethics; Social Issues; Social Sciences, Biomedical SC Social Sciences - Other Topics; Medical Ethics; Social Issues; Biomedical Social Sciences GA EK1GV UT WOS:000393674700006 PM 28060432 ER PT J AU Wetendorf, M Wu, SP Wang, XQ Creighton, CJ Wang, TY Lanz, RB Blok, L Tsai, SY Tsai, MJ Lydon, JP DeMayo, FJ AF Wetendorf, Margeaux Wu, San-Pin Wang, Xiaoqiu Creighton, Chad J. Wang, Tianyuan Lanz, Rainer B. Blok, Leen Tsai, Sophia Y. Tsai, Ming-Jer Lydon, John P. DeMayo, Francesco J. TI Decreased epithelial progesterone receptor A at the window of receptivity is required for preparation of the endometrium for embryo attachment SO BIOLOGY OF REPRODUCTION LA English DT Article DE progesterone receptor; implantation; uterine receptivity; progesterone signaling; mouse models ID LEUKEMIA INHIBITORY FACTOR; BLASTOCYST IMPLANTATION; EARLY-PREGNANCY; MAMMARY-GLAND; ESTROUS-CYCLE; MICE LACKING; B ISOFORM; EXPRESSION; MOUSE; UTERUS AB The precise timing of progesterone signaling through its cognate receptor, the progesterone receptor (PGR), is critical for the establishment and maintenance of pregnancy. Loss of PGR expression in the murine uterine epithelium during the preimplantation period is a marker for uterine receptivity and embryo attachment. We hypothesized that the decrease in progesterone receptor A (PGRA) expression is necessary for successful embryo implantation. To test this hypothesis, a mouse model constitutively expressing PGRA (mPgrA(LsL/+)) was generated. Expression of PGRA in all uterine compartments (Pgrcre) or uterine epithelium (Wnt7a(cre)) resulted in infertility with defects in embryo attachment and stromal decidualization. Expression of critical PGRA target genes, in-dian hedgehog, and amphiregulin (Areg), wasmaintained through the window of receptivity while the estrogen receptor target gene, the leukemia inhibitory factor (Lif), a key regulator of embryo receptivity, was decreased. Transcriptomic and cistromic analyses of the mouse uterus at day 4.5 of pregnancy identified an altered group of genes regulating molecular transport in the control of fluid and ion levels within the uterine interstitial space. Additionally, LIF and its cognate receptor, the leukemia inhibitory factor receptor (LIFR), exhibited PGR-binding events in regions upstream of the transcriptional start sites, suggesting PGRA is inhibiting transcription at these loci. Therefore, downregulation of the PGRA isoform at the window of receptivity is necessary for the attenuation of hedgehog signaling, transcriptional activation of LIF signaling, and modulation of solutes and fluid, producing a receptive environment for the attaching embryo. Summary Sentence Expression of PGRA at the window of receptivity transcriptionally represses LIF signaling and aberrantly regulates hedgehog and solute signaling rendering the uterus unreceptive to the implanting embryo. C1 [Wetendorf, Margeaux; Wu, San-Pin; Wang, Xiaoqiu; DeMayo, Francesco J.] Natl Inst Environm Hlth Sci, Reprod & Dev Biol Lab, 111 TW Alexander Dr,Res Triangle Pk, Durham, NC 27709 USA. [Wetendorf, Margeaux; Lanz, Rainer B.; Tsai, Sophia Y.; Tsai, Ming-Jer; Lydon, John P.] Baylor Coll Med, Dept Mol & Cellular Biol, Houston, TX 77030 USA. [Wetendorf, Margeaux] Baylor Coll Med, Integrat Mol & Biomed Sci Grad Program, Houston, TX 77030 USA. [Creighton, Chad J.] Baylor Coll Med, Dan L Duncan Comprehens Canc Ctr, Houston, TX 77030 USA. [Wang, Tianyuan] Natl Inst Environm Hlth Sci, Integrat Bioinformat, Res Triangle Pk, Durham, NC USA. [Blok, Leen] Univ Med Ctr Rotterdam, Erasmus MC Canc Inst, Dept Obstet & Gynaecol, Rotterdam, Netherlands. RP DeMayo, FJ (reprint author), Natl Inst Environm Hlth Sci, Reprod & Dev Biol Lab, 111 TW Alexander Dr,Res Triangle Pk, Durham, NC 27709 USA. EM demayofj@niehs.nih.gov FU NIH [Z1AES103311-01, R01HD042311, R01CA77530, P30CA125123]; NURSA [U19DK62434] FX This work was supported by NIH Grants: Z1AES103311-01, R01HD042311, R01CA77530 (to John P. Lydon), P30CA125123 (to Chad J. Creighton), and NURSA grant: U19DK62434 (to Ming-Jer Tsai, Sophia Y. Tsai, and Francesco J. DeMayo). NR 36 TC 0 Z9 0 U1 0 U2 0 PU SOC STUDY REPRODUCTION PI MADISON PA 1691 MONROE ST,SUITE # 3, MADISON, WI 53711-2021 USA SN 0006-3363 EI 1529-7268 J9 BIOL REPROD JI Biol. Reprod. PD FEB PY 2017 VL 96 IS 2 BP 313 EP 326 DI 10.1095/biolreprod.116.144410 PG 14 WC Reproductive Biology SC Reproductive Biology GA EP3UW UT WOS:000397308200005 PM 28203817 ER PT J AU Sun, H Nguyen, K Kerns, E Yan, ZY Yu, KR Shah, P Jadhav, A Xu, X AF Sun, Hongmao Nguyen, Kimloan Kerns, Edward Yan, Zhengyin Yu, Kyeong Ri Shah, Pranav Jadhav, Ajit Xu, Xin TI Highly predictive and interpretable models for PAMPA permeability SO BIOORGANIC & MEDICINAL CHEMISTRY LA English DT Article DE PAMPA; Permeability; Support vector machine; Prediction ID DRUG ABSORPTION; ARTIFICIAL MEMBRANES; CACO-2; QSAR; REGRESSION; MACHINE; SYSTEM AB Cell membrane permeability is an important determinant for oral absorption and bioavailability of a drug molecule. An in silico model predicting drug permeability is described, which is built based on a large permeability dataset of 7488 compound entries or 5435 structurally unique molecules measured by the same lab using parallel artificial membrane permeability assay (PAMPA). On the basis of customized molecular descriptors, the support vector regression (SVR) model trained with 4071 compounds with quantitative data is able to predict the remaining 1364 compounds with the qualitative data with an area under the curve of receiver operating characteristic (AUC-ROC) of 0.90. The support vector classification (SVC) model trained with half of the whole dataset comprised of both the quantitative and the qualitative data produced accurate predictions to the remaining data with the AUC-ROC of 0.88. The results suggest that the developed SVR model is highly predictive and provides medicinal chemists a useful in silico tool to facilitate design and synthesis of novel compounds with optimal drug-like properties, and thus accelerate the lead optimization in drug discovery. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Sun, Hongmao; Nguyen, Kimloan; Kerns, Edward; Yan, Zhengyin; Yu, Kyeong Ri; Shah, Pranav; Jadhav, Ajit; Xu, Xin] NIH, Natl Ctr Adv Translat Sci, Bethesda, MD 20892 USA. [Nguyen, Kimloan] NYC Dept Hlth & Mental Hyg, 42-09 28th St, Queens, NY 11101 USA. [Yan, Zhengyin] Genentech Inc, Drug Metab & Pharmacokinet, 1 DNA Way, San Francisco, CA 94080 USA. RP Sun, H (reprint author), NIH, NCATS, 9800 Med Ctr Dr, Rockville, MD 20850 USA. EM sunh7@mail.nih.gov; xin.xu3@nih.gov FU Intramural NIH HHS [Z99 TR999999] NR 31 TC 0 Z9 0 U1 0 U2 0 PU PERGAMON-ELSEVIER SCIENCE LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, ENGLAND SN 0968-0896 EI 1464-3391 J9 BIOORGAN MED CHEM JI Bioorg. Med. Chem. PD FEB 1 PY 2017 VL 25 IS 3 BP 1266 EP 1276 DI 10.1016/j.bmc.2016.12.049 PG 11 WC Biochemistry & Molecular Biology; Chemistry, Medicinal; Chemistry, Organic SC Biochemistry & Molecular Biology; Pharmacology & Pharmacy; Chemistry GA EK8VE UT WOS:000394201900044 PM 28082071 ER PT J AU Henderson, MK Goldring, K Simeon-Dubach, D AF Henderson, Marianne K. Goldring, Kirstin Simeon-Dubach, Daniel TI Achieving and Maintaining Sustainability in Biobanking Through Business Planning, Marketing, and Access SO BIOPRESERVATION AND BIOBANKING LA English DT Editorial Material ID HOSPITAL-BASED BIOBANK; BIOREPOSITORY; RECOVERY; MODEL C1 [Henderson, Marianne K.] NCI, 9609 Med Ctr Dr,MSC 9777, Bethesda, MD 20892 USA. [Goldring, Kirstin] AstraZeneca, Discovery Sci, Cambridge, England. [Simeon-Dubach, Daniel] Medservice, Walchwil, Switzerland. RP Henderson, MK (reprint author), NCI, 9609 Med Ctr Dr,MSC 9777, Bethesda, MD 20892 USA. EM hendersm@mail.nih.gov NR 22 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1947-5535 EI 1947-5543 J9 BIOPRESERV BIOBANK JI Biopreserv. Biobank. PD FEB PY 2017 VL 15 IS 1 SI SI BP 1 EP 2 DI 10.1089/bio.2016.0083 PG 2 WC Cell Biology; Chemistry, Applied; Medical Laboratory Technology SC Cell Biology; Chemistry; Medical Laboratory Technology GA EM5YA UT WOS:000395388700001 PM 27860502 ER PT J AU Shea, KE Wagner, EL Marchesani, L Meagher, K Giffen, C AF Shea, Katheryn E. Wagner, Elizabeth L. Marchesani, Leah Meagher, Kevin Giffen, Carol TI Efficiently Maintaining a National Resource of Historical and Contemporary Biological Collections: The NHLBI Biorepository Model SO BIOPRESERVATION AND BIOBANKING LA English DT Article DE sustainability; return on investment; consolidation; biorepository ID REPOSITORY; VIRUS AB Introduction: Reducing costs by improving storage efficiency has been a focus of the National Heart, Lung, and Blood Institute (NHLBI) Biologic Specimen Repository (Biorepository) and Biologic Specimen and Data Repositories Information Coordinating Center (BioLINCC) programs for several years. Methods: Study specimen profiles were compiled using the BioLINCC collection catalog. Cost assessments and calculations on the return on investments to consolidate or reduce a collection, were developed and implemented. Results: Over the course of 8 months, the NHLBI Biorepository evaluated 35 collections that consisted of 1.8 million biospecimens. A total of 23 collections were selected for consolidation, with a total of 1.2 million specimens located in 21,355 storage boxes. The consolidation resulted in a savings of 4055 boxes of various sizes and 10.2 mechanical freezers (approximate to 275 cubic feet) worth of space. Conclusion: As storage costs in a biorepository increase over time, the development and use of information technology tools to assess the potential advantage and feasiblity of vial consolidation can reduce maintenance expenses. C1 [Shea, Katheryn E.; Marchesani, Leah] Precis Med, Frederick, MD USA. [Wagner, Elizabeth L.] NHLBI, Div Blood Dis & Resources, Bldg 10, Bethesda, MD 20892 USA. [Meagher, Kevin; Giffen, Carol] Informat Management Serv Inc, Calverton, MD USA. [Shea, Katheryn E.] Brooks Life Sci Syst, Brooks Biostorage Technol, 2910 Fortune Circle West, Indianapolis, IN 46241 USA. RP Shea, KE (reprint author), Brooks Life Sci Syst, Brooks Biostorage Technol, 2910 Fortune Circle West, Indianapolis, IN 46241 USA. EM kathi.shea@brooks.com FU [HHSN 268201400035C]; [HHSN 26201400014C] FX This work was funded by Contract No. HHSN 268201400035C, entitled "NHLBI Biological Specimen Repository'' and HHSN 26201400014C entitled "The Biologic Specimen and Data Repositories Information Coordinating Center.'' NR 8 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1947-5535 EI 1947-5543 J9 BIOPRESERV BIOBANK JI Biopreserv. Biobank. PD FEB PY 2017 VL 15 IS 1 SI SI BP 17 EP 19 DI 10.1089/bio.2016.0112 PG 3 WC Cell Biology; Chemistry, Applied; Medical Laboratory Technology SC Cell Biology; Chemistry; Medical Laboratory Technology GA EM5YA UT WOS:000395388700004 PM 28186851 ER PT J AU Matzke, LAM Babinszky, S Slotty, A Meredith, A Castillo-Pelayo, T Henderson, MK Simeon-Dubach, D Schacter, B Watson, PH AF Matzke, Lise A. M. Babinszky, Sindy Slotty, Alex Meredith, Anna Castillo-Pelayo, Tania Henderson, Marianne K. Simeon-Dubach, Daniel Schacter, Brent Watson, Peter H. TI Biospecimen User Fees: Global Feedback on a Calculator Tool SO BIOPRESERVATION AND BIOBANKING LA English DT Article ID BIOBANK SUSTAINABILITY; MODEL AB The notion of attributing user fees to researchers for biospecimens provided by biobanks has been discussed frequently in the literature. However, the considerations around how to attribute the cost for these biospecimens and data have, until recently, not been well described. Common across most biobank disciplines are similar factors that influence user fees such as capital and operating costs, internal and external demand, and market competition. A biospecimen user fee calculator tool developed by CTRNet, a tumor biobank network, was published in 2014 and is accessible online at www.biobanking.org. The next year a survey was launched that tested the applicability of this user fee tool among a global health research biobank user base, including both cancer and noncancer biobanking. Participants were first asked to estimate user fee pricing for three hypothetical user scenarios based on their biobanking experience (estimated pricing) and then to calculate fees for the same scenarios using the calculator tool (calculated pricing). Results demonstrated variation in estimated pricing that was reduced by calculated pricing. These results are similar to those found in a similar previous study restricted to a group of Canadian tumor biobanks. We conclude that the use of a biospecimen user fee calculator contributes to reduced variation of user fees and for biobank groups (e.g., biobank networks), could become an important part of a harmonization strategy. C1 [Matzke, Lise A. M.; Slotty, Alex; Meredith, Anna; Watson, Peter H.] Univ British Columbia, Dept Pathol & Lab Med, Off Biobank Educ & Res OBER, Vancouver, BC V5Z 4E3, Canada. [Babinszky, Sindy; Castillo-Pelayo, Tania; Watson, Peter H.] BC Canc Agcy, Vancouver Isl Ctr, Tumour Tissue Repository TTR, Victoria, BC, Canada. [Henderson, Marianne K.] NCI, NIH, Bethesda, MD 20892 USA. [Simeon-Dubach, Daniel] Medservice, Walchwil, Switzerland. [Schacter, Brent; Watson, Peter H.] Canadian Tissue Repository Network, CancerCare Manitoba, Winnipeg, MB, Canada. RP Matzke, LAM (reprint author), Univ British Columbia, Dept Pathol & Lab Med, Off Biobank Educ & Res OBER, Vancouver, BC V5Z 4E3, Canada. EM lmatzke@pathology.ubc.ca NR 17 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1947-5535 EI 1947-5543 J9 BIOPRESERV BIOBANK JI Biopreserv. Biobank. PD FEB PY 2017 VL 15 IS 1 SI SI BP 57 EP 64 DI 10.1089/bio.2016.0027 PG 8 WC Cell Biology; Chemistry, Applied; Medical Laboratory Technology SC Cell Biology; Chemistry; Medical Laboratory Technology GA EM5YA UT WOS:000395388700009 PM 27576065 ER PT J AU Simeon-Dubach, D Goldring, K Henderson, MK AF Simeon-Dubach, Daniel Goldring, Kirstin Henderson, Marianne K. TI Trends in Biobanking Business Planning: Initial Results of a Survey of Biobankers SO BIOPRESERVATION AND BIOBANKING LA English DT Article ID SUSTAINABILITY; MODEL C1 [Simeon-Dubach, Daniel] Medserv Biobanking Consulting & Serv, Hoerndllirain 22, CH-6318 Walchwil, Switzerland. [Goldring, Kirstin] AstraZeneca, Discovery Sci, Cambridge, England. [Henderson, Marianne K.] NCI, Bethesda, MD 20892 USA. RP Simeon-Dubach, D (reprint author), Medserv Biobanking Consulting & Serv, Hoerndllirain 22, CH-6318 Walchwil, Switzerland. EM daniel.simeon-dubach@medservice.ch NR 13 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1947-5535 EI 1947-5543 J9 BIOPRESERV BIOBANK JI Biopreserv. Biobank. PD FEB PY 2017 VL 15 IS 1 SI SI BP 72 EP 74 DI 10.1089/bio.2016.0080 PG 3 WC Cell Biology; Chemistry, Applied; Medical Laboratory Technology SC Cell Biology; Chemistry; Medical Laboratory Technology GA EM5YA UT WOS:000395388700011 PM 27936871 ER PT J AU Wentzensen, N AF Wentzensen, N. TI Optimising cervical cancer screening programs: how to evaluate incremental changes? SO BJOG-AN INTERNATIONAL JOURNAL OF OBSTETRICS AND GYNAECOLOGY LA English DT Editorial Material C1 [Wentzensen, N.] NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. RP Wentzensen, N (reprint author), NCI, Div Canc Epidemiol & Genet, Bethesda, MD 20892 USA. NR 4 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1470-0328 EI 1471-0528 J9 BJOG-INT J OBSTET GY JI BJOG PD FEB PY 2017 VL 124 IS 3 BP 485 EP 485 PG 1 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA EO9KL UT WOS:000397007500025 PM 27365189 ER PT J AU DeFilipp, Z Duarte, RF Snowden, JA Majhail, NS Greenfield, DM Miranda, JL Arat, M Baker, KS Burns, LJ Duncan, CN Gilleece, M Hale, GA Hamadani, M Hamilton, BK Hogan, WJ Hsu, JW Inamoto, Y Kamble, RT Lupo-Stanghellini, MT Malone, AK McCarthy, P Mohty, M Norkin, M Paplham, P Ramanathan, M Richart, JM Salooja, N Schouten, HC Schoemans, H Seber, A Steinberg, A Wirk, BM Wood, WA Battiwalla, M Flowers, MED Savani, BN Shaw, BE AF DeFilipp, Z. Duarte, R. F. Snowden, J. A. Majhail, N. S. Greenfield, D. M. Miranda, J. L. Arat, M. Baker, K. S. Burns, L. J. Duncan, C. N. Gilleece, M. Hale, G. A. Hamadani, M. Hamilton, B. K. Hogan, W. J. Hsu, J. W. Inamoto, Y. Kamble, R. T. Lupo-Stanghellini, M. T. Malone, A. K. McCarthy, P. Mohty, M. Norkin, M. Paplham, P. Ramanathan, M. Richart, J. M. Salooja, N. Schouten, H. C. Schoemans, H. Seber, A. Steinberg, A. Wirk, B. M. Wood, W. A. Battiwalla, M. Flowers, M. E. D. Savani, B. N. Shaw, B. E. CA CIBMTR Late Effects Quality Life EBMT Complications Quality Life TI Metabolic syndrome and cardiovascular disease following hematopoietic cell transplantation: screening and preventive practice recommendations from CIBMTR and EBMT SO BONE MARROW TRANSPLANTATION LA English DT Review ID LONG-TERM SURVIVORS; BONE-MARROW-TRANSPLANTATION; BODY-COMPOSITION ABNORMALITIES; ACUTE LYMPHOBLASTIC-LEUKEMIA; IMPAIRED GLUCOSE-TOLERANCE; RISK-FACTORS; DIABETES-MELLITUS; SCIENTIFIC STATEMENT; GLOBAL BURDEN; HEMATOLOGIC MALIGNANCIES AB Metabolic syndrome (MetS) is a constellation of cardiovascular risk factors that increases the risk of cardiovascular disease, diabetes mellitus and all cause mortality. Long-term survivors of hematopoietic cell transplantation (HCT) have a substantial risk of developing MetS and cardiovascular disease, with the estimated prevalence of MetS being 31-49% among HCT recipients. Although MetS has not yet been proven to impact cardiovascular risk after HCT, an understanding of the incidence and risk factors for MetS in HCT recipients can provide the foundation to evaluate screening guidelines and develop interventions that may mitigate cardiovascular-related mortality. A working group was established through the Center for International Blood and Marrow Transplant Research and the European Group for Blood and Marrow Transplantation with the goal of reviewing literature and recommend practices appropriate to HCT recipients. Here we deliver consensus recommendations to help clinicians provide screening and preventive care for MetS and cardiovascular disease among HCT recipients. All HCT survivors should be advised of the risks of MetS and encouraged to undergo recommended screening based on their predisposition and ongoing risk factors. C1 [DeFilipp, Z.] Emory Univ, Winship Canc Inst, Dept Hematol & Med Oncol, Atlanta, GA 30322 USA. [Duarte, R. F.] Hosp Univ Puerta Hierro Majadahonda, Madrid, Spain. [Snowden, J. A.] Univ Sheffield, Sheffield Teaching Hosp NHS Fdn Trust, Dept Haematol, Sheffield, S Yorkshire, England. [Snowden, J. A.] Univ Sheffield, Dept Oncol & Metab, Sheffield, S Yorkshire, England. [Majhail, N. S.; Hamilton, B. K.] Cleveland Clin, Dept Hematol & Oncol, Cleveland, OH 44106 USA. [Greenfield, D. M.] Sheffield Teaching Hosp NHS Fdn Trust, Specialized Canc Serv, Shefflied, England. [Miranda, J. L.] Univ Cordoba, Maimonides Inst Biomed Res Cordoba IMIBIC, Reina Sofia Univ Hosp,Dept Med, CIBER Fisiopatol Obesidad Nutr CIBEROB,Inst Salud, Cordoba, Spain. [Arat, M.] Florence Nightingale Sisli Hosp, Hematopoiet Stem Cell Transplantat Unit, Istanbul, Turkey. [Baker, K. S.; Flowers, M. E. D.] Fred Hutchinson Canc Res Ctr, Div Clin Res, 1124 Columbia St, Seattle, WA 98104 USA. [Burns, L. J.] Univ Minnesota, Natl Marrow Donor Program, Minneapolis, MN USA. [Duncan, C. N.] Dana Farber Canc Inst, Pediat Stem Cell Transplant, Boston, MA 02115 USA. [Gilleece, M.] Leeds Teaching Hosp NHS Trust, Leeds, W Yorkshire, England. [Hale, G. A.] John Hopkins Med, All Childrens Hosp, St Petersburg, FL USA. [Hamadani, M.; Shaw, B. E.] Med Coll Wisconsin, Dept Med, CIBMTR, 9200W Wisconsin Ave, Milwaukee, WI 53226 USA. [Hogan, W. J.] Mayo Clin, Dept Internal Med, Div Hematol, Rochester, MN USA. [Hsu, J. W.; Wirk, B. M.] Univ Florida, Dept Med, Div Hematol & Oncol, Gainesville, FL 32610 USA. [Inamoto, Y.] Natl Canc Ctr, Div Hematopoiet Stem Cell Transplantat, Tokyo, Japan. [Kamble, R. T.] Baylor Coll Med, Div Hematol & Oncol, Ctr Cell & Gene Therapy, Houston, TX 77030 USA. [Lupo-Stanghellini, M. T.] Ist Sci San Raffaele, Hematol & Bone Marrow Transplantat Unit, Milan, Italy. [Malone, A. K.; Steinberg, A.] Icahn Sch Med Mt Sinai, Tisch Canc Inst, Div Hematol Oncol, New York, NY 10029 USA. [McCarthy, P.; Paplham, P.] Roswell Pk Canc Inst, BMT Program, Dept Med, Buffalo, NY 14263 USA. [Mohty, M.] Univ Paris 06, Paris, France. [Mohty, M.] Hop St Antoine, AP HP, Paris, France. [Mohty, M.] INSERM, UMRs 938, Paris, France. [Ramanathan, M.] UMass Mem Med Ctr, Dept Hematol Oncol & Bone Marrow Transplant, Worcester, MA USA. [Richart, J. M.] St Louis Univ, Dept Internal Med, Div Hematol & Med Oncol, St Louis, MO 63103 USA. [Salooja, N.] Hammersmith Hosp, London, England. [Schouten, H. C.] Maastricht Univ, Med Ctr, Maastricht, Netherlands. [Schoemans, H.] Univ Hosp Leuven, Dept Hematol, Leuven, Belgium. [Schoemans, H.] Katholieke Univ Leuven, Leuven, Belgium. [Seber, A.] Hosp Samaritano, Sao Paulo, Brazil. [Seber, A.] Assoc Medula Ossea AMEO, Sao Paulo, Brazil. [Wirk, B. M.] SUNY Stony Brook, Med Ctr, Dept Internal Med, Stony Brook, NY 11794 USA. [Wood, W. A.] Univ N Carolina, Dept Med, Div Hematol Oncol, Chapel Hill, NC USA. [Battiwalla, M.] NIH, Hematol Branch, Bldg 10, Bethesda, MD 20892 USA. [Savani, B. N.] Vanderbilt Univ, Med Ctr, Dept Med, Div Hematol Oncol, Nashville, TN USA. RP Shaw, BE (reprint author), Med Coll Wisconsin, Dept Med, CIBMTR, 9200W Wisconsin Ave, Milwaukee, WI 53226 USA. EM beshaw@mcw.edu FU NCI NIH HHS [U24 CA076518] NR 96 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0268-3369 EI 1476-5365 J9 BONE MARROW TRANSPL JI Bone Marrow Transplant. PD FEB PY 2017 VL 52 IS 2 BP 173 EP 182 DI 10.1038/bmt.2016.203 PG 10 WC Biophysics; Oncology; Hematology; Immunology; Transplantation SC Biophysics; Oncology; Hematology; Immunology; Transplantation GA EK7VW UT WOS:000394134300002 PM 27548466 ER PT J AU Maziarz, RT Brazauskas, R Chen, M McLeod, AA Martino, R Wingard, JR Aljurf, M Battiwalla, M Dvorak, CC Geroge, B Guinan, EC Hale, GA Lazarus, HM Lee, JW Liesveld, JL Ramanathan, M Reddy, V Savani, BN Smith, FO Strasfeld, L Taplitz, RA Ustun, C Boeckh, MJ Gea-Banacloche, J Lindemans, CA Auletta, JJ Riches, ML AF Maziarz, R. T. Brazauskas, R. Chen, M. McLeod, A. A. Martino, R. Wingard, J. R. Aljurf, M. Battiwalla, M. Dvorak, C. C. Geroge, B. Guinan, E. C. Hale, G. A. Lazarus, H. M. Lee, J-W Liesveld, J. L. Ramanathan, M. Reddy, V. Savani, B. N. Smith, F. O. Strasfeld, L. Taplitz, R. A. Ustun, C. Boeckh, M. J. Gea-Banacloche, J. Lindemans, C. A. Auletta, J. J. Riches, M. L. TI Pre-existing invasive fungal infection is not a contraindication for allogeneic HSCT for patients with hematologic malignancies: a CIBMTR study SO BONE MARROW TRANSPLANTATION LA English DT Article ID HEMATOPOIETIC-CELL TRANSPLANTATION; UNRELATED DONORS; ASPERGILLOSIS; RECIPIENTS; DISEASES; PROPHYLAXIS; FLUCONAZOLE; MORTALITY; VORICONAZOLE; COMBINATION AB Patients with prior invasive fungal infection (IFI) increasingly proceed to allogeneic hematopoietic cell transplantation (HSCT). However, little is known about the impact of prior IFI on survival. Patients with pre-transplant IFI (cases; n = 825) were compared with controls (n = 10247). A subset analysis assessed outcomes in leukemia patients pre-and post 2001. Cases were older with lower performance status (KPS), more advanced disease, higher likelihood of AML and having received cord blood, reduced intensity conditioning, mold-active fungal prophylaxis and more recently transplanted. Aspergillus spp. and Candida spp. were the most commonly identified pathogens. 68% of patients had primarily pulmonary involvement. Univariate and multivariable analysis demonstrated inferior PFS and overall survival (OS) for cases. At 2 years, cases had higher mortality and shorter PFS with significant increases in non-relapse mortality (NRM) but no difference in relapse. One year probability of post-HSCT IFI was 24% (cases) and 17% (control, P < 0.001). The predominant cause of death was underlying malignancy; infectious death was higher in cases (13% vs 9%). In the subset analysis, patients transplanted before 2001 had increased NRM with inferior OS and PFS compared with later cases. Pre-transplant IFI is associated with lower PFS and OS after allogeneic HSCT but significant survivorship was observed. Consequently, pre-transplant IFI should not be a contraindication to allogeneic HSCT in otherwise suitable candidates. Documented pre-transplant IFI is associated with lower PFS and OS after allogeneic HSCT. However, mortality post transplant is more influenced by advanced disease status than previous IFI. Pre-transplant IFI does not appear to be a contraindication to allogeneic HSCT. C1 [Maziarz, R. T.; McLeod, A. A.] Oregon Hlth & Sci Univ, Adult Blood & Marrow Stem Cell Transplant Program, Knight Canc Inst, 3181 SW Sam Jackson Pk Rd, Portland, OR 97239 USA. [Brazauskas, R.; Chen, M.] Med Coll Wisconsin, Dept Med, CIBMTR, Milwaukee, WI 53226 USA. [Brazauskas, R.] Med Coll Wisconsin, Inst Hlth & Soc, Div Biostat, Milwaukee, WI 53226 USA. [Martino, R.] Hosp Santa Creu & Sant Pau, Div Clin Hematol, Barcelona, Spain. [Wingard, J. R.] Univ Florida, Dept Med, Div Hematol & Oncol, Gainesville, FL USA. [Aljurf, M.] King Faisal Specialist Hosp Ctr & Res, Dept Oncol, Riyadh, Saudi Arabia. [Battiwalla, M.] NHLBI, Hematol Branch, Bethesda, MD 20892 USA. [Dvorak, C. C.] Univ Calif San Francisco, Dept Pediat, Med Ctr, San Francisco, CA USA. [Geroge, B.] Christian Med Coll & Hosp, Dept Hematol, Vellore, Tamil Nadu, India. [Guinan, E. C.] Dana Farber Canc Inst, Dept Pediat Oncol, Boston, MA 02115 USA. [Hale, G. A.] All Childrens Hosp, Dept Hematol Oncol, St Petersburg, FL USA. [Lazarus, H. M.] Univ Hosp Case Med Ctr, Seidman Canc Ctr, Cleveland, OH USA. [Lee, J-W] Catholic Univ Korea, Seoul St Marys Hosp, BMT Ctr, Seoul, South Korea. [Liesveld, J. L.] Univ Rochester, Med Ctr, Dept Med, Rochester, NY 14642 USA. [Ramanathan, M.] UMass Mem Med Ctr, Dept Med, Div Hematol & Oncol, Worcester, MA USA. [Reddy, V.] Univ Cent Florida, Coll Med, Dept Internal Med, Orlando, FL 32816 USA. [Savani, B. N.] Vanderbilt Univ, Med Ctr, Dept Med, Div Hematol Oncol, Nashville, TN USA. [Smith, F. O.] Univ Cincinnati, Inst Canc, Cincinnati, OH USA. [Strasfeld, L.] Oregon Hlth & Sci Univ, Infect Dis Clin, Portland, OR 97201 USA. [Taplitz, R. A.] UC San Diego Hlth, Infect Dis Program, La Jolla, CA USA. [Ustun, C.] Univ Minnesota, Med Ctr, Div Hematol Oncol & Transplantat, Dept Med, Minneapolis, MN 55455 USA. [Boeckh, M. J.] Fred Hutchinson Canc Res Ctr, Vaccine & Infect Dis Div, 1124 Columbia St, Seattle, WA 98104 USA. [Gea-Banacloche, J.] NCI, Expt Transplantat & Immunol Branch, NIH, Bethesda, MD 20892 USA. [Lindemans, C. A.] Univ Med Ctr Utrecht, Pediat Blood & Marrow Transplantat Program, Utrecht, Netherlands. [Auletta, J. J.] Nationwide Childrens Hosp, Div Hematol Oncol, Columbus, OH USA. [Auletta, J. J.] Nationwide Childrens Hosp, Div Bone Marrow Transplantat, Columbus, OH USA. [Auletta, J. J.] Nationwide Childrens Hosp, Div Infect Dis, Columbus, OH USA. [Riches, M. L.] Univ North Carolina Chapel Hill, Div Hematol Oncol, Chapel Hill, NC USA. RP Maziarz, RT (reprint author), Oregon Hlth & Sci Univ, Adult Blood & Marrow Stem Cell Transplant Program, Knight Canc Inst, 3181 SW Sam Jackson Pk Rd, Portland, OR 97239 USA. EM maziarzr@ohsu.edu FU Public Health Service Grant from the National Cancer Institute (NCI) [U24-CA076518]; National Heart, Lung and Blood Institute (NHLBI); National Institute of Allergy and Infectious Diseases (NIAID) Grant from NHLBI [5U10HL069294]; NCI [HHSH250201200016C]; Health Resources and Services Administration (HRSA/DHHS) Grants from the Office of Naval Research [N00014-13-1-0039, N00014-14-1-0028]; Actinium Pharmaceuticals; Allos Therapeutics, Inc.; Amgen, Inc.; Anonymous donation to the Medical College of Wisconsin; Ariad; Be the Match Foundation; Blue Cross and Blue Shield Association; Celgene Corporation; Chimerix, Inc.; Fred Hutchinson Cancer Research Center; Fresenius-Biotech North America, Inc.; Gamida Cell Teva Joint Venture Ltd.; Genentech, Inc.; Gentium SpA; Genzyme Corporation; GlaxoSmithKline; Health Research, Inc. Roswell Park Cancer Institute; HistoGenetics, Inc.; Incyte Corporation; Jeff Gordon Children's Foundation; Kiadis Pharma; The Leukemia & Lymphoma Society; Medac GmbH; The Medical College of Wisconsin; Merck Co, Inc.; Millennium: The Takeda Oncology Co.; Milliman USA, Inc.; Perkin Elmer, Inc.; Remedy Informatics; Sanofi US; Seattle Genetics; Sigma-Tau Pharmaceuticals; Soligenix, Inc.; St. Baldrick's Foundation; StemCyte, A Global Cord Blood Therapeutics Co.; Stemsoft Software, Inc.; Swedish Orphan Biovitrum; Tarix Pharmaceuticals; TerumoBCT; Teva Neuroscience, Inc.; THERAKOS,Inc.; University of Minnesota; University of Utah; Wellpoint, Inc. FX The CIBMTR is supported by Public Health Service Grant/Cooperative Agreement U24-CA076518 from the National Cancer Institute (NCI), the National Heart, Lung and Blood Institute (NHLBI) and the National Institute of Allergy and Infectious Diseases (NIAID); a Grant/Cooperative Agreement 5U10HL069294 from NHLBI and NCI; a contract HHSH250201200016C with Health Resources and Services Administration (HRSA/DHHS); two Grants N00014-13-1-0039 and N00014-14-1-0028 from the Office of Naval Research; and grants from *Actinium Pharmaceuticals; Allos Therapeutics, Inc.; *Amgen, Inc.; Anonymous donation to the Medical College of Wisconsin; Ariad; Be the Match Foundation; *Blue Cross and Blue Shield Association; *Celgene Corporation; Chimerix, Inc.; Fred Hutchinson Cancer Research Center; Fresenius-Biotech North America, Inc.; *Gamida Cell Teva Joint Venture Ltd.; Genentech, Inc.; *Gentium SpA; Genzyme Corporation; GlaxoSmithKline; Health Research, Inc. Roswell Park Cancer Institute; HistoGenetics, Inc.; Incyte Corporation; Jeff Gordon Children's Foundation; Kiadis Pharma; The Leukemia & Lymphoma Society; Medac GmbH; The Medical College of Wisconsin; Merck & Co, Inc.; Millennium: The Takeda Oncology Co.; *Milliman USA, Inc.; *Miltenyi Biotec, Inc.; National Marrow Donor Program; Onyx Pharmaceuticals; Optum Healthcare Solutions, Inc.; Osiris Therapeutics, Inc.; Otsuka America Pharmaceutical, Inc.; Perkin Elmer, Inc.; *Remedy Informatics; *Sanofi US; Seattle Genetics; Sigma-Tau Pharmaceuticals; Soligenix, Inc.; St. Baldrick's Foundation; StemCyte, A Global Cord Blood Therapeutics Co.; Stemsoft Software, Inc.; Swedish Orphan Biovitrum; *Tarix Pharmaceuticals; *TerumoBCT; *Teva Neuroscience, Inc.; *THERAKOS,Inc.; University of Minnesota; University of Utah; and *Wellpoint, Inc. The views expressed in this article do not reflect the official policy or position of the National Institute of Health, the Department of the Navy, the Department of Defense, Health Resources and Services Administration (HRSA) or any other agency of the US Government. *Corporate Members NR 29 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0268-3369 EI 1476-5365 J9 BONE MARROW TRANSPL JI Bone Marrow Transplant. PD FEB PY 2017 VL 52 IS 2 BP 270 EP 278 DI 10.1038/bmt.2016.259 PG 9 WC Biophysics; Oncology; Hematology; Immunology; Transplantation SC Biophysics; Oncology; Hematology; Immunology; Transplantation GA EK7VW UT WOS:000394134300017 PM 27991895 ER PT J AU Cui, CY Schlessinger, D AF Cui, C. -Y. Schlessinger, D. TI Neuropeptide PACAP promotes sweat secretion SO BRITISH JOURNAL OF DERMATOLOGY LA English DT Editorial Material C1 [Cui, C. -Y.; Schlessinger, D.] NIA, Lab Genet & Genom, NIH, 251 Bayview Blvd,Suite 100, Baltimore, MD 21224 USA. RP Cui, CY (reprint author), NIA, Lab Genet & Genom, NIH, 251 Bayview Blvd,Suite 100, Baltimore, MD 21224 USA. EM cuic@mail.nih.gov FU Intramural Research Program of the National Institute on Aging, NIH FX This work was supported by the Intramural Research Program of the National Institute on Aging, NIH. NR 9 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0007-0963 EI 1365-2133 J9 BRIT J DERMATOL JI Br. J. Dermatol. PD FEB PY 2017 VL 176 IS 2 BP 295 EP 296 DI 10.1111/bjd.15162 PG 2 WC Dermatology SC Dermatology GA EL6TM UT WOS:000394755100017 PM 28244081 ER PT J AU Drasar, E Fitzpatrick, E Gardner, K Awogbade, M Dhawan, A Bomford, A Suddle, A Thein, SL AF Drasar, Emma Fitzpatrick, Emer Gardner, Kate Awogbade, Moji Dhawan, Anil Bomford, Adrian Suddle, Abid Thein, Swee L. TI Interim assessment of liver damage in patients with sickle cell disease using new non-invasive techniques SO BRITISH JOURNAL OF HAEMATOLOGY LA English DT Article DE sickle cell anaemia; liver disease; haemoglobinopathy; cirrhosis; fibrosis ID TRANSIENT ELASTOGRAPHY; HEPATITIS-C; FIBROSIS; ADULTS; HEPATOPATHY; FIBROTEST; BIOPSY; SCORE; RISK; ELF AB We explored transient elastography (TE) and enhanced liver fibrosis (ELF) score with standard markers of liver function to assess liver damage in 193 well patients with sickle cell disease (SCD). Patients with HbSS or HbS(0) thalassaemia (sickle cell anaemia, SCA; N=134), had significantly higher TE results and ELF scores than those with HbSC (N=49) disease (TE, 68 vs. 53, P<00001 and ELF, 92 vs. 86 P<00001). In SCA patients, TE and ELF correlated significantly with age and all serum liver function tests (LFTs). Additionally, (weak) positive correlation was found with lactate dehydrogenase (TE: r=024, P=0004; ELF: r=026 P=0002), and (weak) negative correlation with haemoglobin (TE: r=-025, P=0002; ELF: r=-025 P=0004). In HbSC patients, correlations were weaker or not significant between TE or ELF, and serum LFTs. All markers of iron loading correlated with TE values when corrected for sickle genotype (serum ferritin, =025, P<00001, total blood transfusion units, =025, P<00001 and LIC =032, P=0046). The exploratory study suggests that, while TE could have a role, the utility of ELF score in monitoring liver damage in SCD, needs further longitudinal studies. C1 [Drasar, Emma; Gardner, Kate; Thein, Swee L.] Kings Coll London, Fac Life Sci & Med, Mol Haematol, London, England. [Drasar, Emma; Gardner, Kate; Awogbade, Moji; Thein, Swee L.] Kings Coll Hosp NHS Fdn Trust, Dept Haematol Med, London, England. [Fitzpatrick, Emer; Dhawan, Anil] Kings Coll Hosp London, Dept Paediat Hepatol, London, England. [Bomford, Adrian; Suddle, Abid] Kings Coll Hosp London, Inst Hepatol, London, England. [Thein, Swee L.] NHLBI, Sickle Cell Branch, NIH, Bldg 10 CRC 5E 5142,10 Ctr Dr, Bethesda, MD 20892 USA. [Drasar, Emma] Whittington Hosp, London, England. RP Thein, SL (reprint author), NHLBI, Sickle Cell Branch, NIH, Bldg 10 CRC 5E 5142,10 Ctr Dr, Bethesda, MD 20892 USA. EM sl.thein@nih.gov FU MRC Grant from the Medical Research Council, UK [G0001249] FX We thank Marlene Allman for help in recruiting subjects for the study. This work was supported by a grant (MRC Grant No. G0001249) from the Medical Research Council, UK to SLT. NR 24 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0007-1048 EI 1365-2141 J9 BRIT J HAEMATOL JI Br. J. Haematol. PD FEB PY 2017 VL 176 IS 4 BP 643 EP 650 DI 10.1111/bjh.14462 PG 8 WC Hematology SC Hematology GA EM1MH UT WOS:000395081200016 PM 27984631 ER PT J AU Song, DJ Luo, M Dai, MY Bu, SZ Wang, WH Zhang, BR Gonzalez, FJ Liu, AM AF Song, Danjun Luo, Min Dai, Manyun Bu, Shizhong Wang, Weihua Zhang, Burong Gonzalez, Frank J. Liu, Aiming TI PPAR alpha-dependent increase of mouse urine output by gemfibrozil and fenofibrate SO CANADIAN JOURNAL OF PHYSIOLOGY AND PHARMACOLOGY LA English DT Article DE gemfibrozil; urine output; PPAR alpha; fenofibrate ID ACTIVATED-RECEPTOR-ALPHA; BLOOD-PRESSURE; INSULIN-RESISTANCE; METABOLIC SYNDROME; FIBRATE THERAPY; RENAL-FUNCTION; HYPERTENSION; PREVALENCE; RATS; ASSOCIATION AB While gemfibrozil and fenofibrate are prescribed for anti-dyslipidemia treatment, a rational basis for the use of these drugs for treatment of dyslipidemia with concurrent metabolic syndrome has not been established. In this study, wild-type and Ppar alpha-null mice were fed gemfibrozil-or fenofibrate-containing diets for 14 days. Urine output (24 h) was monitored, and urine, serum, and liver and kidney tissues were subjected to toxicity assessment. A 2-month challenge followed by a 2-week wash-out was performed for gemfibrozil to determine urine output and the potential toxicity. A therapeutically equivalent dose of gemfibrozil was more effective than fenofibrate in increasing urine output. This regulatory effect was not observed in Ppar alpha-null mice. In contrast, hepatomegaly induced by fenofibrate was more pronounced than that of gemfibrozil. No significant toxicity was observed in liver or kidney in the 2-month treatment with gemfibrozil. These data demonstrated PPAR alpha mediates the increased urine output by fibrates. Considering the relative action on hepatomegaly and the regulatory effect on urine output, gemfibrozil may be the preferable drug to increase urine output. These results revealed a new pharmacodynamic effect of clinically prescribed PPAR alpha agonists and suggested the potential value of gemfibrozil in modification of blood pressure. C1 [Song, Danjun; Luo, Min; Dai, Manyun; Bu, Shizhong; Liu, Aiming] Ningbo Univ, Sch Med, Ningbo 315211, Peoples R China. [Wang, Weihua; Zhang, Burong] Ningbo Univ, Affiliated Hosp, Coll Med, Ningbo 315020, Peoples R China. [Gonzalez, Frank J.] NIH, Natl Canc Inst, Lab Metab, Bethesda, MD 20892 USA. RP Liu, AM (reprint author), Ningbo Univ, Sch Med, Ningbo 315211, Peoples R China. EM liuaiming@nbu.edu.cn FU National Natural Science Foundation of China [81273582, 81302848]; Public Projects of Zhejiang Province [2015C37110, 2015R405055]; Ningbo Science and Technology Innovation Team Program [2014B82002]; K.C. Wong Magna Fund in Ningbo University; National Cancer Institute Intramural Research Program FX This work was supported by National Natural Science Foundation of China (Grants 81273582, 81302848), Public Projects of Zhejiang Province (2015C37110, 2015R405055), Ningbo Science and Technology Innovation Team Program (2014B82002), K.C. Wong Magna Fund in Ningbo University, and the National Cancer Institute Intramural Research Program. NR 27 TC 0 Z9 0 U1 0 U2 0 PU CANADIAN SCIENCE PUBLISHING, NRC RESEARCH PRESS PI OTTAWA PA 65 AURIGA DR, SUITE 203, OTTAWA, ON K2E 7W6, CANADA SN 0008-4212 EI 1205-7541 J9 CAN J PHYSIOL PHARM JI Can. J. Physiol. Pharmacol. PD FEB PY 2017 VL 95 IS 2 BP 199 EP 205 DI 10.1139/cjpp-2016-0140 PG 7 WC Pharmacology & Pharmacy; Physiology SC Pharmacology & Pharmacy; Physiology GA EM6KK UT WOS:000395421200013 PM 27918198 ER PT J AU Acquaye, AA Vera, E Gilbert, MR Armstrong, TS AF Acquaye, Alvina A. Vera, Elizabeth Gilbert, Mark R. Armstrong, Terri S. TI Clinical presentation and outcomes for adult ependymoma patients SO CANCER LA English DT Article DE cancer treatment; central nervous system; ependymoma; quality of life; symptoms ID SPINAL-CORD COMPRESSION; PROGNOSTIC-FACTORS; TUMORS; PROJECT AB BACKGROUNDOutcomes projects can be a catalyst for determining disease- and treatment-related consequences for patients with rare tumors. The Adult Ependymoma Outcomes (AEO) survey uses self-reported experience to evaluate how this tumor affects patient groups throughout the illness trajectory. METHODSPatients completed the AEO survey via a Web-based portal. The survey included questions on treatment, tumor recurrence, and current health status; the MD Anderson Symptom Inventory Brain Tumor and Spine Tumor modules; and the Medical Outcomes Study 36-Item Short Form Health Survey (SF-36). RESULTSThe sample included 264 participants (57% female) with a median age of 46 years (range, 18-77 years). Radiation treatment was commonly used for patients who had brain involvement ((2)(1)=20.7; P<.001), underwent a partial resection (43%; (2)(3)=15.4; P<.001), or had a grade 3 tumor (41%; (2)(2)=18.8; P<.001). Recurrence occurred in a small group (29%), with grade 1 tumor patients 2.6 times more likely and grade 3 tumor patients 2.5 times more likely to experience recurrence than those with grade 2 tumors. Spine tumor patients had a higher symptom burden (mean, 2.8; scale, 0-10) than brain tumor patients (t(247)=-4.0), and they reported more moderate to severe symptoms (rating5; 29%) than their counterparts (18%). Within the physical health portion of the SF-36, spine tumor patients reported worse health with respect to bodily pain (t(249)=6.8; P<.001), physical functioning (t(252)=4.1; P<.001), and vitality (t(202.2)=3.0; P<.003). CONCLUSIONSThese results demonstrate the feasibility of implementing outcomes projects that report on the clinical and demographic characteristics of a rare patient population, and they underscore the importance of outcomes data in understanding disease-related issues. Cancer 2017;123:494-501. (c) 2016 American Cancer Society. Implementing outcomes projects is feasible for ependymoma patients. Outcomes data help in understanding disease-related issues for this patient population. C1 [Acquaye, Alvina A.; Vera, Elizabeth; Armstrong, Terri S.] Univ Texas Hlth Sci Ctr Houston, Houston, TX 77030 USA. [Gilbert, Mark R.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Acquaye, AA (reprint author), Univ Texas Hlth Sci Ctr Houston, Sch Nursing, Dept Family Hlth, 6901 Bertner Ave,Room 577, Houston, TX 77030 USA. EM alvina.a.acquaye@uth.tmc.edu FU Collaborative Ependymoma Research Network Foundation FX This study is supported by the Collaborative Ependymoma Research Network Foundation. NR 19 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0008-543X EI 1097-0142 J9 CANCER-AM CANCER SOC JI Cancer PD FEB 1 PY 2017 VL 123 IS 3 BP 494 EP 501 DI 10.1002/cncr.30355 PG 8 WC Oncology SC Oncology GA EL6GV UT WOS:000394719300017 PM 27679985 ER PT J AU Breen, N Lewis, DR Gibson, JT Yu, M Harper, S AF Breen, Nancy Lewis, Denise Riedel Gibson, James Todd Yu, Mandi Harper, Sam TI Assessing disparities in colorectal cancer mortality by socioeconomic status using new tools: health disparities calculator and socioeconomic quintiles SO CANCER CAUSES & CONTROL LA English DT Article DE Disparities; Colorectal Cancer Mortality; HD*Calc; SES Quintiles; Concentration Index; Inequality Aversion Parameter ID UNITED-STATES; RACIAL DISPARITIES; FUNDAMENTAL CAUSES; EXTREMELY POOR; INEQUALITIES; AMERICAN; TRENDS; CHEMOTHERAPY; PATTERNS; EUROPE AB Colorectal cancer mortality rates dropped by half in the past three decades, but these gains were accompanied by striking differences in colorectal cancer mortality by socioeconomic status (SES). Our research objective is to examine disparities in colorectal cancer mortality by SES, using a scientifically rigorous and reproducible approach with publicly available online tools, HD*Calc and NCI SES Quintiles. All reported colorectal cancer deaths in the United States from 1980 to 2010 were categorized into NCI SES quintiles and assessed at the county level. Joinpoint was used to test for significant changes in trends. Absolute and relative concentration indices (CI) were computed with HD*Calc to graph change in disparity over time. Disparities by SES significantly declined until 1993-1995, and then increased until 2010, due to a mortality drop in populations living in high SES areas that exceeded the mortality drop in lower SES areas. HD*Calc results were consistent for both absolute and relative concentration indices. Inequality aversion parameter weights of 2, 4, 6 and 8 were compared to explore how much colorectal cancer mortality was concentrated in the poorest quintile compared to the richest quintile. Weights larger than 4 did not increase the slope of the disparities trend. There is consistent evidence for a significant crossover in colorectal cancer disparity from 1980 to 2010. Trends in disparity can be accurately and readily summarized using the HD*Calc tool. The disparity trend, combined with published information on the timing of screening and treatment uptake, is concordant with the idea that introduction of medical screening and treatment leads to lower uptake in lower compared to higher SES populations and that differential uptake yields disparity in population mortality. C1 [Breen, Nancy; Lewis, Denise Riedel; Yu, Mandi] NCI, Div Canc Control & Populat Sci, 6707 Democracy Blvd,Suite 800 MSC 5465, Bethesda, MD 20892 USA. [Breen, Nancy] Natl Inst Minor Hlth & Hlth Dispar, Off Sci Policy Planning Anal & Reporting, Bethesda, MD 20892 USA. [Gibson, James Todd] Informat Management Serv Inc, Beltsville, MD USA. [Harper, Sam] McGill Univ, Montreal, PQ, Canada. RP Breen, N (reprint author), NCI, Div Canc Control & Populat Sci, 6707 Democracy Blvd,Suite 800 MSC 5465, Bethesda, MD 20892 USA.; Breen, N (reprint author), Natl Inst Minor Hlth & Hlth Dispar, Off Sci Policy Planning Anal & Reporting, Bethesda, MD 20892 USA. EM Breenn@mail.nih.gov OI Harper, Sam/0000-0002-2767-1053 NR 45 TC 0 Z9 0 U1 1 U2 1 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0957-5243 EI 1573-7225 J9 CANCER CAUSE CONTROL JI Cancer Causes Control PD FEB PY 2017 VL 28 IS 2 BP 117 EP 125 DI 10.1007/s10552-016-0842-2 PG 9 WC Oncology; Public, Environmental & Occupational Health SC Oncology; Public, Environmental & Occupational Health GA EL2LV UT WOS:000394452100004 PM 28083800 ER PT J AU Tewary, P Gunatilaka, AAL Sayers, TJ AF Tewary, Poonam Gunatilaka, A. A. Leslie Sayers, Thomas J. TI Using natural products to promote caspase-8-dependent cancer cell death SO CANCER IMMUNOLOGY IMMUNOTHERAPY LA English DT Review DE TRAIL; Apoptosis; Necroptosis; Poly (I:C); PIVAC15 ID TRAIL RECEPTOR; LIGAND TRAIL; PROGRAMMED NECROSIS; INDUCED APOPTOSIS; RIP KINASES; THERAPY; NECROPTOSIS; AGONISTS; IMMUNOTHERAPY; RIPOPTOSOME AB The selective killing of cancer cells without toxicity to normal nontransformed cells is an idealized goal of cancer therapy. Thus, there has been much interest in tumor necrosis factor-related apoptosis-inducing ligand (TRAIL), a protein that appears to selectively kill cancer cells. TRAIL has been reported to trigger apoptosis and under some circumstances, an alternate death signaling pathway termed necroptosis. The relative importance of necroptosis for cell death induction in vivo is under intensive investigation. Nonetheless, many cancer cells (particularly those freshly isolated from cancer patients) are highly resistant to TRAIL-mediated cell death. Therefore, there is an underlying interest in identifying agents that can be combined with TRAIL to improve its efficacy. There are numerous reports in which combination of TRAIL with standard antineoplastic drugs has resulted in enhanced cancer cell death in vitro. However, many of these chemotherapeutic drugs are nonspecific and associated with adverse effects, which raise serious concerns for cancer therapy in patients. By contrast, natural products have been shown to be safer and efficacious alternatives. Recently, a number of studies have suggested that certain natural products when combined with TRAIL can enhance cancer cell death. In this review, we highlight molecular pathways that might be targeted by various natural products to promote cell death, and focus on our recent work with withanolides as TRAIL sensitizers. Finally, we will suggest synergistic approaches for combining active withanolides with various forms of immunotherapy to promote cancer cell death and an effective antitumor immune response. C1 [Tewary, Poonam; Sayers, Thomas J.] NCI, Canc & Inflammat Program, Frederick, MD 21702 USA. [Tewary, Poonam; Sayers, Thomas J.] Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Basic Sci Program, Frederick, MD 21702 USA. [Gunatilaka, A. A. Leslie] Univ Arizona, Coll Agr & Life Sci, Sch Nat Resources & Environm, Nat Prod Ctr, Tucson, AZ USA. RP Tewary, P; Sayers, TJ (reprint author), NCI, Canc & Inflammat Program, Frederick, MD 21702 USA.; Tewary, P; Sayers, TJ (reprint author), Frederick Natl Lab Canc Res, Leidos Biomed Res Inc, Basic Sci Program, Frederick, MD 21702 USA. EM tewaryp@mail.nih.gov; sayerst@mail.nih.gov FU National Cancer Institute, National Institutes of Health [HHSN26120080001E]; Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research; University of Arizona College of Agriculture and Life Sciences FX We thank Andrew Sayers for his assistance with the artwork. This project has been funded in whole or in part with federal funds from the National Cancer Institute, National Institutes of Health, under contract HHSN26120080001E. The content of this publication does not necessarily reflect the views or policies of the Department of Health and Human Services, nor does mention of trade names, commercial products, or organizations imply endorsement by the US Government. This research was supported [in part] by the Intramural Research Program of the NIH, National Cancer Institute, Center for Cancer Research and the University of Arizona College of Agriculture and Life Sciences. NR 51 TC 1 Z9 1 U1 2 U2 2 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0340-7004 EI 1432-0851 J9 CANCER IMMUNOL IMMUN JI Cancer Immunol. Immunother. PD FEB PY 2017 VL 66 IS 2 BP 223 EP 231 DI 10.1007/s00262-016-1855-0 PG 9 WC Oncology; Immunology SC Oncology; Immunology GA EM0AY UT WOS:000394982400009 PM 27286684 ER PT J AU Pinto, M Pickrell, AM Wang, X Bacman, SR Yu, AX Hida, A Dillon, LM Morton, PD Malek, TR Williams, SL Moraes, CT AF Pinto, Milena Pickrell, Alicia M. Wang, Xiao Bacman, Sandra R. Yu, Aixin Hida, Aline Dillon, Lloye M. Morton, Paul D. Malek, Thomas R. Williams, Sion L. Moraes, Carlos T. TI Transient mitochondrial DNA double strand breaks in mice cause accelerated aging phenotypes in a ROS-dependent but p53/p21-independent manner SO CELL DEATH AND DIFFERENTIATION LA English DT Article ID TARGETED RESTRICTION-ENDONUCLEASE; ATAXIA-TELANGIECTASIA; OXIDATIVE STRESS; MUTATOR MICE; STEM-CELLS; ADULT MICE; IN-VIVO; P53; ACTIVATION; EXPRESSION AB We observed that the transient induction of mtDNA double strand breaks (DSBs) in cultured cells led to activation of cell cycle arrest proteins (p21/p53 pathway) and decreased cell growth, mediated through reactive oxygen species (ROS). To investigate this process in vivo we developed a mouse model where we could transiently induce mtDNA DSBs ubiquitously. This transient mtDNA damage in mice caused an accelerated aging phenotype, preferentially affecting proliferating tissues. One of the earliest phenotypes was accelerated thymus shrinkage by apoptosis and differentiation into adipose tissue, mimicking age-related thymic involution. This phenotype was accompanied by increased ROS and activation of cell cycle arrest proteins. Treatment with antioxidants improved the phenotype but the knocking out of p21 or p53 did not. Our results demonstrate that transient mtDNA DSBs can accelerate aging of certain tissues by increasing ROS. Surprisingly, this mtDNA DSB-associated senescence phenotype does not require p21/p53, even if this pathway is activated in the process. C1 [Pinto, Milena; Bacman, Sandra R.; Hida, Aline; Williams, Sion L.; Moraes, Carlos T.] Univ Miami, Miller Sch Med, Dept Neurol, 1420 NW 9th Ave,Rm 229, Miami, FL 33136 USA. [Pickrell, Alicia M.; Moraes, Carlos T.] Univ Miami, Miller Sch Med, Neurosci Grad Program, Miami, FL 33136 USA. [Wang, Xiao; Moraes, Carlos T.] Univ Miami, Miller Sch Med, Grad Program Canc Biol, Miami, FL 33136 USA. [Yu, Aixin; Malek, Thomas R.] Univ Miami, Miller Sch Med, Dept Microbiol & Immunol, Miami, FL 33136 USA. [Dillon, Lloye M.; Moraes, Carlos T.] Univ Miami, Miller Sch Med, Dept Cell Biol & Anat, Miami, FL 33136 USA. [Morton, Paul D.] Univ Miami, Miller Sch Med, Dept Neurosurg, Miami, FL 33136 USA. [Morton, Paul D.] Childrens Natl Med Ctr, Neurosci Res Ctr, Washington, DC 20010 USA. [Pickrell, Alicia M.] NINDS, Surg Neurol Branch, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Wang, Xiao] Univ Texas MD Anderson Canc Ctr, Dept Mol & Cellular Oncol, Houston, TX 77030 USA. [Dillon, Lloye M.] OncoTAb, Charlotte, NC 28223 USA. RP Moraes, CT (reprint author), Univ Miami, Miller Sch Med, Dept Neurol, 1420 NW 9th Ave,Rm 229, Miami, FL 33136 USA. EM cmoraes@med.miami.edu OI pinto, milena/0000-0001-9202-1527 FU US National Institutes of Health [1R01AG036871]; NIH [1R01NS079965, 5R01EY010804]; Muscular Dystrophy Association; United Mitochondrial Disease Foundation; NEI center from the National Institutes of Health (NIH) [P30-EY014801] FX We would like to thank Dr. Wayne E. Balkan from the University of Miami for the access to and the use of the DEXA scan; Dr. Norman H. Altman VMD for consultation on thymus pathology, Dr. Ying Wang, and Dr. Ge Tao from the University of Miami for antibodies and technical assistance. We also thank the University of Miami Comparative Pathology Laboratory for the blood work analysis. This work was supported primarily by the US National Institutes of Health Grant 1R01AG036871. The following grants also helped support this work: NIH 1R01NS079965, 5R01EY010804; the Muscular Dystrophy Association and the United Mitochondrial Disease Foundation. We acknowledge support from the NEI center grant P30-EY014801 from the National Institutes of Health (NIH). NR 56 TC 0 Z9 0 U1 2 U2 2 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1350-9047 EI 1476-5403 J9 CELL DEATH DIFFER JI Cell Death Differ. PD FEB PY 2017 VL 24 IS 2 BP 288 EP 299 DI 10.1038/cdd.2016.123 PG 12 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EN1SE UT WOS:000395789500011 PM 27911443 ER PT J AU Dougherty, K Cox, MA Ninomiya, T Leopold, DA Maier, A AF Dougherty, Kacie Cox, Michele A. Ninomiya, Taihei Leopold, David A. Maier, Alexander TI Ongoing Alpha Activity in V1 Regulates Visually Driven Spiking Responses SO CEREBRAL CORTEX LA English DT Article DE cortical column; cross-frequency coupling; functional connectivity; microcircuitry; neuronal interactions ID LAYER-5 PYRAMIDAL NEURONS; SOURCE-DENSITY ANALYSIS; MACAQUE MONKEY; UNATTENDED STIMULI; BAND OSCILLATIONS; CORTICAL SOURCE; CORTEX; NEOCORTEX; INHIBITION; LAMINAR AB The interlaminar connections in the primate primary visual cortex (V1) are well described, as is the presence of ongoing alpha-range (7-14 Hz) fluctuations in this area. Less well understood is how these interlaminar connections and ongoing fluctuations contribute to the regulation of visual spiking responses. Here, we investigate the relationship between alpha fluctuations and spiking responses to visual stimuli across cortical layers. Using laminar probes in macaque V1, we show that neural firing couples with the phase of alpha fluctuations, and that magnitude of this coupling is particularly pronounced during visual stimulation. The strongest modulation of spiking activity was observed in layers 2/3. Alpha-spike coupling and current source density analysis pointed to an infragranular origin of the alpha fluctuations. Taken together, these results indicate that ongoing infragranular alpha-range fluctuations in V1 play a role in regulating columnar visual activity. C1 [Dougherty, Kacie; Cox, Michele A.; Ninomiya, Taihei; Maier, Alexander] Vanderbilt Univ, Dept Psychol, PMB 407817,2301 Vanderbilt Pl, Nashville, TN 37240 USA. [Leopold, David A.] NIMH, Neuropsychol Lab, Bldg 9, Bethesda, MD 20892 USA. [Leopold, David A.] NIMH, Neurophysiol Imaging Facil, NINDS, Bethesda, MD 20892 USA. [Leopold, David A.] NEI, Bethesda, MD 20892 USA. RP Maier, A (reprint author), Vanderbilt Univ, Dept Psychol, PMB 407817,2301 Vanderbilt Pl, Nashville, TN 37240 USA. EM alex.maier@vanderbilt.edu FU NIMH; Whitehall Foundation; Knights Templar Eye Foundation; Alfred P. Sloan Foundation FX This work was supported by the Intramural Research Program of the NIMH and grants by the Whitehall Foundation, the Knights Templar Eye Foundation, and the Alfred P. Sloan Foundation to A.M. NR 70 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD FEB PY 2017 VL 27 IS 2 BP 1113 EP 1124 DI 10.1093/cercor/bhv304 PG 12 WC Neurosciences SC Neurosciences & Neurology GA EP3BN UT WOS:000397257600018 PM 26656725 ER PT J AU Wilson, EN Abela, AR Do Carmo, S Allard, S Marks, AR Welikovitch, LA Ducatenzeiler, A Chudasama, Y Cuello, AC AF Wilson, Edward N. Abela, Andrew R. Do Carmo, Sonia Allard, Simon Marks, Adam R. Welikovitch, Lindsay A. Ducatenzeiler, Adriana Chudasama, Yogita Cuello, A. Claudio TI Intraneuronal Amyloid Beta Accumulation Disrupts Hippocampal CRTC1-Dependent Gene Expression and Cognitive Function in a Rat Model of Alzheimer Disease SO CEREBRAL CORTEX LA English DT Article DE Alzheimer disease; amyloid beta; CRTC1; learning and memory; touchscreen operant platform ID SENSITIVE COINCIDENCE DETECTOR; CREB COACTIVATOR CRTC1; FRONTOTEMPORAL DEMENTIA; VISUAL-DISCRIMINATION; CIRCADIAN CLOCK; MEMORY; BRAIN; TRANSCRIPTION; IMPAIRMENT; NEURONS AB In Alzheimer disease (AD), the accumulation of amyloid beta (A beta) begins decades before cognitive symptoms and progresses from intraneuronal material to extracellular plaques. To date, however, the precise mechanism by which the early buildup of A beta peptides leads to cognitive dysfunction remains unknown. Here, we investigate the impact of the early A beta accumulation on temporal and frontal lobe dysfunction. We compared the performance of McGill-R-Thy1-APP transgenic AD rats with wild-type littermate controls on a visual discrimination task using a touchscreen operant platform. Subsequently, we conducted studies to establish the biochemical and molecular basis for the behavioral alterations. It was found that the presence of intraneuronal A beta caused a severe associative learning deficit in the AD rats. This coincided with reduced nuclear translocation and genomic occupancy of the CREB co-activator, CRTC1, and decreased production of synaptic plasticity-associated transcripts Arc, c-fos, Egr1, and Bdnf. Thus, blockade of CRTC1-dependent gene expression in the early, preplaque phase of AD-like pathology provides a molecular basis for the cognitive deficits that figure so prominently in early AD. C1 [Wilson, Edward N.; Do Carmo, Sonia; Allard, Simon; Marks, Adam R.; Welikovitch, Lindsay A.; Ducatenzeiler, Adriana; Cuello, A. Claudio] McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 1Y6, Canada. [Abela, Andrew R.; Chudasama, Yogita] McGill Univ, Dept Psychol, Montreal, PQ H3A 1B1, Canada. [Cuello, A. Claudio] McGill Univ, Dept Anat & Cell Biol, Montreal, PQ, Canada. [Cuello, A. Claudio] McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada. [Chudasama, Yogita] NIMH, NIH, Bethesda, MD 20892 USA. RP Cuello, AC (reprint author), McGill Univ, Dept Pharmacol & Therapeut, Montreal, PQ H3G 1Y6, Canada.; Cuello, AC (reprint author), McGill Univ, Dept Anat & Cell Biol, Montreal, PQ, Canada.; Cuello, AC (reprint author), McGill Univ, Dept Neurol & Neurosurg, Montreal, PQ, Canada. EM claudio.cuello@mcgill.ca FU Canadian Institutes of Health Research [102507, 102752]; Centres of Excellence in Neurodegeneration [01074] FX This work was supported by grants from the Canadian Institutes of Health Research awarded to Y.C.(grant number: 102507) and A.C.C.(grant number: 102752) and Centres of Excellence in Neurodegeneration (grant number: 01074) to A.C.C.S.D.C.is the holder of the Charles E.Frosst/Merck Research Associate Position. A.C.C.is the holder of the McGill University Charles E.Frosst/Merck Chair in Pharmacology.We wish to thank Dr.A.Frosst, the Frosst family, and Merck Canada for their continuing support. NR 58 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD FEB PY 2017 VL 27 IS 2 BP 1501 EP 1511 DI 10.1093/cercor/bhv332 PG 11 WC Neurosciences SC Neurosciences & Neurology GA EP3BN UT WOS:000397257600048 PM 26759481 ER PT J AU Liu, N Hadj-Bouziane, F Moran, R Ungerleider, LG Ishai, A AF Liu, Ning Hadj-Bouziane, Fadila Moran, Rosalyn Ungerleider, Leslie G. Ishai, Alumit TI Facial Expressions Evoke Differential Neural Coupling in Macaques SO CEREBRAL CORTEX LA English DT Article DE connectivity; DCM; emotion; faces; primates ID DISTRIBUTED CORTICAL NETWORK; INFERIOR TEMPORAL CORTEX; FACE PERCEPTION; FUNCTIONAL MRI; EFFECTIVE CONNECTIVITY; ORBITOFRONTAL CORTEX; PREFRONTAL CORTEX; CONTRAST AGENT; FMRI RESPONSES; MONKEY AB In humans and monkeys, face perception activates a distributed cortical network that includes extrastriate, limbic, and prefrontal regions. Within face-responsive regions, emotional faces evoke stronger responses than neutral faces ("valence effect"). We used fMRI and Dynamic Causal Modeling (DCM)to test the hypothesis that emotional faces differentially alter the functional coupling among face- responsive regions. Three monkeys viewed conspecific faces with neutral, threatening, fearful, and appeasing expressions. Using Bayesian model selection, various models of neural interactions between the posterior (TEO) and anterior (TE) portions of inferior temporal (IT) cortex, the amygdala, the orbitofrontal (OFC), and ventrolateral prefrontal cortex (VLPFC) were tested. The valence effect was mediated by feedback connections from the amygdala to TE and TEO, and feedback connections from VLPFC to the amygdala and TE. Emotional faces were associated with differential effective connectivity: Fearful faces evoked stronger modulations in the connections from the amygdala to TE and TEO; threatening faces evoked weaker modulations in the connections from the amygdala and VLPFC to TE; and appeasing faces evoked weaker modulations in the connection from VLPFC to the amygdala. Our results suggest dynamic alterations in neural coupling during the perception of behaviorally relevant facial expressions that are vital for social communication. C1 [Liu, Ning; Ungerleider, Leslie G.; Ishai, Alumit] NIMH, Lab Brain & Cognit, Bethesda, MD 20892 USA. [Hadj-Bouziane, Fadila] Lyon Neurosci Res Ctr, INSERM, U1028,UMR5292, CNRS, Lyon, France. [Moran, Rosalyn] Virginia Tech, Caril Res Inst, Roanoke, VA USA. [Ishai, Alumit] Univ Zurich, Dept Neuroradiol, Zurich, Switzerland. RP Ishai, A (reprint author), NIMH, Lab Brain & Cognit, Bethesda, MD 20892 USA.; Ishai, A (reprint author), Univ Zurich, Dept Neuroradiol, Zurich, Switzerland. EM alumit.ishai@nih.gov FU National Institute of Mental Health Intramural Research Program; Swiss National Center for Competence in Research: Neural Plasticity and Repair; Commission on Gender Equality of Zurich University FX Ning Liu and Leslie G. Ungerleider were supported by the National Institute of Mental Health Intramural Research Program. Alumit Ishai was supported by the Swiss National Center for Competence in Research: Neural Plasticity and Repair, and by the Commission on Gender Equality of Zurich University. NR 48 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD FEB PY 2017 VL 27 IS 2 BP 1524 EP 1531 DI 10.1093/cercor/bhv345 PG 8 WC Neurosciences SC Neurosciences & Neurology GA EP3BN UT WOS:000397257600050 PM 26759479 ER PT J AU Leone, DP Panagiotakos, G Heavner, WE Joshi, P Zhao, Y Westphal, H McConnell, SK AF Leone, Dino P. Panagiotakos, Georgia Heavner, Whitney E. Joshi, Pushkar Zhao, Yangu Westphal, Heiner McConnell, Susan K. TI Compensatory Actions of Ldb Adaptor Proteins During Corticospinal Motor Neuron Differentiation SO CEREBRAL CORTEX LA English DT Article DE brain development; corticospinal motor neurons; differentiation; Ldb ID DEVELOPING CEREBRAL-CORTEX; LIM-HOMEODOMAIN PROTEINS; DEVELOPING NEOCORTEX; PROJECTION NEURONS; HOMEOBOX GENE; IN-VIVO; LMO4; SPECIFICATION; MOUSE; TBR1 AB Although many genes that specify neocortical projection neuron subtypes have been identified, the downstream effectors that control differentiation of those subtypes remain largely unknown. Here, we demonstrate that the LIM domain-binding proteins Ldb1 and Ldb2 exhibit dynamic and inversely correlated expression patterns during cerebral cortical development. Ldb1deficient brains display severe defects in proliferation and changes in regionalization, phenotypes resembling those of Lhx mutants. Ldb2-deficient brains, on the other hand, exhibit striking phenotypes affecting layer 5 pyramidal neurons: Immature neurons have an impaired capacity to segregate into mature callosal and subcerebral projection neurons. The analysis of Ldb2 single-mutant mice reveals a compensatory role of Ldb1 for Ldb2 during corticospinal motor neuron (CSMN) differentiation. Animals lacking both Ldb1 and Ldb2 uncover the requirement for Ldb2 during CSMN differentiation, manifested as incomplete CSMN differentiation, and ultimately leading to a failure of the corticospinal tract. C1 [Leone, Dino P.; Heavner, Whitney E.; Joshi, Pushkar; McConnell, Susan K.] Stanford Univ, Dept Biol, Stanford, CA 94305 USA. [Panagiotakos, Georgia] Univ Calif San Francisco, Dept Biochem & Biophys, Ely & Edythe Broad Ctr Regenerat Med & Stem Cell, San Francisco, CA 94143 USA. [Zhao, Yangu; Westphal, Heiner] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Lab Mammalian Genes & Dev, Program Genom Dev, NIH, Bethesda, MD USA. RP McConnell, SK (reprint author), Stanford Univ, Dept Biol, Stanford, CA 94305 USA. EM suemcc@stanford.edu FU National Institutes of Health [MH051864] FX This work was supported by the National Institutes of Health (MH051864) to S. K. M. NR 52 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1047-3211 EI 1460-2199 J9 CEREB CORTEX JI Cereb. Cortex PD FEB PY 2017 VL 27 IS 2 BP 1686 EP 1699 DI 10.1093/cercor/bhw003 PG 14 WC Neurosciences SC Neurosciences & Neurology GA EP3BN UT WOS:000397257600061 PM 26830346 ER PT J AU Shank, LM Tanofsky-Kraff, M Kelly, NR Schvey, NA Marwitz, SE Mehari, RD Brady, SM Demidowich, AP Broadney, MM Galescu, OA Pickworth, CK Yanovski, SZ Yanovski, JA AF Shank, Lisa M. Tanofsky-Kraff, Marian Kelly, Nichole R. Schvey, Natasha A. Marwitz, Shannon E. Mehari, Rim D. Brady, Sheila M. Demidowich, Andrew P. Broadney, Miranda M. Galescu, Ovidiu A. Pickworth, Courtney K. Yanovski, Susan Z. Yanovski, Jack A. TI Pediatric Loss of Control Eating and High-Sensitivity C-Reactive Protein Concentrations SO CHILDHOOD OBESITY LA English DT Article DE loss of control eating; binge eating; inflammatory markers; inflammation; high-sensitivity C-reactive protein ID CARDIOVASCULAR RISK-FACTORS; BODY-FAT; METABOLIC SYNDROME; CHILDHOOD OBESITY; ADULT OBESITY; NORMAL-WEIGHT; DIET QUALITY; CHILDREN; INFLAMMATION; DEPRESSION AB Background: Loss of control (LOC) eating in youth is associated with excess body weight and adiposity. After adjusting for fat mass, youth with LOC eating have higher blood pressure and higher low-density lipoprotein cholesterol compared to youth without LOC eating. Increased inflammation may account for this relationship, although few data have examined this hypothesis. Therefore, this study explored the association between LOC eating and high-sensitivity C-reactive protein (hsCRP), a marker of inflammation. Methods: We investigated hsCRP concentrations in relation to LOC eating in a convenience sample of 194 youth (age 14.3 +/- 2.1 years; 63.9% female; BMI-z 1.64 +/- 1.06). The presence of LOC eating in the past month was assessed by the Eating Disorder Examination interview. Serum hsCRP was measured by enzyme-linked immunosorbent assay. Adiposity was measured by air displacement plethysmography or dual-energy x-ray absorptiometry. We compared hsCRP in those with and without LOC eating in analyses accounting for sex, adiposity, height, depressive symptoms, and eating psychopathology. Results: Youth with LOC eating had significantly greater hsCRP than youth without LOC eating (p=0.02), after accounting for all covariates. The number of LOC eating episodes in the past month was positively associated with hsCRP (p=0.01). The relationship between LOC eating and hsCRP was not mediated by depressive symptoms or eating psychopathology (ps > 0.05). Conclusions: Youth with disinhibited eating may manifest increased chronic inflammation. Those with LOC eating may be an important subgroup at risk for adverse health outcomes associated with both chronic inflammation and obesity. Future research should examine whether hsCRP concentrations mediate the relationship between LOC eating and its association with cardiometabolic risk. C1 [Shank, Lisa M.; Tanofsky-Kraff, Marian; Kelly, Nichole R.; Schvey, Natasha A.; Marwitz, Shannon E.; Mehari, Rim D.; Brady, Sheila M.; Demidowich, Andrew P.; Broadney, Miranda M.; Galescu, Ovidiu A.; Pickworth, Courtney K.; Yanovski, Susan Z.; Yanovski, Jack A.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Growth & Obes, Div Translat Med, NIH,DHHS, Bethesda, MD USA. [Shank, Lisa M.; Tanofsky-Kraff, Marian; Kelly, Nichole R.; Schvey, Natasha A.] Uniformed Serv Univ Hlth Sci, Dept Med & Clin Psychol, DoD, Bethesda, MD 20814 USA. [Yanovski, Susan Z.] NIDDK, Off Obes Res, Div Digest Dis & Nutr, NIH,DHHS, Bethesda, MD 20892 USA. RP Yanovski, JA (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Sect Growth & Obes, Div Translat Med, NIH,DHHS,Hatfield Clin Res Ctr, Room 1-3330,10 Ctr Dr, Bethesda, MD 20892 USA. EM jy15i@nih.gov FU Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH [1ZIAHD000641]; NIMHD; OBSSR; National Institute of Child Health and Human Development [1F32HD056762]; Uniformed Services University of the Health Sciences [R072IC] FX Funding for this study was provided by the Intramural Research Program, Eunice Kennedy Shriver National Institute of Child Health and Human Development, NIH, grant 1ZIAHD000641 with supplemental funding from NIMHD and OBSSR (to J.A.Y.), National Research Service Award 1F32HD056762 from the National Institute of Child Health and Human Development; and Uniformed Services University of the Health Sciences grant R072IC (to M.T.-K.). No funding sources had any role in the study design, collection, analysis, or interpretation of the data, writing the article, or the decision to submit the article for publication. NR 68 TC 0 Z9 0 U1 1 U2 1 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 2153-2168 EI 2153-2176 J9 CHILD OBES JI Child Obes. PD FEB PY 2017 VL 13 IS 1 BP 1 EP 8 DI 10.1089/chi.2016.0199 PG 8 WC Pediatrics SC Pediatrics GA EL3FQ UT WOS:000394505400001 PM 27732055 ER PT J AU von Knobelsdorff-Brenkenhoff, F Schuler, J Doganguzel, S Dieringer, MA Rudolph, A Greiser, A Kellman, P Schulz-Menger, J AF von Knobelsdorff-Brenkenhoff, Florian Schueler, Johannes Doganguezel, Serkan Dieringer, Matthias A. Rudolph, Andre Greiser, Andreas Kellman, Peter Schulz-Menger, Jeanette TI Detection and Monitoring of Acute Myocarditis Applying Quantitative Cardiovascular Magnetic Resonance SO CIRCULATION-CARDIOVASCULAR IMAGING LA English DT Article DE edema; fibrosis; magnetic resonance; mapping; myocarditis ID DIAGNOSTIC PERFORMANCE; VIRAL MYOCARDITIS; EUROPEAN-SOCIETY; WORKING GROUP; CMR; EDEMA; HEART; T-1; QUANTIFICATION; STATEMENT AB Background-Cardiovascular magnetic resonance based on the Lake Louise Criteria is used to make the diagnosis of acute myocarditis. Novel quantitative parametric mapping techniques promise to overcome some of its limitations. We aimed to evaluate quantitative cardiovascular magnetic resonance to detect and monitor acute myocarditis. Methods and Results-Eighteen patients with clinical diagnosis of acute myocarditis (25 years [23-38 years]; 78% males) were prospectively enrolled and repeatedly underwent cardiovascular magnetic resonance at 1.5 T seven days (5-10 days) after symptom onset (FU0), after 5 weeks (FU1), and after 6 months (FU2). Eighteen age-and sex-matched healthy subjects served as controls. Cardiovascular magnetic resonance included imaging of edema, hyperemia, necrosis, and fibrosis using semiquantitative T2-weighted spin echo, T2 mapping, and T1 mapping before and 3 and 10 minutes after gadobutrol administration. Extracellular volume for diffuse and late gadolinium enhancement for focal fibrosis were assessed. Compared with controls, patients had significantly higher global T2 times at FU0 (55.1 ms [53.3-57.2 ms] versus 50.2 ms [49.2-52.0 ms]; P<0.001) and at FU1 (52.0 ms [52.0-53.2 ms]; P=0.007), which normalized at FU2 (50.9 ms [49.6-53.3 ms]; P=0.323). Global native T1 times in patients were elevated acutely (1004 ms [988-1048 ms] versus 975 ms [957-1004 ms]; P=0.002) and remained elevated throughout the follow-up (FU1: 998 ms [990-1027 ms]; P=0.014; FU2: 1000 ms [972-1027 ms]; P=0.044). Global extracellular volume fraction was statistically not different between patients and controls (P=0.057). 77.8% (14/18) of patients had focal late gadolinium enhancement. T2 ratio was significantly elevated in patients with myocarditis at FU0 (2.2 [2.0-2.3] versus 1.6 [1.5-1.7]; P<0.001). The difference decreased during follow-up (FU1: 1.9 [1.7-1.9]; P=0.001 and FU2: 1.7 [1.7-1.8]; P=0.053). The diagnostic accuracy to discriminate between patients with acute myocarditis and healthy controls was 86% for T2>52 ms, 78% for native T1>981 ms, 74% for extracellular volume fraction >0.24, and 100% for T2 ratio >1.9. Conclusions-Although both T2 and T1 mapping reliably detected acute myocarditis, only T2 mapping discriminated between acute and healed stages, underlining the incremental value of T2 mapping. C1 [von Knobelsdorff-Brenkenhoff, Florian; Schueler, Johannes; Doganguezel, Serkan; Rudolph, Andre; Schulz-Menger, Jeanette] Joint Cooperat Charite Med Fac & Max Delbrueck Ct, Expt & Clin Res Ctr, Working Grp Cardiovasc Magnet Resonance, Berlin, Germany. [von Knobelsdorff-Brenkenhoff, Florian; Schueler, Johannes; Doganguezel, Serkan; Rudolph, Andre; Schulz-Menger, Jeanette] HELIOS Klinikum Berlin Buch, Dept Cardiol & Nephrol, Berlin, Germany. [von Knobelsdorff-Brenkenhoff, Florian] Clin Agatharied, Ludwig Maximilians Univ Munich, Dept Cardiol, Clin Agatharied, Hausham, Germany. [Dieringer, Matthias A.; Greiser, Andreas] Siemens Healthcare, Erlangen, Germany. [Kellman, Peter] NIH, Bldg 10, Bethesda, MD 20892 USA. [Schulz-Menger, Jeanette] German Ctr Cardiovasc Res DZHK, Partner Site, Berlin, Germany. RP Schulz-Menger, J (reprint author), Charite Med Fac Berlin, Expt & Clin Res Ctr, Working Grp Cardiovasc Magnet Resonance, Lindenberger Weg 80, D-13125 Berlin, Germany.; Schulz-Menger, J (reprint author), HELIOS Clin Berlin Buch, Dept Cardiol & Nephrol, D-13125 Berlin, Germany. EM jeanette.schulz-menger@charite.de FU Charite FX Dr Schulz-Menger, medical faculty of the Humboldt University Berlin, was financially supported by research funds of the Charite. NR 31 TC 1 Z9 1 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1941-9651 EI 1942-0080 J9 CIRC-CARDIOVASC IMAG JI Circ.-Cardiovasc. Imaging PD FEB PY 2017 VL 10 IS 2 AR e005242 DI 10.1161/CIRCIMAGING.116.005242 PG 11 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA EL3PA UT WOS:000394530100003 ER PT J AU Zemrak, F Ambale-Venkatesh, B Captur, G Chrispin, J Chamera, E Habibi, M Nazarian, S Mohiddin, SA Moon, JC Petersen, SE Lima, JAC Bluemke, DA AF Zemrak, Filip Ambale-Venkatesh, Bharath Captur, Gabriella Chrispin, Jonathan Chamera, Ela Habibi, Mohammadali Nazarian, Saman Mohiddin, Saidi A. Moon, James C. Petersen, Steffen E. Lima, Joao A. C. Bluemke, David A. TI Left Atrial Structure in Relationship to Age, Sex, Ethnicity, and Cardiovascular Risk Factors MESA (Multi-Ethnic Study of Atherosclerosis) SO CIRCULATION-CARDIOVASCULAR IMAGING LA English DT Article DE body surface area; magnetic resonance imaging ID STATE FREE PRECESSION; ACUTE MYOCARDIAL-INFARCTION; MAGNETIC-RESONANCE; HEART-FAILURE; EJECTION FRACTION; PROGNOSTIC VALUE; DILATED CARDIOMYOPATHY; NORMAL VALUES; YOUNG-ADULTS; VOLUME AB Background-Left atrial (LA) size is a marker of diastolic function and is associated with atrial fibrillation and cardiovascular outcomes. However, there are no large population studies measuring LA structure. The relationship of demographics and cardiovascular risk factors to LA size is largely unknown. This study aimed to determine associations of LA size with demographic factors, cardiac structure and function, and cardiovascular risk factors. Methods and Results-LA volume indexed to body surface area was measured by cardiovascular magnetic resonance steady-state free precession and fast gradient echo cine long-and short-axis images in 2576 asymptomatic participants of MESA ([Multi-Ethnic Study of Atherosclerosis] 68.7 years, 53.0% women, white 42.2%, Chinese American 12.0%, black 24.5%, and Hispanic 21.2%) using biplane and short-axis images. The mean LA volume index was 36.5 +/- 11.4 mL/m(2) in the entire cohort and 35.5 +/- 10.1 mL/m(2) in subjects free of cardiovascular risk factors (n=283). Multivariable analysis included adjustment for demographics, ethnicity, cardiovascular risk factors, serological studies, socioeconomic status, left ventricular structure, and medications. In the adjusted analysis, age (beta=0.2 mL/m(2) per year, P<0.0001), male sex (beta=-4.2 mL/m(2), P<0.0001), obesity (beta=1.3 mL/m(2), P<0.01), end-diastolic volume index (beta=0.4 mL/m(2), P<0.0001), Chinese American (beta=-2.6 mL/m(2), P<0.0001), and Hispanic (beta=1.1 mL/m(2), P<0.05) ethnicities were associated with LA volume index. Diabetes mellitus and smoking were not associated with LA volume index. LA volumes measured by steady-state free precession were 3% larger than by fast gradient echo cine cardiovascular magnetic resonance (P<0.001). Conclusions-Age, sex, ethnicity and left ventricular structural parameters were associated with LA size. Importantly, the study provides reference values of normal LA volume index. C1 [Zemrak, Filip; Mohiddin, Saidi A.; Petersen, Steffen E.] Queen Mary Univ London, Barts Heart Ctr, Ctr Adv Cardiovasc Imaging, London, England. [Ambale-Venkatesh, Bharath; Chrispin, Jonathan; Chamera, Ela; Habibi, Mohammadali; Nazarian, Saman; Lima, Joao A. C.] Johns Hopkins Univ Hosp, Div Cardiol, Dept Med, Baltimore, MD USA. [Captur, Gabriella; Moon, James C.] UCL, Inst Cardiovasc Sci, London WC1E 6BT, England. [Bluemke, David A.] NIH, Ctr Clin, Dept Radiol & Imaging Sci, Bethesda, MD 20892 USA. RP Bluemke, DA (reprint author), Natl Inst Biomed Imaging & Engn, Dept Radiol & Imaging Sci, NIH, Ctr Clin, 10 Ctr Dr,Room 1C355, Bethesda, MD 20892 USA. EM bluemked@nih.gov FU National Heart, Lung, and Blood Institute [N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, N01-HC-95169]; National Center for Research Resources [UL1-TR-000040, UL1-TR-001079]; National Institute for Health Research Cardiovascular Biomedical Research Unit at Barts; Farr Institute of Health Informatics Research at University College London Partners from the Medical Research Council; Arthritis Research United Kingdom; British Heart Foundation; Cancer Research United Kingdom; Economic and Social Research Council; Engineering and Physical Sciences Research Council; National Institute of Health Research; National Institute for Social Care and Health Research (Welsh Assembly Government); Chief Scientist Office (Scottish Government Health Directorates); Wellcome Trust [MR/K006584/1] FX This research was supported by contracts N01-HC-95159, N01-HC-95160, N01-HC-95161, N01-HC-95162, N01-HC-95163, N01-HC-95164, N01-HC-95165, N01-HC-95166, N01-HC-95167, N01-HC-95168, and N01-HC-95169 from the National Heart, Lung, and Blood Institute and by grants UL1-TR-000040 and UL1-TR-001079 from the National Center for Research Resources. Drs Petersen, Zemrak, and Mohiddin gratefully acknowledge funding from the National Institute for Health Research Cardiovascular Biomedical Research Unit at Barts. Dr Petersen work is supported by awards establishing the Farr Institute of Health Informatics Research at University College London Partners from the Medical Research Council, in partnership with Arthritis Research United Kingdom, the British Heart Foundation, Cancer Research United Kingdom, the Economic and Social Research Council, the Engineering and Physical Sciences Research Council, the National Institute of Health Research, the National Institute for Social Care and Health Research (Welsh Assembly Government), the Chief Scientist Office (Scottish Government Health Directorates), and the Wellcome Trust (MR/K006584/1). NR 31 TC 1 Z9 1 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1941-9651 EI 1942-0080 J9 CIRC-CARDIOVASC IMAG JI Circ.-Cardiovasc. Imaging PD FEB PY 2017 VL 10 IS 2 AR e005379 DI 10.1161/CIRCIMAGING.116.005379 PG 17 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA EL3PA UT WOS:000394530100006 ER PT J AU Apolo, AB Karzai, FH Trepel, JB Alarcon, S Lee, S Lee, MJ Tomita, Y Cao, L Yu, YK Merino, MJ Madan, RA Parnes, HL Steinberg, SM Rodriguez, BW Seon, BK Gulley, JL Arlen, PM Dawson, NA Figg, WD Dahut, WL AF Apolo, Andrea B. Karzai, Fatima H. Trepel, Jane B. Alarcon, Sylvia Lee, Sunmin Lee, Min-Jung Tomita, Yusuke Cao, Liang Yu, Yunkai Merino, Maria J. Madan, Ravi A. Parnes, Howard L. Steinberg, Seth M. Rodriguez, Beatriz Walter Seon, Ben K. Gulley, James L. Arlen, Philip M. Dawson, Nancy A. Figg, William D. Dahut, William L. TI A Phase II Clinical Trial of TRC105 (Anti-Endoglin Antibody) in Adults With Advanced/Metastatic Urothelial Carcinoma SO CLINICAL GENITOURINARY CANCER LA English DT Article DE Advanced urothelial cancer; Antiangiogenic therapy; CD105; Immune subsets; Metastatic urothelial cancer; Urothelial cancer ID CIRCULATING TUMOR-CELLS; REGULATORY T-CELLS; METASTATIC BLADDER-CANCER; ENDOTHELIAL GROWTH-FACTOR; TGF-BETA; SOLID TUMORS; MONOCLONAL-ANTIBODIES; PROSTATE-CANCER; CD105 ANTIBODY; EXPRESSION AB TRC105 is a chimeric monoclonal antibody that targets CD105 (endoglin). Heavily pretreated patients with metastatic urothelial carcinoma received TRC105 at 15 mg/m(2) every 2 weeks on a 28-day cycle. Treatment was not associated with significant toxicities, but did not improve 6-month progression-free survival. Exploratory analyses suggest interplay between immunosuppressive subsets and TRC105, which warrants further study. Background: In this trial we assessed the efficacy and tolerability of TRC105, a chimeric monoclonal antibody that targets CD105 (endoglin) in patients with advanced, previously treated urothelial carcinoma (UC). Patients and Methods: Patients received TRC105 15 mg/kg every 2 weeks on days 1 and 15 of each 28-day cycle. The primary end point was progression-free survival (PFS) at 6 months. Secondary end points included safety, toxicity, and overall survival (OS). CD105 expression was evaluated using immunohistochemistry (IHC) in a separate cohort of 50 UC patients. Biomarker studies included immune subsets, circulating tumor cells (CTCs), circulating endothelial cells (CECs), circulating endothelial progenitor cells (CEPS), and osteopontin. Results: Of 13 patients enrolled, 12 were evaluable for OS and PFS. The 3-month PFS probability was 18.2% (median PFS, 1.9 months [95% confidence interval (Cl), 1.8-2.1 months). This met the criterion for ending accrual on the basis of the 2-stage design. Median OS was 8.3 months (95% CI, 3.3-17.0 months). IHC for CD105 scores was not associated with T stage (P = .26) or presence of lymph nodes (P = .64). Baseline levels of regulatory T and B cells,,CEPs, and changes in CEC level after TRC105 exhibited trends toward an association with PFS or OS. CTCs pre- and post-TRC105 were detected in 4 of 4 patients. Conclusion: Although TRC105 was well tolerated, it did not improve 6-month PFS in heavily pretreated patients with advanced UC. CD105 staining was present in 50% of UC tumors at different intensities. Our observations on the pharmacodynamic significance of immune subsets, CECs, and CTCs warrant further study.(C) 2016 Elsevier Inc. All rights reserved. C1 [Apolo, Andrea B.; Karzai, Fatima H.; Madan, Ravi A.; Parnes, Howard L.; Gulley, James L.; Arlen, Philip M.; Figg, William D.; Dahut, William L.] NCI, Genitourinary Malignancies Branch, Ctr Canc Res, NIH, 10 Ctr Dr,12N226,MSC 1906, Bethesda, MD 20892 USA. [Trepel, Jane B.; Alarcon, Sylvia; Lee, Sunmin; Lee, Min-Jung; Tomita, Yusuke] NCI, Dev Therapeut Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Cao, Liang; Yu, Yunkai] NCI, Genet Branch, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Merino, Maria J.; Rodriguez, Beatriz Walter] NCI, Pathol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Steinberg, Seth M.] NCI, Biostat & Data Management Sect, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Seon, Ben K.] Roswell Pk Canc Inst, Buffalo, NY 14263 USA. [Dawson, Nancy A.] Medstar Georgetown Univ Hosp, Lombardi Comprehens Canc Ctr, Washington, DC USA. RP Apolo, AB (reprint author), NCI, Genitourinary Malignancies Branch, Ctr Canc Res, NIH, 10 Ctr Dr,12N226,MSC 1906, Bethesda, MD 20892 USA. EM andrea.apolo@nih.gov FU Intramural Research Program of the Center for Cancer Research, NCI, National Institutes of Health; TRACON Pharmaceuticals Inc, San Diego, California FX This work was supported by the Intramural Research Program of the Center for Cancer Research, NCI, National Institutes of Health, and TRACON Pharmaceuticals Inc, San Diego, California. NR 59 TC 1 Z9 1 U1 0 U2 0 PU CIG MEDIA GROUP, LP PI DALLAS PA 3500 MAPLE AVENUE, STE 750, DALLAS, TX 75219-3931 USA SN 1558-7673 EI 1938-0682 J9 CLIN GENITOURIN CANC JI Clin. Genitourin. Cancer PD FEB PY 2017 VL 15 IS 1 BP 77 EP 85 DI 10.1016/j.clgc.2016.05.010 PG 9 WC Oncology; Urology & Nephrology SC Oncology; Urology & Nephrology GA EL5AF UT WOS:000394633100010 PM 27328856 ER PT J AU Zhang, Q Freidlin, B Korn, EL Halabi, S Mandrekar, S Dignam, JJ AF Zhang, Qiang Freidlin, Boris Korn, Edward L. Halabi, Susan Mandrekar, Sumithra Dignam, James J. TI Comparison of futility monitoring guidelines using completed phase III oncology trials SO CLINICAL TRIALS LA English DT Article DE Futility monitoring; oncology; clinical trials; conditional power; repeated confidence intervals; testing alternative hypothesis; linear inefficacy boundary ID CELL LUNG-CANCER; LEUKEMIA GROUP-B; RANDOMIZED CONTROLLED-TRIAL; REFRACTORY PROSTATE-CANCER; LOW-GRADE GLIOMA; RADIATION-THERAPY; CLINICAL-TRIAL; BRAIN METASTASES; COLON-CANCER; ADJUVANT CHEMOTHERAPY AB Background: Futility (inefficacy) interim monitoring is an important component in the conduct of phase III clinical trials, especially in life-threatening diseases. Desirable futility monitoring guidelines allow timely stopping if the new therapy is harmful or if it is unlikely to demonstrate to be sufficiently effective if the trial were to continue to its final analysis. There are a number of analytical approaches that are used to construct futility monitoring boundaries. The most common approaches are based on conditional power, sequential testing of the alternative hypothesis, or sequential confidence intervals. The resulting futility boundaries vary considerably with respect to the level of evidence required for recommending stopping the study. Purpose: We evaluate the performance of commonly used methods using event histories from completed phase III clinical trials of the Radiation Therapy Oncology Group, Cancer and Leukemia Group B, and North Central Cancer Treatment Group. Methods: We considered published superiority phase III trials with survival endpoints initiated after 1990. There are 52 studies available for this analysis from different disease sites. Total sample size and maximum number of events (statistical information) for each study were calculated using protocol-specified effect size, type I and type II error rates. In addition to the common futility approaches, we considered a recently proposed linear inefficacy boundary approach with an early harm look followed by several lack-of-efficacy analyses. For each futility approach, interim test statistics were generated for three schedules with different analysis frequency, and early stopping was recommended if the interim result crossed a futility stopping boundary. For trials not demonstrating superiority, the impact of each rule is summarized as savings on sample size, study duration, and information time scales. Results: For negative studies, our results show that the futility approaches based on testing the alternative hypothesis and repeated confidence interval rules yielded less savings (compared to the other two rules). These boundaries are too conservative, especially during the first half of the study (<50% of information). The conditional power rules are too aggressive during the second half of the study (>50% of information) and may stop a trial even when there is a clinically meaningful treatment effect. The linear inefficacy boundary with three or more interim analyses provided the best results. For positive studies, we demonstrated that none of the futility rules would have stopped the trials. Conclusion: The linear inefficacy boundary futility approach is attractive from statistical, clinical, and logistical standpoints in clinical trials evaluating new anti-cancer agents. C1 [Zhang, Qiang; Dignam, James J.] NRG Oncol, Stat & Data Management Ctr, Philadelphia, PA 19103 USA. [Zhang, Qiang] Univ Penn, Perelman Sch Med, Dept Biostat & Epidemiol, Philadelphia, PA 19104 USA. [Freidlin, Boris; Korn, Edward L.] NCI, Biometr Res Program, Bethesda, MD 20892 USA. [Halabi, Susan] Duke Univ, Med Ctr, Dept Biostat & Bioinformat, Durham, NC USA. [Mandrekar, Sumithra] Mayo Clin, Alliance Stat & Data Ctr, Div Biomed Stat & Informat, Rochester, MN USA. [Dignam, James J.] Univ Chicago, Dept Publ Hlth Sci, Chicago, IL 60637 USA. RP Zhang, Q (reprint author), NRG Oncol, Stat & Data Management Ctr, Philadelphia, PA 19103 USA. EM Zhangq@NRGOncology.org FU RTOG [U10 CA21661]; CCOP [U10 CA37422]; National Cancer Institute (NCI) [U10 CA180822, U10 CA180868]; CALGB [CA 155296, U10 CA33601]; United States Army Medical Research [W81XWH-15-1-0467]; National Cancer Institute to the North Central Cancer Treatment Group [CA25224]; Alliance for Clinical Trials in Oncology [CA31946]; Alliance Statistics and Data Center [CA33601]; Pennsylvania Department of Health [4100057652] FX This project was supported by RTOG grant U10 CA21661, CCOP grant U10 CA37422, NRG Oncology SDMC grant U10 CA180822, and NRG Oncology grant U10 CA180868 from the National Cancer Institute (NCI). This study was supported by CALGB grants CA 155296 and U10 CA33601 and United States Army Medical Research W81XWH-15-1-0467. This study was also supported, in part, by grants from the National Cancer Institute to the North Central Cancer Treatment Group (CA25224), to the Alliance for Clinical Trials in Oncology (Monica M. Bertagnolli, MD, Chair, CA31946), and to the Alliance Statistics and Data Center (Daniel J. Sargent, PhD, CA33601). This project is funded, in part, under grant 4100057652 from the Pennsylvania Department of Health, which specifically declaims responsibility for any analyses, interpretations, or conclusions. NR 74 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1740-7745 EI 1740-7753 J9 CLIN TRIALS JI Clin. Trials PD FEB PY 2017 VL 14 IS 1 BP 48 EP 58 DI 10.1177/1740774516666502 PG 11 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EL5HR UT WOS:000394652700005 PM 27590208 ER PT J AU Calis, KA Archdeacon, P Bain, RP Forrest, A Perlmutter, J DeMets, DL AF Calis, Karim A. Archdeacon, Patrick Bain, Raymond P. Forrest, Annemarie Perlmutter, Jane DeMets, David L. TI Understanding the functions and operations of data monitoring committees: Survey and focus group findings SO CLINICAL TRIALS LA English DT Article DE Data monitoring committee; clinical trial; interim analysis; statistical data interpretation; safety; benefit; futility AB Background: The use of data monitoring committees in the conduct of clinical trials has increased and evolved, but there is a lack of published information on when data monitoring committees are needed and utilized, the acceptable range of data monitoring committee practices, and appropriate qualifications of data monitoring committee members. Methods: To gain a better understanding of data monitoring committee operations and areas for improvement, the Clinical Trials Transformation Initiative conducted a survey and set of focus groups. A total of 143 respondents completed the online survey: 76 data monitoring committee members, 52 sponsors involved with organization of data monitoring committees, and 15 statistical data analysis center representatives. There were 42 focus group participants, including data monitoring committee members; patients and/or patient advocate data monitoring committee members; institutional review board and US Food and Drug Administration representatives; industry, government, and non-profit sponsors; and statistical data analysis center representatives. Results: Participants indicated that the primary responsibility of a data monitoring committee is to be an independent advisory body representing the interests of trial participants by assessing the risk and benefit ratio in ongoing trials. They noted that data monitoring committees must have access to unmasked data in order to perform this role. No clear consensus emerged regarding specific criteria for requiring a data monitoring committee for a given trial, and some participants felt data monitoring committees may be overused. Respondents offered suggestions for the data monitoring committee charter and communications with sponsors, institutional review boards, and regulators. Overall, data monitoring committee members reported that they are able to function independently and their recommendations are almost always accepted by the sponsor. Participants indicated that there are no standards or guidelines pertaining to qualifications of data monitoring committee members. Furthermore, only 8% (6/72) of data monitoring committee member survey respondents received any formal training, and 94% (68/72) were not aware of any training programs. Conclusion: Findings from the survey and focus groups provide a better understanding of contemporary data monitoring committee operations and insights regarding challenges and best practices. Overall, it was clear that increased training will be needed to prepare the next generation of qualified data monitoring committee members to meet the growing demand. These findings can be used by Clinical Trials Transformation Initiative and others to develop recommendations and tools to improve data monitoring committee operations and the overall quality of trial oversight. C1 [Calis, Karim A.; Archdeacon, Patrick] US FDA, Off Med Policy, Ctr Drug Evaluat & Res, Silver Spring, MD USA. [Calis, Karim A.] NICHHD, Off Clin Director, NIH, Bethesda, MD 20892 USA. [Bain, Raymond P.] Merck Res Labs, N Wales, PA USA. [Forrest, Annemarie] Clin Trials Transformat Initiat, 300 W Morgan St,Suite 800, Durham, NC 27701 USA. [Perlmutter, Jane] Gemini Grp, Ann Arbor, MI USA. [DeMets, David L.] Univ Wisconsin, Sch Med & Publ Hlth, Madison, WI USA. RP Forrest, A (reprint author), Clin Trials Transformat Initiat, 300 W Morgan St,Suite 800, Durham, NC 27701 USA. EM ctti@mc.duke.edu FU Food and Drug Administration [R18FD005292, U19FD003800]; CTTI FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: Funding for this manuscript was made possible, in part, by the Food and Drug Administration through grant R18FD005292 and cooperative agreement U19FD003800. Views expressed in publications do not necessarily reflect the official policies of the Department of Health and Human Services, nor does any mention of trade names, commercial practices, or organization imply endorsement by the US Government. Partial funding was also provided by pooled membership fees from CTTI's member organizations. NR 9 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1740-7745 EI 1740-7753 J9 CLIN TRIALS JI Clin. Trials PD FEB PY 2017 VL 14 IS 1 BP 59 EP 66 DI 10.1177/1740774516679665 PG 8 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EL5HR UT WOS:000394652700006 PM 27885056 ER PT J AU Hernon, KM Whitcomb, TL Davis, L Cooper, TK AF Hernon, Krista M. Whitcomb, Tiffany L. Davis, Lori Cooper, Timothy K. TI Presumptive Spontaneous Lysosomal Storage-Like Disease in a Crl:CD1(ICR) Mouse SO COMPARATIVE MEDICINE LA English DT Article ID NIEMANN-PICK-DISEASE; DEFICIENT MICE; SPHINGOMYELINASE; MODEL AB A clinically unremarkable 4.5-mo-old female Crl:CD1(ICR) VAF/Elite mouse was euthanized for scheduled sentinel processing. Gross necropsy findings included significant hepatosplenomegaly and visceral lymphadenomegaly, resulting in a preliminary gross diagnosis of lymphoma. Histology revealed florid accumulations of large, 'foamy' macrophages present in the bone marrow, small intestines, and viscera including liver, spleen, lymph nodes, thymus, uterus, and ovaries. The cytoplasm of these cells was abundant, stained pale blue with Wright Giemsa and was periodic acid Schiff positive. Given these characteristic gross and histologic findings, a spontaneous lysosomal storage-like disease was diagnosed in this mouse. Cholesterol ester storage disease is likely, because of the visceral involvement with sparing of the CNS, but could not be diagnosed definitively. To our knowledge, this report is the first to describe a case of spontaneous lysosomal storage disease in an outbred mouse of the CD1(ICR) background. C1 [Hernon, Krista M.; Whitcomb, Tiffany L.; Davis, Lori; Cooper, Timothy K.] Penn State Univ, Milton S Hershey Med Ctr, Coll Med, Dept Comparat Med, Hershey, PA 17033 USA. [Hernon, Krista M.] Allegheny Hlth Network, Res Inst, Preclin Hlth, Pittsburgh, PA USA. [Cooper, Timothy K.] NIAID, Charles River Labs, Ft Detrick, MD 21701 USA. RP Cooper, TK (reprint author), Penn State Univ, Milton S Hershey Med Ctr, Coll Med, Dept Comparat Med, Hershey, PA 17033 USA.; Cooper, TK (reprint author), NIAID, Charles River Labs, Ft Detrick, MD 21701 USA. EM tcooper@hmc.psu.edu NR 16 TC 0 Z9 0 U1 0 U2 0 PU AMER ASSOC LABORATORY ANIMAL SCIENCE PI MEMPHIS PA 9190 CRESTWYN HILLS DR, MEMPHIS, TN 38125 USA SN 1532-0820 J9 COMPARATIVE MED JI Comparative Med. PD FEB PY 2017 VL 67 IS 1 BP 28 EP 33 PG 6 WC Veterinary Sciences; Zoology SC Veterinary Sciences; Zoology GA EK7BD UT WOS:000394079600004 PM 28222836 ER PT J AU Stoff, DM Colosi, D Rubtsova, A Wingood, G AF Stoff, David M. Colosi, Deborah Rubtsova, Anna Wingood, Gina TI HIV and Aging Research in Women: An Overview (vol 13, pg 383, 2016) SO CURRENT HIV/AIDS REPORTS LA English DT Correction C1 [Stoff, David M.; Colosi, Deborah] Natl Inst Mental Hlth, Bethesda, MD USA. [Rubtsova, Anna] Emory Univ, Atlanta, GA USA. [Wingood, Gina] Columbia Univ, New York, NY USA. [Stoff, David M.; Colosi, Deborah] Natl Inst Mental Hlth, Bethesda, MD 20892 USA. [Rubtsova, Anna] Emory Univ, Atlanta, GA USA. [Wingood, Gina] Columbia Univ, New York, NY USA. RP Stoff, DM (reprint author), Natl Inst Mental Hlth, Bethesda, MD 20892 USA. EM dstoff@mail.nih.gov NR 1 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1548-3568 EI 1548-3576 J9 CURR HIV-AIDS REP JI Curr. Hiv/Aids Rep. PD FEB PY 2017 VL 14 IS 1 BP 39 EP 39 DI 10.1007/s11904-016-0344-6 PG 1 WC Infectious Diseases SC Infectious Diseases GA EM2RH UT WOS:000395162800006 PM 28083788 ER PT J AU de Graaf, M Beck, R Caccio, SM Duim, B Fraaij, PLA Le Guyader, FS Lecuit, M Le Pendu, J de Wit, E Schultsz, C AF de Graaf, Miranda Beck, Relja Caccio, Simone M. Duim, Birgitta Fraaij, Pieter L. A. Le Guyader, Francoise S. Lecuit, Marc Le Pendu, Jacques de Wit, Emmie Schultsz, Constance TI Sustained fecal-oral human-to-human transmission following a zoonotic event SO CURRENT OPINION IN VIROLOGY LA English DT Article ID ENTERICA SEROVAR TYPHIMURIUM; ACUTE RESPIRATORY SYNDROME; HEPATITIS-E VIRUS; INTESTINAL MICROBIOTA; INFLUENZA-VIRUS; INFECTION; HOST; CORONAVIRUS; SALMONELLA; OUTBREAK AB Bacterial, viral and parasitic zoonotic pathogens that transmit via the fecal-oral route have a major impact on global health. However, the mechanisms underlying the emergence of such pathogens from the animal reservoir and their persistence in the human population are poorly understood. Here, we present a framework of human-to-human transmission of zoonotic pathogens that considers the factors relevant for fecal-oral human-to-human transmission route at the levels of host, pathogen, and environment. We discuss current data gaps and propose future research directions. C1 [de Graaf, Miranda; Fraaij, Pieter L. A.] Erasmus MC, Dept Virosci, Rotterdam, Netherlands. [Beck, Relja] Croatian Vet Inst, Dept Bacteriol & Parasitol, Zagreb, Croatia. [Caccio, Simone M.] Ist Super Sanita, Dept Infect Dis, Rome, Italy. [Duim, Birgitta] Univ Utrecht, Fac Vet Med, Dept Infect Dis & Immunol, Utrecht, Netherlands. [Duim, Birgitta] WHO Collaborating Ctr Campylobacter, Utrecht, Netherlands. [Fraaij, Pieter L. A.] Erasmus Med Ctr Sophia, Dept Pediat, Rotterdam, Netherlands. [Le Guyader, Francoise S.] Ifremer, Microbiol Lab, Nantes, France. [Lecuit, Marc] Inst Pasteur, INSERM U1117, Biol Infect Unit, Paris, France. [Lecuit, Marc] Paris Descartes Univ, Necker Enfants Malades Univ Hosp, Assistance Publ Hop Paris, Necker Pasteur Ctr Infectiol,Inst Imagine, Sorbonne Paris Cite, Paris, France. [Le Pendu, Jacques] Univ Nantes, CNRS, INSERM, Nantes, France. [de Wit, Emmie] Natl Inst Hlth, Natl Inst Allergy & Infect Dis, Virol Lab, Hamilton, MT USA. [Schultsz, Constance] Acad Med Ctr, Dept Global Hlth, Amsterdam, Netherlands. [Schultsz, Constance] Acad Med Ctr, Dept Med Microbiol, Amsterdam, Netherlands. RP Schultsz, C (reprint author), Acad Med Ctr, Dept Global Hlth, Amsterdam, Netherlands.; Schultsz, C (reprint author), Acad Med Ctr, Dept Med Microbiol, Amsterdam, Netherlands. EM schultsz@gmail.com FU ANTIGONE [278976]; Intramural Research Program of the National Institute of Allergy and Infectious Diseases, US National Institutes of Health; EU FP7 project PREPARE [602525]; EU grant COMPARE [643476]; Virgo Consortium; Dutch government [FES0908] FX The authors would like to thank all participants of the Dahlem 'Inter human barriers' workshop for their contributions and Ryan Kissinger (NIAID, NIH) for designing the figures. This work was supported by ANTIGONE (grant numbers 278976); EdW is supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, US National Institutes of Health; PF receives funding from the EU FP7 project PREPARE (grant number 602525); MdG is supported by the EU grant COMPARE (grant number 643476) and the Virgo Consortium, funded by the Dutch government (project number FES0908). NR 47 TC 0 Z9 0 U1 2 U2 2 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1879-6257 J9 CURR OPIN VIROL JI Curr. Opin. Virol. PD FEB PY 2017 VL 22 BP 1 EP 6 DI 10.1016/j.coviro.2016.11.001 PG 6 WC Virology SC Virology GA EP4UB UT WOS:000397374300003 PM 27888698 ER PT J AU Richard, M Knauf, S Lawrence, P Mather, AE Munster, VJ Muller, MA Smith, D Kuiken, T AF Richard, Mathilde Knauf, Sascha Lawrence, Philip Mather, Alison E. Munster, Vincent J. Mueller, Marcel A. Smith, Derek Kuiken, Thijs TI Factors determining human-to-human transmissibility of zoonotic pathogens via contact SO CURRENT OPINION IN VIROLOGY LA English DT Article ID RESPIRATORY SYNDROME CORONAVIRUS; VIRULENT TREPONEMA-PALLIDUM; EBOLA-VIRUS TRANSMISSION; DIPEPTIDYL PEPTIDASE 4; FUNCTIONAL RECEPTOR; HIV-1 INFECTION; SARS CORONAVIRUS; HOST PROTEINS; EVOLUTION; TETHERIN AB The pandemic potential of zoonotic pathogens lies in their ability to become efficiently transmissible amongst humans. Here, we focus on contact-transmitted pathogens and discuss the factors, at the pathogen, host and environmental levels that promote or hinder their human-to-human transmissibility via the following modes of contact transmission: skin contact, sexual contact, respiratory contact and multiple route contact. Factors common to several modes of transmission were immune evasion, high viral load, low infectious dose, crowding, promiscuity, and co-infections; other factors were specific for a pathogen or mode of contact transmission. The identification of such factors will lead to a better understanding of the requirements for human-to-human spread of pathogens, as well as improving risk assessment of newly emerging pathogens. C1 [Richard, Mathilde; Kuiken, Thijs] Erasmus MC, Postgrad Sch Mol Med, Dept Virosci, Rotterdam, Netherlands. [Knauf, Sascha] Leibniz lnst Primate Res, German Primate Ctr, Work Grp Neglected Trop Dis, Gottingen, Germany. [Lawrence, Philip] Univ Lyon, Univ Cathol Lyon EPHE, UMRS 449, Lab Biol Gen, F-69288 Lyon, France. [Lawrence, Philip] Univ Lyon 1, Ecole Normale Super Lyon, Int Ctr Res Infectiol CIRI, INSERM U1111 CNRS UMR5308,Mol Basis Viral Pathoge, F-69007 Lyon, France. [Mather, Alison E.] Univ Cambridge, Dept Vet Med, Cambridge, England. [Munster, Vincent J.] Natl Inst Hlth, Natl Inst Allergy & Infect Dis, Rocky Mt Labs,Virus Ecol Unit, Virol Lab,Div Intramural Res, Hamilton, MT USA. [Mueller, Marcel A.] Univ Bonn, Med Ctr, Inst Virol, Bonn, Germany. [Smith, Derek] Univ Cambridge, Dept Zool, Cambridge, England. RP Kuiken, T (reprint author), Erasmus MC, Postgrad Sch Mol Med, Dept Virosci, Rotterdam, Netherlands. EM t.kuiken@erasmusmc.nl RI Knauf, Sascha/F-1661-2017; Richard, Mathilde/F-5461-2017 OI Knauf, Sascha/0000-0001-5744-4946; Richard, Mathilde/0000-0003-0240-9312 FU European FP7 programme ANTIGONE (ANTIcipating the Global Onset of Novel Epidemics) [278976]; NIAID/NIH [HHSN272201400008C]; grants of the German Research Foundation (DFG) [KN1097/3-1, KN1097/4-1]; Biotechnology and Biological Sciences Research Council (BBSRC) [BB/M014088/1]; Division of Intramural Research of the NIAID/NIH; Zoonoses Anticipation and Preparedness Initiative (ZAPI project) [115760] FX The expert workshop was financially supported by European FP7 programme ANTIGONE (ANTIcipating the Global Onset of Novel Epidemics, project number 278976). MR's research is partly supported by NIAID/NIH contract HHSN272201400008C. SK's research is partly supported by grants of the German Research Foundation (DFG): KN1097/3-1 and KN1097/4-1. AEM is supported by a Biotechnology and Biological Sciences Research Council (BBSRC) grant BB/M014088/1. VJM is supported by the Division of Intramural Research of the NIAID/NIH. Marcel A Muller is supported by the Zoonoses Anticipation and Preparedness Initiative (ZAPI project; IMI Grant Agreement no 115760 granted to Christian Drosten). NR 55 TC 0 Z9 0 U1 1 U2 1 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1879-6257 J9 CURR OPIN VIROL JI Curr. Opin. Virol. PD FEB PY 2017 VL 22 BP 7 EP 12 DI 10.1016/j.coviro.2016.11.004 PG 6 WC Virology SC Virology GA EP4UB UT WOS:000397374300004 PM 27907884 ER PT J AU Yewdell, JW Rimmelzwaan, GF AF Yewdell, Jonathan W. Rimmelzwaan, Guus F. TI Editorial overview: Viral immunology: Dealing with bad news SO CURRENT OPINION IN VIROLOGY LA English DT Editorial Material C1 [Yewdell, Jonathan W.] Natl Inst Allergy & Infect Dis, Viral Dis Lab, Bethesda, MD 20892 USA. [Rimmelzwaan, Guus F.] Erasmus MC, Dept Virosci, Rotterdam, Netherlands. RP Yewdell, JW (reprint author), Natl Inst Allergy & Infect Dis, Viral Dis Lab, Bethesda, MD 20892 USA. EM jyewdell@nih.gov; g.rimmelzwaan@erasmusmc.nl FU Division of Intramural Research, NIAID; European Commission (FP grant) [602604] FX Jonathan Yewdell is supported by the Division of Intramural Research, NIAID. Guus Rimmelzwaan received financial support from the European Commission (FP grant 602604). NR 6 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1879-6257 J9 CURR OPIN VIROL JI Curr. Opin. Virol. PD FEB PY 2017 VL 22 BP VIII EP X DI 10.1016/j.coviro.2017.02.002 PG 3 WC Virology SC Virology GA EP4UB UT WOS:000397374300002 PM 28279326 ER PT J AU Hickman, HD AF Hickman, Heather D. TI New insights into antiviral immunity gained through intravital imaging SO CURRENT OPINION IN VIROLOGY LA English DT Article ID CD8(+) T-CELLS; ANTIGEN-PRESENTING CELLS; LYMPH-NODES; SUBCAPSULAR SINUS; B-CELLS; RESPONSES; SKIN; INFECTION; MIGRATION; INNATE AB Viral infections pose an ongoing challenge for mankind. Much of our knowledge of the immune response to viral infections comes from ex vivo analyses of infected animals, which provide important yet static information about events occurring within the host. Recently, a relatively new technique known as intravital microscopy (IVM) has been applied to the study of antiviral immunity. Intravital imaging affords a unique, real-time view of both viral dynamics and the ensuing immune response (along with their interplay) in the living animal. This review details some of the newest observations about the antiviral immune response gained using IVM. C1 [Hickman, Heather D.] NIAID, Viral Dis Lab, NIH, Bethesda, MD 20892 USA. RP Hickman, HD (reprint author), NIAID, Viral Dis Lab, NIH, Bethesda, MD 20892 USA. EM hhickman@mail.nih.gov FU Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health FX This work was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health. NR 42 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 1879-6257 J9 CURR OPIN VIROL JI Curr. Opin. Virol. PD FEB PY 2017 VL 22 BP 59 EP 63 DI 10.1016/j.coviro.2016.11.010 PG 5 WC Virology SC Virology GA EP4UB UT WOS:000397374300011 PM 28081484 ER PT J AU Kathamuthu, GR Moideen, K Bhaskaran, D Sekar, G Sridhar, R Vidyajayanthi, B Gajendraraj, G Babu, S AF Kathamuthu, Gokul Raj Moideen, Kadar Bhaskaran, Dhanaraj Sekar, Gomathi Sridhar, Rathinam Vidyajayanthi, Bharathi Gajendraraj, Ganeshan Babu, Subash TI Reduced systemic and mycobacterial antigen-stimulated concentrations of IL-113 and IL-18 in tuberculous lymphadenitis SO CYTOKINE LA English DT Article DE Tuberculosis; Lymphadenitis; Cytokines ID INFECTION AB Background: Type 1, Type 17 and other pro-inflammatory cytokines are known to play an important role in resistance to pulmonary tuberculosis. The role of these cytokines in tuberculous lymphadenitis (TBL) is not well characterized. Methods: To estimate the systemic and mycobacterial antigen - stimulated cytokine concentrations of Type 1, Type 17, other pro-inflammatory and regulatory cytokines in TBL, we examined both the systemic and the antigen-specific concentrations of these cytokines in TBL (n = 31) before and after chemotherapy, and compared them with those with latent tuberculosis infection (LTB, n = 31). Results: We observed significantly reduced systemic concentrations of the pro-inflammatory cytokines IL-1 beta and IL-18 but not other Type 1 or Type 17 cytokines in TBL compared to LTB. Following standard anti-tuberculosis (TB) treatment, we observed a significant increase in the concentrations of both IL-1 beta and IL-18. In addition, we also observed significantly reduced baseline or mycobacterial - antigen or mitogen stimulated concentrations of IL-1 beta and IL-18 in TBL individuals. Similar to systemic cytokine concentrations, anti-TB treatment resulted in significantly increased concentrations of these cytokines following antigen stimulation. Conclusions: TBL is therefore, characterized by reduced systemic and antigen-specific concentrations of IL-1 beta and IL-18, which are reversible following anti-TB treatment, indicating that these cytokines are potential correlates of protective immunity in TBL. Published by Elsevier Ltd. C1 [Kathamuthu, Gokul Raj; Moideen, Kadar; Babu, Subash] Natl Inst Hlth, NIRT, Int Ctr Excellence Res, Chennai, Tamil Nadu, India. [Bhaskaran, Dhanaraj; Sekar, Gomathi] Natl Inst Res TB, Chennai, Tamil Nadu, India. [Sridhar, Rathinam] Govt Stanley Med Hosp, Chennai, Tamil Nadu, India. [Vidyajayanthi, Bharathi] Govt Kilpauk Med Hosp, Chennai, Tamil Nadu, India. [Gajendraraj, Ganeshan] Govt Gen Hosp, Chennai, Tamil Nadu, India. [Babu, Subash] NIAID, Parasit Dis Lab, NIH, Bethesda, MD USA. RP Babu, S (reprint author), Natl Inst Hlth, NIRT, Int Ctr Excellence Res, Chennai, Tamil Nadu, India. EM sbabu@mail.nih.gov FU Intramural NIH HHS [Z99 AI999999] NR 18 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS LTD- ELSEVIER SCIENCE LTD PI LONDON PA 24-28 OVAL RD, LONDON NW1 7DX, ENGLAND SN 1043-4666 EI 1096-0023 J9 CYTOKINE JI Cytokine PD FEB PY 2017 VL 90 BP 66 EP 72 DI 10.1016/j.cyto.2016.10.013 PG 7 WC Biochemistry & Molecular Biology; Cell Biology; Immunology SC Biochemistry & Molecular Biology; Cell Biology; Immunology GA EL1QM UT WOS:000394396100010 PM 27794266 ER PT J AU Huang, SYN Williams, JS Arana, ME Kunkel, TA Pommier, Y AF Huang, Shar-yin N. Williams, Jessica S. Arana, Mercedes E. Kunkel, Thomas A. Pommier, Yves TI Topoisomerase I-mediated cleavage at ribonucleotides generates DNA double-strand breaks SO EMBO JOURNAL LA English DT Article DE double-strand breaks; homologous recombination; ribonucleotide excision repair; RNase H2; topoisomerase I ID MAINTAIN GENOME INTEGRITY; RNASE H2; SACCHAROMYCES-CEREVISIAE; POLYMERASE-EPSILON; MISMATCH REPAIR; DNTP POOLS; S-PHASE; YEAST; REPLICATION; INSTABILITY AB Ribonuclease activity of topoisomerase I (Top1) causes DNA nicks bearing 2',3'-cyclic phosphates at ribonucleotide sites. Here, we provide genetic and biochemical evidence that DNA double-strand breaks (DSBs) can be directly generated by Top1 at sites of genomic ribonucleotides. We show that RNase H2-deficient yeast cells displayed elevated frequency of Rad52 foci, inactivation of RNase H2 and RAD52 led to synthetic lethality, and combined loss of RNase H2 and RAD51 induced slow growth and replication stress. Importantly, these phenotypes were rescued upon additional deletion of TOP1, implicating homologous recombination for the repair of Top1-induced damage at ribonuclelotide sites. We demonstrate biochemically that irreversible DSBs are generated by subsequent Top1 cleavage on the opposite strand from the Top1induced DNA nicks at ribonucleotide sites. Analysis of Top1-linked DNA from pull-down experiments revealed that Top1 is covalently linked to the end of DNA in RNase H2-deficient yeast cells, supporting this model. Taken together, these results define Top1 as a source of DSBs and genome instability when ribonucleotides incorporated by the replicative polymerases are not removed by RNase H2. C1 [Huang, Shar-yin N.; Pommier, Yves] NCI, Dev Therapeut Branch, Bethesda, MD 20892 USA. [Huang, Shar-yin N.; Pommier, Yves] NCI, Mol Pharmacol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. [Williams, Jessica S.; Arana, Mercedes E.; Kunkel, Thomas A.] NIEHS, Genome Integr & Struct Biol Lab, NIH, POB 12233, Res Triangle Pk, NC 27709 USA. RP Pommier, Y (reprint author), NCI, Dev Therapeut Branch, Bethesda, MD 20892 USA.; Pommier, Y (reprint author), NCI, Mol Pharmacol Lab, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM pommier@nih.gov FU Center for Cancer Research at National Cancer Institute [Z01 BC006161]; Division of Intramural Research of the NIEHS, NIEHS [Z01 ES065070] FX We thank Michael Lisby (University of Copenhagen) for the pWJ1344 plasmid expressing Rad52-YFP. We acknowledge the Fluorescence Microscopy and Imaging Center and the Cytometry Center at NIEHS for microscopy and FACS analysis, respectively. We are grateful to Jeff Tucker for assistance with microscopy analysis and Scott Lujan and Grace Kissling for statistical expertise. We thank Martin Zofall and Laura Baranello of NCI for sharing advice and experience on the pull-down assays. This work was supported by Project Z01 BC006161 to Y.P. from the Center for Cancer Research at National Cancer Institute and by Project Z01 ES065070 to T.A.K. from the Division of Intramural Research of the NIEHS, NIEHS. NR 61 TC 0 Z9 0 U1 2 U2 2 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0261-4189 EI 1460-2075 J9 EMBO J JI Embo J. PD FEB 1 PY 2017 VL 36 IS 3 BP 361 EP 373 DI 10.15252/embj.201592426 PG 13 WC Biochemistry & Molecular Biology; Cell Biology SC Biochemistry & Molecular Biology; Cell Biology GA EL2JC UT WOS:000394444900012 PM 27932446 ER PT J AU Cimino, AM Boyles, AL Thayer, KA Perry, MJ AF Cimino, Andria M. Boyles, Abee L. Thayer, Kristina A. Perry, Melissa J. TI Effects of Neonicotinoid Pesticide Exposure on Human Health: A Systematic Review SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Review ID SAN-JOAQUIN VALLEY; INSECTICIDES; FIPRONIL; RISKS; INVERTEBRATES; METABOLITES; ENVIRONMENT; CALIFORNIA; RECEPTORS; TOXICITY AB BACKGROUND: Numerous studies have identified detectable levels of neonicotinoids (neonics) in the environment, adverse effects of neonics in many species, including mammals, and pathways through which human exposure to neonics could occur, yet little is known about the human health effects of neonic exposure. Objective: In this systematic review, we sought to identify human population studies on the health effects of neonics. METHODS: Studies published in English between 2005 and 2015 were searched using PubMed, Scopus, and Web of Science databases. No restrictions were placed on the type of health outcome assessed. Risk of bias was assessed using guidance developed by the National Toxicology Program's Office of Health Assessment and Translation. RESULTS: Eight studies investigating the human health effects of exposure to neonics were identified. Four examined acute exposure: Three neonic poisoning studies reported two fatalities (n = 1,280 cases) and an occupational exposure study of 19 forestry workers reported no adverse effects. Four general population studies reported associations between chronic neonic exposure and adverse developmental or neurological outcomes, including tetralogy of Fallot (AOR 2.4, 95% CI: 1.1, 5.4), anencephaly (AOR 2.9, 95% CI: 1.0, 8.2), autism spectrum disorder [AOR 1.3, 95% credible interval (CrI): 0.78, 2.2], and a symptom cluster including memory loss and finger tremor (OR 14, 95% CI: 3.5, 57). Reported odds ratios were based on exposed compared to unexposed groups. CONCLUSIONS: The studies conducted to date were limited in number with suggestive but methodologically weak findings related to chronic exposure. Given the wide-scale use of neonics, more studies are needed to fully understand their effects on human health. C1 [Cimino, Andria M.; Perry, Melissa J.] George Washington Univ, Dept Environm & Occupat Hlth, Sch Publ Hlth, Milken Inst, 950 New Hampshire Ave,419 Floor 4, Washington, DC 20052 USA. [Boyles, Abee L.; Thayer, Kristina A.] NIEHS, Off Hlth Assessment & Translat, Div Natl Toxicol Program, NIH,Dept Hlth & Human Serv, Durham, NC USA. RP Perry, MJ (reprint author), George Washington Univ, Dept Environm & Occupat Hlth, Sch Publ Hlth, Milken Inst, 950 New Hampshire Ave,419 Floor 4, Washington, DC 20052 USA. EM mperry@email.gwu.edu NR 56 TC 1 Z9 1 U1 3 U2 3 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD FEB PY 2017 VL 125 IS 2 BP 155 EP 162 DI 10.1289/EHP515 PG 8 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA EK5ZF UT WOS:000394004000007 PM 27385285 ER PT J AU Miller, MF Goodson, WH Manjili, MH Kleinstreuer, N Bisson, WH Lowe, L AF Miller, Mark F. Goodson, William H., III Manjili, Masoud H. Kleinstreuer, Nicole Bisson, William H. Lowe, Leroy TI Low-Dose Mixture Hypothesis of Carcinogenesis Workshop: Scientific Underpinnings and Research Recommendations SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Review ID CANCER HALLMARK; ENVIRONMENTAL CHEMICALS; MECHANISMS; EXPOSURES; RISK; PROGRESSION; DISRUPTORS; EVASION; UPDATE; MODEL AB BACKGROUND: The current single-chemical-as-carcinogen risk assessment paradigm might underestimate or miss the cumulative effects of exposure to chemical mixtures, as highlighted in recent work from the Halifax Project. This is particularly important for chemical exposures in the low-dose range that may be affecting crucial cancer hallmark mechanisms that serve to enable carcinogenesis. OBJECTIVE: Could ongoing low-dose exposures to a mixture of commonly encountered environmental chemicals produce effects in concert that lead to carcinogenesis? A workshop held at the NIEHS in August 2015 evaluated the scientific support for the low-dose mixture hypothesis of carcinogenesis and developed a research agenda. Here we describe the science that supports this novel theory, identify knowledge gaps, recommend future methodologies, and explore preventative risk assessment and policy decision- making that incorporates cancer biology, environmental health science, translational toxicology, and clinical epidemiology. DISCUSSION AND CONCLUSIONS: The theoretical merits of the low-dose carcinogenesis hypothesis are well founded with clear biological relevance, and therefore, the premise warrants further investigation. Expert recommendations include the need for better insights into the ways in which noncarcinogenic constituents might combine to uniquely affect the process of cellular transformation (in vitro) and environmental carcinogenesis (in vivo), including investigations of the role of key defense mechanisms in maintaining transformed cells in a dormant state. The scientific community will need to acknowledge limitations of animal-based models in predicting human responses; evaluate biological events leading to carcinogenesis both spatially and temporally; examine the overlap between measurable cancer hallmarks and characteristics of carcinogens; incorporate epigenetic biomarkers, in silico modelling, high-performance computing and high-resolution imaging, microbiome, metabolomics, and transcriptomics into future research efforts; and build molecular annotations of network perturbations. The restructuring of many existing regulatory frameworks will require adequate testing of relevant environmental mixtures to build a critical mass of evidence on which to base policy decisions. C1 [Miller, Mark F.; Kleinstreuer, Nicole] NIEHS, NIH, Dept Hlth & Human Serv, POB 12233, Res Triangle Pk, NC 27709 USA. [Goodson, William H., III] Calif Pacific Med Ctr, Res Inst, San Francisco, CA USA. [Manjili, Masoud H.] Virginia Commonwealth Univ, Massey Canc Ctr, Dept Microbiol & Immunol, Richmond, VA USA. [Bisson, William H.] Oregon State Univ, Environm & Mol Toxicol, Corvallis, OR 97331 USA. [Lowe, Leroy] Getting Know Canc, Truro, NS, Canada. [Lowe, Leroy] Univ Lancaster, Lancaster Environm Ctr, Lancaster, England. RP Bisson, WH (reprint author), Oregon State Univ, Environm & Mol Toxicol, Corvallis, OR 97331 USA.; Miller, MF (reprint author), NIEHS, 111 TW Alexander Dr, Res Triangle Pk, NC 27709 USA. EM mark.miller2@nih.gov; bissonw@science.oregonstate.edu OI Kleinstreuer, Nicole/0000-0002-7914-3682 NR 46 TC 0 Z9 0 U1 1 U2 1 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD FEB PY 2017 VL 125 IS 2 BP 163 EP 169 DI 10.1289/EHP411 PG 7 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA EK5ZF UT WOS:000394004000008 PM 27517672 ER PT J AU Xie, Y Holmgren, S Andrews, DMK Wolfe, MS AF Xie, Yun Holmgren, Stephanie Andrews, Danica M. K. Wolfe, Mary S. TI Evaluating the Impact of the U. S. National Toxicology Program: A Case Study on Hexavalent Chromium SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Article ID CITATION; METRICS AB BACKGROUND: Evaluating the impact of federally funded research with a broad, methodical, and objective approach is important to ensure that public funds advance the mission of federal agencies. OBJECTIVES: We aimed to develop a methodical approach that would yield a broad assessment of National Toxicology Program's (NTP's) effectiveness across multiple sectors and demonstrate the utility of the approach through a case study. METHODS: A conceptual model was developed with defined activities, outputs (products), and outcomes (proximal, intermediate, distal) and applied retrospectively to NTP's research on hexavalent chromium (CrVI). Proximal outcomes were measured by counting views of and requests for NTP's products by external stakeholders. Intermediate outcomes were measured by bibliometric analysis. Distal outcomes were assessed through Web and LexisNexis searches for documents related to legislation or regulation changes. RESULTS: The approach identified awareness of NTP's work on CrVI by external stakeholders (proximal outcome) and citations of NTP's research in scientific publications, reports, congressional testimonies, and legal and policy documents (intermediate outcome). NTP's research was key to the nation's first-ever drinking water standard for CrVI adopted by California in 2014 (distal outcome). By applying this approach to a case study, the utility and limitations of the approach were-identified, including challenges to evaluating the outcomes of a research program. CONCLUSIONS: This study identified a broad and objective approach for assessing NTP's -effectiveness, including methodological needs for more thorough and efficient impact assessments in the future. C1 [Xie, Yun; Andrews, Danica M. K.; Wolfe, Mary S.] NIEHS, Div Natl Toxicol Program, NIH, Dept Hlth & Human Serv, POB 12233, Res Triangle Pk, NC 27709 USA. [Holmgren, Stephanie] NIEHS, Off Deputy Director, NIH, Dept Hlth & Human Serv, POB 12233, Res Triangle Pk, NC 27709 USA. [Xie, Yun] 530 Davis Dr,Room 2163, Morrisville, NC 27560 USA. RP Xie, Y (reprint author), NIEHS, POB 12233,Mail Drop K2-03, Res Triangle Pk, NC 27709 USA. EM xiey4@niehs.nih.gov NR 53 TC 0 Z9 0 U1 1 U2 1 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD FEB PY 2017 VL 125 IS 2 BP 181 EP 188 DI 10.1289/EHP21 PG 8 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA EK5ZF UT WOS:000394004000011 PM 27483499 ER PT J AU Little, MP McElvenny, DM AF Little, Mark P. McElvenny, Damien M. TI Male Breast Cancer Incidence and Mortality Risk in the Japanese Atomic Bomb Survivors -Differences in Excess Relative and Absolute Risk from Female Breast Cancer SO ENVIRONMENTAL HEALTH PERSPECTIVES LA English DT Article ID ANDROGEN RECEPTOR GENE; RADIATION; MUTATION; COHORT AB BACKGROUND: There are well-known associations of ionizing radiation with female breast cancer, and emerging evidence also for male breast cancer. In the United Kingdom, female breast cancer following occupational radiation exposure is among that set of cancers eligible for state compensation and consideration is currently being given to an extension to include male breast cancer. OBJECTIVES: We compare radiation-associated excess relative and absolute risks of male and female breast cancers. METHODS: Breast cancer incidence and mortality data in the Japanese atomic-bomb survivors were analyzed using relative and absolute risk models via Poisson regression. RESULTS: We observed significant (p =0.01) dose-related excess risk for male breast cancer incidence and mortality. For incidence and mortality data, there are elevations by factors of approximately 15 and 5, respectively, of relative risk for male compared with female breast cancer incidence, the former borderline significant (p =0.050). In contrast, for incidence and mortality data, there are elevations by factors of approximately 20 and 10, respectively, of female absolute risk compared with male, both statistically significant (p < 0.001). There are no indications of differences between the sexes in age/time-since-exposure/age-at-exposure modifications to the relative or absolute excess risk. The probability of causation of male breast cancer following radiation exposure exceeds by at least a factor of 5 that of many other malignancies. CONCLUSIONS: There is evidence of much higher radiation-associated relative risk for male than for female breast cancer, although absolute excess risks for males are much less than for females. However, the small number of male cases and deaths suggests a degree of caution in interpretation of this finding. C1 [Little, Mark P.] NCI, Radiat Epidemiol Branch, Div Canc Epidemiol & Genet, NIH,DHHS, Rockville, MD USA. [McElvenny, Damien M.] Inst Occupat Med, Edinburgh, Midlothian, Scotland. RP Little, MP (reprint author), NCI, Room 7E546,9609 Med Ctr Dr,MSC 9778, Bethesda, MD 20892 USA. EM mark.little@nih.gov FU Intramural Research Program of the National Institutes of Health, the National Cancer Institute, Division of Cancer Epidemiology and Genetics; Japanese Ministry of Health, Labour, and Welfare (MHLW); U.S. Department of Energy (DOE) [HS-DE0000031] FX This work was supported by the Intramural Research Program of the National Institutes of Health, the National Cancer Institute, Division of Cancer Epidemiology and Genetics. This report makes use of data obtained from the Radiation Effects Research Foundation RERF) in Hiroshima and Nagasaki, Japan. RERF is a private, nonprofit foundation funded by the Japanese Ministry of Health, Labour, and Welfare (MHLW) and the U.S. Department of Energy (DOE), the latter in part through DOE award HS-DE0000031 to the National Academy of Sciences. The data include information obtained from the Hiroshima City, Hiroshima Prefecture, Nagasaki City, and Nagasaki Prefecture Tumor Registries and the Hiroshima and Nagasaki Tissue Registries. NR 34 TC 0 Z9 0 U1 2 U2 2 PU US DEPT HEALTH HUMAN SCIENCES PUBLIC HEALTH SCIENCE PI RES TRIANGLE PK PA NATL INST HEALTH, NATL INST ENVIRONMENTAL HEALTH SCIENCES, PO BOX 12233, RES TRIANGLE PK, NC 27709-2233 USA SN 0091-6765 EI 1552-9924 J9 ENVIRON HEALTH PERSP JI Environ. Health Perspect. PD FEB PY 2017 VL 125 IS 2 BP 223 EP 229 DI 10.1289/EHP151 PG 7 WC Environmental Sciences; Public, Environmental & Occupational Health; Toxicology SC Environmental Sciences & Ecology; Public, Environmental & Occupational Health; Toxicology GA EK5ZF UT WOS:000394004000016 PM 27286002 ER PT J AU Sepeta, LN Casaletto, KB Terwilliger, V Facella-Ervolini, J Sady, M Mayo, J Gaillard, WD Berl, MM AF Sepeta, Leigh N. Casaletto, Kaitlin Blackstone Terwilliger, Virginia Facella-Ervolini, Joy Sady, Maegan Mayo, Jessica Gaillard, William D. Berl, Madison M. TI The role of executive functioning in memory performance in pediatric focal epilepsy SO EPILEPSIA LA English DT Article DE Verbal memory; Visual memory; Executive functioning; Pediatric; Epilepsy ID TEMPORAL-LOBE EPILEPSY; QUALITY-OF-LIFE; INTRACTABLE EPILEPSY; CHILDHOOD EPILEPSY; WORKING-MEMORY; CHILDREN; DYSFUNCTION; LOCALIZATION; ADOLESCENTS; PROFILES AB Objective: Learning and memory are essential for academic success and everyday functioning, but the pattern of memory skills and its relationship to executive functioning in children with focal epilepsy is not fully delineated. We address a gap in the literature by examining the relationship between memory and executive functioning in a pediatric focal epilepsy population. Methods: Seventy children with focal epilepsy and 70 typically developing children matched on age, intellectual functioning, and gender underwent neuropsychological assessment, including measures of intelligence (Wechsler Abbreviated Scale of Intelligence [WASI]/Differential Ability Scales [DAS]), as well as visual Children's Memory Scale (CMS Dot Locations) and verbal episodic memory (Wide Range Assessment of Memory and Learning [WRAML] Story Memory and California Verbal Learning Test for Children [CVLT-C]). Executive functioning was measured directly (WISC-IV Digit Span Backward; Clinical Evaluation of Language Fundamentals, Fourth Edition (CELFIV) Recalling Sentences) and by parent report (Behavior Rating Inventory of Executive Function [BRIEF]). Results: Children with focal epilepsy had lower delayed free-recall scores than controls across visual and verbal memory tasks (p = 0.02; partial eta(2) = 0.12). In contrast, recognition memory performance was similar for patients and controls (p = 0.36; partial eta(2) = 0.03). Children with focal epilepsy demonstrated difficulties in working memory (p = 0.02; partial eta(2) = 0.08) and planning/organization (p = 0.02) compared to controls. Working memory predicted 9-19% of the variance in delayed free recall for verbal and visual memory; organization predicted 9-10% of the variance in verbal memory. Patients with both left and right focal epilepsy demonstrated more difficulty on verbal versus visual tasks (p = 0.002). Memory performance did not differ by location of seizure foci (temporal vs. extratemporal, frontal vs. extrafrontal). Significance: Children with focal epilepsy demonstrated memory ability within agelevel expectations, but delayed free recall was inefficient compared to typically developing controls. Memory difficulties were not related to general cognitive impairment or seizure localization. Executive functioning accounted for significant variance in memory performance, suggesting that poor executive control negatively influences memory retrieval. C1 [Sepeta, Leigh N.; Facella-Ervolini, Joy; Sady, Maegan; Gaillard, William D.; Berl, Madison M.] Childrens Natl Hlth Syst, Dept Neurosci, Washington, DE USA. [Sepeta, Leigh N.; Gaillard, William D.; Berl, Madison M.] NIH, NINDS Clin Epilepsy Sect, Bethesda, MD USA. [Casaletto, Kaitlin Blackstone] Univ Calif San Diego, San Diego, CA USA. [Terwilliger, Virginia] Northwestern Univ, Feinberg Sch Med, Chicago, IL USA. [Mayo, Jessica] Yale Univ, Yale Sch Med, New Haven, CT USA. RP Berl, MM (reprint author), Childrens Natl Hlth Syst, Div Neuropsychol, 111 Michigan Ave NW, Washington, DC 20010 USA. EM mberl@childrensnational.org FU Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institutes of Health (NIH) [5T32HD046388-08]; Susan S.Spencer Clinical Research Training Fellowship; Avery Translational Research Career Development Program Award (through the Clinical and Translational Science Institute at Children's National [CTSI-CN] ); National Institute of Neurological Disorders and Stroke, NIH [5K23NS065121-01A2, R01NS44280]; NICHD Intellectual and Developmental Disabilities Research Center; Children's National Health System [P30HD040677] FX This work was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health (NIH) (5T32HD046388-08 to L.N.S); the Susan S.Spencer Clinical Research Training Fellowship (to L.N.S.); Avery Translational Research Career Development Program Award (through the Clinical and Translational Science Institute at Children's National [CTSI-CN] to L.N.S.); the National Institute of Neurological Disorders and Stroke, NIH (5K23NS065121-01A2 to M.M.B., R01NS44280 to W.D.G.); and NICHD Intellectual and Developmental Disabilities Research Center and Children's National Health System Grant (P30HD040677).Its contents are solely the responsibility of the authors and do not necessarily represent the official views of the NIH.We confirm that we have read the Journal's position on issues involved in ethical publication and affirm that this report is consistent with those guidelines.The authors thank all of the families and children who participated. NR 44 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0013-9580 EI 1528-1167 J9 EPILEPSIA JI Epilepsia PD FEB PY 2017 VL 58 IS 2 BP 300 EP 310 DI 10.1111/epi.13637 PG 11 WC Clinical Neurology SC Neurosciences & Neurology GA EP3CT UT WOS:000397260900016 PM 28111742 ER PT J AU Chiu, CY Jung, J Chen, W Weeks, DE Ren, HB Boehnke, M Amos, CI Liu, AY Mills, JL Lee, MLT Xiong, MM Fan, RZ AF Chiu, Chi-yang Jung, Jeesun Chen, Wei Weeks, Daniel E. Ren, Haobo Boehnke, Michael Amos, Christopher I. Liu, Aiyi Mills, James L. Lee, Mei-ling Ting Xiong, Momiao Fan, Ruzong TI Meta-analysis of quantitative pleiotropic traits for next-generation sequencing with multivariate functional linear models SO EUROPEAN JOURNAL OF HUMAN GENETICS LA English DT Article ID RARE-VARIANT ASSOCIATION; GENOME-WIDE ASSOCIATION; GENE LEVEL; PREDICTION; REGRESSION; ACCURACY; DISEASES AB To analyze next-generation sequencing data, multivariate functional linear models are developed for a meta-analysis of multiple studies to connect genetic variant data to multiple quantitative traits adjusting for covariates. The goal is to take the advantage of both meta-analysis and pleiotropic analysis in order to improve power and to carry out a unified association analysis of multiple studies and multiple traits of complex disorders. Three types of approximate F -distributions based on Pillai-Bartlett trace, Hotelling-Lawley trace, and Wilks's Lambda are introduced to test for association between multiple quantitative traits and multiple genetic variants. Simulation analysis is performed to evaluate false-positive rates and power of the proposed tests. The proposed methods are applied to analyze lipid traits in eight European cohorts. It is shown that it is more advantageous to perform multivariate analysis than univariate analysis in general, and it is more advantageous to perform meta-analysis of multiple studies instead of analyzing the individual studies separately. The proposed models require individual observations. The value of the current paper can be seen at least for two reasons: (a) the proposed methods can be applied to studies that have individual genotype data; (b) the proposed methods can be used as a criterion for future work that uses summary statistics to build test statistics to meta-analyze the data. C1 [Chiu, Chi-yang; Liu, Aiyi; Fan, Ruzong] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Biostat & Bioinformat Branch, Div Intramural Populat Hlth Res, NIH, Bethesda, MD USA. [Jung, Jeesun] NIAAA, Lab Epidemiol & Biometry, NIH, Bethesda, MD USA. [Chen, Wei] Univ Pittsburgh, Div Pulm Med Allergy & Immunol, Med Ctr, Pittsburgh, PA USA. [Weeks, Daniel E.] Univ Pittsburgh, Dept Human Genet & Biostat, Pittsburgh, PA USA. [Ren, Haobo] Data Paradise Inc, Belle Mead, NJ USA. [Boehnke, Michael] Univ Michigan, Dept Biostat, Ann Arbor, MI 48109 USA. [Amos, Christopher I.] Geisel Sch Med Dartmouth, Dept Biomed Data Sci, Dartmouth, NS, Lebanon. [Mills, James L.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Epidemiol Branch, Div Intramural Populat Hlth Res, NIH, Bethesda, MD USA. [Lee, Mei-ling Ting] Univ Maryland, Dept Epidemiol & Biostat, College Pk, MD 20742 USA. [Xiong, Momiao] Univ Texas Houston, Ctr Human Genet, Houston, TX USA. [Fan, Ruzong] Georgetown Univ, Med Ctr, Dept Biostat Bioinformat & Biomath, 4000 Reservoir Rd NW,Bldg D-180, Washington, DC 20057 USA. RP Fan, RZ (reprint author), Georgetown Univ, Med Ctr, Dept Biostat Bioinformat & Biomath, 4000 Reservoir Rd NW,Bldg D-180, Washington, DC 20057 USA. EM rf740@georgetown.edu OI Weeks, Daniel/0000-0001-9410-7228 FU Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Maryland; NIH [R01EY024226, R01HG007358]; University of Pittsburgh [R01EY024226] FX Two anonymous reviewers and Editor-in-Chief, Professor Dr Gertjan van Ommen, provided very good and insightful comments for us to improve the manuscript. We greatly thank the European cohort investigators for letting us analyze the data and use them as examples. Dr Heather M Stringham and Dr Tanya M Teslovich kindly sent us the data of the European cohorts and patiently answered many questions about the cohorts, and we greatly appreciated them. This study was supported by the Intramural Research Program of the Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Maryland (Ruzong Fan and Chi-yang Chiu), by Wei Chen's NIH grants R01EY024226 and R01HG007358 and the University of Pittsburgh (Ruzong Fan is an unpaid collaborator on the grant R01EY024226). This study utilized the high-performance computational capabilities of the Biowulf Linux cluster at the National Institutes of Health, Bethesda, MD (http://biowulf.nih.gov). NR 57 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 1018-4813 EI 1476-5438 J9 EUR J HUM GENET JI Eur. J. Hum. Genet. PD FEB PY 2017 VL 25 IS 3 BP 350 EP 359 DI 10.1038/ejhg.2016.170 PG 10 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA EL0ZS UT WOS:000394350900011 PM 28000696 ER PT J AU Yeo, S Enoch, MA Gorodetsky, E Akhtar, L Schuebel, K Roy, A Goldman, D AF Yeo, S. Enoch, M. -A. Gorodetsky, E. Akhtar, L. Schuebel, K. Roy, A. Goldman, D. TI The influence of FKBP5 genotype on expression of FKBP5 and other glucocorticoid-regulated genes, dependent on trauma exposure SO GENES BRAIN AND BEHAVIOR LA English DT Article DE cis-Acting regulation; differential allelic expression; DNA methylation; FKBP5; glucocorticoid; glucocorticoid receptor; rs1360780; trans-acting effect; trauma; ultra-short negative-feedback ID LYMPHOBLASTOID CELL-LINES; DNA METHYLATION; CHILDHOOD TRAUMA; PERIPHERAL-BLOOD; POLYMORPHISMS; RECEPTOR; STRESS; DEPRESSION; DISORDER; RISK AB The FK506 binding protein 51 (FKBP5), an intrinsic regulator of the glucocorticoid receptor, has been associated with pathological behaviors particularly in the context of childhood trauma (CT), via a putatively regulatory polymorphism, rs1360780. However, trans-and cis-acting effects of this locus and its interaction with CT are incompletely understood. To study its effects on the expression of glucocorticoid-regulated genes including FKBP5, we used lymphoblastoid cell lines (LCLs) derived from 16 CT-exposed patients with greater than two substance dependence/suicidal behavior diagnoses (casesCT+) and 13 non-CT-exposed controls (controlsCT-). This study in LCLs measures long-term trait-like differences attributable to genotype or lasting epigenetic modification. Through analysis of differential allelic expression (DAE) using an FKBP5 3 '-UTR reporter single nucleotide polymorphism (SNP), rs3800373, that is in strong linkage disequilibrium with rs1360780, we confirmed that the rs1360780 risk allele (A) (or conceivably that of a linked SNP) leads to higher FKBP5 expression in controlsCT-. Intriguingly, casesCT+ did not show DAE, perhaps because of a genotype-predicted difference in FKBP5 DNA methylation restricted to casesCT+. Furthermore, through correlation analyses on FKBP5 expression at baseline and after induction by dexamethasone, we observed that casesCT+ had lower induction of FKBP5 expression, indicating that overall they may have strong ultra-short negative-feedback. Only casesCT+ showed an effect of rs1360780 genotype on expression of FKBP5 and other glucocorticoid-regulated genes. Together, these results confirm that the rs1360780 locus alters FKBP5 expression and further that in trans-fashion this locus affects the expression of other glucocorticoid-regulated genes after a glucocorticoid challenge. The CT exposure appears to be essential for trans-effects of rs1360780 on glucocorticoid-regulated genes. C1 [Yeo, S.; Enoch, M. -A.; Gorodetsky, E.; Akhtar, L.; Schuebel, K.; Goldman, D.] NIAAA, Neurogenet Lab, NIH, Bethesda, MD USA. [Roy, A.] New Jersey VA Hlth Care Syst, Dept Vet Affairs, Psychiat Serv, E Orange, NJ USA. RP Goldman, D (reprint author), NIH NIAAA DICBR LNG, 5625 Fishers Lane,Room 3S32,MSC 9412, Bethesda, MD 20892 USA. EM davidgoldman@mail.nih.gov FU Intramural Research Program of the National Institute on Alcohol Abuse and Alcoholism; NIH [RO1 DA 10336-02]; National Institute on Drug Abuse, NIH FX This research was supported by the Intramural Research Program of the National Institute on Alcohol Abuse and Alcoholism, NIH and in part by grant RO1 DA 10336-02 to A.R. from the National Institute on Drug Abuse, NIH. The authors declare no conflict of interest. NR 30 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1601-1848 EI 1601-183X J9 GENES BRAIN BEHAV JI Genes Brain Behav. PD FEB PY 2017 VL 16 IS 2 BP 223 EP 232 DI 10.1111/gbb.12342 PG 10 WC Behavioral Sciences; Neurosciences SC Behavioral Sciences; Neurosciences & Neurology GA EO9PR UT WOS:000397021100001 PM 27648526 ER PT J AU Nicoletti, A Ziccardi, L Maltese, PE Benedetti, S Palumbo, O Rendina, M D'Agruma, L Falsini, B Wang, XJ Bertelli, M AF Nicoletti, Annalisa Ziccardi, Lucia Maltese, Paolo Enrico Benedetti, Sabrina Palumbo, Orazio Rendina, Michelina D'Agruma, Leonardo Falsini, Benedetto Wang, Xinjing Bertelli, Matteo TI Design and Validation of a New MLPA-Based Assay for the Detection of RS1 Gene Deletions and Application in a Large Family with X-Linked Juvenile Retinoschisis SO GENETIC TESTING AND MOLECULAR BIOMARKERS LA English DT Article DE retinoschisis; MLPA; RS1; XLRS ID PHENOTYPE; MUTATION AB Aims: X-linked juvenile retinoschisis (XLRS) is a severe ocular disorder that can evolve to blindness. More than 200 different disease-causing mutations have been reported in the RS1 gene and approximately 10% of these are deletions. Since transmission is X-linked, males are always affected and females are usually carriers. The identification of female carriers is always important and poses a technical challenge. Therefore, we sought to develop a multiplex ligation dependent probe amplification (MLPA)-based method to identify deletions or duplications in this gene. We then used our assay to study a large XLRS family. Methods: We designed six probes specific for each RS1 exon and then optimized and validated our method using control samples with known gene deletions. In the XLRS family, RS1 gene copy number variation was assessed by "home-made'' MLPA analysis and by single nucleotide polymorphism (SNP) array analysis using the Cyto-Scan HD Array. Direct sequencing was used for deletion breakpoint mapping. Results: Our assay detected all deletions in control samples. All affected males of the family were positive for a deletion of exon 2 of the RS1 gene (RS1: NM_000330: c.53-?_78+?del). Carrier females were also identified. Conclusion: Our method is easily replicated, reliable, and inexpensive and allows female carriers to be detected. This is the first report of deep characterization of a whole exon deletion in the RS1 gene. C1 [Nicoletti, Annalisa; Maltese, Paolo Enrico; Benedetti, Sabrina; Bertelli, Matteo] MAGI Nonprofit Human Med Genet Inst, Rovereto, Trento, Italy. [Nicoletti, Annalisa] Univ Bologna, Dept Med & Surg Sci DIMEC, Bologna, Italy. [Ziccardi, Lucia] GB Bietti Fdn IRCCS, Rome, Italy. [Palumbo, Orazio; Rendina, Michelina; D'Agruma, Leonardo] IRCCS Casa Sollievo Sofferenza, Med Genet Serv, San Giovanni Rotondo, Italy. [Falsini, Benedetto] Catholic Univ, Inst Ophthalmol, Policlin Gemelli, Rome, Italy. [Wang, Xinjing] NEI, DNA Diagnost Lab, Ophthalm Genet & Visual Funct Branch, NIH, Bethesda, MD 20892 USA. RP Maltese, PE (reprint author), MAGI Nonprofit Human Med Genet Inst, Rovereto, Trento, Italy. EM paolo.maltese@assomagi.org OI PALUMBO, ORAZIO/0000-0001-6583-3482; Maltese, Paolo Enrico/0000-0002-1974-4937 FU Ministry of Health; Fondazione Roma FX The contribution by Fondazione Bietti in this article was supported by the Ministry of Health and Fondazione Roma. The authors are grateful to Helen Ampt for revising the article. NR 13 TC 0 Z9 0 U1 1 U2 1 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1945-0265 EI 1945-0257 J9 GENET TEST MOL BIOMA JI Genet. Test. Mol. Biomark. PD FEB PY 2017 VL 21 IS 2 BP 116 EP 121 DI 10.1089/gtmb.2016.0257 PG 6 WC Biochemistry & Molecular Biology; Genetics & Heredity SC Biochemistry & Molecular Biology; Genetics & Heredity GA EL3CH UT WOS:000394496700010 PM 27997221 ER PT J AU de Heer, HD de la Haye, K Skapinsky, K Goergen, AF Wilkinson, AV Koehly, LM AF de Heer, Hendrik Dirk de la Haye, Kayla Skapinsky, Kaley Goergen, Andrea F. Wilkinson, Anna V. Koehly, Laura M. TI Let's Move Together: A Randomized Trial of the Impact of Family Health History on Encouragement and Co-Engagement in Physical Activity of Mexican-Origin Parents and Their Children SO HEALTH EDUCATION & BEHAVIOR LA English DT Article DE cardiovascular disease; community health promotion; diabetes; diffusion of innovations; family health; Latino; network analysis; physical activity; exercise; race; ethnicity; social influence ID LARGE SOCIAL NETWORK; AMERICAN ADULTS; CARE PROVIDERS; OBESITY; RISK; BEHAVIORS; CHILDHOOD; DISEASES; OUTCOMES; SUPPORT AB Background. Due to shared health behaviors and disease risk, families may be more effective targets for health promotion. This study assessed whether providing family health history (FHH)-based risk information for heart disease and diabetes affected encouragement to engage in physical activity (PA) and healthy weight (HW) maintenance and co-engagement in physical activity among 320 Mexican-origin parents and their 1,081 children. Method. At baseline and 10 months, parents indicated who they encouraged and who encouraged them to engage in PA/HW, and with whom they co-engaged in PA. Households were randomized to receive FHH-based assessments either by one or all adult household members. Primary analyses consisted of regression analyses using generalized estimating equations. Results. At baseline, parents reported encouraging their child for both PA and HW in 37.6% of parent-child dyads and reported receiving children's encouragement for both in 12.1% of dyads. These increased to 56.8% and 17.5% at 10 months (p < .001). Co-engagement in PA increased from 11.4% to 15.7% (p < .001), with younger children (30.4%) and mother-daughter dyads (26.8%) most likely to co-engage at 10 months. Providing FHH-based risk information to all adult household members (vs. one) was associated with increased parent-to-child encouragement of PA/HW (p = .011) at 10 months but not child-to-parent encouragement. New encouragement from parent-to-child (p = .048) and from child-to-parent (p = .003) predicted new 10-month PA co-engagement. Discussion. Providing FHH information on a household level can promote parental encouragement for PA/HW, which can promote greater parent-child co-engagement in PA. In this high-risk population with a cultural emphasis on family ties, using FHH-based risk information for all adult household members may be a promising avenue to promote PA. C1 [de Heer, Hendrik Dirk] Univ Arizona, Flagstaff, AZ USA. [de Heer, Hendrik Dirk; Skapinsky, Kaley; Goergen, Andrea F.; Koehly, Laura M.] NHGRI, Bethesda, MD 20892 USA. [de la Haye, Kayla] Univ So Calif, Los Angeles, CA USA. [Wilkinson, Anna V.] Univ Texas Austin, Sch Publ Hlth, Austin, TX 78712 USA. RP Koehly, LM (reprint author), NHGRI, Social & Behav Res Branch, Social Networks Methods Sect, 31 Ctr Dr,Bldg 31 Room B1B37, Bethesda, MD 20892 USA. EM koehlyl@mail.nih.gov FU Intramural Research Program of the National Human Genome Research Institute at the National Institutes of Health [Z01HG200335]; National Cancer Institute [K07-CA126988]; Comprehensive Tobacco Settlement; Caroline W. Law Fund for Cancer Prevention; Dan Duncan Family Institute for Cancer Prevention and Risk Assessment FX The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: This study was supported by the Intramural Research Program of the National Human Genome Research Institute at the National Institutes of Health [Z01HG200335 to LMK]. Anna V. Wilkinson was supported by the National Cancer Institute [K07-CA126988]. The Mano a Mano cohort was funded by the Comprehensive Tobacco Settlement of 1998, the Caroline W. Law Fund for Cancer Prevention, and the Dan Duncan Family Institute for Cancer Prevention and Risk Assessment. NR 47 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1090-1981 EI 1552-6127 J9 HEALTH EDUC BEHAV JI Health Educ. Behav. PD FEB PY 2017 VL 44 IS 1 BP 141 EP 152 DI 10.1177/1090198116644703 PG 12 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EO8DB UT WOS:000396918100015 PM 27198532 ER PT J AU Roccella, EJ AF Roccella, Edward J. TI Sigrid G. Deeds, MPH, DrPH (1923-2011) In Memoriam SO HEALTH EDUCATION & BEHAVIOR LA English DT Biographical-Item C1 [Roccella, Edward J.] NHLBI, US Natl High Blood Pressure Educ Program, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Roccella, EJ (reprint author), NHLBI, US Natl High Blood Pressure Educ Program, NIH, Bldg 10, Bethesda, MD 20892 USA. NR 1 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1090-1981 EI 1552-6127 J9 HEALTH EDUC BEHAV JI Health Educ. Behav. PD FEB PY 2017 VL 44 IS 1 BP 193 EP 193 DI 10.1177/1090198116687259 PG 1 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EO8DB UT WOS:000396918100021 PM 28097932 ER PT J AU Taves, MD Hamden, JE Soma, KK AF Taves, Matthew D. Hamden, Jordan E. Soma, Kiran K. TI Local glucocorticoid production in lymphoid organs of mice and birds: Functions in lymphocyte development SO HORMONES AND BEHAVIOR LA English DT Review DE Apoptosis; Bone marrow; Bursa of Fabricius; Corticosterone; Cortisol; Glucocorticoid receptor; Immunosteroid; Stress; Thymus; 11 beta-Hydroxysteroid dehydrogenase ID PITUITARY-ADRENAL AXIS; EXPERIMENTAL AUTOIMMUNE ENCEPHALOMYELITIS; B-CELL DEVELOPMENT; POSITIVE SELECTION; ZEBRA FINCH; ENDOGENOUS GLUCOCORTICOIDS; DEHYDROGENASE TYPE-2; THYMOCYTE SELECTION; NEGATIVE SELECTION; INDUCED APOPTOSIS AB Circulating glucocorticoids (GCs) are powerful regulators of immunity. Stress-induced GC secretion by the adrenal glands initially enhances and later suppresses the immune response. GC targets include lymphocytes of the adaptive immune system, which are well known for their sensitivity to GCs. Less appreciated, however, is that GCs are locally produced in lymphoid organs, such as the thymus, where GCs play a critical role in selection of the T cell antigen receptor (TCR) repertoire. Here, we review the roles of systemic and locally-produced GCs in T lymphocyte development, which has been studied primarily in laboratory mice. By antagonizing TCR signaling in developing T cells, thymus-derived GCs promote selection of T cells with stronger TCR signaling. This results in increased T cell-mediated immune responses to a range of antigens. We then compare local and systemic GC patterns in mice to those in several bird species. Taken together, these studies suggest that a combination of adrenal and lymphoid GC production might function to adaptively regulate lymphocyte development and selection, and thus antigen-specific immune reactivity, to optimize survival under different environmental conditions. Future studies should examine how lymphoid GC patterns vary across other vertebrates, how GCs function in B lymphocyte development in the bone marrow, spleen, and the avian bursa of Fabricius, and whether GCs adaptively program immunity in free-living animals. Published by Elsevier Inc. C1 [Taves, Matthew D.; Hamden, Jordan E.; Soma, Kiran K.] Univ British Columbia, Dept Psychol, 2136 West Mall, Vancouver, BC V6T 1Z4, Canada. [Taves, Matthew D.; Hamden, Jordan E.; Soma, Kiran K.] Univ British Columbia, Dept Zool, 4200-6270 Univ Blvd, Vancouver, BC V6T 1Z4, Canada. [Taves, Matthew D.; Soma, Kiran K.] Univ British Columbia, Djavad Mowafaghian Ctr Brain Hlth, 2215 Wesbrook Mall, Vancouver, BC V6T 1Z3, Canada. RP Taves, MD (reprint author), NCI, Ctr Canc Res, Lab Immune Cell Biol, Bldg 37,Room 3002, Bethesda, MD 20892 USA. EM taves@zoology.ubc.ca; hamden@zoology.ubc.ca; ksoma@psych.ubc.ca OI Taves, Matthew/0000-0002-4841-059X FU NSERC [RGPIN-2014-04884]; CIHR FX The authors wish to thank Drs. Gregory E. Demas and Noah T. Ashley for the invitation to contribute this article, and Drs. Nora H. Prior and Paul R. Mittelstadt for helpful discussions of the manuscript. This work was supported by a NSERC Discovery Grant (RGPIN-2014-04884) to K.K.S. and a CIHR Doctoral Fellowship to M.D.T. NR 120 TC 1 Z9 1 U1 1 U2 1 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 0018-506X EI 1095-6867 J9 HORM BEHAV JI Horm. Behav. PD FEB PY 2017 VL 88 SI SI BP 4 EP 14 DI 10.1016/j.yhbeh.2016.10.022 PG 11 WC Behavioral Sciences; Endocrinology & Metabolism SC Behavioral Sciences; Endocrinology & Metabolism GA EL4AC UT WOS:000394561300002 PM 27818220 ER PT J AU de Visser, EJ Monfort, SS Goodyear, K Lu, L O'Hara, M Lee, MR Parasuraman, R Krueger, F AF de Visser, Ewart J. Monfort, Samuel S. Goodyear, Kimberly Lu, Li O'Hara, Martin Lee, Mary R. Parasuraman, Raja Krueger, Frank TI A Little Anthropomorphism Goes a Long Way: Effects of Oxytocin on Trust, Compliance, and Team Performance With Automated Agents SO HUMAN FACTORS LA English DT Article DE trust in automation; oxytocin; autonomous agents; compliance and reliance; human-automation interaction; neuroergonomics; virtual humans ID HIERARCHICAL LINEAR-MODELS; HUMAN SOCIAL-BEHAVIOR; INDIVIDUAL-DIFFERENCES; INCREASES TRUST; OLDER-ADULTS; HUMAN BRAIN; IN-GROUP; HUMANS; TECHNOLOGY; PERCEPTION AB Objective: We investigated the effects of exogenous oxytocin on trust, compliance, and team decision making with agents varying in anthropomorphism (computer, avatar, human) and reliability (100%, 50%). Background: Authors of recent work have explored psychological similarities in how people trust humanlike automation compared with how they trust other humans. Exogenous administration of oxytocin, a neuropeptide associated with trust among humans, offers a unique opportunity to probe the anthropomorphism continuum of automation to infer when agents are trusted like another human or merely a machine. Method: Eighty-four healthy male participants collaborated with automated agents varying in anthropomorphism that provided recommendations in a pattern recognition task. Results: Under placebo, participants exhibited less trust and compliance with automated aids as the anthropomorphism of those aids increased. Under oxytocin, participants interacted with aids on the extremes of the anthropomorphism continuum similarly to placebos but increased their trust, compliance, and performance with the avatar, an agent on the midpoint of the anthropomorphism continuum. Conclusion: This study provides the first evidence that administration of exogenous oxytocin affected trust, compliance, and team decision making with automated agents. These effects provide support for the premise that oxytocin increases affinity for social stimuli in automated aids. Application: Designing automation to mimic basic human characteristics is sufficient to elicit behavioral trust outcomes that are driven by neurological processes typically observed in human-human interactions. Designers of automated systems should consider the task, the individual, and the level of anthropomorphism to achieve the desired outcome. C1 [de Visser, Ewart J.] George Mason Univ, Truman Lab, Fairfax, VA 22030 USA. [Monfort, Samuel S.] George Mason Univ, Human Factors & Appl Cognit Program, Fairfax, VA 22030 USA. [Goodyear, Kimberly] Brown Univ, Ctr Alcohol & Addict Studies, Providence, RI 02912 USA. [Lu, Li; Parasuraman, Raja] George Mason Univ, Fairfax, VA 22030 USA. [O'Hara, Martin] Fairfax Hosp, Virginia Hosp Ctr, Arlington, VA USA. [Lee, Mary R.] NIAAA, Sect Clin Psychoneuroendocrinol & Neuropsychophar, Bethesda, MD USA. [Krueger, Frank] George Mason Univ, Dept Psychol, Social Cognit Neurosci, Fairfax, VA 22030 USA. RP de Visser, EJ (reprint author), Perceptron Solut Inc, Human Factors & UX Res, 3141 Fairview Pk Dr,Suite 415, Falls Church, VA 22042 USA. EM edevisser@percsolutions.com FU AFOSR/AFRL Grant [FA9550-10-1-0385]; Center of Excellence in Neuroergonomics, Technology, and Cognition (CENTEC); Air Force Office of Scientific Research [15RHCOR234] FX This research was supported in part by AFOSR/AFRL Grant FA9550-10-1-0385 to R. P. and the Center of Excellence in Neuroergonomics, Technology, and Cognition (CENTEC). This material is also based upon work supported by the Air Force Office of Scientific Research under Award Number 15RHCOR234. We would like to thank Melissa Smith for assisting with data collection. During the last stages of preparing this manuscript, our dear friend and colleague Raja Parasuraman passed away. We would like to dedicate this research to Raja Parasuraman, who was a great mentor, colleague, and friend. NR 121 TC 0 Z9 0 U1 1 U2 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 0018-7208 EI 1547-8181 J9 HUM FACTORS JI Hum. Factors PD FEB PY 2017 VL 59 IS 1 BP 116 EP 133 DI 10.1177/0018720816687205 PG 18 WC Behavioral Sciences; Engineering, Industrial; Ergonomics; Psychology, Applied; Psychology SC Behavioral Sciences; Engineering; Psychology GA EL6WG UT WOS:000394762500009 PM 28146673 ER PT J AU Liu, P Zhang, H Eom, KB AF Liu, Peng Zhang, Hui Eom, Kie B. TI Active Deep Learning for Classification of Hyperspectral Images SO IEEE JOURNAL OF SELECTED TOPICS IN APPLIED EARTH OBSERVATIONS AND REMOTE SENSING LA English DT Article DE Active learning; deep learning; remote sensing classification; sparse representation ID ORTHOGONAL MATCHING PURSUIT; DIVERSITY; ALGORITHM AB Active deep learning classification of hyperspectral images is considered in this paper. Deep learning has achieved success in many applications, but good-quality labeled samples are needed to construct a deep learning network. It is expensive getting good labeled samples in hyperspectral images for remote sensing applications. An active learning algorithm based on a weighted incremental dictionary learning is proposed for such applications. The proposed algorithm selects training samples that maximize two selection criteria, namely representative and uncertainty. This algorithm trains a deep network efficiently by actively selecting training samples at each iteration. The proposed algorithm is applied for the classification of hyperspectral images, and compared with other classification algorithms employing active learning. It is shown that the proposed algorithm is efficient and effective in classifying hyperspectral images. C1 [Liu, Peng] Chinese Acad Sci, Inst Remote Sensing & Digital Earth, Beijing 100094, Peoples R China. [Zhang, Hui] NIH, Lab Brain & Cognit, Bldg 10, Bethesda, MD 20892 USA. [Eom, Kie B.] George Washington Univ, Dept Elect & Comp Engn, Washington, DC 20052 USA. RP Eom, KB (reprint author), George Washington Univ, Dept Elect & Comp Engn, Washington, DC 20052 USA. EM liupeng@radi.ac.cn; hui.zhang@nih.gov; eom@gwu.edu FU NSFC [41471368, 41571413]; RADI Director Youth foundation FX This work was supported in part by NSFC under Grant 41471368 and Grant 41571413 and in part by RADI Director Youth foundation. (Corresponding author: Kie B. Eom.) NR 25 TC 0 Z9 0 U1 2 U2 2 PU IEEE-INST ELECTRICAL ELECTRONICS ENGINEERS INC PI PISCATAWAY PA 445 HOES LANE, PISCATAWAY, NJ 08855-4141 USA SN 1939-1404 EI 2151-1535 J9 IEEE J-STARS JI IEEE J. Sel. Top. Appl. Earth Observ. Remote Sens. PD FEB PY 2017 VL 10 IS 2 BP 712 EP 724 DI 10.1109/JSTARS.2016.2598859 PG 13 WC Engineering, Electrical & Electronic; Geography, Physical; Remote Sensing; Imaging Science & Photographic Technology SC Engineering; Physical Geography; Remote Sensing; Imaging Science & Photographic Technology GA EM7BO UT WOS:000395466700028 ER PT J AU Erez, A Altan-Bonnet, G AF Erez, Amir Altan-Bonnet, Gregoire TI Lymphocytic division clocked up by Myc SO IMMUNOLOGY AND CELL BIOLOGY LA English DT Editorial Material ID T-CELLS C1 [Erez, Amir; Altan-Bonnet, Gregoire] NCI, Bethesda, MD 20892 USA. RP Erez, A; Altan-Bonnet, G (reprint author), NCI, Bethesda, MD 20892 USA. EM amir.erez@nih.gov; gregoire.altan-bonnet@nih.gov OI Erez, Amir/0000-0002-2320-4984 NR 10 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0818-9641 EI 1440-1711 J9 IMMUNOL CELL BIOL JI Immunol. Cell Biol. PD FEB PY 2017 VL 95 IS 2 BP 119 EP 120 DI 10.1038/icb.2016.115 PG 2 WC Cell Biology; Immunology SC Cell Biology; Immunology GA EL1EY UT WOS:000394364500002 PM 27995905 ER PT J AU Hansen, DS Obeng-Adjei, N Ly, A Ioannidis, LJ Crompton, PD AF Hansen, Diana S. Obeng-Adjei, Nyamekye Ly, Ann Ioannidis, Lisa J. Crompton, Peter D. TI Emerging concepts in T follicular helper cell responses to malaria SO INTERNATIONAL JOURNAL FOR PARASITOLOGY LA English DT Article; Proceedings Paper CT 5th Conference on Molecular Approaches to Malaria (MAM) CY FEB 21-25, 2016 CL Lorne, AUSTRALIA DE Malaria; Protection; Antibody responses; T follicular helper cells; B cells ID MEROZOITE SURFACE PROTEIN-1; INHIBIT PARASITE GROWTH; MEMORY TFH CELLS; PLASMODIUM-FALCIPARUM; ANTIBODY-RESPONSES; GERMINAL CENTER; B-CELL; ACQUIRED-IMMUNITY; PREDICT PROTECTION; HUMORAL IMMUNITY AB Antibody responses to malaria and candidate malaria vaccines are short-lived in children, leaving them susceptible to repeated malaria episodes. Because T follicular helper (T-FH) cells provide critical help to B cells to generate long-lived antibody responses, they have become the focus of recent studies of Plasmodium-infected mice and humans. The emerging data converge on common themes, namely, that malaria-induced T-H1 cytokines are associated with the activation of (i) T-like memory TFH cells with impaired B cell helper function, and (ii) pre-T-FH cells that acquire Th1-like features (T-bet expression, IFN-gamma production), which impede their differentiation into fully functional TFH cells, thus resulting in germinal center dysfunction and suboptimal antibody responses. Deeper knowledge of TFH cells in malaria could illuminate strategies to improve vaccines through modulating TFH cell responses. This review summarizes emerging concepts in TFH cell responses to malaria. (C) 2016 Published by Elsevier Ltd on behalf of Australian Society for Parasitology. C1 [Hansen, Diana S.; Ly, Ann; Ioannidis, Lisa J.] Walter & Eliza Hall Inst Med Res, 1G Royal Parade, Parkville, Vic 3052, Australia. [Hansen, Diana S.; Ly, Ann; Ioannidis, Lisa J.] Univ Melbourne, Dept Med Biol, Parkville, Vic 3010, Australia. [Obeng-Adjei, Nyamekye; Crompton, Peter D.] NIAID, Malaria Infect Biol & Immun Unit, Immunogenet Lab, NIH, Rockville, MD USA. RP Hansen, DS (reprint author), Walter & Eliza Hall Inst Med Res, 1G Royal Parade, Parkville, Vic 3052, Australia.; Crompton, PD (reprint author), NIAID, Malaria Infect Biol & Immun Unit, Immunogenet Lab, NIH, Rockville, MD USA. EM hansen@wehi.edu.au; perompton@niaid.nih.gov FU Australian Government National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme; Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA; [1058665]; [1107812] FX Diana Hansen is supported by the Australian Government National Health and Medical Research Council Independent Research Institute Infrastructure Support Scheme and Project Grants 1058665, 1107812. Nyamekye Obeng-Adjei and Peter Crompton are supported by the Division of Intramural Research, National Institute of Allergy and Infectious Diseases, National Institutes of Health, USA. For assistance with images we thank Alan Hoofring (Medical Arts Design Section, National Institutes of Health, USA). NR 77 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCI LTD PI OXFORD PA THE BOULEVARD, LANGFORD LANE, KIDLINGTON, OXFORD OX5 1GB, OXON, ENGLAND SN 0020-7519 EI 1879-0135 J9 INT J PARASITOL JI Int. J. Parasit. PD FEB PY 2017 VL 47 IS 2-3 BP 105 EP 110 DI 10.1016/j.ijpara.2016.09.004 PG 6 WC Parasitology SC Parasitology GA EL9FN UT WOS:000394925600005 PM 27866903 ER PT J AU Yoneyama, S Yao, J Guo, X Fernandez-Rhodes, L Lim, U Boston, J Buzkova, P Carlson, CS Cheng, I Cochran, B Cooper, R Ehret, G Fornage, M Gong, J Gross, M Gu, CC Haessler, J Haiman, CA Henderson, B Hindorff, LA Houston, D Irvin, MR Jackson, R Kuller, L Leppert, M Lewis, CE Li, R Le Marchand, L Matise, TC Nguyen, KDH Chakravarti, A Pankow, JS Pankratz, N Pooler, L Ritchie, MD Bien, SA Wassel, CL Chen, YDI Taylor, KD Allison, M Rotter, JI Schreiner, PJ Schumacher, F Wilkens, L Boerwinkle, E Kooperberg, C Peters, U Buyske, S Graff, M North, KE AF Yoneyama, S. Yao, J. Guo, X. Fernandez-Rhodes, L. Lim, U. Boston, J. Buzkova, P. Carlson, C. S. Cheng, I. Cochran, B. Cooper, R. Ehret, G. Fornage, M. Gong, J. Gross, M. Gu, C. C. Haessler, J. Haiman, C. A. Henderson, B. Hindorff, L. A. Houston, D. Irvin, M. R. Jackson, R. Kuller, L. Leppert, M. Lewis, C. E. Li, R. Le Marchand, L. Matise, T. C. Nguyen, K-D H. Chakravarti, A. Pankow, J. S. Pankratz, N. Pooler, L. Ritchie, M. D. Bien, S. A. Wassel, C. L. Chen, Y-D I. Taylor, K. D. Allison, M. Rotter, J. I. Schreiner, P. J. Schumacher, F. Wilkens, L. Boerwinkle, E. Kooperberg, C. Peters, U. Buyske, S. Graff, M. North, K. E. CA PAGE Consortium TI Generalization and fine mapping of European ancestry-based central adiposity variants in African ancestry populations SO INTERNATIONAL JOURNAL OF OBESITY LA English DT Article ID GENOME-WIDE ASSOCIATION; BODY-FAT DISTRIBUTION; TO-HIP RATIO; WAIST CIRCUMFERENCE; SEX-DIFFERENCES; COMPLEX TRAITS; UNITED-STATES; MASS INDEX; ADULTS; LOCI AB BACKGROUND/OBJECTIVES: Central adiposity measures such as waist circumference (WC) and waist-to-hip ratio (WHR) are associated with cardiometabolic disorders independently of body mass index (BMI) and are gaining clinically utility. Several studies report genetic variants associated with central adiposity, but most utilize only European ancestry populations. Understanding whether the genetic associations discovered among mainly European descendants are shared with African ancestry populations will help elucidate the biological underpinnings of abdominal fat deposition. SUBJECTS/METHODS: To identify the underlying functional genetic determinants of body fat distribution, we conducted an arraywide association meta-analysis among persons of African ancestry across seven studies/consortia participating in the Population Architecture using Genomics and Epidemiology (PAGE) consortium. We used the Metabochip array, designed for fine-mapping cardiovascular-associated loci, to explore novel array-wide associations with WC and WHR among 15 945 African descendants using all and sex-stratified groups. We further interrogated 17 known WHR regions for African ancestry-specific variants. RESULTS: Of the 17 WHR loci, eight single-nucleotide polymorphisms (SNPs) located in four loci were replicated in the sexcombined or sex-stratified meta-analyses. Two of these eight independently associated with WHR after conditioning on the known variant in European descendants (rs12096179 in TBX15-WARS2 and rs2059092 in ADAMTS9). In the fine-mapping assessment, the putative functional region was reduced across all four loci but to varying degrees (average 40% drop in number of putative SNPs and 20% drop in genomic region). Similar to previous studies, the significant SNPs in the female-stratified analysis were stronger than the significant SNPs from the sex-combined analysis. No novel associations were detected in the array-wide analyses. CONCLUSIONS: Of 17 previously identified loci, four loci replicated in the African ancestry populations of this study. Utilizing different linkage disequilibrium patterns observed between European and African ancestries, we narrowed the suggestive region containing causative variants for all four loci. C1 [Yoneyama, S.; Fernandez-Rhodes, L.; Graff, M.; North, K. E.] Univ N Carolina, Dept Epidemiol, 137 E Franklin St,Suite 306, Chapel Hill, NC 27514 USA. [Yao, J.; Guo, X.; Chen, Y-D I.; Taylor, K. D.; Rotter, J. I.] Harbor UCLA Med Ctr, Inst Translat Genom & Populat Sci, Dept Pediat, LABioMed, Torrance, CA 90509 USA. [Lim, U.; Le Marchand, L.; Wilkens, L.] Univ Hawaii, Ctr Canc, Program Epidemiol, Honolulu, HI 96822 USA. [Boston, J.] Vanderbilt Univ, Med Ctr, Ctr Human Genet Res, Nashville, TN USA. [Buzkova, P.] Univ Washington, Dept Biostat, Seattle, WA 98195 USA. [Carlson, C. S.; Gong, J.; Haessler, J.; Bien, S. A.; Kooperberg, C.; Peters, U.] Fred Hutchinson Canc Res Ctr, Div Publ Hlth Sci, 1124 Columbia St, Seattle, WA 98104 USA. [Cheng, I.] Canc Prevent Inst Calif, Fremont, CA USA. [Cochran, B.] Baylor Coll Med, Houston, TX 77030 USA. [Cochran, B.] Univ Hosp Geneva, Div Cardiol, Geneva, Switzerland. [Cooper, R.] Loyola Univ, Dept Publ Hlth, Chicago, IL 60611 USA. [Ehret, G.; Nguyen, K-D H.; Chakravarti, A.] Johns Hopkins Univ, Sch Med, Ctr Complex Dis Genom, McKusick Nathans Inst Genet Med, Baltimore, MD USA. [Fornage, M.] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA. [Fornage, M.] Univ Texas Hlth Sci Ctr Houston, Inst Mol Med, Houston, TX 77030 USA. [Gross, M.; Pankratz, N.] Univ Minnesota, Masonic Canc Ctr, Minneapolis, MN USA. [Gu, C. C.] Washington Univ, Dept Biostat, St Louis, MO USA. [Haiman, C. A.; Henderson, B.; Pooler, L.; Schumacher, F.] Univ Southern Calif, Keck Sch Med, Norris Comprehens Canc Ctr, Dept Prevent Med, Los Angeles, CA USA. [Hindorff, L. A.; Li, R.] NHGRI, Div Genom Med, NIH, Bethesda, MD 20892 USA. [Houston, D.] Wake Forest Sch Med, Dept Internal Med, Winston Salem, NC USA. [Irvin, M. R.] Univ Alabama Birmingham, Dept Biostat, Birmingham, AL 35294 USA. [Jackson, R.] Ohio State Med Ctr, Dept Internal Med, Columbus, OH USA. [Kuller, L.] Univ Pittsburgh, Dept Med, Pittsburgh, PA USA. [Leppert, M.] Univ Utah, Dept Human Genet, Salt Lake City, UT USA. [Lewis, C. E.] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA. [Matise, T. C.; Buyske, S.] Rutgers State Univ, Dept Genet, Piscataway, NJ USA. [Pankow, J. S.] Univ Minnesota, Sch Publ Hlth, Dept Epidemiol & Community Hlth, Minneapolis, MN USA. [Ritchie, M. D.] Penn State Univ, Dept Biochem & Mol Biol, State Coll, PA USA. [Wassel, C. L.] Univ Vermont, Dept Pathol & Lab Med, Coll Med, Colchester, VT USA. [Allison, M.] Univ Calif San Diego, Sch Med, Dept Prevent Med, San Diego, CA 92103 USA. [Boerwinkle, E.] Ctr Human Genet, Houston, TX USA. [Boerwinkle, E.] Inst Mol Med, Houston, TX USA. [Boerwinkle, E.] Rutgers State Univ, Dept Stat & Biostat, Piscataway, NJ USA. [North, K. E.] Carolina Ctr Genome Sci, Chapel Hill, NC USA. RP Graff, M (reprint author), Univ N Carolina, Dept Epidemiol, 137 E Franklin St,Suite 306, Chapel Hill, NC 27514 USA. EM migraff@email.unc.edu OI Pankow, James/0000-0001-7076-483X FU NHGRI; CALiCo [U01HG004803]; MEC [U01HG004802]; WHI [U01HG004790]; Coordinating Center [U01HG004801] FX The PAGE consortium thanks the staff and participants of PAGE studies for their important contributions. The PAGE program is funded by the NHGRI, supported by U01HG004803 (CALiCo), U01HG004802 (MEC), U01HG004790 (WHI) and U01HG004801 (Coordinating Center), and their respective NHGRI ARRA supplements. The National Institutes of Mental Health also contributes to the support for the Coordinating Center. The contents of this paper are solely the responsibility of the authors and do not necessarily represent NIH official views. See detailed acknowledgment for full PAGE and collaborating study acknowledgements (Supplementary Information). NR 41 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI LONDON PA MACMILLAN BUILDING, 4 CRINAN ST, LONDON N1 9XW, ENGLAND SN 0307-0565 EI 1476-5497 J9 INT J OBESITY JI Int. J. Obes. PD FEB PY 2017 VL 41 IS 2 BP 324 EP 331 DI 10.1038/ijo.2016.207 PG 8 WC Endocrinology & Metabolism; Nutrition & Dietetics SC Endocrinology & Metabolism; Nutrition & Dietetics GA EK7ZM UT WOS:000394143700016 PM 27867202 ER PT J AU Zambrano, AI Munoz, BE Mkocha, H Dize, L Gaydos, CA Quinn, T West, SK AF Zambrano, Andrea I. Munoz, Beatriz E. Mkocha, Harran Dize, Laura Gaydos, Charlotte A. Quinn, Thomas West, Sheila K. TI Measuring Trachomatous Inflammation-Intense (TI) When Prevalence Is Low Provides Data on Infection With Chlamydia trachomatis SO INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE LA English DT Article DE trachoma; trachomatous inflammation-intense; Chlamydia trachomatis; Tanzania ID FOLLICULAR TRACHOMA; MULTIPLE ROUNDS; EPIDEMIOLOGY; ASSOCIATION; DIAGNOSIS; COMMUNITY; SAFE; LOAD AB PURPOSE. Clinical trachoma is the current measure of effectiveness of antibiotic and environmental improvements in trachoma endemic communities. Impact assessments measure only trachomatous inflammation-follicular (TF). Trachomatous inflammation-intense (TI) is not used for decisions on stopping mass drug administration (MDA) or achieving intervention goals. We tested the supposition that TI was not associated with Chlamydia trachomatis when disease prevalence is low. METHODS. In 35 communities undergoing MDA as part of a larger project, 110 children ages 1 to 9 years were randomly selected in each community for surveys at baseline, 6, and 12 months. Both eyelids were graded for TF and TI, and a swab for detection of C. trachomatis infection was taken. RESULTS. Overall TF prevalence was 5% at baseline. Cases of TI alone constituted 15% of trachoma; 37% of TI cases had infection. At 6 and 12 months, the proportion of trachoma cases that had TI only was 13% and 20%; infection rates were similar to the rates in cases with TF alone. CONCLUSIONS. Despite low prevalence of trachoma, infection rates for TF alone and TI alone were similar at each time point. The exclusion of cases of TI alone when reporting trachoma prevalence discards additional information on infection. Trachomatous inflammation-intense could be considered as part of impact surveys. C1 [Zambrano, Andrea I.; Munoz, Beatriz E.; West, Sheila K.] Johns Hopkins Univ Hosp, Wilmer Eye Inst, Dana Ctr Prevent Ophthalmol, Baltimore, MD 21287 USA. [Mkocha, Harran] Kongwa Trachoma Project, Kongwa, Tanzania. [Dize, Laura; Gaydos, Charlotte A.; Quinn, Thomas] Johns Hopkins Sch Med, Div Infect Dis, Int Chlamydia Lab, Baltimore, MD USA. [Quinn, Thomas] NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. RP West, SK (reprint author), Johns Hopkins Univ Hosp, Wilmer Eye Inst, 600 North Wolfe St,Wilmer Bldg Room 129, Baltimore, MD 21287 USA. EM shwest@jhmi.edu FU National Eye Institute [U10EY022584]; Research to Prevent Blindness FX Supported by National Eye Institute Grant U10EY022584 and Research to Prevent Blindness. NR 22 TC 0 Z9 0 U1 0 U2 0 PU ASSOC RESEARCH VISION OPHTHALMOLOGY INC PI ROCKVILLE PA 12300 TWINBROOK PARKWAY, ROCKVILLE, MD 20852-1606 USA SN 0146-0404 EI 1552-5783 J9 INVEST OPHTH VIS SCI JI Invest. Ophthalmol. Vis. Sci. PD FEB PY 2017 VL 58 IS 2 DI 10.1167/iovs.16-20421 PG 4 WC Ophthalmology SC Ophthalmology GA EO8LC UT WOS:000396939600036 ER PT J AU Kishi, S Gidding, SS Reis, JP Colangelo, LA Venkatesh, BA Armstrong, AC Isogawa, A Lewis, CE Wu, C Jacobs, DR Liu, K Lima, JAG AF Kishi, Satoru Gidding, Samuel S. Reis, Jared P. Colangelo, Laura A. Venkatesh, Bharath A. Armstrong, Anderson C. Isogawa, Akihiro Lewis, Cora E. Wu, Colin Jacobs, David R., Jr. Liu, Kiang Lima, Joao A. G. TI Association of Insulin Resistance and Glycemic Metabolic Abnormalities With LV Structure and Function in Middle Age The CARDIA Study SO JACC-CARDIOVASCULAR IMAGING LA English DT Article DE diabetes mellitus; echocardiography; insulin resistance; left ventricular function; obesity; speckle-tracking echocardiography ID LEFT-VENTRICULAR MASS; ARTERY RISK DEVELOPMENT; AMERICAN-HEART-ASSOCIATION; YOUNG-ADULTS; CARDIOVASCULAR EVENTS; MYOCARDIAL FIBROSIS; MAGNETIC-RESONANCE; DIASTOLIC FUNCTION; SYSTOLIC FUNCTION; FAILURE AB OBJECTIVES This study sought to investigate how cumulative exposure to glycemic abnormalities and trajectories of insulin resistance (IR) relate to left ventricular (LV) remodeling and function during young to middle adulthood. BACKGROUND Cumulative exposure to glycemic abnormalities and trajectories of IR may adversely influence LV remodeling and function over a 25-year period in subjects who were young adults, predisposing individuals to heart failure later in life. METHODS In the CARDIA (Coronary Artery Risk Development in Young Adults) Year 25 examination, 3,179 participants were identified with information on glucose metabolism; these participants were stratified into 4 subgroups: group 1 normal glucose tolerance (NGT), group 2 impaired glucose tolerance (IGT) or impaired fasting glucose, group 3 late diabetes mellitus (DM) (DM diagnosed at year 15 or later), and group 4 early DM (DM diagnosed at year 0 to year 15). Among the subgroup without DM, 3 trajectory groups of change in the homeostasis model assessment of IR were identified: low IR, moderate IR, and high IR. LV mass, relative wall thickness, LV ejection fraction (LVEF), longitudinal systolic strain (Ell), and early diastolic strain rate (Ell_SRe) at year 25 were assessed by echocardiography. Clinically relevant systolic and diastolic dysfunction were defined as LVEF <50% for systolic dysfunction, and E/e >= 13 for diastolic dysfunction. RESULTS The early DM group had less favorable LV mass (coefficient =11.04; p < 0.001), LVEF (coefficient = 2.72; p < 0.05), ELL (coefficient = 1.53; p < 0.001), and Ell_SRe (coefficient = 0.09; p < 0.05) than did the NGT group. Being in the early DM group and having high hemoglobin Al, were independently associated with greater odds of having systolic dysfunction (odds ratio = 5.44; p < 0.005) compared with the NGT group. High IR was associated with worse relative wall thickness (coefficient = 0.019; p < 0.0001) and worse Ell, E', and Ell_SRe, depending on obesity level. CONCLUSIONS Cumulative exposure to DM or higher IR beginning in early adulthood adversely impacts LV remodeling and function at middle age. (C) 2017 by the American College of Cardiology Foundation. C1 [Kishi, Satoru; Venkatesh, Bharath A.; Armstrong, Anderson C.; Lima, Joao A. G.] Johns Hopkins Univ, Baltimore, MD USA. [Kishi, Satoru; Isogawa, Akihiro] Mitsui Mem Hosp, Tokyo, Japan. [Gidding, Samuel S.] Alfred I DuPont Hosp Children, Wilmington, DE USA. [Reis, Jared P.; Wu, Colin] NHLBI, Bethesda, MD 20892 USA. [Colangelo, Laura A.; Liu, Kiang] Northwestern Univ, Chicago, IL 60611 USA. [Lewis, Cora E.] Univ Alabama Birmingham, Birmingham, AL USA. [Jacobs, David R., Jr.] Univ Minnesota, Sch Publ Hlth, Minneapolis, MN USA. RP Lima, JAG (reprint author), Johns Hopkins Univ, Sch Med, Div Cardiol, 600 N Wolfe St,Blalock 524, Baltimore, MD 21287 USA. EM jlima@jhmi.edu FU National Heart, Lung, and Blood Institute (NHLBI) [HHSN268201300025C, HHSN268201300026C, HHSN268201300027C, HHSN268201300028C, HHSN268203300029C, HHSN268200900041C]; Intramural Research Program of the National Institute on Aging (NIA); NIA [AG0005]; NHLBI [AG0005]; National Heart, Lung, and Blood Institute; National Institutes of Health; Novo Nordisk FX The CARDIA study is supported by contracts HHSN268201300025C, HHSN268201300026C, HHSN268201300027C, HHSN268201300028C, HHSN268203300029C, and HHSN268200900041C from the National Heart, Lung, and Blood Institute (NHLBI), the Intramural Research Program of the National Institute on Aging (NIA), and an intro-agency agreement between NIA and NHLBI (AG0005). Dr. Gidding has received grants from the National Heart, Lung, and Blood Institute during the conduct of the study. Ms. Colangelo has received grants from the National Institutes of Health during the conduct of the study that were paid to Northwestern University. Dr. Lewis has received grants from the National Institutes of Health during the conduct of the study; and a research grant paid to the institution from Novo Nordisk. All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. NR 33 TC 2 Z9 2 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1936-878X EI 1876-7591 J9 JACC-CARDIOVASC IMAG JI JACC-Cardiovasc. Imag. PD FEB PY 2017 VL 10 IS 2 BP 105 EP 114 DI 10.1016/j.jcmg.2016.02.033 PG 10 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA EL9FV UT WOS:000394926500001 PM 27544896 ER PT J AU Hammer-Hansen, S Leung, SW Hsu, LY Wilson, JR Taylor, J Greve, AM Thune, JJ Kober, L Kellman, P Arai, AE AF Hammer-Hansen, Sophia Leung, Steve W. Hsu, Li-Yueh Wilson, Joel R. Taylor, Joni Greve, Anders M. Thune, Jens Jakob Kober, Lars Kellman, Peter Arai, Andrew E. TI Early Gadolinium Enhancement for Determination of Area at Risk A Preclinical Validation Study SO JACC-CARDIOVASCULAR IMAGING LA English DT Article DE acute myocardial infarction; area at risk; cardiac magnetic resonance; gadolinium enhancement ID ACUTE MYOCARDIAL-INFARCTION; EMISSION COMPUTED-TOMOGRAPHY; CORONARY-ARTERY OCCLUSION; STATE FREE PRECESSION; PERIINFARCTION ZONE; DELAYED ENHANCEMENT; DISTRIBUTION VOLUME; CONTRAST-MEDIA; ECHO-PLANAR; FOLLOW-UP AB OBJECTIVES The aim of this study was to determine whether early gadolinium enhancement (EGE) by cardiac magnetic resonance (CMR) in a canine model of reperfused myocardial infarction depicts the area at risk (AAR) as determined by microsphere blood flow analysis. BACKGROUND It remains controversial whether only the irreversibly injured myocardium enhances when CMR is performed in the setting of acute myocardial infarction. Recently, EGE has been proposed as a measure of the AAR in acute myocardial infarction because it correlates well with T2-weighted imaging of the AAR, but this still requires pathological validation. METHODS Eleven dogs underwent 2 h of coronary artery occlusion and 48 h of reperfusion before imaging at 1.5-T. EGE imaging was performed 3 min after contrast administration with coverage of the entire left ventricle. Late gadolinium enhancement imaging was performed between 10 and 15 min after contrast injection. AAR was defined as myocardium with blood flow <2 SD from remote myocardium determined by microspheres during occlusion. The size of infarction was determined with triphenyltetrazolium chloride. RESULTS There was no significant difference in the size of enhancement by EGE compared with the size of AAR by microspheres (44.1 +/- 15.8% vs. 42.7 +/- 9.2%; p = 0.61), with good correlation (r = 0.88; p < 0.001) and good agreement by Bland-Altman analysis (mean bias 1.4 +/- 17.4%). There was no difference in the size of enhancement by EGE compared with enhancement on native T1 and T2 maps. The size of EGE was significantly greater than the infarct by triphenyltetrazolium chloride (44.1 +/- 15.8% vs. 20.7 +/- 14.4%; p < 0.001) and late gadolinium enhancement (44.1 +/- 15.8% vs. 23.5 +/- 12.7%; p < 0.001). CONCLUSIONS At 3 min post-contrast, EGE correlated well with the AAR by microspheres and CMR and was greater than infarct size. Thus, EGE enhances both reversibly and irreversibly injured myocardium. (C) 2017 by the American College of Cardiology Foundation. C1 [Hammer-Hansen, Sophia; Leung, Steve W.; Hsu, Li-Yueh; Wilson, Joel R.; Taylor, Joni; Greve, Anders M.; Kellman, Peter; Arai, Andrew E.] NHLBI, Lab Adv Cardiovasc Imaging, NIH, Dept Hlth & Human Serv, Bethesda, MD 20892 USA. [Hammer-Hansen, Sophia; Thune, Jens Jakob; Kober, Lars] Rigshosp, Ctr Heart, Dept Med B, Copenhagen, Denmark. [Leung, Steve W.] Univ Kentucky, Dept Med & Radiol, Div Cardiovasc Med, Lexington, KY USA. [Wilson, Joel R.] Univ Calif San Diego, Dept Med & Radiol, Div Cardiovasc Med, San Diego, CA 92103 USA. RP Arai, AE (reprint author), NHLBI, NIH, Bldg 10,Room B1D416,MSC 1061,10 Ctr Dr, Bethesda, MD 20892 USA. EM araia@nih.gov FU Intramural Research Program of the National Heart, Lung, and Blood Institute, National Institutes of Health [Z01 HL006136-04, HL004607-16] FX This work was supported by the Intramural Research Program of the National Heart, Lung, and Blood Institute, National Institutes of Health (Z01 HL006136-04 and HL004607-16). Dr. Wilson is a consultant for Acutus Medical. Dr. Arai is a principal investigator on a U.S. government Cooperative Research and Development Agreement (CRADA) with Siemens Medical Solutions (HL-CR-05-010). All other authors have reported that they have no relationships relevant to the contents of this paper to disclose. NR 30 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1936-878X EI 1876-7591 J9 JACC-CARDIOVASC IMAG JI JACC-Cardiovasc. Imag. PD FEB PY 2017 VL 10 IS 2 BP 130 EP 139 DI 10.1016/j.jcmg.2016.04.009 PG 10 WC Cardiac & Cardiovascular Systems; Radiology, Nuclear Medicine & Medical Imaging SC Cardiovascular System & Cardiology; Radiology, Nuclear Medicine & Medical Imaging GA EL9FV UT WOS:000394926500005 PM 27665165 ER PT J AU Fogel, JM Clarke, W Kulich, M Piwowar-Manning, E Breaud, A Olson, MT Marzinke, MA Laeyendecker, O Fiamma, A Donnell, D Mbwambo, JKK Richter, L Gray, G Sweat, M Coates, TJ Eshleman, SH AF Fogel, Jessica M. Clarke, William Kulich, Michal Piwowar-Manning, Estelle Breaud, Autumn Olson, Matthew T. Marzinke, Mark A. Laeyendecker, Oliver Fiamma, Agnes Donnell, Deborah Mbwambo, Jessie K. K. Richter, Linda Gray, Glenda Sweat, Michael Coates, Thomas J. Eshleman, Susan H. TI Antiretroviral Drug Use in a Cross-Sectional Population Survey in Africa: NIMH Project Accept (HPTN 043) SO JAIDS-JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES LA English DT Article DE HIV; antiretroviral drug use; Africa ID SOUTH-AFRICA; SCALE-UP; HIV-1 INFECTION; THERAPY; TRIAL; PREVENTION; COVERAGE; MEDICATION; DIVERSION; OUTCOMES AB Background: Antiretroviral (ARV) drug treatment benefits the treated individual and can prevent HIV transmission. We assessed ARV drug use in a community-randomized trial that evaluated the impact of behavioral interventions on HIV incidence. Methods: Samples were collected in a cross-sectional survey after a 3-year intervention period. ARV drug testing was performed using samples from HIV-infected adults at 4 study sites (Zimbabwe; Tanzania; KwaZulu-Natal and Soweto, South Africa; survey period 2009-2011) using an assay that detects 20 ARV drugs (6 nucleoside/nucleotide reverse transcriptase inhibitors, 3 nonnucleoside reverse transcriptase inhibitors, and 9 protease inhibitors; maraviroc; raltegravir). Results: ARV drugs were detected in 2011 (27.4%) of 7347 samples; 88.1% had 1 nonnucleoside reverse transcriptase inhibitors 6 1-2 nucleoside/nucleotide reverse transcriptase inhibitors. ARV drug detection was associated with sex (women. men), pregnancy, older age (. 24 years), and study site (P < 0.0001 for all 4 variables). ARV drugs were also more frequently detected in adults who were widowed (P = 0.006) or unemployed (P = 0.02). ARV drug use was more frequent in intervention versus control communities early in the survey (P = 0.01), with a significant increase in control (P = 0.004) but not in intervention communities during the survey period. In KwaZulu-Natal, a 1% increase in ARV drug use was associated with a 0.14% absolute decrease in HIV incidence (P = 0.018). Conclusions: This study used an objective, biomedical approach to assess ARV drug use on a population level. This analysis identified factors associated with ARV drug use and provided information on C1 [Fogel, Jessica M.; Clarke, William; Piwowar-Manning, Estelle; Breaud, Autumn; Olson, Matthew T.; Marzinke, Mark A.; Eshleman, Susan H.] Johns Hopkins Univ Sch Med, Dept Pathol, 720 Rutland Ave,Room 646,Ross Bldg, Baltimore, MD 21205 USA. [Kulich, Michal] Charles Univ Prague, Fac Math & Phys, Dept Probabil & Stat, Prague, Czech Republic. [Laeyendecker, Oliver] Natl Inst Allergy & Infect Dis, Natl Inst Hlth, Div Intramural Res, Immunoregulat Lab, Baltimore, MD USA. [Laeyendecker, Oliver] Johns Hopkins Univ Sch Med, Dept Med, Baltimore, MD USA. [Fiamma, Agnes] Univ Calif Los Angeles, Program Global Hlth, Los Angeles, CA USA. [Donnell, Deborah] Fred Hutchinson Canc Res Ctr, Vaccine & Infect Dis Div, Seattle, WA USA. [Donnell, Deborah] Univ Washington, Dept Global Hlth, Seattle, WA USA. [Mbwambo, Jessie K. K.] Muhimbili Univ Hlth & Allied Sci, Muhimbili Univ Teaching Hosp, Dar Es Salaam, Tanzania. [Richter, Linda] Univ Witwatersrand, DST NRF Ctr Excellence Human Dev, Johannesburg, South Africa. [Gray, Glenda] Univ Witwatersrand, Chris Hani Baragwanath Hosp, Perinatal HIV Res Unit, Johannesburg, South Africa. [Gray, Glenda] South African Med Res Council, Cape Town, South Africa. [Sweat, Michael] Med Univ South Carolina, Dept Psychiat & Behav Sci, Charleston, SC USA. [Coates, Thomas J.] David Geffen Sch Med & UCLA Hlth, Ctr World Hlth, Los Angeles, CA USA. RP Fogel, JM (reprint author), Johns Hopkins Univ Sch Med, Dept Pathol, 720 Rutland Ave,Room 646,Ross Bldg, Baltimore, MD 21205 USA. EM seshlem@jhmi.edu FU National Institute of Allergy and Infectious Diseases (NIAID) of the National Institutes of Health [NIH]; National Institute of Mental Health (NMH) of the National Institutes of Health [NIH]; National Institute of Drug Abuse (NIDA), Office of AIDS Research, of the National Institutes of Health [NIH] [UM1-AI068613, UM1-AI068617, UM1-AI068619]; NIMH [U01-MH066687, U01-MH066688, U01-MH066701, U01-MH066702]; Division of Intramural Research, NIAID FX Supported by the following awards: the HIV Prevention Trials Network, sponsored by the National Institute of Allergy and Infectious Diseases (NIAID), the National Institute of Mental Health (NMH), and the National Institute of Drug Abuse (NIDA), Office of AIDS Research, of the National Institutes of Health [NIH, Grants UM1-AI068613 (S.H.E.); UM1-AI068617 (D.D.); and UM1-AI068619 (El-Sadr). Additional support for National Institute of Mental Health (NIMH) Project Accept (HPTN 043) was provided by the NIMH (U01-MH066687, U01-MH066688, U01-MH066701, and U01-MH066702). Additional support provided by the Division of Intramural Research, NIAID. NR 32 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1525-4135 EI 1077-9450 J9 JAIDS-J ACQ IMM DEF JI JAIDS PD FEB 1 PY 2017 VL 74 IS 2 BP 158 EP 165 PG 8 WC Immunology; Infectious Diseases SC Immunology; Infectious Diseases GA EN4SS UT WOS:000395997800011 PM 27828875 ER PT J AU Greenberg, AE Gordon, CM Purcell, DW AF Greenberg, Alan E. Gordon, Christopher M. Purcell, David W. TI Promotion of Research on the HIV Continuum of Care in the United States: The CFAR HIV Continuum of Care/ECHPP Working Group SO JAIDS-JOURNAL OF ACQUIRED IMMUNE DEFICIENCY SYNDROMES LA English DT Article DE Centers for AIDS Research; HIV continuum of care; academic-public health partnerships; ECHPP ID LINKAGE; PERCEPTIONS; SUPPORT; AIDS C1 [Greenberg, Alan E.] George Washington Univ, Milken Inst, Sch Publ Hlth, Dept Epidemiol & Biostat, 950 New Hampshire Ave,NW,5th Floor, Washington, DC 20052 USA. [Greenberg, Alan E.] Dist Columbia Ctr AIDS Res, Washington, DC USA. [Gordon, Christopher M.] NIMH, Div AIDS Res, Bethesda, MD 20892 USA. [Purcell, David W.] Ctr Dis Control & Prevent, Div HIV AIDS, Atlanta, GA USA. RP Greenberg, AE (reprint author), George Washington Univ, Milken Inst, Sch Publ Hlth, Dept Epidemiol & Biostat, 950 New Hampshire Ave,NW,5th Floor, Washington, DC 20052 USA. EM aeg1@gwu.edu FU National Institutes of Health [P30AI117970] FX Supported by funds from the National Institutes of Health to the District of Columbia Center for AIDS Research (P30AI117970). NR 51 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 1525-4135 EI 1077-9450 J9 JAIDS-J ACQ IMM DEF JI JAIDS PD FEB 1 PY 2017 VL 74 SU 2 BP S75 EP S80 PG 6 WC Immunology; Infectious Diseases SC Immunology; Infectious Diseases GA EN5BZ UT WOS:000396021900001 PM 28079716 ER PT J AU Gierach, GL Curtis, RE Pfeiffer, RM Mullooly, M Ntowe, EA Hoover, RN Nyante, SJ Feigelson, HS Glass, AG de Gonzalez, AB AF Gierach, Gretchen L. Curtis, Rochelle E. Pfeiffer, Ruth M. Mullooly, Maeve Ntowe, Estelle A. Hoover, Robert N. Nyante, Sarah J. Feigelson, Heather Spencer Glass, Andrew G. de Gonzalez, Amy Berrington TI Association of Adjuvant Tamoxifen and Aromatase Inhibitor Therapy With Contralateral Breast Cancer Risk Among US Women With Breast Cancer in a General Community Setting SO JAMA ONCOLOGY LA English DT Article ID ENDOCRINE THERAPY; AMERICAN SOCIETY; RANDOMIZED-TRIAL; METAANALYSIS; BENEFITS; UPDATE; IMPACT; AGE AB IMPORTANCE Within 10 years after breast cancer diagnosis, roughly 5% of patients develop contralateral breast cancer (CBC). Randomized trials have found that therapy including tamoxifen citrate and aromatase inhibitors (AIs) reduces CBC risk. But little is known about the magnitude and duration of protective associations within the context of real-world clinical management settings, where varying durations of and gaps in treatment are common. OBJECTIVE To determine the association between adjuvant tamoxifen and AI therapy and CBC risk within a general community setting. DESIGN, SETTING, AND PARTICIPANTS A retrospective cohort study of CBC risk among 7541 patients diagnosed with a first primary unilateral invasive breast cancer at Kaiser Permanente Institute for Health Research (Colorado) or Kaiser Permanente Northwest Center for Health Research (Oregon) between January 1, 1990, and December 31, 2008. Data were analyzed from 1 year after diagnosis of the first breast cancer through the earliest of the following events: CBC diagnosis, other second cancer diagnosis, death, last tumor registry follow-up, exit from the Kaiser Permanente health care plan, or end of study follow-up (December 31, 2010, for Oregon and December 31, 2011, for Colorado). EXPOSURES Adjuvant tamoxifen use and AI therapy were treated as time-dependent exposures, assessed using electronic prescription records. MAIN OUTCOMES AND MEASURES Incident CBC based on long-term systematic follow-up. RESULTS Among 7541 women with invasive breast cancer, median age at initial breast cancer diagnosis was 60.6 years (age range, 24.9-84.9 years). Women were predominantly (92.9% [7009 of 7541]) of white race. During a median of 6.3 years (range, 1-20.9 years) of follow-up, 248 women developed CBC (45 in situ and 203 invasive). Contralateral breast cancer risk decreased significantly with increasing tamoxifen therapy duration. In current users, the relative risk (RR) per year of tamoxifen use was 0.76 (95% CI, 0.64-0.89), with an estimated 66%(RR, 0.34; 95% CI, 0.29-0.40) RR reduction for 4 years of use compared with nonusers. Risk reductions were slightly smaller for past users but were still significant at least 5 years after stopping tamoxifen therapy (RR per year of use, 0.85; 95% CI, 0.71-0.995). In addition, AI use without tamoxifen therapy was associated with reduced CBC risk (RR for AI users compared with nonusers, 0.48; 95% CI, 0.22-0.97). Risk reductions were most apparent among women whose primary and CBCs were estrogen receptor positive. CONCLUSIONS AND RELEVANCE Tamoxifen therapy was associated with reduced CBC risk during treatment and after its cessation, with risk progressively decreasing as tamoxifen therapy duration increased. Among those surviving at least 5 years, tamoxifen use for at least 4 years was estimated to prevent 3 CBCs per 100 women by 10 years after an estrogen receptor-positive first breast cancer, an absolute risk reduction that is consistent with findings from clinical trials. If adjuvant endocrine therapy is indicated for breast cancer treatment, these findings in concert with trial data suggest that women should be encouraged to complete the full course. C1 [Gierach, Gretchen L.; Mullooly, Maeve] NCI, Metab Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr,Room 7-E108, Bethesda, MD 20892 USA. [Curtis, Rochelle E.; Ntowe, Estelle A.; de Gonzalez, Amy Berrington] NCI, Radiat Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Pfeiffer, Ruth M.] NCI, Biostat Branch, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Mullooly, Maeve] NCI, Canc Prevent Fellowship Program, Canc Prevent Div, NIH, Bethesda, MD 20892 USA. [Mullooly, Maeve; Hoover, Robert N.] NCI, Epidemiol & Biostat Program, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Nyante, Sarah J.] Univ N Carolina, Dept Radiol, Sch Med, Chapel Hill, NC USA. [Feigelson, Heather Spencer] Kaiser Permanente Inst Hlth Res, Denver, CO USA. [Glass, Andrew G.] Kaiser Permanente Northwest Ctr Hlth Res, Portland, OR USA. RP Gierach, GL (reprint author), NCI, Metab Epidemiol Branch, Div Canc Epidemiol & Genet, NIH, 9609 Med Ctr Dr,Room 7-E108, Bethesda, MD 20892 USA. EM gierachg@mail.nih.gov RI Gierach, Gretchen/E-1817-2016 OI Gierach, Gretchen/0000-0002-0165-5522 FU Intramural Research Program of the Division of Cancer Epidemiology and Genetics; National Cancer Institute; National Institutes of Health FX This work was supported by the Intramural Research Program of the Division of Cancer Epidemiology and Genetics, National Cancer Institute, National Institutes of Health. NR 33 TC 1 Z9 1 U1 0 U2 0 PU AMER MEDICAL ASSOC PI CHICAGO PA 330 N WABASH AVE, STE 39300, CHICAGO, IL 60611-5885 USA SN 2374-2445 J9 JAMA ONCOL JI JAMA Oncol. PD FEB 1 PY 2017 VL 3 IS 2 BP 186 EP 193 DI 10.1001/jamaoncol.2016.3340 PG 8 WC Oncology SC Oncology GA EM9PU UT WOS:000395644400008 ER PT J AU Peixoto, PM Teijido, O Mirzalieva, O Dejean, LM Pavlov, EV Antonsson, B Kinnally, KW AF Peixoto, Pablo M. Teijido, Oscar Mirzalieva, Oygul Dejean, Laurent M. Pavlov, Evgeny V. Antonsson, Bruno Kinnally, Kathleen W. TI MAC inhibitors antagonize the pro-apoptotic effects of tBid and disassemble Bax / Bak oligomers SO JOURNAL OF BIOENERGETICS AND BIOMEMBRANES LA English DT Article DE MAC inhibitors; Bax; Bak; tBid; Apoptosis; MOMP; Patch clamp ID OUTER MITOCHONDRIAL-MEMBRANE; CYTOCHROME-C RELEASE; INDUCED CHANNEL MAC; NEUROPROTECTIVE EFFICACY; AMINOPROPYL CARBAZOLES; MEDIATED APOPTOSIS; PROAPOPTOTIC BAX; BH3 DOMAINS; MOUSE MODEL; BINDING AB Mitochondrial Apoptotic Channel inhibitors or iMACs are di-bromocarbazole derivatives with anti-apoptotic function which have been tested and validated in several mouse models of brain injury and neurodegeneration. Owing to the increased therapeutic potential of these compounds, we sought to expand our knowledge of their mechanism of action. We investigated the kinetics of MAC inhibition in mitochondria from wild type, Bak, and Bax knockout cell lines using patch clamp electrophysiology, fluorescence microscopy, ELISA, and semiquantitative western blot analyses. Our results show that iMACs work through at least two mechanisms: 1) by blocking relocation of the cytoplasmic Bax protein to mitochondria and 2) by disassembling Bax and Bak oligomers in the mitochondrial outer membrane. iMACs exert comparable effects on channel conductance of Bax or Bak and similarly affect cytochrome c release from Bax or Bak-containing mitochondria. Interestingly, wild type mitochondria were more susceptible to inhibition than the Bak or Bax knockouts. Western blot analysis showed that wild type mitochondria had lower steady state levels of Bak in the absence of apoptotic stimulation. C1 [Peixoto, Pablo M.; Mirzalieva, Oygul] CUNY, Baruch Coll, New York, NY 10017 USA. [Peixoto, Pablo M.; Mirzalieva, Oygul] CUNY, Grad Ctr, New York, NY 10010 USA. [Dejean, Laurent M.] Calif State Univ Fresno, Dept Chem, Fresno, CA 93740 USA. [Peixoto, Pablo M.; Pavlov, Evgeny V.; Kinnally, Kathleen W.] NYU, Coll Dent, New York, NY 10010 USA. [Teijido, Oscar] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD 20892 USA. [Antonsson, Bruno] Merck Serono, Geneva Res Ctr, CH-1202 Geneva, Switzerland. RP Peixoto, PM (reprint author), CUNY, Baruch Coll, New York, NY 10017 USA.; Peixoto, PM (reprint author), CUNY, Grad Ctr, New York, NY 10010 USA.; Peixoto, PM (reprint author), NYU, Coll Dent, New York, NY 10010 USA. EM pablo.peixoto@baruch.cuny.edu FU NIH [GM57249]; [CUNY/CIRG-2265] FX This study was funded by CUNY/CIRG-2265 award to PMP, NIH award GM57249 to KK. We thank David Andrews (University of Toronto) for providing Smac-Cherry plasmids and Gorka Basanez (University of Basque Country) for the recombinant Bak protein. NR 42 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER/PLENUM PUBLISHERS PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 0145-479X EI 1573-6881 J9 J BIOENERG BIOMEMBR JI J. Bioenerg. Biomembr. PD FEB PY 2017 VL 49 IS 1 BP 65 EP 74 DI 10.1007/s10863-015-9635-7 PG 10 WC Biophysics; Cell Biology SC Biophysics; Cell Biology GA EM1HY UT WOS:000395069900007 PM 26698318 ER PT J AU Erkhembaatar, M Gu, DR Lee, SH Yang, YM Park, S Muallem, S Shin, DM Kim, MS AF Erkhembaatar, Munkhsoyol Gu, Dong Ryun Lee, Seoung Hoon Yang, Yu-Mi Park, Soonhong Muallem, Shmuel Shin, Dong Min Kim, Min Seuk TI Lysosomal Ca2+ Signaling is Essential for Osteoclastogenesis and Bone Remodeling SO JOURNAL OF BONE AND MINERAL RESEARCH LA English DT Article DE TRPML1; LYSOSOME; BONE REMODELING; OSTEOCLASTOGENESIS; CA(2+) SIGNALING ID MUCOLIPIDOSIS TYPE-IV; PLASMA-MEMBRANE; ENDOPLASMIC-RETICULUM; ABNORMAL TRANSPORT; RUFFLED BORDER; TRP CHANNEL; DIFFERENTIATION; TRAFFICKING; EXOCYTOSIS; RANKL AB Lysosomal Ca2+ emerges as a critical component of receptor-evoked Ca2+ signaling and plays a crucial role in many lysosomal and physiological functions. Lysosomal Ca2+ release is mediated by the transient receptor potential (TRP) family member TRPML1, mutations that cause the lysosomal storage disease mucolipidosis type 4. Lysosomes play a key role in osteoclast function. However, nothing is known about the role of lysosomal Ca2+ signaling in osteoclastogenesis and bone metabolism. In this study, we addressed this knowledge gap by studying the role of lysosomal Ca2+ signaling in osteoclastogenesis, osteoclast and osteoblast functions, and bone homeostasis in vivo. We manipulated lysosomal Ca2+ signaling by acute knockdown of TRPML1, deletion of TRPML1 in mice, pharmacological inhibition of lysosomal Ca2+ influx, and depletion of lysosomal Ca2+ storage using the TRPML agonist ML-SA1. We found that knockdown and deletion of TRPML1, although it did not have an apparent effect on osteoblast differentiation and bone formation, markedly attenuated osteoclast function, RANKL-induced cytosolic Ca2+ oscillations, inhibited activation of NFATc1 and osteoclastogenesis-controlling genes, suppressed the formation of tartrate-resistant acid phosphatase (TRAP)-positive multinucleated cells (MNCs), and markedly reduced the differentiation of bone marrow-derived macrophages into osteoclasts. Moreover, deletion of TRPML1 resulted in enlarged lysosomes, inhibition of lysosomal secretion, and attenuated the resorptive activity of mature osteoclasts. Notably, depletion of lysosomal Ca2+ with ML-SA1 similarly abrogated RANKL-induced Ca2+ oscillations and MNC formation. Deletion of TRPML1 in mice reduced the TRAP-positive bone surfaces and impaired bone remodeling, resulting in prominent osteopetrosis. These findings demonstrate the essential role of lysosomal Ca2+ signaling in osteoclast differentiation and mature osteoclast function, which play key roles in bone homeostasis. (C) 2016 American Society for Bone and Mineral Research. C1 [Erkhembaatar, Munkhsoyol; Kim, Min Seuk] Wonkwang Univ, Dept Oral Physiol, Coll Dent, Iksan 54538, South Korea. [Erkhembaatar, Munkhsoyol; Kim, Min Seuk] Wonkwang Univ, Inst Biomat Implant, Coll Dent, Iksan 54538, South Korea. [Erkhembaatar, Munkhsoyol] Mongolian Natl Univ Med Sci, Dept Physiol, Sch Pharm & Biomed, Ulaanbaatar, Mongol Peo Rep. [Gu, Dong Ryun; Lee, Seoung Hoon] Wonkwang Univ, Sch Med, CMFR, Iksan, South Korea. [Gu, Dong Ryun; Lee, Seoung Hoon] Wonkwang Univ, Dept Oral Microbiol & Immunol, Coll Dent, Iksan, South Korea. [Yang, Yu-Mi; Park, Soonhong; Shin, Dong Min] Yonsei Univ, Coll Dent, Dept Oral Biol, PLUS Project BK21, Seoul 120752, South Korea. [Muallem, Shmuel] Natl Inst Dent & Craniofacial Res, Epithelial Signaling & Transport Sect, Mol Physiol & Therapeut Branch, NIH, Bethesda, MD USA. RP Kim, MS (reprint author), Wonkwang Univ, Dept Oral Physiol, Coll Dent, Iksan 54538, South Korea.; Kim, MS (reprint author), Wonkwang Univ, Inst Biomat Implant, Coll Dent, Iksan 54538, South Korea.; Shin, DM (reprint author), Yonsei Univ, Coll Dent, Dept Oral Biol, PLUS Project BK21, Seoul 120752, South Korea. EM DMSHIN@yuhs.ac; happy1487@wku.ac.kr FU National Research Foundation of Korea (NRF) [NRF-2015R1D1A1A01058272, NRF-2015R1A2A1A15054157]; Ministry of Education, Science and Technology; Ministry of Science, ICT, and Future Planning in Republic of Korea; NIH, NIDCR intramural grant [DE000735-06] FX This work was supported by the National Research Foundation of Korea (NRF) grants (NRF-2015R1D1A1A01058272 and NRF-2015R1A2A1A15054157); Ministry of Education, Science and Technology and Ministry of Science, ICT, and Future Planning in Republic of Korea; and by NIH, NIDCR intramural grant DE000735-06. NR 55 TC 0 Z9 0 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0884-0431 EI 1523-4681 J9 J BONE MINER RES JI J. Bone Miner. Res. PD FEB PY 2017 VL 32 IS 2 BP 385 EP 396 DI 10.1002/jbmr.2986 PG 12 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA EO8JL UT WOS:000396935300020 PM 27589205 ER PT J AU Gonzalez-Freire, M Semba, RD Ubaida-Mohien, C Fabbri, E Scalzo, P Hojlund, K Dufresne, C Lyashkov, A Ferrucci, L AF Gonzalez-Freire, Marta Semba, Richard D. Ubaida-Mohien, Ceereena Fabbri, Elisa Scalzo, Paul Hojlund, Kurt Dufresne, Craig Lyashkov, Alexey Ferrucci, Luigi TI The Human Skeletal Muscle Proteome Project: a reappraisal of the current literature SO JOURNAL OF CACHEXIA SARCOPENIA AND MUSCLE LA English DT Review DE Ageing; Skeletal muscle; Proteomics; Mass spectrometry; Post-translational modifications ID AMYOTROPHIC-LATERAL-SCLEROSIS; MASS-SPECTROMETRY; POSTTRANSLATIONAL MODIFICATIONS; BED REST; ADAPTIVE THERMOGENESIS; LASER MICRODISSECTION; GEL-ELECTROPHORESIS; INSULIN-RESISTANCE; OLDER-ADULTS; EXERCISE AB Skeletal muscle is a large organ that accounts for up to half the total mass of the human body. A progressive decline in muscle mass and strength occurs with ageing and in some individuals configures the syndrome of sarcopenia', a condition that impairs mobility, challenges autonomy, and is a risk factor for mortality. The mechanisms leading to sarcopenia as well as myopathies are still little understood. The Human Skeletal Muscle Proteome Project was initiated with the aim to characterize muscle proteins and how they change with ageing and disease. We conducted an extensive review of the literature and analysed publically available protein databases. A systematic search of peer-reviewed studies was performed using PubMed. Search terms included human', skeletal muscle', proteome', proteomic(s)', and mass spectrometry', liquid chromatography-mass spectrometry (LC-MS/MS)'. A catalogue of 5431 non-redundant muscle proteins identified by mass spectrometry-based proteomics from 38 peer-reviewed scientific publications from 2002 to November 2015 was created. We also developed a nosology system for the classification of muscle proteins based on localization and function. Such inventory of proteins should serve as a useful background reference for future research on changes in muscle proteome assessed by quantitative mass spectrometry-based proteomic approaches that occur with ageing and diseases. This classification and compilation of the human skeletal muscle proteome can be used for the identification and quantification of proteins in skeletal muscle to discover new mechanisms for sarcopenia and specific muscle diseases that can be targeted for the prevention and treatment. C1 [Gonzalez-Freire, Marta; Ubaida-Mohien, Ceereena; Fabbri, Elisa; Scalzo, Paul; Lyashkov, Alexey; Ferrucci, Luigi] NIA, NIH, Baltimore, MD 21224 USA. [Semba, Richard D.] Johns Hopkins Univ, Sch Med, Wilmer Eye Inst, Baltimore, MD 21205 USA. [Hojlund, Kurt] Odense Univ Hosp, Dept Endocrinol, Odense, Denmark. [Hojlund, Kurt] Univ Southern Denmark, Inst Clin Res, Odense, Denmark. [Hojlund, Kurt] Univ Southern Denmark, Inst Mol Med, Odense, Denmark. [Dufresne, Craig] Thermo Fisher Sci, W Palm Beach, FL USA. RP Ferrucci, L (reprint author), NIA, NIH, Baltimore, MD 21224 USA. EM ferruccilu@mail.nih.gov FU National Institutes of Health (NIH) [R01 AG027012]; Intramural Research Program (IRP) of the National Institute on Aging (NIA) FX National Institutes of Health (NIH) (grants R01 AG027012); Intramural Research Program (IRP) of the National Institute on Aging (NIA). NR 104 TC 1 Z9 1 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 2190-5991 EI 2190-6009 J9 J CACHEXIA SARCOPENI JI J. Caxhexia Sarcopenia Muscle PD FEB PY 2017 VL 8 IS 1 BP 5 EP 18 DI 10.1002/jcsm.12121 PG 14 WC Medicine, General & Internal SC General & Internal Medicine GA EM0FJ UT WOS:000394993900002 PM 27897395 ER PT J AU Huang, J Mei, Y Konig, G Simmonett, AC Pickard, FC Wu, Q Wang, LP MacKerell, AD Brooks, BR Shao, YH AF Huang, Jing Mei, Ye Koenig, Gerhard Simmonett, Andrew C. Pickard, Frank C. Wu, Qin Wang, Lee-Ping MacKerell, Alexander D., Jr. Brooks, Bernard R. Shao, Yihan TI An Estimation of Hybrid Quantum Mechanical Molecular Mechanical Polarization Energies for Small Molecules Using Polarizable Force-Field Approaches SO JOURNAL OF CHEMICAL THEORY AND COMPUTATION LA English DT Article ID INTERMOLECULAR POTENTIAL FUNCTION; FLUCTUATING CHARGE; DYNAMICS SIMULATIONS; ATOMIC CHARGES; ELECTROSTATIC POTENTIALS; LIQUID WATER; ELECTRONEGATIVITY EQUALIZATION; DISTRIBUTED POLARIZABILITIES; AQUEOUS-SOLUTION; ORBITAL METHODS AB In this work, we report two polarizable molecular mechanics (polMM) force field models for estimating the polarization energy in hybrid quantum mechanical molecular mechanical (QM/MM) calculations. These two models, named the potential of atomic charges (PAC) and potential of atomic dipoles (PAD), are formulated from the ab initio quantum mechanical (QM) response kernels for the prediction of the QM density response to an external molecular mechanical (MM) environment (as described by external point charges). The PAC model is similar to fluctuating charge (FQ) models because the energy depends on external electrostatic potential values at QM atomic sites; the PAD energy depends on external electrostatic field values at QM atomic sites, resembling induced dipole (ID) models. To demonstrate their uses, we apply the PAC and PAD models to 12 small molecules, which are solvated by TIP3P water. The PAC model reproduces the QM/MM polarization energy with a R-2 value of 0.71 for aniline (in 10,000 TIP3P water configurations) and 0.87 or higher for other 11 solute molecules, while the PAD model has a much better performance with R-2 values of 0.98 or higher. The PAC model reproduces reference QM/MM hydration free energies for 12 solute molecules with a RMSD of 0.59 kcal/mol. The PAD model is even more accurate, with a much smaller RMSD of 0.12 kcal/mol, with respect to the reference. This suggests that polarization effects, including both local charge distortion and intramolecular charge transfer, can be well captured by induced dipole type models with proper parametrization. C1 [Huang, Jing; MacKerell, Alexander D., Jr.] Univ Maryland, Sch Pharm, Dept Pharmaceut Sci, 20 Penn St, Baltimore, MD 21201 USA. [Huang, Jing; Simmonett, Andrew C.; Pickard, Frank C.; Brooks, Bernard R.] NHLBI, Lab Computat Biol, NIH, 5635 Fishers Lane,T-900 Suite, Rockville, MD 20852 USA. [Mei, Ye] East China Normal Univ, Sch Phys & Mat Sci, State Key Lab Precis Spect, Shanghai 200062, Peoples R China. [Mei, Ye] NYU Shanghai, NYU ECNU Ctr Computat Chem, Shanghai 200062, Peoples R China. [Koenig, Gerhard] Max Planck Inst Kohlenforsch, D-45470 Mulheim, NRW, Germany. [Wu, Qin] Brookhaven Natl Lab, Ctr Funct Nanomat, Upton, NY 11973 USA. [Wang, Lee-Ping] Univ Calif Davis, Dept Chem, 1 Shields Ave, Davis, CA 95616 USA. [Shao, Yihan] Q Chem Inc, 6601 Owens Dr,Suite 105, Pleasanton, CA 94588 USA. [Shao, Yihan] Univ Oklahoma, Dept Chem & Biochem, Norman, OK 73019 USA. RP Shao, YH (reprint author), Q Chem Inc, 6601 Owens Dr,Suite 105, Pleasanton, CA 94588 USA.; Shao, YH (reprint author), Univ Oklahoma, Dept Chem & Biochem, Norman, OK 73019 USA. EM yihan.shao@ou.edu RI Huang, Jing/G-5320-2011; MEI, Ye/C-5843-2009; OI Huang, Jing/0000-0001-9639-2907; MEI, Ye/0000-0002-3953-8508; MacKerell, Alex/0000-0001-8287-6804 FU NIH [GM096678-02, GM072558, GM051501]; DOE [DE-SC0011297]; University of Oklahoma; NIH, NHLBI; DOE Office of Science [DE-SC0012704] FX Y.S. acknowledges financial support by NIH Grant GM096678-02, DOE Grant No. DE-SC0011297, and the University of Oklahoma startup fund. A.D.M. acknowledges partial support from NIH Grants GM072558 and GM051501. J.H., G.K., A.C.S., F.C.P., and B.R.B. are supported by the Intramural Research Program of the NIH, NHLBI. Computational resources and services used in this work were provided by the LoBoS cluster of the National Institutes of Health, the OU Supercomputing Center for Education and Research, and the Center of Functional Nanomaterials at the Brookhaven National Laboratory supported by DOE Office of Science under Contract No. DE-SC0012704. NR 107 TC 0 Z9 0 U1 2 U2 2 PU AMER CHEMICAL SOC PI WASHINGTON PA 1155 16TH ST, NW, WASHINGTON, DC 20036 USA SN 1549-9618 EI 1549-9626 J9 J CHEM THEORY COMPUT JI J. Chem. Theory Comput. PD FEB PY 2017 VL 13 IS 2 BP 679 EP 695 DI 10.1021/acs.jctc.6b01125 PG 17 WC Chemistry, Physical; Physics, Atomic, Molecular & Chemical SC Chemistry; Physics GA EL9EZ UT WOS:000394924000026 PM 28081366 ER PT J AU Findling, RL Townsend, L Brown, NV Arnold, LE Gadow, KD Kolko, DJ McNamara, NK Gary, DS Kaplin, DB Farmer, CA Kipp, H Williams, C Butter, EM Bukstein, OG Rice, R Buchan-Page, K Molina, BSG Aman, MG AF Findling, Robert L. Townsend, Lisa Brown, Nicole V. Arnold, L. Eugene Gadow, Kenneth D. Kolko, David J. McNamara, Nora K. Gary, Devin S. Kaplin, Dana B. Farmer, Cristan A. Kipp, Heidi Williams, Craig Butter, Eric M. Bukstein, Oscar G. Rice, Robert, Jr. Buchan-Page, Kristin Molina, Brooke S. G. Aman, Michael G. TI The Treatment of Severe Childhood Aggression Study: 12 Weeks of Extended, Blinded Treatment in Clinical Responders SO JOURNAL OF CHILD AND ADOLESCENT PSYCHOPHARMACOLOGY LA English DT Article DE disruptive behavior disorders; stimulant; clinical trial; aggression ID DISRUPTIVE BEHAVIOR DISORDERS; FOLLOW-UP; DEFICIT/HYPERACTIVITY DISORDER; STIMULANT MEDICATION; RATING-SCALE; RISPERIDONE; CHILDREN; ADHD; MTA; IQ AB Objectives: Previous ''Treatment of Severe Childhood Aggression'' (TOSCA) reports demonstrated that many children with severe physical aggression and attention-deficit/hyperactivity disorder (ADHD) responded well to two randomized treatments (parent training [PT]+stimulant+placebo = Basic vs. PT+stimulant+risperidone = Augmented) for 9 weeks. An important clinical question is whether these favorable outcomes are maintained over longer times. Methods: Clinical responders to the 9-week trial (n = 103/168), defined as Clinical Global Impressions (CGI)-Improvement of much/very much improved plus substantial reduction in parent ratings of disruptiveness, were followed another 12 weeks (21 weeks total) while remaining on blinded treatment. Outcome measures included Clinical Global Impressions scale, Nisonger Child Behavior Rating Form (NCBRF), other parent/teacher-rated scales, laboratory tests, clinician ratings of abnormal movement, and other adverse events (AEs). Results: Parent ratings of problem behavior showed minimal worsening of behavior from end of the 9-week acute trial (expected from regression to the mean after selecting best responders), but outcomes at Extension endpoint were meaningfully improved compared with acute study baseline. As expected, outcomes for Basic and Augmented treatment did not differ among these children selected for good clinical response. During Extension, more Augmented subjects had elevated prolactin; there were no clinically confirmed cases of tardive dyskinesia. Delayed sleep onset was the most frequent Basic AE. We also conducted a last-observation-carried-forward analysis, which included both nonresponders and responders. We found that, at the end of Extension, Augmented subjects had more improvement than Basic subjects on the NCBRF Positive Social subscale (p = 0.005; d = 0.44), the Antisocial Behavior Scale Reactive Aggression subscale (p = 0.03; d = 0.36), and marginally so on the Disruptive Behavior Total subscale (p = 0.058; d = 0.29, the primary outcome). Conclusions: The medium-term outcomes were good for the participants in both treatment groups, perhaps because they were selected for good response. When nonresponders were included in ITT analyses, there was some indication that Augmented surpassed Basic treatment. C1 [Findling, Robert L.; Townsend, Lisa; Kaplin, Dana B.] Johns Hopkins Univ, Div Child & Adolescent Psychiat, Baltimore, MD USA. [Findling, Robert L.; Gary, Devin S.] Kennedy Krieger Inst, Dept Psychiat, Baltimore, MD USA. [Townsend, Lisa] Johns Hopkins Bloomberg Sch Publ Hlth, Dept Mental Hlth, Baltimore, MD USA. [Brown, Nicole V.] Ohio State Univ, Med Ctr, Ctr Biostat, Columbus, OH 43210 USA. [Arnold, L. Eugene] Ohio State Univ, Dept Psychiat, Columbus, OH 43210 USA. [Gadow, Kenneth D.] SUNY Stony Brook, Dept Psychiat, Stony Brook, NY 11794 USA. [Kolko, David J.; Kipp, Heidi; Molina, Brooke S. G.] Univ Pittsburgh, Sch Med, Dept Psychiat & Psychol, Pittsburgh, PA USA. [McNamara, Nora K.] Case Western Reserve Univ, Dept Psychiat, Cleveland, OH 44106 USA. [Farmer, Cristan A.] NIMH, Pediat & Dev Neurosci Branch, Bethesda, MD 20892 USA. [Williams, Craig; Rice, Robert, Jr.; Buchan-Page, Kristin; Aman, Michael G.] Ohio State Univ, Nisonger Ctr UCEDD, Columbus, OH 43210 USA. [Butter, Eric M.] Nationwide Childrens Hosp, Div Pediat Psychol & Neuropsychol, Columbus, OH USA. [Bukstein, Oscar G.] Harvard Univ, Childrens Hosp, Boston, MA 02115 USA. RP Findling, RL (reprint author), Div Child & Adolescent Psychiat, 1800 Orleans St,12344-A, Baltimore, MD 21287 USA. EM rfindli1@jhmi.edu FU National Institute of Mental Health (NIMH) [R01 MH077907]; Case Western Reserve University [R01 MH077750]; University of Pittsburgh [R01 MH077676]; Stony Brook University [R01 MH 077997]; National Institutes of Health (NIH) General Clinical Research Center [M01RR10710]; National Center for Advancing Translational Sciences [8UL1TR000090-05, UL1 RR024153, UL1TR000005] FX This study was supported by grants from National Institute of Mental Health (NIMH) to The Ohio State University (R01 MH077907), Case Western Reserve University (R01 MH077750), the University of Pittsburgh (R01 MH077676), and Stony Brook University (R01 MH 077997). The project was supported by a National Institutes of Health (NIH) General Clinical Research Center grant M01RR10710 (State University of New York Stony Brook) and Clinical and Translational Science Awards from the National Center for Advancing Translational Sciences grants 8UL1TR000090-05 (The Ohio State University) and UL1 RR024153 and UL1TR000005 (University of Pittsburgh). NR 26 TC 0 Z9 0 U1 0 U2 0 PU MARY ANN LIEBERT, INC PI NEW ROCHELLE PA 140 HUGUENOT STREET, 3RD FL, NEW ROCHELLE, NY 10801 USA SN 1044-5463 EI 1557-8992 J9 J CHILD ADOL PSYCHOP JI J. Child Adolesc. Psychopharmacol. PD FEB PY 2017 VL 27 IS 1 BP 52 EP 65 DI 10.1089/cap.2016.0081 PG 14 WC Pediatrics; Pharmacology & Pharmacy; Psychiatry SC Pediatrics; Pharmacology & Pharmacy; Psychiatry GA EL1JJ UT WOS:000394376300008 PM 28212067 ER PT J AU Blaychfeld-Magnazi, M Knobler, H Voet, H Reshef, N Weitzman, S Sumner, AE Zornitzki, T AF Blaychfeld-Magnazi, Moran Knobler, Hilla Voet, Hillary Reshef, Naama Weitzman, Shimon Sumner, Anne E. Zornitzki, Taiba TI Ethnic Variation in the Association of Hypertension With Type 2 Diabetes SO JOURNAL OF CLINICAL HYPERTENSION LA English DT Article ID BLOOD-PRESSURE; HEART-DISEASE; FOOD-FREQUENCY; RISK-FACTORS; COMPLICATIONS; PREVALENCE; ORIGIN; IMPACT; WOMEN; STYLE AB Lifestyle changes occurring with urbanization increase the prevalence of both type 2 diabetes mellitus (T2DM) and hypertension (HTN). Yemenites who have immigrated to Israel have demonstrated a dramatic increase in T2DM but the prevalence of HTN in diabetic Yemenites is unclear. In a cross-sectional study, the authors evaluated the prevalence of HTN and lifestyle patterns in Israelis with T2DM of Yemenite (Y-DM) and non-Yemenite (NY-DM) origin. Y-DM (n=63) and NY-DM (n=120) had similar age (63 +/- 7 vs 64 +/- 7 years, P=.5), diabetes duration, diet adherence, and exercise patterns. Y-DM had a lower prevalence of HTN (63%) than NY-DM (83%) (P<.01). Furthermore, Yemenite origin was independently associated with lower prevalence of HTN (odds ratio, 0.3; 95% confidence interval, 0.12-0.71). Blood pressure was well controlled with fewer antihypertensive medications in Y-DM than NY-DM (P<.01). Even though lifestyle patterns were similar in the two groups, Y-DM had a lower prevalence of HTN compared with NY-DM and required fewer antihypertensive medications. C1 [Blaychfeld-Magnazi, Moran; Knobler, Hilla; Reshef, Naama; Zornitzki, Taiba] Hebrew Univ Jerusalem, Med Sch Jerusalem, Kaplan Med Ctr, Diabet Endocrinol & Metab Dis Inst, Rehovot, Israel. [Blaychfeld-Magnazi, Moran] Hebrew Univ Jerusalem, Robert H Smith Fac Agr Food & Environm, Inst Biochem Food Sci & Nutr, Rehovot, Israel. [Voet, Hillary] Hebrew Univ Jerusalem, Robert H Smith Fac Agr Food & Environm, Dept Environm Econ & Management, Rehovot, Israel. [Weitzman, Shimon] Ben Gurion Univ Negev, Dept Epidemiol, Beer Sheva, Israel. [Sumner, Anne E.] NIDDK, Bethesda, MD 20892 USA. [Sumner, Anne E.] Natl Inst Minor Hlth & Hlth Dispar, NIH, Bethesda, MD USA. RP Zornitzki, T (reprint author), Hebrew Univ Jerusalem, Sch Med, Diabet Metab & Endocrinol Unit, Kaplan Med Ctr, Bilu1, Rehovot, Israel. EM lior_zo@zahav.net.il FU NIDDK; NIMHD FX Anne E. Sumner is supported by the intramural program of both NIDDK and NIMHD. NR 28 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1524-6175 EI 1751-7176 J9 J CLIN HYPERTENS JI J. Clin. Hypertens. PD FEB PY 2017 VL 19 IS 2 BP 184 EP 189 DI 10.1111/jch.12883 PG 6 WC Peripheral Vascular Disease SC Cardiovascular System & Cardiology GA EL3GP UT WOS:000394507900012 PM 27481649 ER PT J AU Paukner, A Wooddell, LJ Lefevre, CE Lonsdorf, E Lonsdorf, E AF Paukner, Annika Wooddell, Lauren J. Lefevre, Carmen E. Lonsdorf, Eric Lonsdorf, Elizabeth TI Do Capuchin Monkeys (Sapajus apella) Prefer Symmetrical Face Shapes? SO JOURNAL OF COMPARATIVE PSYCHOLOGY LA English DT Article DE faces; symmetry; mate choice; male-male competition; primates ID FLUCTUATING ASYMMETRY; SEXUAL-DIMORPHISM; DEVELOPMENTAL STABILITY; FACIAL ATTRACTIVENESS; METAANALYSIS; PERCEPTION; SELECTION; ORNAMENTS; ATTENTION; QUALITY AB In humans, facial symmetry has been linked to an individual's genetic quality, and facial symmetry has a small yet significant effect on ratings of facial attractiveness. The same evolutionary processes underlying these phenomena may also convey a selective advantage to symmetrical individuals of other primate species, yet to date, few studies have examined sensitivity to facial symmetry in nonhuman primates. Here we presented images of symmetrical and asymmetrical human and monkey faces to tufted capuchin monkeys (Sapajus apella) and hypothesized that capuchins would visually prefer symmetrical faces of opposite-sex conspecifics. Instead, we found that male capuchins preferentially attended to symmetrical male conspecific faces, whereas female capuchins did not appear to discriminate between symmetrical and asymmetrical faces. These results suggest that male capuchin monkeys may use facial symmetry to judge male quality in intramale competition. C1 [Paukner, Annika; Wooddell, Lauren J.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Comparat Ethol Lab, Poolesville, MD USA. [Lefevre, Carmen E.] UCL, Ctr Behav Change, London, England. [Lonsdorf, Eric] Franklin & Marshall Coll, Dept Biol, Lancaster, PA 17604 USA. [Lonsdorf, Elizabeth] Franklin & Marshall Coll, Dept Psychol, Biol Fdn Behav Program, Lancaster, PA 17604 USA. RP Paukner, A (reprint author), NIH, Anim Ctr, POB 529, Poolesville, MD 20837 USA. EM pauknera@mail.nih.gov FU Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development FX This research was supported by the Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development. We thank Neal Marquez, Patrick Robbins, Jenny Friedman, and the animal care staff at both facilities for their assistance conducting this study. NR 30 TC 0 Z9 0 U1 1 U2 1 PU AMER PSYCHOLOGICAL ASSOC PI WASHINGTON PA 750 FIRST ST NE, WASHINGTON, DC 20002-4242 USA SN 0735-7036 EI 1939-2087 J9 J COMP PSYCHOL JI J. Comp. Psychol. PD FEB PY 2017 VL 131 IS 1 BP 73 EP 77 DI 10.1037/com0000052 PG 5 WC Behavioral Sciences; Psychology; Psychology, Multidisciplinary; Zoology SC Behavioral Sciences; Psychology; Zoology GA EM8HU UT WOS:000395552900009 PM 28182489 ER PT J AU Noveiry, BB Hirbod-Mobarakeh, A Khalili, N Hourshad, N Greten, TF Abou-Alfa, GK Rezaei, N AF Noveiry, Behnoud Baradaran Hirbod-Mobarakeh, Armin Khalili, Nastaran Hourshad, Niloufar Greten, Tim F. Abou-Alfa, Ghassan K. Rezaei, Nima TI Specific immunotherapy in hepatocellular cancer: A systematic review SO JOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY LA English DT Review DE active immunotherapy; clinical outcomes; hepatocellular carcinoma; immunotherapy; meta-analysis; passive immunotherapy; systematic review; vaccines ID INDUCED KILLER-CELLS; LYMPHOKINE-ACTIVATED KILLER; TUMOR VACCINE; POSTSURGICAL RECURRENCE; ADOPTIVE IMMUNOTHERAPY; LIVER-TRANSPLANTATION; CARCINOMA PATIENTS; RANDOMIZED-TRIAL; PHASE-II; THERAPY AB Background and AimIn recent years, several novel immunotherapeutic approaches were developed and investigated in patients with hepatocellular carcinoma (HCC). We designed this systematic review, to evaluate clinical efficacy of specific immunotherapy in patients with HCC, according to the guidelines of Border of Immune Tolerance Education and Research Network (BITERN) and Cochrane collaboration. MethodsWe searched Medline, Scopus, CENTRAL, TRIP, DART, OpenGrey, and ProQuest through the 9th of December 2015. One author reviewed and retrieved citations from these seven databases for irrelevant and duplicate studies, and two other authors independently extracted data from the studies and rated their quality. We collated study findings and calculated a weighted treatment effect across studies using Review Manager. ResultsWe found 12144 references in seven databases of which 21 controlled studies with 1885 HCC patients in different stages were included in this systematic review after the primary and secondary screenings. Overall, patients undergoing specific immunotherapy had significantly higher overall survival than those in control group (HR=0.59; 95% CI=0.47-0.76, P<0.0001). There was a significant difference in recurrence-free survival between patients undergoing specific immunotherapy and patients in control groups and patients in immunotherapy groups overall had less recurrence than control group (HR=0.54; 95% CI=0.46-0.63, P<0.00001). ConclusionsResults of this systematic review based on the available literature suggest that overall specific immunotherapeutic approaches could be beneficiary for the treatment of patients with HCC. This further supports the current and ongoing evaluations of specific immunotherapies in the field. C1 [Noveiry, Behnoud Baradaran; Hirbod-Mobarakeh, Armin; Khalili, Nastaran; Hourshad, Niloufar; Rezaei, Nima] USERN, BITERN, Tehran, Iran. [Hirbod-Mobarakeh, Armin; Rezaei, Nima] Univ Tehran Med Sci, Sch Med, Dept Immunol, Mol Immunol Res Ctr, Tehran, Iran. [Hirbod-Mobarakeh, Armin; Rezaei, Nima] Univ Tehran Med Sci, Res Ctr Immunodeficiencies, Childrens Med Ctr, Tehran, Iran. [Greten, Tim F.] NCI, Gastrointestinal Malignancy Sect, Thorac & Gastrointestinal Oncol Branch, Ctr Canc Res,NIH, Bethesda, MD 20892 USA. [Abou-Alfa, Ghassan K.] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA. [Abou-Alfa, Ghassan K.] Weill Cornell Med Coll, New York, NY USA. [Rezaei, Nima] USERN, Systemat Review & Meta Anal Expert Grp SRMEG, Sheffield, S Yorkshire, England. RP Rezaei, N (reprint author), Childrens Med Ctr Hosp, Res Ctr Immunodeficiencies, Dr Qarib St,Keshavarz Blvd, Tehran 14194, Iran. EM rezaei_nima@tums.ac.ir NR 42 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0815-9319 EI 1440-1746 J9 J GASTROEN HEPATOL JI J. Gastroenterol. Hepatol. PD FEB PY 2017 VL 32 IS 2 BP 339 EP 351 DI 10.1111/jgh.13449 PG 13 WC Gastroenterology & Hepatology SC Gastroenterology & Hepatology GA EM9RQ UT WOS:000395649200010 ER PT J AU Kuah, LF Tang, LH Sutton, T Lim, JH Sin, WL Lamirande, E Subbarao, K Lau, YF AF Kuah, Li-Fang Tang, Lay-Hoon Sutton, Troy Lim, Jie-Hui Sin, Wan-Ling Lamirande, Elaine Subbarao, Kanta Lau, Yuk-Fai TI Induction of protective immunity against influenza A/JiangxiDonghu/346/2013 ( H10N8) in mice SO JOURNAL OF GENERAL VIROLOGY LA English DT Article ID LIVE POULTRY MARKETS; RECEPTOR-BINDING; GUANGDONG PROVINCE; VIRUS-REPLICATION; HUMAN ISOLATE; MINK LUNG; A VIRUS; VACCINE; SYSTEM; CHINA AB Human infections with A/Jiangxi-Donghu/346/2013 (H10N8) virus have raised concerns about its pandemic potential. In order to develop a vaccine against this virus, the immunogenicity of its haemagglutinin protein was evaluated in mice. Using both whole-virion and recombinant subunit protein vaccines, we showed that two doses of either vaccine elicited neutralizing antibody responses. The protective efficacy of the vaccine-induced responses was assessed using a reverse-geneticsderived H10 reassortant virus on the A/Puerto Rico/8/34 (H1N1) backbone. The reassortant virus replicated efficiently in the respiratory tract of unvaccinated mice whereas vaccinated mice were completely protected from challenge, with no detectable viral load in the lower respiratory tract. Finally, the serum neutralizing antibody responses elicited by the H10 vaccines also exhibited cross-neutralizing activity against three heterologous wild-type H10 viruses. Collectively, these findings demonstrate that different vaccine platforms presenting the H10 haemagglutinin protein induce protective immunity. C1 [Kuah, Li-Fang; Tang, Lay-Hoon; Lim, Jie-Hui; Lau, Yuk-Fai] DSO Natl Labs, Host Pathogen Interact Lab, 27 Med Dr, Singapore 117510, Singapore. [Sutton, Troy; Lamirande, Elaine; Subbarao, Kanta] NIH, NIAID, Infect Dis Lab, Bethesda, MD 20892 USA. [Sin, Wan-Ling; Lau, Yuk-Fai] Duke NUS Med Sch, Program Emerging Infect Dis, 8 Coll Rd, Singapore 169857, Singapore. RP Lau, YF (reprint author), DSO Natl Labs, Host Pathogen Interact Lab, 27 Med Dr, Singapore 117510, Singapore. EM lyukfai@dso.org.sg FU DSO National Laboratories and Future Systems and Technology Directorate (FSTD), Ministry of Defence, Republic of Singapore; Division of Intramural Research, NIAID, NIH FX This work is supported by funds from DSO National Laboratories and Future Systems and Technology Directorate (FSTD), Ministry of Defence, Republic of Singapore and in part from the Division of Intramural Research, NIAID, NIH. The funders had no role in study design, data collection and interpretation of the data. NR 28 TC 0 Z9 0 U1 1 U2 1 PU MICROBIOLOGY SOC PI LONDON PA CHARLES DARWIN HOUSE, 12 ROGER ST, LONDON WC1N 2JU, ERKS, ENGLAND SN 0022-1317 EI 1465-2099 J9 J GEN VIROL JI J. Gen. Virol. PD FEB PY 2017 VL 98 IS 2 BP 155 EP 165 DI 10.1099/jgv.0.000683 PG 11 WC Biotechnology & Applied Microbiology; Virology SC Biotechnology & Applied Microbiology; Virology GA EN6LQ UT WOS:000396115900005 PM 27983474 ER PT J AU Dang, YH Nice, FJ Truong, HA AF Dang, Yen H. Nice, Frank J. Hoai-An Truong TI Academic-Community Partnership for Medical Missions: Lessons Learned and Practical Guidance for Global Health Service-Learning Experiences SO JOURNAL OF HEALTH CARE FOR THE POOR AND UNDERSERVED LA English DT Article AB To facilitate an academic-community partnership for sustainable medical missions, a 12-step process was created for an interprofessional, global health educational, and service-learning experience for students and faculty in a school of pharmacy and health professions. Lessons learned and practical guidance are provided to implement similar global health opportunities. C1 [Dang, Yen H.; Hoai-An Truong] Univ Maryland Eastern Shore, Sch Pharm & Hlth Profess, One Coll Backbone Rd,210 Somerset Hall, Princess Anne, MD 21853 USA. [Nice, Frank J.] US FDA, Derwood, MD USA. [Nice, Frank J.] NIH, Derwood, MD USA. [Nice, Frank J.] Nice Breastfeeding LLC, Derwood, MD USA. RP Dang, YH (reprint author), Univ Maryland Eastern Shore, Sch Pharm & Hlth Profess, One Coll Backbone Rd,210 Somerset Hall, Princess Anne, MD 21853 USA. EM ydang@umes.edu NR 7 TC 0 Z9 0 U1 1 U2 1 PU JOHNS HOPKINS UNIV PRESS PI BALTIMORE PA JOURNALS PUBLISHING DIVISION, 2715 NORTH CHARLES ST, BALTIMORE, MD 21218-4363 USA SN 1049-2089 EI 1548-6869 J9 J HEALTH CARE POOR U JI J. Health Care Poor Underserved PD FEB PY 2017 VL 28 IS 1 BP 8 EP 13 PG 6 WC Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA EL6JU UT WOS:000394729200003 PM 28238981 ER PT J AU Best, AL Strane, A Christie, O Bynum, S Wiltshire, J AF Best, Alicia L. Strane, Alcha Christie, Omari Bynum, Shalanda Wiltshire, Jaqueline TI Examining the Influence of Cost Concern and Awareness of Low-cost Health Care on Cancer Screening among the Medically Underserved SO JOURNAL OF HEALTH CARE FOR THE POOR AND UNDERSERVED LA English DT Article DE Cancer screening; medically underserved; cost concern; awareness; federally qualified health center ID SERVICES; CENTERS; ACCESS AB African Americans suffer a greater burden of mortality from breast, cervical, and colorectal cancers than other groups in the United States. Early detection through timely screening can improve survival outcomes; however, cost is frequently reported as a barrier to screening. Federally qualified health centers (FQHCs) provide preventive and primary care to underserved populations regardless of ability to pay, positioning them to improve cancer screening rates. The purpose of this study was to examine the influence of concern about health care cost (cost concern) and awareness of low-cost health care (awareness) on cancer screening among 236 African Americans within an FQHC service area using self -report surveys. Multiple logistic regression indicated that awareness was positively associated with cervical and colorectal cancer screening, while cost concern was negatively associated with mammography screening. Results indicate that improving awareness and understanding of low-cost health care could increase cancer screening among underserved African Americans. C1 [Best, Alicia L.] Univ S Florida, Coll Publ Hlth, Dept Community & Family Hlth, Tampa, FL 33620 USA. [Strane, Alcha; Christie, Omari] Morehouse Sch Med, Atlanta, GA 30310 USA. [Bynum, Shalanda] NIH, Ctr Sci Review, Bldg 10, Bethesda, MD 20892 USA. [Wiltshire, Jaqueline] Univ S Florida, Dept Hlth Policy & Management, Tampa, FL USA. RP Best, AL (reprint author), Univ S Florida, Coll Publ Hlth, Dept Community & Family Hlth, Tampa, FL 33620 USA. NR 22 TC 0 Z9 0 U1 0 U2 0 PU JOHNS HOPKINS UNIV PRESS PI BALTIMORE PA JOURNALS PUBLISHING DIVISION, 2715 NORTH CHARLES ST, BALTIMORE, MD 21218-4363 USA SN 1049-2089 EI 1548-6869 J9 J HEALTH CARE POOR U JI J. Health Care Poor Underserved PD FEB PY 2017 VL 28 IS 1 BP 79 EP 87 PG 9 WC Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA EL6JU UT WOS:000394729200011 PM 28238989 ER PT J AU Wheldon, CW Kolar, SK Hernandez, ND Daley, EM AF Wheldon, Christopher W. Kolar, Stephanie K. Hernandez, Natalie D. Daley, Ellen M. TI Factorial Invariance and Convergent Validity of the Group-Based Medical Mistrust Scale across Gender and Ethnoracial Identity SO JOURNAL OF HEALTH CARE FOR THE POOR AND UNDERSERVED LA English DT Article DE Medical mistrust; psychometrics; minorities; measurement ID HEALTH-CARE; PERCEIVED DISADVANTAGES; AFRICAN-AMERICAN; FIT INDEXES; SATISFACTION; TRUST AB The objective of this study was to assess the factorial invariance and convergent validity of the Group-Based Medical Mistrust Scale (GBMMS) across gender (male and female) and ethnoracial identity (Latino and Black). Minority students (N = 686) attending a southeastern university were surveyed in the fall of 2011. Psychometric analysis of the GBMMS was performed. A three-factor solution fit the data after the omission of two problematic items. This revised version of the GBMMS exhibited sufficient configural, metric, and scalar invariance. Convergence of the GBMMS with conceptually related measures provided further evidence of validity; however, there was variation across ethnoracial identity. The GBMMS has viable psychometric properties across gender and ethnoracial identity in Black and Latino populations. C1 [Wheldon, Christopher W.] NCI, Div Canc Control & Populat Sci, Room 3E-212,9609 Med Ctr Dr, Bethesda, MD 20892 USA. [Kolar, Stephanie K.] US Dept Vet Affairs, Washington, DC USA. [Hernandez, Natalie D.] Univ S Florida, Dept Community Hlth & Prevent Med, Tampa, FL USA. [Daley, Ellen M.] Univ S Florida, Dept Community & Family Hlth, Tampa, FL USA. RP Wheldon, CW (reprint author), NCI, Div Canc Control & Populat Sci, Room 3E-212,9609 Med Ctr Dr, Bethesda, MD 20892 USA. EM christopher.wheldon@nih.gov NR 19 TC 0 Z9 0 U1 0 U2 0 PU JOHNS HOPKINS UNIV PRESS PI BALTIMORE PA JOURNALS PUBLISHING DIVISION, 2715 NORTH CHARLES ST, BALTIMORE, MD 21218-4363 USA SN 1049-2089 EI 1548-6869 J9 J HEALTH CARE POOR U JI J. Health Care Poor Underserved PD FEB PY 2017 VL 28 IS 1 BP 88 EP 99 PG 12 WC Health Policy & Services; Public, Environmental & Occupational Health SC Health Care Sciences & Services; Public, Environmental & Occupational Health GA EL6JU UT WOS:000394729200012 PM 28238990 ER PT J AU Berko, ER Cho, MT Eng, C Shao, YR Sweetser, DA Waxler, J Robin, NH Brewer, F Donkervoort, S Mohassel, P Bonnemann, CG Bialer, M Moore, C Wolfe, LA Tifft, CJ Shen, YF Retterer, K Millan, F Chung, WK AF Berko, Esther R. Cho, Megan T. Eng, Christine Shao, Yunru Sweetser, David A. Waxler, Jessica Robin, Nathaniel H. Brewer, Fallon Donkervoort, Sandra Mohassel, Payam Bonnemann, Carsten G. Bialer, Martin Moore, Christine Wolfe, Lynne A. Tifft, Cynthia J. Shen, Yufeng Retterer, Kyle Millan, Francisca Chung, Wendy K. TI De novo missense variants in HECW2 are associated with neurodevelopmental delay and hypotonia SO JOURNAL OF MEDICAL GENETICS LA English DT Article DE intellectual disability; whole exome sequencing; de novo; HECW2; neurodevelopmental delay ID SEVERE INTELLECTUAL DISABILITY; UBIQUITIN LIGASE; MUTATIONS; P73; MAINTENANCE; DISORDERS; DEFECTS; NEURONS; SERVER; BRAIN AB Background The causes of intellectual disability (ID) are diverse and de novo mutations are increasingly recognised to account for a significant proportion of ID. Methods and results In this study, we performed whole exome sequencing on a large cohort of patients with ID or neurodevelopmental delay and identified four novel de novo predicted deleterious missense variants in HECW2 in six probands with ID/developmental delay and hypotonia. Other common features include seizures, strabismus, nystagmus, cortical visual impairment and dysmorphic facial features. HECW2 is an ubiquitin ligase that stabilises p73, a crucial mediator of neurodevelopment and neurogenesis. Conclusion This study implicates pathogenic genetic variants in HECW2 as potential causes of neurodevelopmental disorders in humans. C1 [Berko, Esther R.; Chung, Wendy K.] Columbia Univ, Med Ctr, Dept Pediat, New York, NY 10032 USA. [Cho, Megan T.; Retterer, Kyle; Millan, Francisca] GeneDx, Gaithersburg, MD USA. [Eng, Christine; Shao, Yunru] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA. [Shao, Yunru] Texas Childrens Hosp, Houston, TX 77030 USA. [Sweetser, David A.; Waxler, Jessica] Massachusetts Gen Hosp, Boston, MA 02114 USA. [Robin, Nathaniel H.; Brewer, Fallon] Univ Alabama Birmingham, Birmingham, AL USA. [Donkervoort, Sandra; Mohassel, Payam; Bonnemann, Carsten G.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Bialer, Martin; Moore, Christine] Cohen Childrens Med Ctr NY, New Hyde Pk, NY USA. [Wolfe, Lynne A.; Tifft, Cynthia J.] NIH, Off Clin Director, Bldg 10, Bethesda, MD 20892 USA. [Wolfe, Lynne A.; Tifft, Cynthia J.] NIH, Undiagnosed Dis Program, Bldg 10, Bethesda, MD 20892 USA. [Shen, Yufeng] Columbia Univ, Med Ctr, Dept Syst Biol, New York, NY 10032 USA. [Shen, Yufeng] Columbia Univ, Med Ctr, Dept Biomed Informat, New York, NY 10032 USA. [Chung, Wendy K.] Columbia Univ, Med Ctr, Dept Med, New York, NY 10032 USA. RP Chung, WK (reprint author), Columbia Univ, Med Ctr, New York, NY 10032 USA. EM wkc15@columbia.edu FU Simons Foundation FX This work was supported in part by a grant from the Simons Foundation. NR 35 TC 0 Z9 0 U1 0 U2 0 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 0022-2593 EI 1468-6244 J9 J MED GENET JI J. Med. Genet. PD FEB PY 2017 VL 54 IS 2 BP 93 EP 99 DI 10.1136/jmedgenet-2016-103943 PG 7 WC Genetics & Heredity SC Genetics & Heredity GA EM7WS UT WOS:000395523600002 PM 27389779 ER PT J AU Soleimani-Meigooni, D Schwetye, K Angeles, M Ryschkewitsch, C Major, E Dang, X Koralnik, I Schmidt, R Clifford, D Kuhlmann, F Bucelli, R AF Soleimani-Meigooni, David N. Schwetye, Katherine E. Angeles, Maria Reyes Ryschkewitsch, Caroline F. Major, Eugene O. Dang, Xin Koralnik, Igor J. Schmidt, Robert E. Clifford, David B. Kuhlmann, F. Matthew Bucelli, Robert C. TI JC virus granule cell neuronopathy in the setting of chronic lymphopenia treated with recombinant interleukin-7 SO JOURNAL OF NEUROVIROLOGY LA English DT Article DE JC virus; Granule cell neuronopathy; Cerebellar ataxia; Lymphopenia; Il-7 ID PROGRESSIVE MULTIFOCAL LEUKOENCEPHALOPATHY; NATALIZUMAB; IDENTIFICATION; RITUXIMAB; GENOTYPES; PATIENT; GENE; GCN AB JC virus (JCV) is a human polyomavirus that infects the central nervous system (CNS) of immunocompromised patients. JCV granule cell neuronopathy (JCV-GCN) is caused by infection of cerebellar granule cells, causing ataxia. A 77-year-old man with iatrogenic lymphopenia presented with severe ataxia and was diagnosed with JCV-GCN. His ataxia and cerebrospinal fluid (CSF) improved with intravenous immunoglobulin, high-dose intravenous methylprednisolone, mirtazapine, and mefloquine. Interleukin-7 (IL-7) therapy reconstituted his lymphocytes and reduced his CSF JCV load. One month after IL-7 therapy, he developed worsening ataxia and CSF inflammation, which raised suspicion for immune reconstitution inflammatory syndrome. Steroids were restarted and his ataxia stabilized. C1 [Soleimani-Meigooni, David N.; Clifford, David B.; Bucelli, Robert C.] Washington Univ Sch Med, Dept Neurol, Campus Box 8111 660 S Euclid Ave, St Louis, MO 63110 USA. [Schwetye, Katherine E.; Schmidt, Robert E.] Washington Univ, Dept Pathol & Immunol, St Louis, MO USA. [Angeles, Maria Reyes; Kuhlmann, F. Matthew] Washington Univ, Dept Infect Dis, St Louis, MO USA. [Ryschkewitsch, Caroline F.; Major, Eugene O.] Natl Inst Neurol Disorders & Stroke, Lab Mol Med & Neurosci, Bethesda, MD USA. [Dang, Xin; Koralnik, Igor J.] Beth Israel Deaconess Med Ctr, Dept Neurol, Div Neuro Immunol, Boston, MA USA. [Dang, Xin; Koralnik, Igor J.] Beth Israel Deaconess Med Ctr, Ctr Virol & Vaccine Res, Boston, MA USA. RP Bucelli, R (reprint author), Washington Univ Sch Med, Dept Neurol, Campus Box 8111 660 S Euclid Ave, St Louis, MO 63110 USA. EM bucellir@neuro.wustl.edu FU NIH [R01 NS047029, R01 NS074995] FX Dr. Koralnik was funded in part by NIH grants R01 NS047029 and R01 NS074995. NR 20 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI NEW YORK PA 233 SPRING ST, NEW YORK, NY 10013 USA SN 1355-0284 EI 1538-2443 J9 J NEUROVIROL JI J. Neurovirol. PD FEB PY 2017 VL 23 IS 1 BP 141 EP 146 DI 10.1007/s13365-016-0465-0 PG 6 WC Neurosciences; Virology SC Neurosciences & Neurology; Virology GA EM0MB UT WOS:000395011300013 PM 27421731 ER PT J AU Putnick, DL Bornstein, MH Eryigit-Madzwamuse, S Wolke, D AF Putnick, Diane L. Bornstein, Marc H. Eryigit-Madzwamuse, Suna Wolke, Dieter TI Long-Term Stability of Language Performance in Very Preterm, Moderate-Late Preterm, and Term Children SO JOURNAL OF PEDIATRICS LA English DT Article ID MEASUREMENT INVARIANCE; BIRTH-WEIGHT; FIT INDEXES; DEVELOPMENTAL OUTCOMES; INFANTS; BORN; COVARIANCE; CHILDHOOD; COUNTRIES; TIME AB Objective To investigate whether children born very preterm, moderate-late preterm, and term differ in their average level and individual-difference stability in language performance over time. Study design Language was assessed at 5 and 20 months and 4, 6, and 8 years of age in 204 very preterm (< 32 weeks' gestation), 276 moderate-late preterm (32-36 weeks' gestation), and 268 term (37-41 weeks' gestation) children from the Bavarian Longitudinal Study. Results Very preterm children consistently performed worse than term-born children, and moderate-late preterm children scored in between. Language performance was stable from 5 months through 8 years in all gestation groups combined, and stability increased between each succeeding wave. Stability was stronger between 5 months and 4 years in very preterm than moderate-late preterm and term groups, but this differential stability attenuated when covariates (child nonverbal intelligence and family socioeconomic status) were controlled. Conclusions Preterm children, even moderate-late preterm, are at risk for poorer language performance than term-born children. Because individual differences in language performance are increasingly stable from 20 months to 8 years in all gestation groups, pediatricians who attend to preterm children and observe language delays should refer them to language intervention at the earliest age seen. C1 [Putnick, Diane L.; Bornstein, Marc H.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, 6705 Rockledge Dr,Suite 8030, Bethesda, MD 20892 USA. [Eryigit-Madzwamuse, Suna] Univ Brighton, Ctr Hlth Res, Brighton, E Sussex, England. [Wolke, Dieter] Univ Warwick, Warwick Med Sch, Dept Psychol, Coventry, W Midlands, England. [Wolke, Dieter] Univ Warwick, Warwick Med Sch, Div Mental Hlth & Wellbeing, Coventry, W Midlands, England. RP Putnick, DL (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, 6705 Rockledge Dr,Suite 8030, Bethesda, MD 20892 USA. EM putnickd@mail.nih.gov OI Putnick, Diane/0000-0002-6323-749X; Wolke, Dieter/0000-0003-0304-268X FU National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development FX D.P. and M.B. were supported by the intramural program of the National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development. Data acquisition was supported by the German Federal Ministry of Education and Science (PKE24, JUG14, 01EP9504, and 01ER0801 [to D.W. and S.E.-M.]). The authors declare no conflicts of interest. NR 59 TC 1 Z9 1 U1 0 U2 0 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0022-3476 EI 1097-6833 J9 J PEDIATR-US JI J. Pediatr. PD FEB PY 2017 VL 181 BP 74 EP + DI 10.1016/j.jpeds.2016.09.006 PG 9 WC Pediatrics SC Pediatrics GA EN8KL UT WOS:000396249200013 PM 27745750 ER PT J AU Shepherd, JA Sommer, MJ Powers, C Stranix-Chibanda, L Zadzilka, A Basar, M George, K Mukwasi-Kahari, C Siberry, G AF Shepherd, John A. Sommer, Markus J. Powers, Cassidy Stranix-Chibanda, Lynda Zadzilka, Amanda Basar, Michael George, Kathy Mukwasi-Kahari, Cynthia Siberry, George TI Advanced Analysis Techniques Improve Infant Bone and Body Composition Measures by Dual- Energy X- Ray Absorptiometry SO JOURNAL OF PEDIATRICS LA English DT Article ID POSITION DEVELOPMENT CONFERENCE; OFFICIAL POSITIONS; CLINICAL-DENSITOMETRY; INTERNATIONAL-SOCIETY; CHILDREN; PRECISION; ACQUISITION; DENSITY; DXA; AGE AB Objective To evaluate a novel technique designed to reduce the negative impact of motion artifacts in infant dual-energy X-ray absorptiometry (DXA) scans. Study design Using cross-sectional data from a large multicenter study, we developed and tested advanced methods for infant scan analysis. Newborns (n = 750) received spine and whole-body DXA scans with up to 3 attempts to acquire a motion free scan. Precision of infant DXA was estimated from visits with multiple valid scans. Accuracy of regional reflection, fusion, and omission techniques was estimated by comparing modified scans to unmodified valid scans. The effectiveness of the acquisition and analysis protocol was represented by the reduction in rate of failure to acquire valid results from infant visits. Results For infant whole-body DXA, arm reflection and all fusion techniques caused no significant changes to bone mineral content, bone mineral density, bone area, total mass, fat mass, lean mass, and percentage fat. Leg reflection and arm/leg dual-reflection caused significant changes to total mass, but the percentage change remained small. For infant spine DXA, fusion and omission caused no significant changes. Advanced analysis techniques reduced the failure rate of whole-body scanning from 20.8% to 9.3% and the failure rate of spine scanning from 8.9% to 2.4%. Conclusions Advanced analysis techniques significantly reduced the impact of motion artifacts on infant DXAscans. We suggest this protocol be used in future infant DXA research and clinical practice. C1 [Shepherd, John A.; Sommer, Markus J.; Powers, Cassidy; Stranix-Chibanda, Lynda] Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA. [Stranix-Chibanda, Lynda; Mukwasi-Kahari, Cynthia] Univ Zimbabwe, Coll Hlth Sci, Harare, Zimbabwe. [Zadzilka, Amanda; Basar, Michael; George, Kathy] Frontier Sci & Technol Res Fdn Inc, Amherst, NY USA. [Siberry, George] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Maternal & Pediat Infect Dis Branch, NIH, Bethesda, MD USA. RP Shepherd, JA (reprint author), Univ Calif San Francisco, Dept Radiol & Biomed Imaging, San Francisco, CA 94143 USA. EM John.Shepherd@ucsf.edu FU NIAID NIH HHS [UM1 AI068632, UM1 AI068616, UM1 AI106716] NR 26 TC 0 Z9 0 U1 1 U2 1 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0022-3476 EI 1097-6833 J9 J PEDIATR-US JI J. Pediatr. PD FEB PY 2017 VL 181 BP 248 EP + DI 10.1016/j.jpeds.2016.10.040 PG 9 WC Pediatrics SC Pediatrics GA EN8KL UT WOS:000396249200039 PM 27866821 ER PT J AU Raju, TNK Pemberton, VL Saigal, S Blaisdell, CJ Moxey-Mims, M Buist, S AF Raju, Tonse N. K. Pemberton, Victoria L. Saigal, Saroj Blaisdell, Carol J. Moxey-Mims, Marva Buist, Sonia CA Adults Born Preterm Conf Speakers TI Long-Term Healthcare Outcomes of Preterm Birth: An Executive Summary of a Conference Sponsored by the National Institutes of Health SO JOURNAL OF PEDIATRICS LA English DT Editorial Material ID YOUNG-ADULTS BORN; ISCHEMIC-HEART-DISEASE; SCHOOL-AGED CHILDREN; CARDIOVASCULAR RISK-FACTORS; PITUITARY-ADRENAL AXIS; SLEEP-APNEA SYNDROME; CHRONIC LUNG-DISEASE; ACUTE KIDNEY INJURY; WEIGHT INFANTS; BRONCHOPULMONARY DYSPLASIA C1 [Raju, Tonse N. K.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, 6710B Rockledge Dr,Room 2330,MSC 7002, Bethesda, MD 20892 USA. [Pemberton, Victoria L.; Blaisdell, Carol J.] McMaster Univ, Hamilton, ON, Canada. [Saigal, Saroj] NHLBI, Bldg 10, Bethesda, MD 20892 USA. [Moxey-Mims, Marva] NIDDK, Bethesda, MD 20892 USA. [Buist, Sonia] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. RP Raju, TNK (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, 6710B Rockledge Dr,Room 2330,MSC 7002, Bethesda, MD 20892 USA. EM rajut@mail.nih.gov FU National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute; National Institute of Diabetes and Digestive and Kidney Diseases FX The conference, "Adults Born Preterm: Epidemiology and Biological Basis for Adult Outcomes" was presented on August 13-14, 2015, Rockville, Bethesda, MD, and was funded by the National Institutes of Health, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Heart, Lung, and Blood Institute, and the National Institute of Diabetes and Digestive and Kidney Diseases. NR 146 TC 0 Z9 0 U1 0 U2 0 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0022-3476 EI 1097-6833 J9 J PEDIATR-US JI J. Pediatr. PD FEB PY 2017 VL 181 BP 309 EP + DI 10.1016/j.jpeds.2016.10.015 PG 11 WC Pediatrics SC Pediatrics GA EN8KL UT WOS:000396249200051 PM 27806833 ER PT J AU Hussain, SJ Cohen, LG AF Hussain, Sara J. Cohen, Leonardo G. TI Exploratory studies: a crucial step towards better hypothesis-driven confirmatory research in brain stimulation SO JOURNAL OF PHYSIOLOGY-LONDON LA English DT Editorial Material DE brain stimulation; exploratory; tDCS C1 [Hussain, Sara J.; Cohen, Leonardo G.] NINDS, Human Cort Physiol & Neurorehabil Sect, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. RP Cohen, LG (reprint author), NINDS, Human Cort Physiol & Neurorehabil Sect, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. EM cohenl@ninds.nih.gov NR 5 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3751 EI 1469-7793 J9 J PHYSIOL-LONDON JI J. Physiol.-London PD FEB PY 2017 VL 595 IS 4 BP 1013 EP 1014 DI 10.1113/JP273582 PG 2 WC Neurosciences; Physiology SC Neurosciences & Neurology; Physiology GA EL4HD UT WOS:000394581400006 PM 28095638 ER PT J AU Shi, J Miralles, F Birnbaumer, L Large, WA Albert, AP AF Shi, Jian Miralles, Francesc Birnbaumer, Lutz Large, William A. Albert, Anthony P. TI Store-operated interactions between plasmalemmal STIM1 and TRPC1 proteins stimulate PLC1 to induce TRPC1 channel activation in vascular smooth muscle cells SO JOURNAL OF PHYSIOLOGY-LONDON LA English DT Article DE PLC; STIM1; TRPC; vascular smooth muscle ID CALCIUM-CHANNELS; CA2+ CHANNELS; PHOSPHATIDYLINOSITOL 4,5-BISPHOSPHATE; KINASE-C; MEMBRANE; ENTRY; MYOCYTES; ORAI; CRAC; PHYSIOLOGY AB In vascular smooth muscle cells (VSMCs), stimulation of canonical transient receptor potential channel 1 (TRPC1) protein-based store-operated channels (SOCs) mediates Ca2+ entry pathways that regulate contractility, proliferation and migration. It is therefore important to understand how these channels are activated. Studies have shown that stimulation of TRPC1-based SOCs requires G protein q subunit (Gq)/phospholipase C (PLC)1 activities and protein kinase C (PKC) phosphorylation, although it is unclear how store depletion stimulates this gating pathway. The present study examines this issue by focusing on the role of stromal interaction molecule 1 (STIM1), an endo/sarcoplasmic reticulum Ca2+ sensor. Store-operated TRPC1 channel activity was inhibited by TRPC1 and STIM1 antibodies and STIM1 short hairpin RNA (shRNA) in wild-type VSMCs, and was absent in TRPC1(-/-) VSMCs. Store-operated PKC phosphorylation of TRPC1 was reduced by knockdown of STIM1. Moreover, store-operated PLC1 activity measured with the fluorescent phosphatidylinositol 4,5-bisphosphate/inositol 1,4,5-trisphosphate biosensor GFP-PLC1-PH was reduced by STIM1 shRNA and absent in TRPC1(-/-) cells. Immunocytochemistry, co-immunoprecipitation and proximity ligation assays revealed that store depletion activated STIM1 translocation from within the cell to the plasma membrane (PM) where it formed STIM1-TRPC1 complexes, which then associated with Gq and PLC1. Noradrenaline also evoked TRPC1 channel activity and associations between TRPC1, STIM1, Gq and PLC1, which were inhibited by STIM1 knockdown. Effects of N-terminal and C-terminal STIM1 antibodies on TRPC1-based SOCs and STIM1 staining suggest that channel activation may involve insertion of STIM1 into the PM. The findings of the present study identify a new activation mechanism of TRPC1-based SOCs in VSMCs, and a novel role for STIM1, in which store-operated STIM1-TRPC1 interactions stimulate PLC1 activity to induce PKC phosphorylation of TRPC1 and channel gating. C1 [Shi, Jian; Miralles, Francesc; Large, William A.; Albert, Anthony P.] St Georges Univ London, Mol & Clin Sci Res Inst, Vasc Biol Res Ctr, Cranmer Terrace, London SW17 0RE, England. [Miralles, Francesc] St Georges Univ London, Inst Med & Biomed Educ, London, England. [Birnbaumer, Lutz] NIEHS, Neurobiol Lab, POB 12233, Res Triangle Pk, NC 27709 USA. [Birnbaumer, Lutz] Catholic Univ Argentina, Sch Med Sci, Inst Biomed Res BIOMED, Buenos Aires, DF, Argentina. RP Albert, AP (reprint author), St Georges Univ London, Mol & Clin Sci Res Inst, Vasc Biol Res Ctr, Cranmer Terrace, London SW17 0RE, England. EM aalbert@sgul.ac.uk FU Biotechnology and Biological Sciences Research Council [BB/J007226/1, BB/M018350/1]; NIH [Z01-ES-101684] FX This work was supported by the Biotechnology and Biological Sciences Research Council (BB/J007226/1 and BB/M018350/1 to APA) and was also supported in part by the NIH Intramural Research Program (Project Z01-ES-101684 to LB). NR 48 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3751 EI 1469-7793 J9 J PHYSIOL-LONDON JI J. Physiol.-London PD FEB PY 2017 VL 595 IS 4 BP 1039 EP 1058 DI 10.1113/JP273302 PG 20 WC Neurosciences; Physiology SC Neurosciences & Neurology; Physiology GA EL4HD UT WOS:000394581400014 PM 27753095 ER PT J AU Jovanovic, S Radulovic, T Coddou, C Dietz, B Nerlich, J Stojilkovic, SS Rubsamen, R Milenkovic, I AF Jovanovic, Sasa Radulovic, Tamara Coddou, Claudio Dietz, Beatrice Nerlich, Jana Stojilkovic, Stanko S. Ruebsamen, Rudolf Milenkovic, Ivan TI Tonotopic action potential tuning of maturing auditory neurons through endogenous ATP SO JOURNAL OF PHYSIOLOGY-LONDON LA English DT Article DE AP modulation; P2X2; X3 receptor; auditory brainstem; calyceal synapses; development; ATP release ID VENTRAL COCHLEAR NUCLEUS; SPHERICAL BUSHY CELLS; INNER HAIR-CELLS; EXPERIENCE-DEPENDENT REFINEMENT; LATERAL SUPERIOR OLIVE; LONG-TERM POTENTIATION; HEBBIAN LEARNING RULE; P2X RECEPTORS; BRAIN-STEM; SYNAPTIC PLASTICITY AB Synaptic refinement and strengthening are activity-dependent processes that establish orderly arranged cochleotopic maps throughout the central auditory system. The maturation of auditory brainstem circuits is guided by action potentials (APs) arising from the inner hair cells in the developing cochlea. The AP firing of developing central auditory neurons can be modulated by paracrine ATP signalling, as shown for the cochlear nucleus bushy cells and principal neurons in the medial nucleus of the trapezoid body. However, it is not clear whether neuronal activity may be specifically regulated with respect to the nuclear tonotopic position (i.e. sound frequency selectivity). Using slice recordings before hearing onset and in vivo recordings with iontophoretic drug applications after hearing onset, we show that cell-specific purinergic modulation follows a precise tonotopic pattern in the ventral cochlear nucleus of developing gerbils. In high-frequency regions, ATP responsiveness diminished before hearing onset. In low-to-mid frequency regions, ATP modulation persisted after hearing onset in a subset of low-frequency bushy cells (characteristic frequency<10kHz). Down-regulation of P2X2/3R currents along the tonotopic axis occurs simultaneously with an increase in AMPA receptor currents, thus suggesting a high-to-low frequency maturation pattern. Facilitated AP generation, measured as higher firing frequency, shorter EPSP-AP delay in vivo, and shorter AP latency in slice experiments, is consistent with increased synaptic efficacy caused by ATP. Finally, by combining recordings and pharmacology in vivo, in slices, and in human embryonic kidney 293 cells, it was shown that the long lasting change in intrinsic neuronal excitability is mediated by the P2X2/3R. C1 [Jovanovic, Sasa; Radulovic, Tamara; Dietz, Beatrice; Nerlich, Jana; Ruebsamen, Rudolf; Milenkovic, Ivan] Univ Leipzig, Inst Biol, Fac Biosci Pharm & Psychol, Leipzig, Germany. [Coddou, Claudio; Stojilkovic, Stanko S.] NICHHD, Sect Cellular Signaling, Program Dev Neurosci, NIH, Bethesda, MD 20892 USA. [Radulovic, Tamara; Nerlich, Jana; Milenkovic, Ivan] Univ Leipzig, Carl Ludwig Inst Physiol, Fac Med, Liebigstr 27, D-04103 Leipzig, Germany. RP Milenkovic, I (reprint author), Univ Leipzig, Inst Biol, Fac Biosci Pharm & Psychol, Leipzig, Germany.; Milenkovic, I (reprint author), Univ Leipzig, Carl Ludwig Inst Physiol, Fac Med, Liebigstr 27, D-04103 Leipzig, Germany. EM ivan.milenkovic@medizin.uni-leipzig.de FU DFG [MI 954/3-1, MI 954/2-1, RU 390/19-1, GRK 1097]; National Institute of Child Health and Human Development; DAAD FX This work was supported by the DFG grants MI 954/3-1, MI 954/2-1 (IM), RU 390/19-1 (RR and JN), GRK 1097 (BD), the Intramural Research Program of the National Institute of Child Health and Human Development (CC and SSS) and a DAAD scholarship to SJ. NR 123 TC 1 Z9 1 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0022-3751 EI 1469-7793 J9 J PHYSIOL-LONDON JI J. Physiol.-London PD FEB PY 2017 VL 595 IS 4 BP 1315 EP 1337 DI 10.1113/JP273272 PG 23 WC Neurosciences; Physiology SC Neurosciences & Neurology; Physiology GA EL4HD UT WOS:000394581400033 PM 28030754 ER PT J AU Li, YA Yang, YL Li, QB Yang, XQ Wang, Y Ku, WL Li, HC AF Li, Yuan Yang, Yiling Li, Qiubing Yang, Xueqing Wang, Yan Ku, Wai Lim Li, Haicong TI The impact of the improvement of insomnia on blood pressure in hypertensive patients SO JOURNAL OF SLEEP RESEARCH LA English DT Article DE insomnia; blood pressure; anxiety; depression; double-blinded; placebo-controlled ID SHORT-SLEEP DURATION; ESTAZOLAM; DEPRESSION; SYMPTOMS; QUALITY; ANXIETY; MANAGEMENT; EFFICACY; COHORT; STATES AB This study investigated the impact of the improvement of insomnia on the blood pressure levels of hypertensive patients. Atotal of 402 patients with a diagnosis of insomnia and hypertension were selected and randomly divided into two groups. The treatment group (202 cases) received standard anti-hypertensive treatment with Estazolam, and the control group (200 cases) received standard anti-hypertensive treatment with placebo. The sedentary diastolic and systolic blood pressures were measured before the treatment and every 7 days during the experiment. To assess the sleep quality and anxiety and depression levels of patients, the scores of the Pittsburgh Sleep Quality Index, the Hamilton Anxiety Rating Scale and the Hamilton Depression Scale-17 were reported at the same time points. At the conclusion of the experiment, the Pittsburgh Sleep Quality Index, Hamilton Anxiety Rating Scale and Hamilton Depression Scale-17 scores of the treatment group were significantly lower than those of the control group (P < 0.001). The insomnia treatment efficacy of Estazolam in the treatment group was 67.3%, significantly higher than that (14.0%) of the control (P < 0.001). The blood pressure of the treatment group showed significant improvement throughout the experiment. By Day 28, the decrease of sedentary diastolic and systolic blood pressures in the treatment group was significantly greater than that of the control (sedentary systolic blood pressure: 10.5 +/- 3.9 versus 3.4 +/- 2.5 mmHg; sedentary diastolic blood pressure: 8.1 +/- 3.6 versus 2.7 +/- 2.1 mmHg, P < 0.001), and the compliance rate of goal blood pressure (< 140/ 90 mmHg) was 74.8% with Estazolam, compared with 50.5% with placebo (P < 0.001). Thus, the current findings indicated that the improvement of insomnia can significantly help lower blood pressure in hypertensive patients. C1 [Li, Yuan] Univ Maryland, Dept Cell Biol & Mol Genet, College Pk, MD 20742 USA. [Yang, Yiling] Beijing Univ Chinese Med, Sch Preclin Med, Dept Diagnost TCM, Beijing, Peoples R China. [Li, Qiubing; Yang, Xueqing; Wang, Yan; Li, Haicong] China Japan Friendship Hosp, Dept Geriatr, 2 Ying Hua East St, Beijing 100029, Peoples R China. [Ku, Wai Lim] NHLBI, Syst Biol Ctr, Div Intramural Res, NIH, Bldg 10, Bethesda, MD 20892 USA. RP Li, HC (reprint author), China Japan Friendship Hosp, Dept Geriatr, 2 Ying Hua East St, Beijing 100029, Peoples R China. EM lihaicong@outlook.com FU China-Japan Friendship Hospital [2010-MS-37] FX The authors thank Dera Tompkins, NIH Library Writing Center, for manuscript editing assistance. This research is funded by grant 2010-MS-37 from China-Japan Friendship Hospital. NR 47 TC 1 Z9 1 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0962-1105 EI 1365-2869 J9 J SLEEP RES JI J. Sleep Res. PD FEB PY 2017 VL 26 IS 1 BP 105 EP 114 DI 10.1111/jsr.12411 PG 10 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EO9PE UT WOS:000397019800013 PM 27095167 ER PT J AU Steele, JE Sundsoy, PR Pezzulo, C Alegana, VA Bird, TJ Blumenstock, J Bjelland, J Engo-Monsen, K de Montjoye, YA Iqbal, AM Hadiuzzaman, KN Lu, X Wetter, E Tatem, AJ Bengtsson, L AF Steele, Jessica E. Sundsoy, Pal Roe Pezzulo, Carla Alegana, Victor A. Bird, Tomas J. Blumenstock, Joshua Bjelland, Johannes Engo-Monsen, Kenth de Montjoye, Yves-Alexandre Iqbal, Asif M. Hadiuzzaman, Khandakar N. Lu, Xin Wetter, Erik Tatem, Andrew J. Bengtsson, Linus TI Mapping poverty using mobile phone and satellite data SO JOURNAL OF THE ROYAL SOCIETY INTERFACE LA English DT Article DE poverty mapping; mobile phone data; Bayesian geostatistical modelling; remote sensing ID APPROXIMATE BAYESIAN-INFERENCE; DYNAMICS; IMAGERY; MODELS; WEALTH; INDIA AB Poverty is one of the most important determinants of adverse health outcomes globally, a major cause of societal instability and one of the largest causes of lost human potential. Traditional approaches to measuring and targeting poverty rely heavily on census data, which in most low-and middle-income countries (LMICs) are unavailable or out-of-date. Alternate measures are needed to complement and update estimates between censuses. This study demonstrates how public and private data sources that are commonly available for LMICs can be used to provide novel insight into the spatial distribution of poverty. We evaluate the relative value of modelling three traditional poverty measures using aggregate data from mobile operators and widely available geospatial data. Taken together, models combining these data sources provide the best predictive power (highest r(2) = 0.78) and lowest error, but generally models employing mobile data only yield comparable results, offering the potential to measure poverty more frequently and at finer granularity. Stratifying models into urban and rural areas highlights the advantage of using mobile data in urban areas and different data indifferent contexts. The findings indicate the possibility to estimate and continually monitor poverty rates at high spatial resolution in countries with limited capacity to support traditional methods of data collection. C1 [Steele, Jessica E.; Pezzulo, Carla; Alegana, Victor A.; Bird, Tomas J.; Tatem, Andrew J.] Univ Southampton, Geog & Environm, Univ Rd,Bldg 44, Southampton, Hants, England. [Steele, Jessica E.; Lu, Xin; Wetter, Erik; Tatem, Andrew J.; Bengtsson, Linus] Flowminder Fdn, Roslagsgatan 17, Stockholm, Sweden. [Sundsoy, Pal Roe; Bjelland, Johannes; Engo-Monsen, Kenth] Telenor Grp Res, Oslo, Norway. [Blumenstock, Joshua] Univ Calif Berkeley, Sch Informat, Berkeley, CA 94720 USA. [de Montjoye, Yves-Alexandre] Imperial Coll London, Data Sci Inst, London, England. [Iqbal, Asif M.; Hadiuzzaman, Khandakar N.] Grameenphone Ltd, Dhaka, Bangladesh. [Lu, Xin; Bengtsson, Linus] Karolinska Inst, Publ Hlth Sci, Stockholm, Sweden. [Lu, Xin] Natl Univ Def Technol, Coll Informat Syst & Management, Changsha, Hunan, Peoples R China. [Wetter, Erik] Stockholm Sch Econ, Saltmatargatan 13-17, Stockholm, Sweden. [Tatem, Andrew J.] NIH, John E Fogarty Int Ctr, Bldg 10, Bethesda, MD 20892 USA. RP Steele, JE (reprint author), Univ Southampton, Geog & Environm, Univ Rd,Bldg 44, Southampton, Hants, England.; Steele, JE (reprint author), Flowminder Fdn, Roslagsgatan 17, Stockholm, Sweden. EM steele.jessica@gmail.com OI Alegana, Victor/0000-0001-5177-9227 FU Bill & Melinda Gates Foundation [OPP1106936, OPP1106427, 1032350, OPP1134076, OPP1094793]; Natural Science Foundation of China [71301165, 71522014]; NIH/NIAID [U19AI089674]; Clinton Health Access Initiative, National Institutes of Health; Wellcome Trust Sustaining Health [106866/Z/15/Z]; Swedish Research Council [D0313701] FX J.E.S., E.W.and J.Bl.are supported by the Bill & Melinda Gates Foundation (OPP1106936).C.P.is supported by the Bill & Melinda Gates Foundation (OPP1106427).X.L.acknowledges theNatural Science Foundation of China under grant nos.71301165 and 71522014.A.J.T.is supported by funding from NIH/NIAID (U19AI089674), the Bill & Melinda Gates Foundation (OPP1106427, 1032350, OPP1134076 and OPP1094793), the Clinton Health Access Initiative, National Institutes of Health, and a Wellcome Trust Sustaining Health grant (106866/Z/ 15/Z).L.B.acknowledges the Swedish Research Council, grant no. D0313701.This work forms part of the WorldPop Project (www.world pop.org.uk) and Flowminder Foundation (www.flowminder.org). NR 66 TC 0 Z9 0 U1 1 U2 1 PU ROYAL SOC PI LONDON PA 6-9 CARLTON HOUSE TERRACE, LONDON SW1Y 5AG, ENGLAND SN 1742-5689 EI 1742-5662 J9 J R SOC INTERFACE JI J. R. Soc. Interface PD FEB 1 PY 2017 VL 14 IS 127 AR 20160690 DI 10.1098/rsif.2016.0690 PG 10 WC Multidisciplinary Sciences SC Science & Technology - Other Topics GA EN4ZT UT WOS:000396016100004 ER PT J AU Viessmann, O Li, LQ Benjamin, P Jezzard, P AF Viessmann, Olivia Li, Linqing Benjamin, Philip Jezzard, Peter TI T2-Weighted intracranial vessel wall imaging at 7 Tesla using a DANTE-prepared variable flip angle turbo spin echo readout (DANTE-SPACE) SO MAGNETIC RESONANCE IN MEDICINE LA English DT Article DE Vessel wall imaging; black-blood imaging; stroke; plaque imaging; variable flip angle; DANTE; SPACE ID IN-VIVO; MRI; ARTERIAL; BLOOD; PATHOLOGY; CONTRAST; TRAINS; FIELD AB PurposeTo optimize intracranial vessel wall imaging (VWI) at 7T for sharp wall depiction and high boundary contrast. MethodsA variable flip angle turbo spin echo scheme (SPACE) was optimized for VWI. SPACE provides black-blood contrast, but has less crushing effect on cerebrospinal fluid (CSF). However, a delay alternating with nutation for tailored excitation (DANTE) preparation suppresses the signal from slowly moving spins of a few mm per second. Therefore, we optimized a DANTE-preparation module for 7T. Signal-to-noise ratio (SNR), contrast-to-noise ratio (CNR), and signal ratio for vessel wall, CSF, and lumen were calculated for SPACE and DANTE-SPACE in 11 volunteers at the middle cerebral artery (MCA). An exemplar MCA stenosis patient was scanned with DANTE-SPACE. ResultsThe 7T-optimized SPACE sequence improved the vessel wall point-spread function by 17%. The CNR between the wall and CSF was doubled (12.2 versus 5.6) for the DANTE-SPACE scans compared with the unprepared SPACE. This increase was significant in the right hemisphere (P=0.016), but not in the left (P=0.090). The CNR between wall and lumen was halved, but remained at a high value (24.9 versus 56.5). ConclusionThe optimized SPACE sequence improves VWI at 7T. Additional DANTE preparation increases the contrast between the wall and CSF. Increased outer boundary contrast comes at the cost of reduced inner boundary contrast. Magn Reson Med 77:655-663, 2017. (c) 2016 The Authors Magnetic Resonance in Medicine published by Wiley Periodicals, Inc. on behalf of International Society for Magnetic Resonance in Medicine. This is an open access article under the terms of the Creative Commons Attribution License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. C1 [Viessmann, Olivia; Li, Linqing; Jezzard, Peter] John Radcliffe Hosp, FMRIB Ctr, Nuffield Dept Clin Neurosci, Oxford OX3 9DU, England. [Li, Linqing] NIMH, Mol Imaging Branch, NIH, Bethesda, MD 20892 USA. [Benjamin, Philip] Univ London, Neurosci Res Ctr, St Georges Hosp, London, England. RP Jezzard, P (reprint author), John Radcliffe Hosp, FMRIB Ctr, Oxford OX3 9DU, England. EM peter.jezzard@univ.ox.ac.uk FU European Commission [FP7-PEOPLE-2012-ITN-316716] FX Grant sponsor: European Commission; Grant number: FP7-PEOPLE-2012-ITN-316716. NR 34 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0740-3194 EI 1522-2594 J9 MAGN RESON MED JI Magn. Reson. Med. PD FEB PY 2017 VL 77 IS 2 BP 655 EP 663 DI 10.1002/mrm.26152 PG 9 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA EL3UL UT WOS:000394544700022 PM 26890988 ER PT J AU Ozenne, V Toupin, S Bour, P de Senneville, BD Lepetit-Coiffe, M Boissenin, M Benois-Pineau, J Hansen, MS Inati, SJ Govari, A Jais, P Quesson, B AF Ozenne, Valery Toupin, Solenn Bour, Pierre de Senneville, Baudouin Denis Lepetit-Coiffe, Matthieu Boissenin, Manuel Benois-Pineau, Jenny Hansen, Michael S. Inati, Souheil J. Govari, Assaf Jais, Pierre Quesson, Bruno TI Improved cardiac magnetic resonance thermometry and dosimetry for monitoring lesion formation during catheter ablation SO MAGNETIC RESONANCE IN MEDICINE LA English DT Article DE arrhythmia; cardiac; electrophysiology; MR thermometry; radiofrequency ablation ID MR-THERMOMETRY; RADIOFREQUENCY ABLATION; GUIDANCE; FEASIBILITY; ELECTROPHYSIOLOGY; THERAPY; DEVICES; HUMANS; TISSUE; ORGANS AB PurposeA new real-time MR-thermometry pipeline was developed to measure multiple temperature images per heartbeat with 1.6x1.6x3mm(3) spatial resolution. The method was evaluated on 10 healthy volunteers and during radiofrequency ablation (RFA) in sheep. MethodsMultislice, electrocardiogram-triggered, echo-planar imaging was combined with parallel imaging, under free breathing conditions. In-plane respiratory motion was corrected on magnitude images by an optical flow algorithm. Motion-related susceptibility artifacts were compensated on phase images by an algorithm based on Principal Component Analysis. Correction of phase drift and temporal filter were included in the pipeline implemented in the Gadgetron framework. Contact electrograms were recorded simultaneously with MR thermometry by an MR-compatible ablation catheter. ResultsThe temporal standard deviation of temperature in the left ventricle remained below 2 degrees C on each volunteer. In sheep, focal heated regions near the catheter tip were observed on temperature images (maximal temperature increase of 38 degrees C) during RFA, with contact electrograms of acceptable quality. Thermal lesion dimensions at gross pathology were in agreement with those observed on thermal dose images. ConclusionThis fully automated MR thermometry pipeline (five images/heartbeat) provides direct assessment of lesion formation in the heart during catheter-based RFA, which may improve treatment of cardiac arrhythmia by ablation. Magn Reson Med 77:673-683, 2017. (c) 2016 International Society for Magnetic Resonance in Medicine C1 [Ozenne, Valery; Toupin, Solenn; Bour, Pierre; Boissenin, Manuel; Jais, Pierre; Quesson, Bruno] Fondat Bordeaux Univ, Inst Hosp Univ, Liryc Inst Rythmol & Modelisat Cardiaque, Bordeaux, France. [Ozenne, Valery; Toupin, Solenn; Bour, Pierre; Boissenin, Manuel; Quesson, Bruno] Univ Bordeaux, INSERM, U1045, Ctr Rech Cardiothorac Bordeaux, Bordeaux, France. [Toupin, Solenn; Lepetit-Coiffe, Matthieu] Siemens Healthcare France, St Denis, France. [de Senneville, Baudouin Denis] Math Inst Bordeaux, Bordeaux, France. [Benois-Pineau, Jenny] Univ Bordeaux, CNRS, LaBRI, Bordeaux, France. [Hansen, Michael S.] NHLBI, Magnet Resonance Technol Program, NIH, Bldg 10, Bethesda, MD 20892 USA. [Inati, Souheil J.] NIMH, NIH, Bethesda, MD 20892 USA. [Govari, Assaf] Biosense Webster, Diamond Bar, CA USA. [Jais, Pierre] Ctr Hosp Univ Bordeaux, Bordeaux, France. RP Ozenne, V (reprint author), Hop Xavier Arnozan, Liryc Inst Rythmol & Modelisat Cardiaque, Inst Hosp Univ, PTIB, Ave Haut Leveque, F-33604 Pessac, France. EM Valery.Ozenne@ihu-liryc.fr FU French National Investments for the Future Programs [ANR-10-IAHU-04]; Laboratory of Excellence [ANR-10-LABX-57]; Equipex [ANR-11-EQPX-0030, ANR-13-PRTS-0014-01]; [ANR-11-Tec-San-003-01] FX This work received the financial support from the French National Investments for the Future Programs ANR-10-IAHU-04 (IHU Liryc) and Laboratory of Excellence ANR-10-LABX-57 (TRAIL), and the research programs ANR-11-Tec-San-003-01 (TACIT), Equipex ANR-11-EQPX-0030 (MUSIC) and ANR-13-PRTS-0014-01 (MIGAT). We gratefully thank Pippa McKelvie-Sebileau for the manuscript editing. NR 31 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0740-3194 EI 1522-2594 J9 MAGN RESON MED JI Magn. Reson. Med. PD FEB PY 2017 VL 77 IS 2 BP 673 EP 683 DI 10.1002/mrm.26158 PG 11 WC Radiology, Nuclear Medicine & Medical Imaging SC Radiology, Nuclear Medicine & Medical Imaging GA EL3UL UT WOS:000394544700024 PM 26899165 ER PT J AU Felisiak-Golabek, A Inaguma, S Kowalik, A Wasag, B Wang, ZF Lasota, J Miettinen, MM AF Felisiak-Golabek, Anna Inaguma, Shingo Kowalik, Artur Wasag, Bartosz Wang, Zeng-Feng Lasota, Jerzy Miettinen, Markku M. TI SP174 Antibody Lacks Specificity for NRAS Q61R and Cross-Reacts with HRAS- and KRAS-Q61R Mutant Proteins in Malignant Melanoma SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 NCI, Bethesda, MD 20892 USA. Aichi Med Univ, Sch Med, Nagakute, Aichi, Japan. Holycross Canc Ctr, Kielce, Swietokrzyskie, Poland. Med Univ Gdansk, Gdansk, Pomorskie, Poland. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 501 BP 128A EP 129A PG 2 WC Pathology SC Pathology GA EL2RO UT WOS:000394467300500 ER PT J AU Allgaeuez, M Ferre, EMN Heller, T Lionakis, M Quezado, MM AF Allgaeuez, Michael Ferre, Elise M. N. Heller, Theo Lionakis, Michail Quezado, Martha M. TI Autoimmune Polyendocrinopathy-Candidiasis-Ectodermal Dystrophy (APECED) Associated Gastritis - A Variable Phenotype SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 NCI, NIH, Bethesda, MD 20892 USA. NIDDK, NIH, Bethesda, MD 20892 USA. NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 626 BP 158A EP 158A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467300625 ER PT J AU Inaguma, S Felisiak-Golabek, A Wang, ZF Lasota, J Miettinen, MM AF Inaguma, Shingo Felisiak-Golabek, Anna Wang, Zengfeng Lasota, Jerzy Miettinen, Markku M. TI Mismatch Repair System Molecule Immunophenotype and BRAF V600E Genotype of PD-L1-Positive Primary and Metastatic Colorectal Carcinomas SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Aichi Med Univ, Nagakute, Aichi, Japan. NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 702 BP 176A EP 176A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467300701 ER PT J AU Noe, M Wood, LD Hackeng, W Brosens, LAA Bhaijee, F Debeljak, M Yu, J Boyce, A Robinson, C Eshleman, JR Hruban, RH Goggins, MG Collins, MT Lennon, AM Montgomery, EA AF Noe, Michael Wood, Laura D. Hackeng, Wenzel Brosens, Lodewijk A. A. Bhaijee, Feriyl Debeljak, Marija Yu, Jun Boyce, Alison Robinson, Cemre Eshleman, James R. Hruban, Ralph H. Goggins, Michael G. Collins, Michael T. Lennon, Anne Marie Montgomery, Elizabeth A. TI Gastrointestinal and Pancreatic Findings in Patients with McCune-Albright Syndrome SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Johns Hopkins Univ, Baltimore, MD USA. Univ Med Ctr Utrecht, Utrecht, Netherlands. NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 761 BP 190A EP 190A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301034 ER PT J AU Del Valle, JAB Zheng, QZ Esopi, D Rubenstein, M Hubbard, GK Moncaliano, MC Hruszkewycz, A Vaghasia, A Yegnasubramanian, S Wheelan, SJ Meeker, A Heaphy, CM De Marzo, AM AF Del Valle, Javier A. Baena Zheng, Qizhi Esopi, David Rubenstein, Michael Hubbard, Gretchen K. Moncaliano, Maria C. Hruszkewycz, Andrew Vaghasia, Ajay Yegnasubramanian, Srinivasan Wheelan, Sarah J. Meeker, Alan Heaphy, Christopher M. De Marzo, Angelo M. TI MYC Drives Overexpression of Telomerase RNA (hTR/TERC) in Prostate Cancer SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Johns Hopkins Univ, Sch Med, Baltimore, MD USA. Fdn Santa Fe Bogota, Bogota, Colombia. Univ Maryland Baltimore Cty, Baltimore, MD 21228 USA. NCI, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 853 BP 212A EP 212A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301126 ER PT J AU Merino, MJ Ricketts, C Xu, NZ Linehan, WM Moreno, V AF Merino, Maria J. Ricketts, Christopher Xu Naizhen Linehan, W. Marston Moreno, Vanessa TI What the Pathologist Needs to Know About the Role of Fumarate Hydratase in the Diagnosis of HLRCC Renal Cancer SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 [Merino, Maria J.; Ricketts, Christopher; Xu Naizhen; Linehan, W. Marston; Moreno, Vanessa] NCI, NIH, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 982 BP 243A EP 243A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301256 ER PT J AU Moreno, V Xu, NZ Srinivasan, R Linehan, MW Merino, MJ AF Moreno, Vanessa Xu Naizhen Srinivasan, Ramaprasad Linehan, Marston W. Merino, Maria J. TI The Unrecognized Morphologies of HLRCC Renal Cancer That Pathologists Need to Know. Molecular and IHC Findings SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 [Moreno, Vanessa; Xu Naizhen; Srinivasan, Ramaprasad; Linehan, Marston W.; Merino, Maria J.] NCI, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 989 BP 245A EP 245A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301263 ER PT J AU Lee, S Sahasrabuddhe, V Mendoza-Cervantes, D Rose, S Zhao, R Duggan, M AF Lee, Sandra Sahasrabuddhe, Vikrant Mendoza-Cervantes, Diana Rose, Sarah Zhao, Rachel Duggan, Maire TI Tissue-Based Immunohistochemical Biomarker Expression in Glandular Malignancies of the Cervix: A Systematic Review and Meta Analysis SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 South Hlth Campus, Calgary, AB, Canada. NCI, Bethesda, MD 20892 USA. Univ Calgary, Calgary, AB, Canada. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1191 BP 296A EP 296A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301467 ER PT J AU Thompson, LDR Jo, VY Agaimy, A Llombart-Bosch, A Morales, GN Machado, I Miettinen, MM Bishop, JA AF Thompson, Lester D. R. Jo, Vickie Y. Agaimy, Abbas Llombart-Bosch, Antonio Morales, Gema N. Machado, Isidro Miettinen, Markku M. Bishop, Justin A. TI Thirty-Nine Cases of Sinonasal Tract Alveolar Rhabdomyosarcoma in Adults SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 SCPMG, Woodland Hills, CA USA. Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. Univ Klinikum Erlangen, Erlangen, Germany. Univ Valencia, Valencia, Spain. Inst Oncol, Valencia, Spain. NIH, Bldg 10, Bethesda, MD 20892 USA. Johns Hopkins Med Inst, Baltimore, MD 21205 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1338 BP 333A EP 333A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301614 ER PT J AU Balakrishna, JP Hsu, A Ombrello, A Wang, WX Holland, SM Hickstein, DD Kastner, DL Aksentijevich, I Calvo, KR AF Balakrishna, Jayalakshmi P. Hsu, Amy Ombrello, Amanda Wang, Weixin Holland, Steven M. Hickstein, Dennis D. Kastner, Daniel L. Aksentijevich, Ivona Calvo, Katherine R. TI Spectrum of Bone Marrow Pathology in Patients with Germline Mutations in CECR1 SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 NIH, CC, DLM, Bldg 10, Bethesda, MD 20892 USA. NIAID, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. NCI, NIH, Bethesda, MD 20892 USA. NHGRI, NIH, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1358 BP 338A EP 338A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301634 ER PT J AU Boyer, D McKelvie, P de Leval, L Edlefsen, KL Ko, YH Aberman, Z Kovach, A Masih, A Nishino, H Weiss, L Meeker, A Nardi, V Palisoc, M Shao, LN Pittaluga, S Ferry, JA Harris, N Sohani, A AF Boyer, Daniel McKelvie, Penelope de Leval, Laurence Edlefsen, Kerstin L. Ko, Young-Hyeh Aberman, Zachary Kovach, Alexandra Masih, Aneal Nishino, Ha Weiss, Lawrence Meeker, Alan Nardi, Valentina Palisoc, Maryknoll Shao, Lina Pittaluga, Stefania Ferry, Judith A. Harris, Nancy Sohani, Aliyah TI Fibrin-Associated EBV plus Large B-Cell Lymphoma: An Indolent Neoplasm Distinct from DLBCL-CI SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Univ Michigan, Ann Arbor, MI 48109 USA. Massachusetts Gen Hosp, Boston, MA 02114 USA. St Vincents Hosp, Melbourne, Vic, Australia. CHU Vaudois, Lausanne, Switzerland. Univ Washington, Seattle, WA 98195 USA. Sungkyunkwan Univ, Seoul, South Korea. Florida Int Univ, Miami, FL 33199 USA. Vanderbilt Univ, 221 Kirkland Hall, Nashville, TN 37235 USA. Holmes Reg Med Ctr, Melbourne, FL USA. North Shore Med Ctr, Salem, MA USA. NeoGen Labs, Aliso Viejo, CA USA. Johns Hopkins Univ, Baltimore, MD USA. NCI, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1363 BP 339A EP 340A PG 2 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301639 ER PT J AU Egan, C Laurent, C Kallen, ME Pileri, S Campo, E Swerdlow, SH Piris, M Chan, WC Warnke, R Gascoyne, R Raffeld, M Pittaluga, S Jaffe, ES AF Egan, Caoimhe Laurent, Camille Kallen, Michael E. Pileri, Stefano Campo, Elias Swerdlow, Steven H. Piris, Miguel Chan, Wing C. Warnke, Roger Gascoyne, Randy Raffeld, Mark Pittaluga, Stefania Jaffe, Elaine S. TI Expansion of PD-1-Positive T-cells in Nodal Marginal Zone Lymphoma (MZL) A Diagnostic Pitfall SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 NIH, Bldg 10, Bethesda, MD 20892 USA. Inst Univ Canc Oncopole, Toulouse, France. European Inst Oncol, Milan, Italy. Univ Barcelona, Barcelona, Spain. Univ Pittsburgh, Pittsburgh, PA USA. Hosp Univ Marques de Valdecilla, Santander, Spain. City Hope Med Ctr, Duarte, CA USA. Stanford Univ, Stanford, CA 94305 USA. British Columbia Canc Agcy, Vancouver, BC, Canada. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1390 BP 346A EP 346A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467301666 ER PT J AU Florea, AD Young, NS Maric, I Jordan, EK Jiang, CJ Ahmad, F Braylan, R AF Florea, Alina Dulau Young, Neal S. Maric, Irina Jordan, Elaine K. Jiang, Chunjie Ahmad, Farhan Braylan, Raul TI Immunophenotypic Abnormalities Highly Suggestive of Paroxysmal Nocturnal Hemoglobinuria (PNH) Can Be Detected with Routine Flow Cytometric Analysis of Bone Marrow (BM) SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 [Florea, Alina Dulau; Young, Neal S.; Maric, Irina; Jordan, Elaine K.; Jiang, Chunjie; Ahmad, Farhan; Braylan, Raul] NIH, Bldg 10, Bethesda, MD 20892 USA. 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Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1529 BP 381A EP 381A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302108 ER PT J AU Wake, L Wang, WX Rao, K Uzel, G Calvo, KR AF Wake, Laura Wang, Weixin Rao, Koneti Uzel, Gulbu Calvo, Katherine R. TI Bone Marrow Features in Patients with Germline Mutations in CTLA4 Overlap with Aplastic Anemia and LGL Leukemia SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 NIH, Bldg 10, Bethesda, MD 20892 USA. NIAID, 9000 Rockville Pike, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1535 BP 383A EP 383A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302114 ER PT J AU Wang, HW Sharma, S Hahn, J Komarow, H Eisch, R Metcalfe, DD Maric, I AF Wang, Hao-Wei Sharma, Sachein Hahn, Jamie Komarow, Hirsh Eisch, Robin Metcalfe, Dean D. Maric, Irina TI PD-L1 and PD-1 Expression Patterns in Systemic Mastocytosis SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 [Wang, Hao-Wei; Sharma, Sachein; Hahn, Jamie; Komarow, Hirsh; Eisch, Robin; Metcalfe, Dean D.; Maric, Irina] NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1536 BP 383A EP 383A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302115 ER PT J AU Joneja, U Miettinen, MM Kshettry, V Evans, JJ Curtis, MT AF Joneja, Upasana Miettinen, Markku M. Kshettry, Varun Evans, James J. Curtis, Mark T. TI Loss of Expression of SWI/SNF Chromatin Remodeling Complex Proteins in Sporadic Pituitary Adenomas SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Thomas Jefferson Univ Hosp, Philadelphia, PA 19107 USA. NCI, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1741 BP 434A EP 434A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302315 ER PT J AU Bellolio, E Roa, JC Villaseca, M Ferreccio, C Adsay, V Losada, H Van Dyke, A Vivallo, C Becker, R Medina, K Fuentealba, P Araya, JC Koshiol, J AF Bellolio, Enrique Roa, Juan Carlos Villaseca, Miguel Ferreccio, Catterina Adsay, Volkan Losada, Hector Van Dyke, Alison Vivallo, Carolina Becker, Renato Medina, Karie Fuentealba, Patricia Araya, Juan Carlos Koshiol, Jill TI Pathologic Findings from Totally Sampled and Mapped Gallbladders in a High-Risk Population SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Univ La Frontera, Temuco, Chile. Pontificia Univ Catolica Chile, Santiago, Chile. Emory Univ, Atlanta, GA 30322 USA. NCI, Rockville, MD USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1774 BP 442A EP 442A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302348 ER PT J AU Chu, J Jang, KT Roa, JC Hong, SM Lee, KB Koshiol, J Memis, B Muraki, T Reid, MD Goodman, MM Nash, R Jang, J Adsay, V Kim, H Choi, H AF Chu, Jinah Jang, Kee-Taek Roa, Juan Carlos Hong, Seung-Mo Lee, Kyoung Bun Koshiol, Jill Memis, Bahar Muraki, Takahashi Reid, Michelle D. Goodman, Michael M. Nash, Rebecca Jang, Jinyoung Adsay, Volkan Kim, Haeryoung Choi, Hyejeong TI Prognostic Validation of T2-Substaging of Gallbladder Carcinomas: Survival Analysis of 127 Korean Cases with T2 Substaging and Survival Correlation SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Samsung Med Ctr, Seoul, South Korea. Pontificia Univ Catolica Chile, Santiago, Metropolitana, Chile. Asan Med Ctr, Seoul, South Korea. Seoul Natl Univ Hosp, Seoul, South Korea. Seoul Natl Bundang Hosp, Seongnam, Gyeonggi Do, South Korea. Ulsan Univ Hosp, Ulsan, South Korea. NCI, Rockville, MD USA. Emory Univ Hosp, 1364 Clifton Rd NE, Atlanta, GA 30322 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1778 BP 443A EP 443A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302352 ER PT J AU Memis, B Reid, MD Bedolla, G Roa, JC Araya, JC Bellolio, E Villaseca, M Van Dyke, A Xue, Y Quigley, B Krasinskas, A Polito, H Ghosh, A Koshiol, J Adsay, V AF Memis, Bahar Reid, Michelle D. Bedolla, Gabriella Roa, Juan Carlos Araya, Juan Carlos Bellolio, Enrique Villaseca, Miguel Van Dyke, Alison Xue, Yue Quigley, Brian Krasinskas, Alyssa Polito, Humbert Ghosh, Abheek Koshiol, Jill Adsay, Volkan TI Pathologic Findings in Gallbladders: An Analysis of the True Frequency and Distribution in 203 Totally Sampled and Mapped Gallbladders from a North American Population SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Emory Univ, Atlanta, GA 30322 USA. Pontificia Univ Catolica Chile, Santiago, Chile. Univ La Frontera, Temuco, Chile. NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1795 BP 447A EP 447A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302369 ER PT J AU Reid, MD Graham, R Memis, B Kipp, B Fritcher, EB Roa, JC Araya, JC Villaseca, MA Bellolio, E Losada, H Sarmiento, JM Koshiol, J Adsay, V AF Reid, Michelle D. Graham, Rondell Memis, Bahar Kipp, Benjamin Fritcher, Emily Barr Roa, Juan Carlos Araya, Juan Carlos Villaseca, Miguel Angel Bellolio, Enrique Losada, Hector Sarmiento, Juan M. Koshiol, Jill Adsay, Volkan TI FISH'ing to Verify the Nature of Different Epithelial Alterations in the Gallbladder: Molecular Abnormalities Are Common in Neoplastic but Not in Reactive Lesions, Thus Validating the Santiago Criteria and Potential Usefulness of FISH as an Adjunct in Diagnosis SO MODERN PATHOLOGY LA English DT Meeting Abstract CT 106th Annual Meeting of the United-States-and-Canadian-Academy-of-Pathology (USCAP) CY MAR 04-10, 2017 CL San Antonio, TX SP US & Canadian Acad Pathol C1 Emory, Atlanta, GA USA. Mayo Clin, Rochester, MN USA. Pontificia Univ Catolica Chile, Santiago, Chile. Univ La Frontera, Temuco, Chile. NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU NATURE PUBLISHING GROUP PI NEW YORK PA 75 VARICK ST, 9TH FLR, NEW YORK, NY 10013-1917 USA SN 0893-3952 EI 1530-0285 J9 MODERN PATHOL JI Mod. Pathol. PD FEB PY 2017 VL 30 SU 2 MA 1808 BP 450A EP 450A PG 1 WC Pathology SC Pathology GA EL2RO UT WOS:000394467302382 ER PT J AU Sweeney, CL Zou, JZ Choi, U Merling, RK Liu, A Bodansky, A Burkett, S Kim, JW De Ravin, SS Malech, HL AF Sweeney, Colin L. Zou, Jizhong Choi, Uimook Merling, Randall K. Liu, Alexander Bodansky, Aaron Burkett, Sandra Kim, Jung-Woong De Ravin, Suk See Malech, Harry L. TI Targeted Repair of CYBB in X-CGD iPSCs Requires Retention of Intronic Sequences for Expression and Functional Correction SO MOLECULAR THERAPY LA English DT Article ID CHRONIC GRANULOMATOUS-DISEASE; PLURIPOTENT STEM-CELLS; GENE-EXPRESSION; HEMATOPOIETIC-CELLS; CD34(+) CELLS; GENERATION; THERAPY; VECTORS; NEUTROPHILS; TRANSGENES AB X-linked chronic granulomatous disease (X-CGD) is an immune deficiency resulting from defective production of microbicidal reactive oxygen species (ROS) by phagocytes. Causative mutations occur throughout the CYBB gene, resulting in absent or defective gp91(phox) protein expression. To correct CYBB exon 5 mutations while retaining normal gene regulation, we utilized TALEN or Cas9 for exon 5 replacement in induced pluripotent stem cells (iPSCs) from patients, which restored gp91phox expression and ROS production in iPSC derived granulocytes. Alternate approaches for correcting the majority of X-CGD mutations were assessed, involving TALEN- or Cas9-mediated insertion of CYBB minigenes at exon 1 or 2 of the CYBB locus. Targeted insertion of an exon 1-13 minigene into CYBB exon 1 resulted in no detectable gp91phox expression or ROS activity in iPSC-derived granulocytes. In contrast, targeted insertion of an exon 2-13 minigene into exon 2 restored both gp91phox and ROS activity. This demonstrates the efficacy of two correction strategies: seamless repair of specific CYBB mutations by exon replacement or targeted insertion of an exon 2-13 minigene to CYBB exon 2 while retaining exon/intron 1. Furthermore, it highlights a key issue for targeted insertion strategies for expression from an endogenous promoter: retention of intronic elements can be necessary for expression. C1 [Sweeney, Colin L.; Choi, Uimook; Merling, Randall K.; Liu, Alexander; Bodansky, Aaron; De Ravin, Suk See; Malech, Harry L.] NIAID, Host Def Lab, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Zou, Jizhong] NHLBI, Ctr Mol Med, NIH, Bldg 10, Bethesda, MD 20892 USA. [Burkett, Sandra] NCI, Mol Cytogenet Sect, MCGP, Ctr Canc Res,NIH, Frederick, MD 21702 USA. [Kim, Jung-Woong] Chung Ang Univ, Dept Life Sci, Seoul 06974, South Korea. RP Sweeney, CL (reprint author), NIAID, LHD, NIH, Bldg 10,Room 5-3888,10 Ctr Dr,MSC 1456, Bethesda, MD 20892 USA. EM sweeneyco@nih.gov FU Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health [Z01-Al-00644, Z01-Al-00988]; National Cancer Institute, National Institutes of Health [HHSN261200800001E] FX This research was supported by the Intramural Research Program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health, under Intramural Projects Z01-Al-00644 and Z01-Al-00988, and was also funded in part with federal funds from the National Cancer Institute, National Institutes of Health, under Contract HHSN261200800001E. NR 40 TC 1 Z9 1 U1 0 U2 0 PU CELL PRESS PI CAMBRIDGE PA 600 TECHNOLOGY SQUARE, 5TH FLOOR, CAMBRIDGE, MA 02139 USA SN 1525-0016 EI 1525-0024 J9 MOL THER JI Mol. Ther. PD FEB 1 PY 2017 VL 25 IS 2 BP 321 EP 330 DI 10.1016/j.ymthe.2016.11.012 PG 10 WC Biotechnology & Applied Microbiology; Genetics & Heredity; Medicine, Research & Experimental SC Biotechnology & Applied Microbiology; Genetics & Heredity; Research & Experimental Medicine GA EP3UT UT WOS:000397307900006 PM 28153086 ER PT J AU Blauwendraat, C Nalls, MA Federoff, M Pletnikova, O Ding, JH Letson, C Geiger, JT Gibbs, JR Hernandez, DG Troncoso, JC Simon-Sanchez, J Scholz, SW AF Blauwendraat, Cornelis Nalls, Mike A. Federoff, Monica Pletnikova, Olga Ding, Jinhui Letson, Christopher Geiger, Joshua T. Gibbs, J. Raphael Hernandez, Dena G. Troncoso, Juan C. Simon-Sanchez, Javier Scholz, Sonja W. CA Int Parkinson's Dis Genomics Conso TI ADORA1 mutations are not a common cause of Parkinson's disease and dementia with Lewy bodies SO MOVEMENT DISORDERS LA English DT Letter DE ADORA1; Parkinson's disease; dementia with Lewy bodies; PARK16 C1 [Blauwendraat, Cornelis; Geiger, Joshua T.; Scholz, Sonja W.] NINDS, Neurodegenerat Dis Res Unit, NIH, Bethesda, MD 20892 USA. [Nalls, Mike A.; Federoff, Monica; Ding, Jinhui; Letson, Christopher; Gibbs, J. Raphael; Hernandez, Dena G.] NIA, Neurogenet Lab, NIH, Bethesda, MD 20892 USA. [Nalls, Mike A.; Pletnikova, Olga] Kelly Serv, Rockville, MD USA. [Hernandez, Dena G.; Simon-Sanchez, Javier] German Ctr Neurodegenerat Dis DZNE, Tubingen, Germany. [Troncoso, Juan C.] Johns Hopkins Univ, Sch Med, Dept Pathol Neuropathol, Baltimore, MD USA. [Simon-Sanchez, Javier] Univ Tubingen, Hertie Inst Clin Brain Res, Tubingen, Germany. [Scholz, Sonja W.] Johns Hopkins Univ, Med Ctr, Dept Neurol, Baltimore, MD 21218 USA. RP Blauwendraat, C (reprint author), NINDS, Neurodegenerat Dis Res Unit, 35 Convent Dr, Bethesda, MD 20892 USA. EM cornelis.blauwendraat@nih.gov OI Scholz, Sonja/0000-0002-6623-0429 FU National Institutes of Health (National Institute on Aging, National Institute of Neurological Disorders and Stroke) [Z01 AG000949, NS003154-01]; Johns Hopkins Alzheimer's Disease Research Center [P50AG05146]; Parkinson's Disease Research Center [P50NS38377] FX This research was supported in part by the Intramural Research Program of the National Institutes of Health (National Institute on Aging, National Institute of Neurological Disorders and Stroke; project numbers Z01 AG000949 and NS003154-01) and by the Johns Hopkins Alzheimer's Disease Research Center (P50AG05146) and Parkinson's Disease Research Center (P50NS38377). NR 5 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0885-3185 EI 1531-8257 J9 MOVEMENT DISORD JI Mov. Disord. PD FEB PY 2017 VL 32 IS 2 BP 298 EP 299 DI 10.1002/mds.26886 PG 2 WC Clinical Neurology SC Neurosciences & Neurology GA EM9QJ UT WOS:000395645900022 PM 27987235 ER PT J AU Kwon-Chung, KJ Bennett, JE Wickes, BL Meyer, W Cuomo, CA Wollenburg, KR Bicanic, TA Castaneda, E Chang, YC Chen, J Cogliati, M Dromer, F Ellis, D Filler, SG Fisher, MC Harrison, TS Holland, SM Kohno, S Kronstad, JW Lazera, M Levitz, SM Lionakis, MS May, RC Ngamskulrongroj, P Pappas, PG Perfect, JR Rickerts, V Sorrell, TC Walsh, TJ Williamson, PR Xu, JP Zelazny, AM Casadevall, A AF Kwon-Chung, Kyung J. Bennett, John E. Wickes, Brian L. Meyer, Wieland Cuomo, Christina A. Wollenburg, Kurt R. Bicanic, Tihana A. Castaneda, Elizabeth Chang, Yun C. Chen, Jianghan Cogliati, Massimo Dromer, Francoise Ellis, David Filler, Scott G. Fisher, Matthew C. Harrison, Thomas S. Holland, Steven M. Kohno, Shigeru Kronstad, James W. Lazera, Marcia Levitz, Stuart M. Lionakis, Michail S. May, Robin C. Ngamskulrongroj, Popchai Pappas, Peter G. Perfect, John R. Rickerts, Volker Sorrell, Tania C. Walsh, Thomas J. Williamson, Peter R. Xu, Jianping Zelazny, Adrian M. Casadevall, Arturo TI The Case for Adopting the "Species Complex" Nomenclature for the Etiologic Agents of Cryptococcosis SO MSPHERE LA English DT Article DE Cryptococcosis; Cryptococcus gattii; Cryptococcus neoformans; clade; genetic diversity; new nomenclature; species complex ID NEOFORMANS; GATTII; FUNGI; POPULATION; HIV/AIDS; REVEALS; HYBRID AB Cryptococcosis is a potentially lethal disease of humans/animals caused by Cryptococcus neoformans and Cryptococcus gattii. Distinction between the two species is based on phenotypic and genotypic characteristics. Recently, it was proposed that C. neoformans be divided into two species and C. gattii into five species based on a phylogenetic analysis of 115 isolates. While this proposal adds to the knowledge about the genetic diversity and population structure of cryptococcosis agents, the published genotypes of 2,606 strains have already revealed more genetic diversity than is encompassed by seven species. Naming every clade as a separate species at this juncture will lead to continuing nomenclatural instability. In the absence of biological differences between clades and no consensus about how DNA sequence alone can delineate a species, we recommend using "Cryptococcus neoformans species complex" and "C. gattii species complex" as a practical intermediate step, rather than creating more species. This strategy recognizes genetic diversity without creating confusion. C1 [Kwon-Chung, Kyung J.; Bennett, John E.; Chang, Yun C.; Holland, Steven M.; Lionakis, Michail S.; Williamson, Peter R.] NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20852 USA. [Wickes, Brian L.] Univ Texas Hlth Sci Ctr San Antonio, San Antonio, TX USA. [Meyer, Wieland] Univ Sydney, Mol Mycol Res Lab, Sydney, NSW, Australia. [Meyer, Wieland] Westmead Inst Med Res, Westmead, NSW, Australia. [Cuomo, Christina A.] MIT & Harvard, Broad Inst, Cambridge, MA USA. [Wollenburg, Kurt R.] NIAID, Off Cyber Infrastruct & Computat Biol, NIH, Bethesda, MD USA. [Bicanic, Tihana A.; Harrison, Thomas S.] St Georges Univ London, Inst Infect & Immun, London, England. [Castaneda, Elizabeth] Colombia Inst Nacl Salud, Bogota, Colombia. [Chen, Jianghan] Second Mil Med Univ, Changzheng Hosp, Mycol Ctr, Shanghai, Peoples R China. [Cogliati, Massimo] Univ Milan, Dipartimento Sci Biomed Salute, Milan, Italy. [Dromer, Francoise] Inst Pasteur, Mol Mycol Unit, Paris, France. [Ellis, David] Univ Adelaide, Sch Biol Sci, Adelaide, SA, Australia. [Filler, Scott G.] Harbor UCLA, Los Angeles Biomed Res Inst, Med Ctr, Los Angeles, CA USA. [Fisher, Matthew C.] Imperial Coll London, Dept Infect Dis Epidemiol, London, England. [Kohno, Shigeru] Nagasaki Univ, Nagasaki, Japan. [Kronstad, James W.] Univ British Columbia, Michael Smith Labs, Vancouver, BC, Canada. [Lazera, Marcia] Fiocruz MS, Inst Nacl Infectol Evandro Chagas, Rio De Janeiro, Brazil. [Levitz, Stuart M.] Univ Massachusetts, Sch Med, Dept Med, Worcester, MA USA. [May, Robin C.] Univ Birmingham, Inst Microbiol & Infect, Birmingham, W Midlands, England. [May, Robin C.] Univ Birmingham, Sch Biosci, Birmingham, W Midlands, England. [Ngamskulrongroj, Popchai] Mahidol Univ, Siriraj Hosp, Fac Med, Bangkok, Thailand. [Pappas, Peter G.] Univ Alabama Birmingham, Div Infect Dis, Birmingham, AL USA. [Perfect, John R.] Duke Univ, Sch Med, Durham, NC USA. [Rickerts, Volker] Robert Koch Inst, Berlin, Germany. [Sorrell, Tania C.] Univ Sydney, Marie Bashir Inst Infect Dis & Biosecur, Sydney, NSW, Australia. [Walsh, Thomas J.] Weill Cornell Med, Dept Med, New York, NY USA. [Walsh, Thomas J.] Weill Cornell Med, Dept Pediat, New York, NY USA. [Walsh, Thomas J.] Weill Cornell Med, Dept Microbiol & Immunol, New York, NY USA. [Xu, Jianping] McMaster Univ, Dept Biol, Hamilton, ON, Canada. [Xu, Jianping] Hainan Med Coll, Haikou, Hainan, Peoples R China. [Zelazny, Adrian M.] NIH, Dept Lab Med, Ctr Clin, Bethesda, MD USA. [Casadevall, Arturo] Johns Hopkins Sch Med, Baltimore, MD USA. RP Kwon-Chung, KJ (reprint author), NIAID, Lab Clin Infect Dis, NIH, Bethesda, MD 20852 USA. EM june_kwon-chung@nih.gov FU intramural program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health; NHMRC [APP1031943]; European Research Council under the European Union's Seventh Framework Program (FP7); ERC [614562]; Royal Society Wolfson Research Merit Award; Lister Institute Prize Fellowship FX This work was supported by funds from the intramural program of the National Institute of Allergy and Infectious Diseases, National Institutes of Health, to K.J.K.-C., J.E.B., Y.C.C., S.M.H., M.L., and P.R.W. and an NHMRC grant, APP1031943, to W.M. and T.C.S. R.C.M. is supported by the European Research Council under the European Union's Seventh Framework Program (FP7/2007-2013) and ERC grant agreement no. 614562 and by a Royal Society Wolfson Research Merit Award and a Lister Institute Prize Fellowship. T.C.S. is a Sydney Medical School Foundation Fellow. NR 40 TC 0 Z9 0 U1 1 U2 1 PU AMER SOC MICROBIOLOGY PI WASHINGTON PA 1752 N ST NW, WASHINGTON, DC 20036-2904 USA SN 2379-5042 J9 MSPHERE JI mSphere PD FEB PY 2017 VL 2 IS 2 AR e00357-16 DI 10.1128/mSphere.00357-16 PG 7 WC Microbiology SC Microbiology GA EL4BY UT WOS:000394567400003 ER PT J AU Xia, ZQ Steele, S Bakshi, A White, C Schindler, M Bhagavatheeshwaran, G Dewey, B Price, L Ohayon, J Cortese, I De Jager, P De Jager, P Reich, D AF Xia, Zongqi Steele, Sonya Bakshi, Anshika White, Charles Schindler, Matthew Bhagavatheeshwaran, Govind Dewey, Blake Price, Lauren Ohayon, Joan Cortese, Irene De Jager, Philip De Jager, Philip Reich, Daniel TI Investigating early evidence of multiple sclerosis in a prospective study of high risk family members SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Xia, Zongqi] Univ Pittsburgh, Pittsburgh, PA 15260 USA. [Steele, Sonya; Bakshi, Anshika; Schindler, Matthew; Bhagavatheeshwaran, Govind; Dewey, Blake; Price, Lauren; Ohayon, Joan; Cortese, Irene; Reich, Daniel] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [White, Charles; De Jager, Philip] Brigham & Womens Hosp, Boston, MA 02115 USA. [De Jager, Philip] Harvard Med Sch, Boston, MA USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA S1.8 BP 5 EP 5 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800009 ER PT J AU Jacobson, S AF Jacobson, Steve TI Evidence Linking HHV-6 with MS SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Jacobson, Steve] NIH, Viral Immunol Sect, Bethesda, MD USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA S4.2 BP 8 EP 8 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800017 ER PT J AU Kosa, P Barbour, C Komori, M Tanigawa, M Wu, TX Johnson, K Herbst, R Wang, Y Tan, K Greenwood, M Bielekova, B AF Kosa, Peter Barbour, Christopher Komori, Mika Tanigawa, Makoto Wu, Tianxia Johnson, Kory Herbst, Ronald Wang, Yue Tan, Keith Greenwood, Mark Bielekova, Bibiana TI Molecular-based diagnosis of Multiple Sclerosis and its progressive stage SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Kosa, Peter; Komori, Mika; Tanigawa, Makoto; Wu, Tianxia; Johnson, Kory; Bielekova, Bibiana] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Barbour, Christopher; Greenwood, Mark] Montana State Univ, Bozeman, MT 59717 USA. [Herbst, Ronald; Wang, Yue] MedImmune LLC, Gaithersburg, MD USA. [Tan, Keith] MedImmune Ltd, Cambridge, England. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P001 BP 11 EP 11 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800027 ER PT J AU Bielekova, B Barbour, C Maltos, MT Weideman, AM Kosa, P Komori, M Johnson, K Greenwood, M AF Bielekova, Bibiana Barbour, Christopher Maltos, Marco T. Weideman, Ann Marie Kosa, Peter Komori, Mika Johnson, Kory Greenwood, Mark TI New multiple sclerosis severity scale predicts future accumulation of disability SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Bielekova, Bibiana; Maltos, Marco T.; Weideman, Ann Marie; Kosa, Peter; Komori, Mika; Johnson, Kory] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Barbour, Christopher; Greenwood, Mark] Montana State Univ, Bozeman, MT 59717 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P023 BP 21 EP 21 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800049 ER PT J AU Xia, ZQ Steele, SU Bakshi, AC White, CC Schindler, MK Bhagavatheeshwaran, G Dewey, BE Price, L Ohayon, J Cortese, I De Jager, PL Reich, DS AF Xia, Zongqi Steele, Sonya U. Bakshi, Anshika C. White, Charles C. Schindler, Matthew K. Bhagavatheeshwaran, Govind Dewey, Blake E. Price, Lauren Ohayon, Joan Cortese, Irene De Jager, Philip L. Reich, Daniel S. TI Investigating early evidence of multiple sclerosis in a prospective study of high risk family members SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Xia, Zongqi] Univ Pittsburgh, Pittsburgh, PA USA. [Xia, Zongqi; De Jager, Philip L.] Harvard Med Sch, Boston, MA USA. [Steele, Sonya U.; Bakshi, Anshika C.; Schindler, Matthew K.; Bhagavatheeshwaran, Govind; Dewey, Blake E.; Price, Lauren; Ohayon, Joan; Cortese, Irene; Reich, Daniel S.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [White, Charles C.; De Jager, Philip L.] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P074 BP 42 EP 42 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800098 ER PT J AU Martinez-Calvo, L White, CC Johnson, C Xia, ZQ Reich, DS Hart, JE De Jager, P AF Martinez-Calvo, Laura White, Charles C. Johnson, Catherine Xia, Zongqi Reich, Daniel S. Hart, Jaime E. De Jager, Philip TI Geographic location is associated with MS susceptibility in family members enrolled in the GEMS study SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Martinez-Calvo, Laura] Univ Santiago de Compostela, Santiago De Compostela, Spain. [White, Charles C.; Johnson, Catherine; Hart, Jaime E.; De Jager, Philip] Brigham & Womens Hosp, 75 Francis St, Boston, MA 02115 USA. [Xia, Zongqi; Hart, Jaime E.; De Jager, Philip] Harvard Med Sch, Boston, MA USA. [Xia, Zongqi] Univ Pittsburgh, Pittsburgh, PA USA. [Reich, Daniel S.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Hart, Jaime E.] Harvard TH Chan Sch Publ Hlth, Boston, MA USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P078 BP 44 EP 44 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800102 ER PT J AU Lefeuvre, JA Guy, J Leibovitch, E Santin, M Silva, AC Luciano, N Jacobson, S Lehericy, S Reich, DS Sati, P AF Lefeuvre, Jennifer A. Guy, Joseph Leibovitch, Emily Santin, Mathieu Silva, Afonso C. Luciano, Nicholas Jacobson, Steve Lehericy, Stephane Reich, Daniel S. Sati, Pascal TI Characterization of spinal cord lesions by MRI in marmoset EAE SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Lefeuvre, Jennifer A.; Guy, Joseph; Luciano, Nicholas; Reich, Daniel S.; Sati, Pascal] NIH, Translat Neuroradiol Sect, Bldg 10, Bethesda, MD 20892 USA. [Lefeuvre, Jennifer A.; Leibovitch, Emily; Lehericy, Stephane] ICM, Paris, France. [Leibovitch, Emily; Jacobson, Steve] NIH, Viral Immunol Sect, Bldg 10, Bethesda, MD 20892 USA. [Silva, Afonso C.] NIH, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P098 BP 52 EP 52 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800122 ER PT J AU Papinutto, N Bakshi, R Calabresi, P Caverzasi, E Constable, RT Kirkish, G Bhagavatheeshwaran, G Oh, J Pelletier, D Pham, DL Reich, DS Rooney, W Roy, S Schwartz, D Shinohara, RT Sicotte, N Stern, W Tagge, I Tauhid, S Tummala, S Henry, RG AF Papinutto, Nico Bakshi, Rohit Calabresi, Peter Caverzasi, Eduardo Constable, R. T. Kirkish, Gina Bhagavatheeshwaran, Govind Oh, Jiwon Pelletier, Daniel Pham, Dzung L. Reich, Daniel S. Rooney, William Roy, Snehashis Schwartz, Daniel Shinohara, Russell T. Sicotte, Nancy Stern, William Tagge, Ian Tauhid, Shahamat Tummala, Subhash Henry, Roland G. TI Gradient non-linearity effects on upper cervical cord area measurement from MPRAGE brain MRI acquisitions SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Papinutto, Nico; Caverzasi, Eduardo; Kirkish, Gina; Stern, William; Henry, Roland G.] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Bakshi, Rohit] Harvard Med Sch, Brigham & Womens Hosp, Boston, MA USA. [Calabresi, Peter; Oh, Jiwon] Johns Hopkins Sch Med, Baltimore, MD USA. [Constable, R. T.] Yale Univ, New Haven, CT USA. [Bhagavatheeshwaran, Govind] NIH, Bldg 10, Bethesda, MD 20892 USA. [Oh, Jiwon] Univ Toronto, Toronto, ON, Canada. [Pelletier, Daniel] Univ Southern Calif, Los Angeles, CA USA. [Reich, Daniel S.; Roy, Snehashis] Henry M Jackson Fdn, Bethesda, MD USA. [Reich, Daniel S.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Rooney, William; Schwartz, Daniel; Tagge, Ian] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. [Shinohara, Russell T.] Univ Penn, Philadelphia, PA 19104 USA. [Shinohara, Russell T.] Johns Hopkins Univ, Baltimore, MD USA. [Sicotte, Nancy] Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA. [Tauhid, Shahamat; Tummala, Subhash] Brigham & Womens Hosp, Brookline, MA USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P116 BP 60 EP 60 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800139 ER PT J AU Lefeuvre, JA Duan, Q De Zwart, J van Gelderen, P Lehericy, S Jacobson, S Reich, DS Bhagavatheeshwaran, G AF Lefeuvre, Jennifer A. Duan, Qi De Zwart, Jacobus van Gelderen, Peter Lehericy, Stephane Jacobson, Steve Reich, Daniel S. Bhagavatheeshwaran, Govind TI MRI of the thoracic spinal cord in multiple sclerosis at 7T SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Lefeuvre, Jennifer A.; Reich, Daniel S.; Bhagavatheeshwaran, Govind] NIH, Translat Neuroradiol Sect, Bldg 10, Bethesda, MD 20892 USA. [Lefeuvre, Jennifer A.; Lehericy, Stephane] ICM, Paris, France. [Duan, Qi; De Zwart, Jacobus; van Gelderen, Peter] NIH, Adv MRI Sect, Bldg 10, Bethesda, MD 20892 USA. [Jacobson, Steve] NIH, Viral Immunol Sect, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P121 BP 62 EP 63 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800144 ER PT J AU Oh, J Bakshi, R Calabresi, PA Crainiceanu, C Henry, RG Bhagavatheeshwaran, G Pelletier, D Reich, DS Rooney, W Shinohara, RT Simon, JH Sicotte, N Pan, L AF Oh, Jiwon Bakshi, Rohit Calabresi, Peter A. Crainiceanu, Ciprian Henry, Roland G. Bhagavatheeshwaran, Govind Pelletier, Daniel Reich, Daniel S. Rooney, William Shinohara, Russell T. Simon, Jack H. Sicotte, Nancy Pan, Li TI The North American Imaging in Multiple Sclerosis (NAIMS) Cooperative Pilot Project: Design, Implementation and Future Directions SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Oh, Jiwon] Univ Toronto, Toronto, ON, Canada. [Oh, Jiwon] Johns Hopkins Sch Med, Baltimore, MD USA. [Bakshi, Rohit] Harvard Med Sch, Brigham & Womens Hosp, Boston, MA USA. [Calabresi, Peter A.; Crainiceanu, Ciprian] Johns Hopkins Univ, Baltimore, MD USA. [Henry, Roland G.] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Bhagavatheeshwaran, Govind] NIH, Bldg 10, Bethesda, MD 20892 USA. [Pelletier, Daniel] Univ Southern Calif, Los Angeles, CA USA. [Reich, Daniel S.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Rooney, William; Simon, Jack H.] Oregon Hlth & Sci Univ, Portland, OR 97201 USA. [Shinohara, Russell T.] Univ Penn, Philadelphia, PA 19104 USA. [Sicotte, Nancy] Cedars Sinai Med Ctr, Los Angeles, CA 90048 USA. [Pan, Li] Siemens Healthcare, Baltimore, MD USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P125 BP 64 EP 65 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800148 ER PT J AU Sati, P Patil, S Krueger, G Reich, DS AF Sati, Pascal Patil, Sunil Krueger, Gunnar Reich, Daniel S. TI Rapid high-resolution MRI of central veins in multiple sclerosis brain at 1.5 tesla: a pilot study SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Sati, Pascal; Reich, Daniel S.] NIH, Translat Neuroradiol Sect, Bldg 10, Bethesda, MD 20892 USA. [Patil, Sunil] Siemens Med Solut, Bethesda, MD USA. [Krueger, Gunnar] Siemens Med Solut, Burlington, MA USA. NR 1 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P129 BP 66 EP 66 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800152 ER PT J AU Absinta, M Cortese, I Vuolo, L Bhagavatheeshwaran, G Ohayon, J Meani, A Martinelli, V Scotti, R Falini, A Smith, BR Nath, A Jacobson, S Filippi, M Reich, DS AF Absinta, Martina Cortese, Irene Vuolo, Luisa Bhagavatheeshwaran, Govind Ohayon, Joan Meani, Alessandro Martinelli, Vittorio Scotti, Roberta Falini, Andrea Smith, Bryan R. Nath, Avidra Jacobson, Steve Filippi, Massimo Reich, Daniel S. TI Prevalence of Leptomeningeal Contrast Enhancement In Multiple Sclerosis Versus Other Chronic Neuroinflammatory Diseases SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Absinta, Martina; Cortese, Irene; Vuolo, Luisa; Bhagavatheeshwaran, Govind; Ohayon, Joan; Smith, Bryan R.; Nath, Avidra; Reich, Daniel S.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Meani, Alessandro; Martinelli, Vittorio; Scotti, Roberta; Falini, Andrea; Filippi, Massimo] Ist Sci San Raffaele, Milan, Italy. [Jacobson, Steve] NIH, Viral Immunol Sect, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P131 BP 67 EP 67 PG 1 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800154 ER PT J AU Tatomir, A Rus, V Nguyen, V Boodhoo, D Mekala, AP Cudrici, CD Badea, TC Rus, H AF Tatomir, Alexandru Rus, Violeta Vinh Nguyen Boodhoo, Dallas Mekala, Armugam P. Cudrici, Cornelia D. Badea, Tudor C. Rus, Horea TI RGC-32 promotes Th17 cell differentiation and enhances experimental autoimmune encephalomyelitis SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Tatomir, Alexandru; Rus, Violeta; Vinh Nguyen; Boodhoo, Dallas; Mekala, Armugam P.; Cudrici, Cornelia D.; Rus, Horea] Univ Maryland, Sch Med, Baltimore, MD 21201 USA. [Cudrici, Cornelia D.; Badea, Tudor C.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Rus, Horea] Vet Adm Multiple Sclerosis Ctr Excellence East, Baltimore, MD USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P159 BP 78 EP 79 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800182 ER PT J AU Rothman, AM Button, J Balcer, LJ Frohman, E Frohman, T Reich, DS Saidha, S Calabresi, P AF Rothman, Alissa M. Button, Julia Balcer, Laura J. Frohman, Elliot Frohman, Teresa Reich, Daniel S. Saidha, Shiv Calabresi, Peter TI Retinal measurements and visual function predict 10-year disability in multiple sclerosis SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Rothman, Alissa M.; Button, Julia; Saidha, Shiv; Calabresi, Peter] Johns Hopkins Sch Med, Baltimore, MD USA. [Balcer, Laura J.] NYU, Sch Med, New York, NY USA. [Frohman, Elliot; Frohman, Teresa] Univ Texas Southwestern Med Ctr, Dallas, TX USA. [Reich, Daniel S.] NIH, Translat Neuroradiol Sect, Bldg 10, Bethesda, MD 20892 USA. [Reich, Daniel S.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA P168 BP 82 EP 83 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800191 ER PT J AU Solomon, AJ Dewey, BE Watts, R Reich, DS AF Solomon, Andrew J. Dewey, Blake E. Watts, Richard Reich, Daniel S. TI MRI Evaluation of Thalamic Volume Differentiates MS from Common Mimics SO MULTIPLE SCLEROSIS JOURNAL LA English DT Meeting Abstract CT Forum of the Americas-Committee-for-Treatment-and-Research-in-Multiple-Sclerosis (ACTRIMS) CY FEB 23-25, 2017 CL Orlando, FL SP Americas Comm Treatment & Res Multiple Sclerosis C1 [Solomon, Andrew J.; Watts, Richard] Univ Vermont, Burlington, VT USA. [Dewey, Blake E.] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Reich, Daniel S.] NIH, Translat Neuroradiol Sect, Bldg 10, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS LTD PI LONDON PA 1 OLIVERS YARD, 55 CITY ROAD, LONDON EC1Y 1SP, ENGLAND SN 1352-4585 EI 1477-0970 J9 MULT SCLER J JI Mult. Scler. J. PD FEB PY 2017 VL 23 IS 1 SU 1 MA LB197 BP 97 EP 98 PG 2 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM5YB UT WOS:000395388800223 ER PT J AU Punetha, J Kesari, A Hoffman, EP Gos, M Kaminska, A Kostera-Pruszczyk, A Hausmanowa-Petrusewicz, I Hu, Y Zou, YQ Bonnemann, CG Jedrzejowska, M AF Punetha, Jaya Kesari, Akanchha Hoffman, Eric P. Gos, Monika Kaminska, Anna Kostera-Pruszczyk, Anna Hausmanowa-Petrusewicz, Irena Hu, Ying Zou, Yaqun Bonnemann, Carsten G. Jedrzejowska, Maria TI Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects SO MUSCLE & NERVE LA English DT Article DE Bethlem myopathy; collagen VI; collagen XII; congenital myopathy; floppy infant; hypotonia; targeted sequencing; Ullrich congenital muscular dystrophy ID COLLAGEN XII; MUTATIONS; SUBSTITUTIONS; SERVER; BONE AB IntroductionMutations in the COL12A1 (collagen, type XII, alpha 1) gene have been described in a milder Bethlem-like myopathy in 6 patients from 3 families (dominant missense), and in a severe congenital form with failure to attain ambulation in 2 patients in a single pedigree (recessive loss-of-function). MethodsWe describe an 8-year-old girl of Polish origin who presented with profound hypotonia and joint hyperlaxity at birth after a pregnancy complicated by oligohydramnios and intrauterine growth retardation. ResultsWe identified a novel, potentially pathogenic heterozygous missense COL12A1 c.8329G>C (p.Gly2777Arg) variant using a targeted sequencing panel. Patient fibroblast studies confirmed intracellular retention of the COL12A1 protein, consistent with a dominant-negative mutation. ConclusionsAs our patient showed a more intermediate phenotype, this case expands the phenotypic spectrum for COL12A1 disorders. So far, COL12A1 disorders seem to cover much of the severity range of an Ehlers-Danlos/Bethlem-like myopathy overlap syndrome associated with both connective tissue abnormalities and muscle weakness. Muscle Nerve55: 277-281, 2017 C1 [Punetha, Jaya; Kesari, Akanchha; Hoffman, Eric P.] Childrens Natl Med Ctr, Med Genet Res Ctr, Washington, DC 20010 USA. [Punetha, Jaya; Hoffman, Eric P.] George Washington Univ, Sch Med & Hlth Sci, Dept Integrat Syst Biol, Washington, DC 20052 USA. [Gos, Monika] Inst Mother & Child Hlth, Dept Med Genet, Warsaw, Poland. [Kaminska, Anna; Kostera-Pruszczyk, Anna] Med Univ Warsaw, Dept Neurol, Warsaw, Poland. [Hausmanowa-Petrusewicz, Irena; Jedrzejowska, Maria] Polish Acad Sci, Neuromuscular Unit, Mossakowski Med Res Ctr, Warsaw, Poland. [Hu, Ying; Zou, Yaqun; Bonnemann, Carsten G.] NINDS, NIH, Porter Neurosci Res Ctr, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Jedrzejowska, Maria] Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland. RP Jedrzejowska, M (reprint author), Polish Acad Sci, Neuromuscular Unit, Mossakowski Med Res Ctr, Warsaw, Poland.; Jedrzejowska, M (reprint author), Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland. EM mjedrzejowska@imdik.pan.pl FU US National Institutes of Health [3R01NS29525]; National Institutes of Health [5R01NS029525-18A1]; National Science Center, Poland [2015/17/B/NZ5/01368] FX We thank the family for participating in this study. Permission for reproduction of the images of the patient was given by the patient's mother. This work was supported by grants from the US National Institutes of Health 3R01NS29525 (E.P.H.), National Institutes of Health Bedside to Bench program 5R01NS029525-18A1 (C.B., E.P.H.), and National Science Center, Poland nr 2015/17/B/NZ5/01368. J.P. is a pre-doctoral student in the Molecular Medicine Program of the Institute for Biomedical Sciences at the George Washington University. This work is from a dissertation to be presented to the above program in partial fulfillment of the requirements for the Ph.D. degree. The authors have no conflict of interest to report. Dr. Hausmanowa-Petrusewicz is deceased. NR 15 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0148-639X EI 1097-4598 J9 MUSCLE NERVE JI Muscle Nerve PD FEB PY 2017 VL 55 IS 2 BP 277 EP 281 DI 10.1002/mus.25232 PG 5 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EM6LS UT WOS:000395424700021 PM 27348394 ER PT J AU Jakacki, RI Dombi, E Steinberg, SM Goldman, S Kieran, MW Ullrich, NJ Pollack, IF Goodwin, A Manley, PE Fangusaro, J Allen, R Widemann, BC AF Jakacki, Regina I. Dombi, Eva Steinberg, Seth M. Goldman, Stewart Kieran, Mark W. Ullrich, Nicole J. Pollack, Ian F. Goodwin, Anne Manley, Peter E. Fangusaro, Jason Allen, Rudy Widemann, Brigitte C. TI Phase II trial of pegylated interferon alfa-2b in young patients with neurofibromatosis type 1 and unresectable plexiform neurofibromas SO NEURO-ONCOLOGY LA English DT Article DE clinical trials; interferon; neurofibromatosis type 1; plexiform neurofibromas; pediatrics ID CLINICAL-TRIALS; ALPHA; SIROLIMUS; CHILDREN; NF1; THERAPY; ADULTS AB Background. There is no proven medical therapy for plexiform neurofibromas (PNs). We undertook a phase II trial of pegylated interferon (PI) to evaluate response and time to progression (TTP). Methods. PI was administered as a subcutaneous injection to patients with neurofibromatosis type 1. related PN, stratified by the presence of symptoms (asymptomatic: stratum 1, symptomatic: stratum 2) or documented imaging progression (stratum 3). Patients in strata 1 and 2 received PI for up to one year if stable, 2 years for those with clinical (stratum 2) or imaging response (>= 20% decrease in volume). Patients on stratum 3 continued PI until progression. PI was considered active in stratum 3 if TTP doubled compared with the placebo arm of a previous randomized trial using tipifarnib. Results. Enrolled were 82 evaluable patients (median age 10 y; range 1.6 to 21.4). Fatigue and/or worsening of behavioral issues were the most common toxicities requiring dose modification. Across all strata, imaging responses were seen in 4 patients (5%). Three of 26 symptomatic patients on stratum 2 met the criteria for clinical response without corresponding imaging changes. In stratum 3, median TTP was 29.4 months versus 11.8 for the placebo arm of the previous trial (P=. 031). The slope of tumor growth on PI slowed significantly compared with the slope before starting PI (P=. 044). Conclusions. In patients with active PN, PI results in more than doubling of the TTP compared with placebo. Imaging changes in symptomatic patients were not associated with changes in clinical status. C1 [Jakacki, Regina I.; Pollack, Ian F.] Childrens Hosp Pittsburgh, 4401 Penn Ave Pittsburgh, Penn Ave Pittsburgh, PA 4401 USA. [Dombi, Eva; Goodwin, Anne; Widemann, Brigitte C.] Natl Canc Inst, Biostatist & Data Management Sect SS, Pediat Oncol Branch, Ctr Canc Res, Bldg 10, Bethesda, MD 20892 USA. [Steinberg, Seth M.] Ann & Robert Lurie Childrens Hosp, 225 Chicago Ave, Chicago, IL 60611 USA. [Goldman, Stewart; Fangusaro, Jason; Allen, Rudy] Dana Farber Boston Childrens Canc & Blood Disorde, 450 Brookline Ave, Boston, MA 02215 USA. [Jakacki, Regina I.; Kieran, Mark W.; Ullrich, Nicole J.; Manley, Peter E.] AstraZeneca One Medimmune Way, Gaithersburg, MD USA. [Fangusaro, Jason] Childrens Hosp Chicago, Ann & Robert H Lurie, 225 E Chicago Ave.,Box 30, Chicago, IL USA. RP Jakacki, RI (reprint author), AstraZeneca One Medimmune Way, Gaithersburg, MD USA.; Fangusaro, J (reprint author), Childrens Hosp Chicago, Ann & Robert H Lurie, 225 E Chicago Ave.,Box 30, Chicago, IL USA. EM regina.jakacki@astrazeneca.com; jfangusaro@luriechildrens.org NR 28 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1522-8517 EI 1523-5866 J9 NEURO-ONCOLOGY JI Neuro-Oncology PD FEB PY 2017 VL 19 IS 2 BP 289 EP 297 DI 10.1093/neuonc/now158 PG 9 WC Oncology; Clinical Neurology SC Oncology; Neurosciences & Neurology GA EP3KF UT WOS:000397280500016 ER PT J AU Henson, MA Tucker, CJ Zhao, M Dudek, SM AF Henson, Maile A. Tucker, Charles J. Zhao, Meilan Dudek, Serena M. TI Long-term depression-associated signaling is required for an in vitro model of NMDA receptor-dependent synapse pruning SO NEUROBIOLOGY OF LEARNING AND MEMORY LA English DT Article DE Synapse; Development; Confocal microscopy; Neuron culture; Dendritic spine; Phosphatase; Caspase; Protein synthesis; Transcription ID OCULAR DOMINANCE PLASTICITY; CORTICAL PYRAMIDAL NEURONS; PROTEIN PHOSPHATASE 1; PRIMARY VISUAL-CORTEX; DENDRITIC SPINES; HIPPOCAMPAL-NEURONS; STRUCTURAL PLASTICITY; AMPA RECEPTORS; FUNCTIONAL PLASTICITY; CASPASE-3 ACTIVATION AB Activity-dependent pruning of synaptic contacts plays a critical role in shaping neuronal circuitry in response to the environment during postnatal brain development. Although there is compelling evidence that shrinkage of dendritic spines coincides with synaptic long-term depression (LTD), and that LTD is accompanied by synapse loss, whether NMDA receptor (NMDAR)-dependent LTD is a required step in the progression toward synapse pruning is still unknown. Using repeated applications of NMDA to induce LTD in dissociated rat neuronal cultures, we found that synapse density, as measured by colocalization of fluorescent markers for pre- and postsynaptic structures, was decreased irrespective of the presynaptic marker used, post-treatment recovery time, and the dendritic location of synapses. Consistent with previous studies, we found that synapse loss could occur without apparent net spine loss or cell death. Furthermore, synapse loss was unlikely to require direct contact with microglia, as the number of these cells was minimal in our culture preparations. Supporting a model by which NMDAR-LTD is required for synapse loss, the effect of NMDA on fluorescence colocalization was prevented by phosphatase and caspase inhibitors. In addition, gene transcription and protein translation also appeared to be required for loss of putative synapses. These data support the idea that NMDAR-dependent LTD is a required step in synapse pruning and contribute to our understanding of the basic mechanisms of this developmental process. Published by Elsevier Inc. This is an open access article under the CC BY license. C1 [Henson, Maile A.; Zhao, Meilan; Dudek, Serena M.] NIEHS, Neurobiol Lab, NIH, 111 TW Alexander Dr,Mail Drop F2-04, Res Triangle Pk, NC 27709 USA. [Tucker, Charles J.] NIEHS, Signal Transduct Lab, NIH, 111 TW Alexander Dr,Mail Drop F2-02, Res Triangle Pk, NC 27709 USA. RP Dudek, SM (reprint author), NIEHS, Neurobiol Lab, NIH, 111 TW Alexander Dr,Mail Drop F2-04, Res Triangle Pk, NC 27709 USA. EM maile.henson@duke.edu; dudek@niehs.nih.gov FU Intramural Research Program of the National Institute of Environmental Health Sciences, National Institutes of Health [ES 100221] FX This research was supported by the Intramural Research Program of the National Institute of Environmental Health Sciences, National Institutes of Health (ES 100221). We thank Grace Kissling for advice on the statistics, Ji-yeon Hwang for preparation of neuronal cultures, Christopher McPherson for microglia cultures, Thomas Helton for comments on the manuscript, and Negin Martin and the Viral Vector Core Laboratory for preparation of Sindbis virus. NR 156 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1074-7427 EI 1095-9564 J9 NEUROBIOL LEARN MEM JI Neurobiol. Learn. Mem. PD FEB PY 2017 VL 138 SI SI BP 39 EP 53 DI 10.1016/j.nlm.2016.10.013 PG 15 WC Behavioral Sciences; Neurosciences; Psychology; Psychology, Multidisciplinary SC Behavioral Sciences; Neurosciences & Neurology; Psychology GA EN4HU UT WOS:000395969400006 PM 27794462 ER PT J AU Roy, S Butman, JA Pham, DL AF Roy, Snehashis Butman, John A. Pham, Dzung L. CA Alzheimers Dis Neuroimaging Initia TI Robust skull stripping using multiple MR image contrasts insensitive to pathology SO NEUROIMAGE LA English DT Article DE Skull stripping; Brain extraction; Patches; Atlas; Segmentation; Non-local; Sparsity ID MAGNETIC-RESONANCE IMAGES; MS LESION SEGMENTATION; BRAIN EXTRACTION; AUTOMATIC SEGMENTATION; ALZHEIMERS-DISEASE; META-ALGORITHM; REGISTRATION; ACCURATE; VOLUME; REGULARIZATION AB Automatic skull-stripping or brain extraction of magnetic resonance (MR) images is often a fundamental step in many neuroimage processing pipelines. The accuracy of subsequent image processing relies on the accuracy of the skull-stripping. Although many automated stripping methods have been proposed in the past, it is still an active area of research particularly in the context of brain pathology. Most stripping methods are validated on T-1-w MR images of normal brains, especially because high resolution T-1-w sequences are widely acquired and ground truth manual brain mask segmentations are publicly available for normal brains. However, different MR acquisition protocols can provide complementary information about the brain tissues, which can be exploited for better distinction between brain, cerebrospinal fluid, and unwanted tissues such as skull, dura, marrow, or fat. This is especially true in the presence of pathology, where hemorrhages or other types of lesions can have similar intensities as skull in a T-1-w image. In this paper, we propose a sparse patch based Multi-cONtrast brain STRipping method (MONSTR),(2) where non-local patch information from one or more atlases, which contain multiple MR sequences and reference delineations of brain masks, are combined to generate a target brain mask. We compared MONSTR with four state-of-the-art, publicly available methods: BEaST, SPECTRE, ROBEX, and OptiBET. We evaluated the performance of these methods on 6 datasets consisting of both healthy subjects and patients with various pathologies. Three datasets (ADNI, MRBrainS, NAMIC) are publicly available, consisting of 44 healthy volunteers and 10 patients with schizophrenia. Other three in-house datasets, comprising 87 subjects in total, consisted of patients with mild to severe traumatic brain injury, brain tumors, and various movement disorders. A combination of T-1-w, T-2-w were used to skull-strip these datasets. We show significant improvement in stripping over the competing methods on both healthy and pathological brains. We also show that our multi-contrast framework is robust and maintains accurate performance across different types of acquisitions and scanners, even when using normal brains as atlases to strip pathological brains, demonstrating that our algorithm is applicable even when reference segmentations of pathological brains are not available to be used as atlases. C1 [Roy, Snehashis; Butman, John A.; Pham, Dzung L.] Henry M Jackson Fdn, Ctr Neurosci & Regenerat Med, Bethesda, MD 20817 USA. [Butman, John A.] NIH, Dept Diagnost Radiol, Bethesda, MD USA. RP Roy, S (reprint author), Henry M Jackson Fdn, Ctr Neurosci & Regenerat Med, Bethesda, MD 20817 USA. EM snehashis.roy@nih.gov FU Department of Defense in the Center for Neuroscience and Regenerative Medicine; intramural research program at NIH; NIH/NINDS [R01NS070906]; National MS Society [RG-1507-05243]; Alzheimer's Disease Neuroimaging Initiative (ADNI) (National Institutes of Health) [U01 AG024904]; DOD ADNI (Department of Defense) [W81XWH-12-2-0012]; National Institute on Aging, the National Institute of Biomedical Imaging and Bioengineering; AbbVie; Alzheimer's Association; Alzheimer's Drug Discovery Foundation; Araclon Biotech; BioClinica, Inc.; Biogen; Bristol-Myers Squibb Company; CereSpir, Inc.; Eisai Inc.; Elan Pharmaceuticals, Inc.; Eli Lilly and Company; EuroImmun; F. Hoffmann-La Roche Ltd. and its affiliated company Genentech, Inc.; Fujirebio; GE Healthcare; IXICO Ltd.; Janssen Alzheimer Immuno therapy Research & Development, LLC.; Johnson & Johnson Pharmaceutical Research & Development LLC.; Lumosity; Lundbeck; Merck Co., Inc.; Meso Scale Diagnostics, LLC.; NeuroRx Research; Neurotrack Technologies; Novartis Pharmaceuticals Corporation; Pfizer Inc.; Piramal Imaging; Servier; Takeda Pharmaceutical Company; Transition Therapeutics; Canadian Institutes of Health Research; Northern California Institute for Research and Education FX Support for this work included funding from the Department of Defense in the Center for Neuroscience and Regenerative Medicine and intramural research program at NIH. This work was also partially supported by grants NIH/NINDS R01NS070906 and National MS Society RG-1507-05243. This work utilized the computational resources of the NIH HPC Biowulf cluster. (http://hpc.nih.gov).; For the ADNI-29 dataset, data collection and sharing for this project was funded by the Alzheimer's Disease Neuroimaging Initiative (ADNI) (National Institutes of Health Grant U01 AG024904) and DOD ADNI (Department of Defense award number W81XWH-12-2-0012). ADNI is funded by the National Institute on Aging, the National Institute of Biomedical Imaging and Bioengineering, and through generous contributions from the following: AbbVie, Alzheimer's Association; Alzheimer's Drug Discovery Foundation; Araclon Biotech; BioClinica, Inc.; Biogen; Bristol-Myers Squibb Company; CereSpir, Inc.; Eisai Inc.; Elan Pharmaceuticals, Inc.; Eli Lilly and Company; EuroImmun; F. Hoffmann-La Roche Ltd. and its affiliated company Genentech, Inc.; Fujirebio; GE Healthcare; IXICO Ltd.; Janssen Alzheimer Immuno therapy Research & Development, LLC.; Johnson & Johnson Pharmaceutical Research & Development LLC.; Lumosity; Lundbeck; Merck & Co., Inc.; Meso Scale Diagnostics, LLC.; NeuroRx Research; Neurotrack Technologies; Novartis Pharmaceuticals Corporation; Pfizer Inc.; Piramal Imaging; Servier; Takeda Pharmaceutical Company; and Transition Therapeutics. The Canadian Institutes of Health Research is providing funds to support ADNI clinical sites in Canada. Private sector contributions are facilitated by the Foundation for the National Institutes of Health (www.fnih.org). The grantee organization is the Northern California Institute for Research and Education, and the study is coordinated by the Alzheimer's Disease Cooperative Study at the University of California, San Diego. ADNI data are disseminated by the Laboratory for Neuro Imaging at the University of Southern California. NR 69 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 1 PY 2017 VL 146 BP 132 EP 147 DI 10.1016/j.neuroimage.2016.11.017 PG 16 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZX UT WOS:000394560700013 PM 27864083 ER PT J AU Power, JD Plitt, M Laumann, TO Martin, A AF Power, Jonathan D. Plitt, Mark Laumann, Timothy O. Martin, Alex TI Sources and implications of whole-brain fMRI signals in humans SO NEUROIMAGE LA English DT Article ID RESTING-STATE FMRI; CEREBRAL-BLOOD-FLOW; FUNCTIONAL CONNECTIVITY MRI; AUTISM SPECTRUM DISORDERS; ANTI-CORRELATED NETWORKS; WAVE-FORM AMPLITUDE; GLOBAL SIGNAL; BOLD SIGNAL; RESPIRATORY VARIATIONS; EMPIRICAL ANALYSES AB Whole-brain fMRI signals are a subject of intense interest: variance in the global fMRI signal (the spatial mean of all signals in the brain) indexes subject arousal, and psychiatric conditions such as schizophrenia and autism have been characterized by differences in the global fMRI signal. Further, vigorous debates exist on whether global signals ought to be removed from fMRI data. However, surprisingly little research has focused on the empirical properties of whole-brain fMRI signals. Here we map the spatial and temporal properties of the global signal, individually, in 1000+ fMRI scans. Variance in the global fMRI signal is strongly linked to head motion, to hardware artifacts, and to respiratory patterns and their attendant physiologic changes. Many techniques used to prepare fMRI data for analysis fail to remove these uninteresting kinds of global signal fluctuations. Thus, many studies include, at the time of analysis, prominent global effects of yawns, breathing changes, and head motion, among other signals. Such artifacts will mimic dynamic neural activity and will spuriously alter signal covariance throughout the brain. Methods capable of isolating and removing global artifactual variance while preserving putative "neural" variance are needed; this paper adopts no position on the topic of global signal regression. C1 [Power, Jonathan D.; Plitt, Mark; Martin, Alex] NIMH, NIH, Bethesda, MD 20892 USA. [Laumann, Timothy O.] Washington Univ, Sch Med, Dept Neurol, St Louis, MO 63130 USA. RP Power, JD (reprint author), Bldg 10 Room 4C104,10 Ctr Dr, Bethesda, MD 20814 USA. EM jonathan.power@nih.gov; mplitt@stanford.edu; laumannt@wustl.edu; alexmartin@mail.nih.gov FU Intramural Research Program, National Institute of Mental Health/NIH [ZIAMH002920, NCT01031407] FX We thank Kevin Tran, David Godlove, and the Biowulf staff at the NIH for their computing support. We thank Steve Petersen and Brad Schlaggar for contributing the WU data for analysis. We thank Alan Anticevic and our Reviewers for suggestions that improved the manu-script. This work was supported by the Intramural Research Program, National Institute of Mental Health/NIH (ZIAMH002920; NCT01031407). NR 59 TC 3 Z9 3 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 1 PY 2017 VL 146 BP 609 EP 625 DI 10.1016/j.neuroimage.2016.09.038 PG 17 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZX UT WOS:000394560700055 PM 27751941 ER PT J AU Liu, PY Welch, BG Li, Y Gu, H King, D Yang, YH Pinho, M Lu, HZ AF Liu, Peiying Welch, Babu G. Li, Yang Gu, Hong King, Darlene Yang, Yihong Pinho, Marco Lu, Hanzhang TI Multiparametric imaging of brain hemodynamics and function using gas-inhalation MRI SO NEUROIMAGE LA English DT Article DE Cerebrovascular reactivity; Venous cerebral blood volume; Bolus arrival time; Resting-state functional connectivity; Hypercapnia; Hyperoxia ID CEREBRAL-BLOOD-FLOW; LEVEL-DEPENDENT MRI; CEREBROVASCULAR REACTIVITY; PERFUSION-CT; QUANTITATIVE MEASUREMENT; OCCLUSIVE DISEASE; MOYAMOYA-DISEASE; CARBON-DIOXIDE; ACUTE STROKE; BOLD-MRI AB Diagnosis and treatment monitoring of cerebrovascular diseases routinely require hemodynamic imaging of the brain. Current methods either only provide part of the desired information or require the injection of multiple exogenous agents. In this study, we developed a multiparametric imaging scheme for the imaging of brain hemodynamics and function using gas-inhalation MM. The proposed technique uses a single MRI scan to provide simultaneous measurements of baseline venous cerebral blood volume (vCBV), cerebrovascular reactivity (CVR), bolus arrival time (BAT), and resting-state functional connectivity (fcMRI). This was achieved with a novel, concomitant O-2 and CO2 gas inhalation paradigm, rapid MRI image acquisition with a 9.3 min BOLD sequence, and an advanced algorithm to extract multiple hemodynamic information from the same dataset. In healthy subjects, CVR and vCBV values were 0.23 0.03%/mmHg and 0.0056 0.0006%/mmHg, respectively, with a strong correlation (r=0.96 for CVR and r=0.91 for vCBV) with more conventional, separate acquisitions that take twice the scan time. In patients with Moyamoya syndrome, CVR in the stenosis-affected flow territories (typically anterior-cerebral-artery, ACA, and middle-cerebral-artery, MCA, territories) was significantly lower than that in posterior-cerebral-artery (PCA), which typically has minimal stenosis, flow territories (0.12 +/- 0.06%/mmHg vs. 0.21 +/- 0.05%/mmHg, p < 0.001). BAT of the gas bolus was significantly longer (p=0.008) in ACA/MCA territories, compared to PCA, and the maps were consistent with the conventional contrast-enhanced CT perfusion method. FcMRI networks were robustly identified from the gas-inhalation MRI data after factoring out the influence of CO2 and O-2 on the signal time course. The spatial correspondence between the gas-data-derived fcMRI maps and those using a separate, conventional fcMRI scan was excellent, showing a spatial correlation of 0.58 +/- 0.17 and 0.64 +/- 0.20 for default mode network and primary visual network, respectively. These findings suggest that advanced gas-inhalation MRI provides reliable measurements of multiple hemodynamic parameters within a clinically acceptable imaging time and is suitable for patient examinations. C1 [Liu, Peiying; Li, Yang; Lu, Hanzhang] Johns Hopkins Univ, Dept Radiol, Sch Med, 600 N Wolfe St,Pk 322, Baltimore, MD 21287 USA. [Welch, Babu G.; King, Darlene] UT Southwestern Med Ctr, Dept Neurol Surg, Dallas, TX 75390 USA. [Welch, Babu G.; Pinho, Marco] UT Southwestern Med Ctr, Dept Radiol, Dallas, TX 75390 USA. [Li, Yang] UT Southwestern Med Ctr, Biomed Engn Grad Program, Dallas, TX 75390 USA. [Gu, Hong; Yang, Yihong] NIDA, Neuroimaging Res Branch, NIH, Baltimore, MD 21224 USA. RP Lu, HZ (reprint author), Johns Hopkins Univ, Dept Radiol, Sch Med, 600 N Wolfe St,Pk 322, Baltimore, MD 21287 USA. EM hanzhang.lu@jhu.edu RI Liu, Peiying/D-7512-2017 OI Liu, Peiying/0000-0003-0830-5960 FU NIH [R01 AG042753, R01 MH084021, R21 NS095342, R21 NS085634] FX This study was supported in part by NIH R01 AG042753 (to H.L.), NIH R01 MH084021 (to H.L.), NIH R21 NS095342 (to H.L.), and NIH R21 NS085634 (to P.L.). NR 59 TC 0 Z9 0 U1 0 U2 0 PU ACADEMIC PRESS INC ELSEVIER SCIENCE PI SAN DIEGO PA 525 B ST, STE 1900, SAN DIEGO, CA 92101-4495 USA SN 1053-8119 EI 1095-9572 J9 NEUROIMAGE JI Neuroimage PD FEB 1 PY 2017 VL 146 BP 715 EP 723 DI 10.1016/j.neuroimage.2016.09.063 PG 9 WC Neurosciences; Neuroimaging; Radiology, Nuclear Medicine & Medical Imaging SC Neurosciences & Neurology; Radiology, Nuclear Medicine & Medical Imaging GA EL3ZX UT WOS:000394560700063 PM 27693197 ER PT J AU Mamais, A Manzoni, C Lewis, P Bandopad-hyay, R AF Mamais, A. Manzoni, C. Lewis, P. Bandopad-hyay, R. TI Autophagy markers and LRRK2 G2019S-Parkinson's disease SO NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY LA English DT Meeting Abstract CT 118th Meeting of the British-Neuropathological-Society CY MAR 01-03, 2017 CL Royal Coll Phys, London, ENGLAND SP British Neuropathol Soc HO Royal Coll Phys C1 [Mamais, A.; Bandopad-hyay, R.] UCL Inst Neurol, Reta Lila Weston Inst, London WC1N 1PJ, England. [Mamais, A.; Bandopad-hyay, R.] UCL Inst Neurol, Dept Mol Neurosci, London WC1N 1PJ, England. [Mamais, A.] NIH, NIA, Neurogenet Lab, Cell Biol & Gene Express Sect, Bethesda, MD 20892 USA. [Manzoni, C.; Lewis, P.] Univ Reading, Sch Pharm, Reading, Berks, England. EM rina.bandopadhyay@ucl.ac.uk NR 4 TC 0 Z9 0 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0305-1846 EI 1365-2990 J9 NEUROPATH APPL NEURO JI Neuropathol. Appl. Neurobiol. PD FEB PY 2017 VL 43 SU 1 MA P03 BP 33 EP 33 PG 1 WC Clinical Neurology; Neurosciences; Pathology SC Neurosciences & Neurology; Pathology GA EM0MN UT WOS:000395012500039 ER PT J AU Sarveazad, A Babahajian, A Bakhtiari, M Soleimani, M Behnam, B Yari, A Akbari, A Yousefifard, M Janzadeh, A Amini, N Agah, S Fallah, A Joghataei, MT AF Sarveazad, Arash Babahajian, Asrin Bakhtiari, Mehrdad Soleimani, Mansoureh Behnam, Babak Yari, Abazar Akbari, Abolfazl Yousefifard, Mahmoud Janzadeh, Atousa Amini, Naser Agah, Shahram Fallah, Ali Joghataei, Mohammad Taghi TI The combined application of human adipose derived stem cells and Chondroitinase ABC in treatment of a spinal cord injury model SO NEUROPEPTIDES LA English DT Article DE Spinal cord injuries; Stem cells; Chondroitinase ABC; Synergic effect; Animal model ID PROMOTE FUNCTIONAL RECOVERY; OLFACTORY ENSHEATHING GLIA; STROMAL CELLS; BONE-MARROW; SULFATE PROTEOGLYCAN; CEREBROSPINAL-FLUID; NEUROSPHERE CELLS; PERINEURONAL NET; AXONAL GROWTH; SCHWANN-CELLS AB Background: Although stem cell therapy has become a major focus as a new option for management of spinal cord injury (SCI), its effectiveness should be promoted. In this study, we investigated the effects of co-administrating human adipose-derived stem cells (hADSCs) and Chondroitinase ABC (ChABC) in a rat model of spinal cord injury. Material and methods: hADSCs derived from superficial layer of abdominal adipose tissue were used to treat a contusion-induced SCI. Animals were randomly allocated to five equal groups including sham (only laminectomy), SCI (SCI + vehicle injection), hADSCs (1 x 10(6) hADSCs/10 mu l intra-spinal injection), ChABC (10 I of 100 U/ml ChABC intra-spinal injection injection), and hADSCs + ChABC. Basso, Beattie and Bresnahan tests were used to evaluate locomotor function. 8 weeks after treatment, cavity size, myelination, cell differentiation (neuron and astrocyte), and chondroitin sulfate amount were analyzed. Results: hADSC transplanted animals, ChABC injected animals (P < 0.001), and hADSC + ChABC treated rats (P < 0.001) displayed significant motor improvement compared to SCI group. Combination therapy of hADSCs and ChABC led to greater locomotor recovery compared to using hADSCs (P < 0.001) or ChABC (P < 0.01) alone. Spinal cords in the combined and single therapy groups had cavities filled with myelinated areas and less chondroitin sulfate content in comparison with the control group (P < 0.001). hADSCs expressed GFAP, B III tubulin and Map2. Conclusion: Combination therapy with ChABC and hADSCs exhibits more significant functional recovery than single therapy using either. This result may be applicable in selection of the best therapeutic strategy for SCI. (C) 2016 Elsevier Ltd. All rights reserved. C1 [Sarveazad, Arash; Akbari, Abolfazl; Agah, Shahram] Iran Univ Med Sci, Colorectal Res Ctr, Tehran, Iran. [Sarveazad, Arash; Soleimani, Mansoureh; Joghataei, Mohammad Taghi] Iran Univ Med Sci, Fac Med, Cellular & Mol Res Ctr, Tehran, Iran. [Babahajian, Asrin] Kurdistan Univ Med Sci, Liver & Digest Res Ctr, Sanandaj, Iran. [Bakhtiari, Mehrdad; Soleimani, Mansoureh; Joghataei, Mohammad Taghi] Iran Univ Med Sci, Fac Med, Dept Anat, Tehran, Iran. [Behnam, Babak] IUMS, Dept Med Genet & Mol Biol, Tehran, Iran. [Behnam, Babak] NHGRI, Undiagnosed Dis Program Common Fund, NIH, Bethesda, MD 20892 USA. [Yari, Abazar] Alborz Univ Med Sci, Fac Med, Dept Anat, Karaj, Iran. [Yousefifard, Mahmoud; Janzadeh, Atousa] Iran Univ Med Sci, Fac Med, Physiol Res Ctr, Tehran, Iran. [Yousefifard, Mahmoud; Janzadeh, Atousa] Iran Univ Med Sci, Fac Med, Dept Physiol, Tehran, Iran. [Amini, Naser] Univ Tehran Med Sci, Sch Adv Technol Med, Dept Neurosci, Tehran, Iran. [Fallah, Ali] Mede Bioecon Co, Tehran, Iran. [Behnam, Babak] NHGRI, NIH, Undiagnosed Dis Program, Off Clin Director, Bethesda, MD 20892 USA. RP Joghataei, MT (reprint author), Iran Univ Med Sci, Fac Med, Cellular & Mol Res Ctr, Tehran, Iran. EM Mt.joghataei@yahoo.com FU Iran University of Medical Sciences; Cellular and Molecular Research Center of Iran University of Medical Sciences [90023013037] FX This study was part of a student thesis. The present study was supported by a grant from Iran University of Medical Sciences. The cell preparation was done at Cellular and Molecular Research Center of Iran University of Medical Sciences (Grant number: 90023013037). The tissue preparation and staining processes were performed at the Department of Medical Basic Sciences so we express our deepest thanks to Dr. Behnam Jameie. NR 65 TC 0 Z9 0 U1 0 U2 0 PU CHURCHILL LIVINGSTONE PI EDINBURGH PA JOURNAL PRODUCTION DEPT, ROBERT STEVENSON HOUSE, 1-3 BAXTERS PLACE, LEITH WALK, EDINBURGH EH1 3AF, MIDLOTHIAN, SCOTLAND SN 0143-4179 EI 1532-2785 J9 NEUROPEPTIDES JI Neuropeptides PD FEB PY 2017 VL 61 BP 39 EP 47 DI 10.1016/j.npep.2016.07.004 PG 9 WC Endocrinology & Metabolism; Neurosciences SC Endocrinology & Metabolism; Neurosciences & Neurology GA EK8SD UT WOS:000394193700005 PM 27484347 ER PT J AU Reinhardt, M Piaggi, P DeMers, B Trinidad, C Krakoff, J AF Reinhardt, Martin Piaggi, Paolo DeMers, Barbara Trinidad, Cathy Krakoff, Jonathan TI Cross Calibration of Two Dual-Energy X-Ray Densitometers and Comparison of Visceral Adipose Tissue Measurements by iDXA and MRI SO OBESITY LA English DT Article ID ABDOMINAL OBESITY; BODY-COMPOSITION; METABOLIC RISK; FAT; ABSORPTIOMETRY; QUANTIFICATION; ADULTS; BEAM AB Objective: Compare total percentage body fat ( pfat) measurements between two densitometers and visceral adipose tissue ( VAT) estimates between iDXA and magnetic resonance imaging ( MRI) from the same defined abdominal region. Methods: Participants [ N = 93 ( 50 men, 43 women), BMI: 19.1-57.6 kg/m(2)] underwent dual-energy X-ray absorptiometry ( DXA) scans on two DXA systems ( GE Healthcare Lunar iDXA and Lunar Prodigy), and a subgroup underwent abdominal MRI imaging for quantification of VAT. Results: Pfat correlated strongly between both machines ( r(2) = 0.98, P<1.0E-14). Bland-Altman plots showed a bias with higher measured pfat on iDXA versus Prodigy in leaner subjects and the opposite in more overweight subjects. The R-2 for regression of MRI on iDXA VAT values was 0.948. Bland-Altman bias was 1104.1 cm(3) with 95% limits of agreement of 2681.9 to 890.0 cm(3). For both DXA methods, and iDXA versus MRI determined VAT, comparison using rank regression demonstrated no order bias. Conclusions: The total pfat measured by both machines was strongly and linearly associated, allowing for conversion ( equations are provided) of iDXA for assessment of longitudinal body fat changes. Despite a bias of abdominal VAT measures of iDXA versus MRI, the high rank correlation makes iDXA a good alternative to the more complicated and time-consuming MRI for use in larger cross-sectional and longitudinal studies. C1 [Reinhardt, Martin; Piaggi, Paolo; DeMers, Barbara; Trinidad, Cathy; Krakoff, Jonathan] NIDDK, Obes & Diabet Clin Res Sect, Phoenix Epidemiol & Clin Res Branch, NIH, Phoenix, AZ USA. [Reinhardt, Martin] Univ Leipzig, Dept Diagnost & Intervent Radiol, Leipzig, Germany. RP Reinhardt, M (reprint author), NIDDK, Obes & Diabet Clin Res Sect, Phoenix Epidemiol & Clin Res Branch, NIH, Phoenix, AZ USA.; Reinhardt, M (reprint author), Univ Leipzig, Dept Diagnost & Intervent Radiol, Leipzig, Germany. EM martin.reinhardt@nih.gov FU Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases FX This research was supported by the Intramural Research Program of the National Institutes of Health, National Institute of Diabetes and Digestive and Kidney Diseases. NR 17 TC 0 Z9 0 U1 2 U2 2 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1930-7381 EI 1930-739X J9 OBESITY JI Obesity PD FEB PY 2017 VL 25 IS 2 BP 332 EP 337 DI 10.1002/oby.21722 PG 6 WC Endocrinology & Metabolism; Nutrition & Dietetics SC Endocrinology & Metabolism; Nutrition & Dietetics GA EL9WF UT WOS:000394970100014 PM 28000375 ER PT J AU Peters, TL Kamel, F Lundholm, C Feychting, M Weibull, CE Sandler, DP Wiebert, P Sparen, P Ye, WM Fang, F AF Peters, Tracy L. Kamel, Freya Lundholm, Cecilia Feychting, Maria Weibull, Caroline E. Sandler, Dale P. Wiebert, Pernilla Sparen, Par Ye, Weimin Fang, Fang TI Occupational exposures and the risk of amyotrophic lateral sclerosis SO OCCUPATIONAL AND ENVIRONMENTAL MEDICINE LA English DT Article ID MOTOR-NEURON DISEASE; FORMALDEHYDE EXPOSURE; CANCER; SWEDEN; LEAD; ALS; METAANALYSIS; ASSOCIATION; MORTALITY; SOLVENTS AB Objectives To examine the associations of specific occupations and occupational exposures with the risk of amyotrophic lateral sclerosis (ALS) in the Swedish population. Methods A nested case-control study was conducted in Sweden. Patients with ALS diagnosed during 1991-2010 (n=5020) were identified from the National Patient Register and 5 controls per case (n=25 100) were randomly selected from the general Swedish population, individually matched to cases by birth year and sex. Occupational history was obtained from the Swedish censuses in 1970, 1980 and 1990. The Nordic Occupational Cancer Study Job Exposure Matrix was used to identify exposures related to individual occupations. Conditional logistic regression was used to estimate ORs and their 95% CIs. Results Higher risk of ALS was associated with precision-tool manufacturing (OR 1.68, 95% CI 1.11 to 2.52) and glass, pottery and tile work (OR 1.76, 95% CI 1.03 to 3.00), whereas lower risk was associated with textile work (OR 0.44, 95% CI 0.21 to 0.91). None of the examined occupational exposures were associated with ALS risk overall. However, among individuals younger than 65 years of age, an association with a higher risk of ALS was found for formaldehyde (OR 1.29, 95% CI 1.00 to 1.65), and an association with a lower risk of ALS was found for methylene chloride (OR 0.49, 95% CI 0.26 to 0.93). Conclusions We identified several occupations and occupational exposures that may be associated with the risk of ALS in Sweden. Occupational history obtained from censuses every 10 years remains a limitation of the study. C1 [Peters, Tracy L.; Lundholm, Cecilia; Weibull, Caroline E.; Sparen, Par; Ye, Weimin; Fang, Fang] Karolinska Inst, Dept Med Epidemiol & Biostat, POB 281, S-17177 Stockholm, Sweden. [Peters, Tracy L.; Kamel, Freya; Sandler, Dale P.] NIEHS, Epidemiol Branch, Res Triangle Pk, NC 27709 USA. [Feychting, Maria] Karolinska Inst, Inst Environm Med, Unit Epidemiol, Stockholm, Sweden. [Wiebert, Pernilla] Karolinska Inst, Inst Environm Med, Unit Occupat Med, Stockholm, Sweden. RP Peters, TL (reprint author), Karolinska Inst, Dept Med Epidemiol & Biostat, POB 281, S-17177 Stockholm, Sweden. EM tracy.peters@gmail.com FU Swedish Research Council [80748301, 2015-03170]; FAS [2011-0172]; EU Joint Programme-Neurodegenerative Disease Research (JPND); Swedish Society for Medical Research (SSMF); Karolinska Institutet; Intramural Research Program of The National Institute of Environmental Health Sciences, National Institutes of Health [Z01-ES-049005] FX This study was supported by the Swedish Research Council (SIMSAM grant No. 80748301 and Grant No. 2015-03170), FAS (grant No. 2011-0172), the EU Joint Programme-Neurodegenerative Disease Research (JPND; http://www.jpnd.eu), the Swedish Society for Medical Research (SSMF), the Karolinska Institutet, and the Intramural Research Program of The National Institute of Environmental Health Sciences, National Institutes of Health (Z01-ES-049005). NR 27 TC 1 Z9 1 U1 2 U2 2 PU BMJ PUBLISHING GROUP PI LONDON PA BRITISH MED ASSOC HOUSE, TAVISTOCK SQUARE, LONDON WC1H 9JR, ENGLAND SN 1351-0711 EI 1470-7926 J9 OCCUP ENVIRON MED JI Occup. Environ. Med. PD FEB PY 2017 VL 74 IS 2 BP 87 EP 92 DI 10.1136/oemed-2016-103700 PG 6 WC Public, Environmental & Occupational Health SC Public, Environmental & Occupational Health GA EL3KB UT WOS:000394516900003 PM 27418175 ER PT J AU Carlson, VR Boden, BP Shen, A Jackson, JN Alter, KE Sheehan, FT AF Carlson, Victor R. Boden, Barry P. Shen, Aricia Jackson, Jennifer N. Alter, Katharine E. Sheehan, Frances T. TI Patellar Maltracking Persists in Adolescent Females With Patellofemoral Pain A Longitudinal Study SO ORTHOPAEDIC JOURNAL OF SPORTS MEDICINE LA English DT Article DE knee; MRI; puberty; kinematics ID ANTERIOR KNEE PAIN; NATURAL-HISTORY; INJURIES; MALALIGNMENT; KINEMATICS; POPULATION; PREVALENCE; PREVENTION; PARAMETERS; ALIGNMENT AB Background: Patellofemoral pain is one of the most common conditions seen in sports medicine practices, particularly among adolescent females. However, the natural history of the underlying pathology in patellofemoral pain during puberty remains poorly understood. Purpose: The purpose of this longitudinal study is to assess changes in patellar maltracking patterns in subjects with patellofemoral pain as they mature from mid-to late adolescence. Study Design: Cohort study; Level of evidence, 3. Methods: Three-dimensional patellofemoral kinematic data were acquired during active knee extension-flexion using dynamic magnetic resonance imaging in 6 girls (10 knees; mean age, 14.0 years) with clinically diagnosed patellofemoral pain. The subjects then returned as late adolescents (mean age, 18.5 years) for follow-up scanning. Three-dimensional patellofemoral kinematic parameters were evaluated across the range of motion, but comparison between time points was restricted to 10 degrees of flexion. Participation in impact and nonimpact physical activities, pain score based on the visual analog scale, and the anterior knee pain score were also compared across initial and follow-up visits. Results: All subjects reported improved patellofemoral pain symptoms at follow-up, and one subject reported complete resolution. However, relative to the initial visit, no differences were found in patellar maltracking. There was a decrease in hours engaged in impact physical activities for all subjects at follow-up. Conclusion: This study provides insight into the natural history of patellofemoral pain in adolescent females. The relatively unchanged patellofemoral maltracking across subjects suggests that potential anatomic and kinematic abnormalities contributing to patellofemoral pain during mid-adolescence persist during skeletal maturation. Symptom improvement for these subjects did not result from a change in patellofemoral tracking, but rather from other causes. C1 [Carlson, Victor R.; Boden, Barry P.; Shen, Aricia; Jackson, Jennifer N.; Alter, Katharine E.; Sheehan, Frances T.] NIH, Funct & Appl Biomech Sect, Dept Rehabil Med, Bldg 10, Bethesda, MD 20892 USA. RP Boden, BP (reprint author), Orthopaed Ctr, 9420 Key West Ave, Rockville, MD 20850 USA. EM bboden@starpower.net FU Intramural Research Program of the National Institutes of Health (NIH), Clinical Center, Functional and Applied Biomechanics Section FX This research was supported by the Intramural Research Program of the National Institutes of Health (NIH), Clinical Center, Functional and Applied Biomechanics Section. NR 32 TC 0 Z9 0 U1 0 U2 0 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 2325-9671 J9 ORTHOP J SPORTS MED JI Orthop. J. Sports Med. PD FEB PY 2017 VL 5 IS 2 AR 2325967116686774 DI 10.1177/2325967116686774 PG 7 WC Sport Sciences SC Sport Sciences GA EL5QY UT WOS:000394677100012 PM 28210658 ER PT J AU Kamat, AD Van Dyke, AL AF Kamat, Aarti D. Van Dyke, Alison L. TI Use of Electronic Nicotine Delivery Systems Among Adolescents: Status of the Evidence and Public Health Recommendations SO PEDIATRIC ANNALS LA English DT Article ID HIGH-SCHOOL-STUDENTS; E-CIGARETTE USE; YOUTH TOBACCO SURVEY; UNITED-STATES; POLICY STATEMENT; ANIMAL-MODEL; SMOKING; EXPOSURE; ASSOCIATION; MIDDLE AB Although the prevalence of tobacco smoking has been declining in recent years, the use of electronic nicotine delivery systems (ENDS) such as of electronic cigarettes, vaporizers, and hookahs has been steadily rising, especially among adolescents. ENDS are not only advertised to children, but their sale via the Internet has made them easily accessible to youth. In general, children perceive ENDS as safe, or at least safer than smoking traditional combustible tobacco products; however, exposure to nicotine may have deleterious effects on the developing brain. Concern also persists that ENDS may be a "starter" drug that may lead to further tobacco, drug, and/or alcohol use. In contrast to this precautionary stance that is associated with calls for legislative oversight of ENDS marketing and sales, harm reductionists claim that the risks posed by ENDS are minor in comparison with those of combustible tobacco products and that ENDS may be used as a means of nicotine replacement for smoking cessation, despite no concrete evidence to support this assertion. Many medical and health-related organizations have produced position statements concerning ENDS use, including among adolescents. This article summarizes the advantages and disadvantages of using ENDS espoused in these position statements, especially as they relate to use among adolescents. C1 [Kamat, Aarti D.] Wayne State Univ Sch Med, Wayne, NJ USA. [Van Dyke, Alison L.] Natl Inst Hlth, Natl Canc Inst, Div Canc Epidemiol & Genet, Infect & Immunoepidemiol Branch, Bethesda, MD USA. RP Kamat, AD (reprint author), 61 Lochmoor Blvd, Detroit, MI 48236 USA. EM akamat@med.wayne.edu NR 61 TC 0 Z9 0 U1 0 U2 0 PU SLACK INC PI THOROFARE PA 6900 GROVE RD, THOROFARE, NJ 08086 USA SN 0090-4481 EI 1938-2359 J9 PEDIATR ANN JI Pediatr. Ann. PD FEB PY 2017 VL 46 IS 2 SI SI BP E69 EP + DI 10.3928/19382359-20170111-01 PG 9 WC Pediatrics SC Pediatrics GA EP4CN UT WOS:000397328300010 PM 28192582 ER PT J AU Osorio, LE Boechat, MI Mirochnick, M Kumwenda, N Kreitchmann, R Emel, L Pinto, J Joao, E Santos, B Swenson, M George, K Sato, P Mofenson, L Nielsen-Saines, K AF Osorio, Luiz Eduardo Boechat, Maria Ines Mirochnick, Mark Kumwenda, Newton Kreitchmann, Regis Emel, Lynda Pinto, Jorge Joao, Esau Santos, Breno Swenson, Molly George, Kathleen Sato, Paul Mofenson, Lynne Nielsen-Saines, Karin CA HIV Prevention Trials Network HPTN TI Bone Age and Mineral Density Assessments Using Plain Roentgenograms in Tenofovir-exposed Infants in Malawi and Brazil Enrolled in HIV Prevention Trials Network 057 SO PEDIATRIC INFECTIOUS DISEASE JOURNAL LA English DT Article DE tenofovir; bone; HIV-exposed infants; HIV Prevention Trials Network 057 ID MONKEYS MACACA-MULATTA; TO-CHILD TRANSMISSION; CHRONIC HEPATITIS-B; DISOPROXIL FUMARATE; RHESUS MACAQUES; HIV-1-INFECTED PATIENTS; ABACAVIR-LAMIVUDINE; UNINFECTED INFANTS; INFECTED CHILDREN; GROWTH OUTCOMES AB Background: Tenofovir disoproxil fumarate (TDF) use during pregnancy has been increasing, and studies linking bone toxicity with exposure to TDF have raised concern for its use in infants. Methods: Hand/wrist and spine radiographs were obtained at 3 days and 12 weeks of age in infants born to HIV-infected pregnant women enrolled in the HIV Prevention Trials Network 057 pharmacokinetic study of TDF conducted in Malawi and Brazil assigned to 3 TDF dosing cohorts. In cohort 1, mothers received 600 mg of TDF during labor. In cohort 2, infants received 4 mg/kg dose on days 0, 3 and 5. In cohort 3, a 900 mg maternal dose was given during labor, followed by a 6 mg/kg infant dose on days 0, 3 and 5 of life. Results: Across all 3 cohorts, 89 infants had radiographs performed at either time point, and 85 had radiographs performed at both time points. Metaphyseal lucency was present in 1 case in Brazil and 2 in Malawi. Fifteen percent of infants from Brazil and 9% of infants from Malawi presented bone age discrepancies. No other abnormalities were identified in Brazil, whereas in Malawi, there were 7 more cases of wrist osteopenia, 2 of spine osteopenia and 3 other abnormalities. Conclusion: Bone abnormalities were not uncommon in the overall cohort of HIV-exposed infants. Because of very limited study drug exposure at the time of birth, it is unlikely that TDF was associated with these findings. Untreated maternal HIV disease and/or maternal nutritional status could potentially be related to fetal bone development. This association should be explored in future cohort studies. C1 [Osorio, Luiz Eduardo; Boechat, Maria Ines; Nielsen-Saines, Karin] David Geffen UCLA Sch Med, Dept Pediat, Los Angeles, CA USA. [Mirochnick, Mark] Boston Univ, Sch Med, Dept Pediat, Boston, MA 02118 USA. [Kumwenda, Newton] Malawi Coll Med, Dept Med, Blantyre, Malawi. [Kreitchmann, Regis] Santa Casa Misericordia, Dept Obstet & Gynecol, Porto Alegre, RS, Brazil. [Emel, Lynda; Swenson, Molly] SCHARP Fred Hutchinson Canc Res Ctr, Seattle, WA USA. [Pinto, Jorge] Univ Fed Minas Gerais, Dept Pediat, Belo Horizonte, MG, Brazil. [Joao, Esau] Hosp Fed Servidores Estado, Dept Infect Dis, Rio De Janeiro, Brazil. [Santos, Breno] Hosp Conceicao, Dept Infect Dis, Porto Alegre, RS, Brazil. [George, Kathleen] Family Hlth Int, Durham, NC USA. [Sato, Paul] NIAID, Bethesda, MD 20892 USA. [Mofenson, Lynne] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, NIH, Bethesda, MD USA. Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Div Infect Dis, Los Angeles, CA 90095 USA. RP Nielsen-Saines, K (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Dept Pediat, Div Infect Dis, MDCC 22-442 10833 Le Conte Ave, Los Angeles, CA 90095 USA. EM knielsen@mednet.ucla.edu FU US National Institutes of Health (NIH), through the HPTN [057]; National Institute of Allergy and Infectious Diseases (NIAID) [U01AI46749]; Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD); National Institute of Drug Abuse (NIDA); National Institute of Mental Health (NIMH); NIAID [U01AI068632]; NICHD; NIMH FX HIV Prevention Trials Network (HPTN) 057 (ClinicalTrials.gov Identifier: NCT0012047) was funded by the US National Institutes of Health (NIH), initially through the HPTN and later through the International Maternal Pediatric Adolescent AIDS Clinical Trials (IMPAACT) group. The HPTN (U01AI46749) has been funded by the National Institute of Allergy and Infectious Diseases (NIAID), the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institute of Drug Abuse (NIDA) and National Institute of Mental Health (NIMH). The IMPAACT group (U01AI068632) has been funded by NIAID, NICHD and NIMH. The study products were provided free of charge by Gilead Sciences, Inc. NR 57 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0891-3668 EI 1532-0987 J9 PEDIATR INFECT DIS J JI Pediatr. Infect. Dis. J. PD FEB PY 2017 VL 36 IS 2 BP 184 EP 188 DI 10.1097/INF.0000000000001386 PG 5 WC Immunology; Infectious Diseases; Pediatrics SC Immunology; Infectious Diseases; Pediatrics GA EL1AI UT WOS:000394352500014 PM 27798550 ER PT J AU Jacobson, DL Patel, K Williams, PL Geffner, ME Siberry, GK DiMeglio, LA Crain, MJ Mirza, A Chen, JS McFarland, E Kacanek, D Silio, M Rich, K Borkowsky, W Van Dyke, RB Miller, TL AF Jacobson, Denise L. Patel, Kunjal Williams, Paige L. Geffner, Mitchell E. Siberry, George K. DiMeglio, Linda A. Crain, Marilyn J. Mirza, Ayesha Chen, Janet S. McFarland, Elizabeth Kacanek, Deborah Silio, Margarita Rich, Kenneth Borkowsky, William Van Dyke, Russell B. Miller, Tracie L. CA Pediat HIV AIDS Cohort Study TI Growth at 2 Years of Age in HIV-exposed Uninfected Children in the United States by Trimester of Maternal Antiretroviral Initiation SO PEDIATRIC INFECTIOUS DISEASE JOURNAL LA English DT Article DE maternal antiretroviral therapy; HIV-exposed uninfected children; early childhood growth; tenofovir; obesity; trimester of pregnancy ID TENOFOVIR DISOPROXIL FUMARATE; CORONARY-HEART-DISEASE; INFANT GROWTH; INFECTED MOTHERS; P-GLYCOPROTEIN; HUMAN PLACENTA; PREGNANCY; THERAPY; OUTCOMES; TRANSPORTERS AB Background: Abnormal childhood growth may affect future health. Maternal tenofovir (TFV) use was associated with lower body length and head circumference at 1 year of age in HIV-exposed uninfected (HEU) US children. Methods: We studied 509 HEU children in the US-based Surveillance Monitoring of Antiretroviral Therapy Toxicities cohort whose HIV-infected mothers were not using antiretrovirals at the last menstrual period and began combination antiretroviral therapy (cART) in pregnancy (cART initiators). We examined adjusted associations between antiretrovirals and Centers for Disease Control 2000 growth Z scores at 2 years of age within trimester of cART initiation: weight (weight Z score), length (length Z score), weightfor- length [ weight-for-length Z score (WFLZ)], triceps skinfold Z score (TSFZ) and head circumference (head circumference Z score). Results: Mothers mean age was 28.6 years; 57% were black non-Hispanic and 19% delivered at < 37 weeks gestation. At 2 years, mean weight Z score, length Z score, WFLZ and head circumference Z score were above average (P < 0.05), whereas TSFZ (P = 0.57) did not differ from average. WFLZ was > 1.64 standard deviation (SD) (> 95th percentile) in 13%. Among children of first-trimester cART initiators, TFV+ emtricitabine-exposed children had slightly higher mean WFLZ (0.45 SD; 95% confidence interval: -0.10 to 1.00) and lower TSFZ (-0.55 SD; 95% confidence interval: -1.07 to -0.02) compared with zidovudine+ lamivudine-exposed children. TSFZ was lower in those exposed to boosted protease inhibitors. In contrast, growth in children of second trimester cART initiators did not differ by antiretroviral exposures. Conclusion: Growth was above average in HEU; 13% were obese. Maternal TFV use was not associated with lower length or head circumference at 2 years of age, as hypothesized, but may be related to greater weight among those exposed to cART early in pregnancy. C1 [Jacobson, Denise L.; Patel, Kunjal; Williams, Paige L.; Kacanek, Deborah] Harvard TH Chan Sch Publ Hlth, Dept Pediat, Ctr Biostat AIDS Res, Boston, MA USA. [Patel, Kunjal; Williams, Paige L.] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA. [Geffner, Mitchell E.] USC, Keck Sch Med, Dept Pediat, Saban Res Inst,Childrens Hosp Los Angeles, Los Angeles, CA USA. [Siberry, George K.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Maternal & Pediat Infect Dis MPID Branch, NIH, Bethesda, MD USA. [DiMeglio, Linda A.] Indiana Univ Sch Med, Dept Pediat, Indianapolis, IN 46202 USA. [Crain, Marilyn J.] Univ Alabama Birmingham, Sch Med, Dept Pediat, Birmingham, AL USA. [Mirza, Ayesha] Univ Florida, Dept Pediat, Jacksonville, FL USA. [Chen, Janet S.] Drexel Univ, Coll Med, Dept Pediat, Philadelphia, PA 19104 USA. [McFarland, Elizabeth] Childrens Hosp Colorado, Dept Pediat, Denver, CO USA. [Silio, Margarita; Van Dyke, Russell B.] Tulane Univ, Sch Med, Dept Pediat, New Orleans, LA 70112 USA. [Rich, Kenneth] Univ Illinois, Dept Pediat, Chicago, IL USA. [Borkowsky, William] NYU, Dept Pediat, Langone Med Ctr, New York, NY 10016 USA. [Miller, Tracie L.] Univ Miami, Miller Sch Med, Div Pediat Clin Res, Dept Pediat, Miami, FL 33136 USA. Harvard TH Chan Sch Publ Hlth, Ctr Biostat AIDS Res, Boston, MA 02115 USA. RP Jacobson, DL (reprint author), Harvard TH Chan Sch Publ Hlth, Ctr Biostat AIDS Res, 655 Huntington Ave, Boston, MA 02115 USA. EM jacobson@sdac.harvard.edu FU National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institute of Allergy and Infectious Diseases; Office of AIDS Research; National Institute of Mental Health; National Institute of Neurological Disorders and Stroke; National Institute on Deafness and Other Communication Disorders; National Heart Lung and Blood Institute; National Institute of Dental and Craniofacial Research; National Institute on Alcohol Abuse and Alcoholism; Harvard University School of Public Health [HD052102, 3 U01 HD052102-05S1, 3 U01 HD052102-06S3]; Tulane University School of Medicine [HD052104, 3U01HD052104-06S1] FX This work was supported by the National Institutes of Health. The Pediatric HIV/AIDS Cohort Study (PHACS) was supported by the Eunice Kennedy Shriver National Institute of Child Health and Human Development with cofunding from the National Institute on Drug Abuse, the National Institute of Allergy and Infectious Diseases, the Office of AIDS Research, the National Institute of Mental Health, the National Institute of Neurological Disorders and Stroke, the National Institute on Deafness and Other Communication Disorders, the National Heart Lung and Blood Institute, the National Institute of Dental and Craniofacial Research and the National Institute on Alcohol Abuse and Alcoholism, through cooperative agreements with the Harvard University School of Public Health (HD052102, 3 U01 HD052102-05S1, 3 U01 HD052102-06S3) (Principal Investigator: George Seage; Project Director: Julie Alperen) and the Tulane University School of Medicine (HD052104, 3U01HD052104-06S1) (Principal Investigator: Russell Van Dyke; Co-Principal Investigator: Kenneth Rich; Project Director: Patrick Davis). Data management services were provided by Frontier Science and Technology Research Foundation (PI: Suzanne Siminski) and regulatory services and logistical support were provided by Westat, Inc (PI: Julie Davidson). NR 38 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0891-3668 EI 1532-0987 J9 PEDIATR INFECT DIS J JI Pediatr. Infect. Dis. J. PD FEB PY 2017 VL 36 IS 2 BP 189 EP 197 DI 10.1097/INF.0000000000001387 PG 9 WC Immunology; Infectious Diseases; Pediatrics SC Immunology; Infectious Diseases; Pediatrics GA EL1AI UT WOS:000394352500015 PM 27798548 ER PT J AU Schwartz, S Kessler, R Gaughan, T Buckley, AW AF Schwartz, Sophie Kessler, Riley Gaughan, Thomas Buckley, Ashura W. TI Electroencephalogram Coherence Patterns in Autism: An Updated Review SO PEDIATRIC NEUROLOGY LA English DT Review DE autism; EEG; coherence; synchrony; electroencephalography ID HIGH-FUNCTIONING AUTISM; SPECTRUM DISORDER; EEG COHERENCE; BRAIN CONNECTIVITY; ASPERGERS SYNDROME; JOINT ATTENTION; INTERHEMISPHERIC CONNECTIVITY; PHASE-SYNCHRONIZATION; SOCIAL COGNITION; ALPHA POWER AB Electrophysiologic studies suggest that autism spectrum disorder is characterized by aberrant anatomic and functional neural circuitry. During normal brain development, pruning and synaptogenesis facilitate ongoing changes in both short- and long-range neural wiring. In developmental disorders such as autism, this process may be perturbed and lead to abnormal neural connectivity. Careful analysis of electrophysiologic connectivity patterns using EEG coherence may provide a way to probe the resulting differences in neurological function between people with and without autism. There is general consensus that electroencephalogram coherence patterns differ between individuals with and without autism spectrum disorders; however, the exact nature of the differences and their clinical significance remain unclear. Here we review recent literature comparing electroencephalogram coherence patterns between patients with autism spectrum disorders or at high risk for autism and their non-autistic or low-risk for autism peers. C1 [Schwartz, Sophie] Boston Univ, Grad Program Neurosci, Boston, MA USA. [Kessler, Riley; Gaughan, Thomas; Buckley, Ashura W.] NIMH, Pediat & Dev Neurosci Branch, NIH, 10 Ctr Dr,MSC 1255, Bethesda, MD 20892 USA. RP Buckley, AW (reprint author), NIMH, Pediat & Dev Neurosci Branch, NIH, 10 Ctr Dr,MSC 1255, Bethesda, MD 20892 USA. EM Shu.Buckley@nih.gov FU ZIA MH [002914] FX Funding source ZIA MH 002914. NR 85 TC 0 Z9 0 U1 1 U2 1 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0887-8994 EI 1873-5150 J9 PEDIATR NEUROL JI Pediatr. Neurol. PD FEB PY 2017 VL 67 BP 7 EP 22 DI 10.1016/j.pediatrneurol.2016.10.018 PG 16 WC Clinical Neurology; Pediatrics SC Neurosciences & Neurology; Pediatrics GA EL6KI UT WOS:000394730800003 PM 28065825 ER PT J AU Gamir, J Darwiche, R van't Hof, P Choudhary, V Stumpe, M Schneiter, R Mauch, F AF Gamir, Jordi Darwiche, Rabih van't Hof, Pieter Choudhary, Vineet Stumpe, Michael Schneiter, Roger Mauch, Felix TI The sterol-binding activity of PATHOGENESIS-RELATED PROTEIN 1 reveals the mode of action of an antimicrobial protein SO PLANT JOURNAL LA English DT Article DE PR-1; CAP protein; antimicrobial protein; Phytophthora; sterol binding; plant immunity ID TRANSGENIC TOBACCO; CAP SUPERFAMILY; DEFENSE; ANTIFUNGAL; RESISTANCE; LEAVES; PR-1; EXPRESSION; MECHANISM; INFECTION AB Pathogenesis-related proteins played a pioneering role 50years ago in the discovery of plant innate immunity as a set of proteins that accumulated upon pathogen challenge. The most abundant of these proteins, PATHOGENESIS-RELATED 1 (PR-1) encodes a small antimicrobial protein that has become, as a marker of plant immune signaling, one of the most referred to plant proteins. The biochemical activity and mode of action of PR-1 proteins has remained elusive, however. Here, we provide genetic and biochemical evidence for the capacity of PR-1 proteins to bind sterols, and demonstrate that the inhibitory effect on pathogen growth is caused by the sequestration of sterol from pathogens. In support of our findings, sterol-auxotroph pathogens such as the oomycete Phytophthora are particularly sensitive to PR-1, whereas sterol-prototroph fungal pathogens become highly sensitive only when sterol biosynthesis is compromised. Our results are in line with previous findings showing that plants with enhanced PR-1 expression are particularly well protected against oomycete pathogens. C1 [Gamir, Jordi; Darwiche, Rabih; van't Hof, Pieter; Choudhary, Vineet; Stumpe, Michael; Schneiter, Roger; Mauch, Felix] Univ Fribourg, Dept Biol, Fribourg, Switzerland. [Choudhary, Vineet] NIDDK, Lab Cell & Mol Biol, NIH, Bethesda, MD 20892 USA. RP Schneiter, R; Mauch, F (reprint author), Univ Fribourg, Dept Biol, Fribourg, Switzerland. EM roger.schneiter@unifr.ch; felix.mauch@unifr.ch FU Swiss National Science Foundation [153202, 134742] FX We thank Didier Reinhardt and Markus Geisler for critically reading the manuscript, and Dieter Kressler for technical help in bacterial expression. This research was supported by Swiss National Science Foundation grants 153202 and 134742 to F.M. and R.S., respectively. The authors declare no conflicts of interest. NR 27 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0960-7412 EI 1365-313X J9 PLANT J JI Plant J. PD FEB PY 2017 VL 89 IS 3 BP 502 EP 509 DI 10.1111/tpj.13398 PG 8 WC Plant Sciences SC Plant Sciences GA EN1XE UT WOS:000395802900006 PM 27747953 ER PT J AU Cheng, CY Krishnakumar, V Chan, AP Thibaud-Nissen, F Schobel, S Town, CD AF Cheng, Chia-Yi Krishnakumar, Vivek Chan, Agnes P. Thibaud-Nissen, Francoise Schobel, Seth Town, Christopher D. TI Araport11: a complete reannotation of the Arabidopsis thaliana reference genome SO PLANT JOURNAL LA English DT Article DE Arabidopsis; annotation; transcriptome ID NATURAL ANTISENSE TRANSCRIPTS; SINGLE-NUCLEOTIDE RESOLUTION; NONSENSE-MEDIATED DECAY; SMALL RNA LOCI; SIRNA BIOGENESIS; GENE-EXPRESSION; SEQUENCING DATA; WIDE ANALYSIS; COMPREHENSIVE ANNOTATION; MOUSE TRANSCRIPTOME AB The flowering plant Arabidopsis thaliana is a dicot model organism for research in many aspects of plant biology. A comprehensive annotation of its genome paves the way for understanding the functions and activities of all types of transcripts, including mRNA, the various classes of non-coding RNA, and small RNA. The TAIR10 annotation update had a profound impact on Arabidopsis research but was released more than 5years ago. Maintaining the accuracy of the annotation continues to be a prerequisite for future progress. Using an integrative annotation pipeline, we assembled tissue-specific RNA-Seq libraries from 113 datasets and constructed 48359 transcript models of protein-coding genes in eleven tissues. In addition, we annotated various classes of non-coding RNA including microRNA, long intergenic RNA, small nucleolar RNA, natural antisense transcript, small nuclear RNA, and small RNA using published datasets and in-house analytic results. Altogether, we identified 635 novel protein-coding genes, 508 novel transcribed regions, 5178 non-coding RNAs, and 35846 small RNA loci that were formerly unannotated. Analysis of the splicing events and RNA-Seq based expression profiles revealed the landscapes of gene structures, untranslated regions, and splicing activities to be more intricate than previously appreciated. Furthermore, we present 692 uniformly expressed housekeeping genes, 43% of whose human orthologs are also housekeeping genes. This updated Arabidopsis genome annotation with a substantially increased resolution of gene models will not only further our understanding of the biological processes of this plant model but also of other species. C1 [Cheng, Chia-Yi; Krishnakumar, Vivek; Chan, Agnes P.; Schobel, Seth; Town, Christopher D.] J Craig Venter Inst, 9714 Med Ctr Dr, Rockville, MD 20850 USA. [Thibaud-Nissen, Francoise] NIH, Natl Ctr Biotechnol Informat, US Natl Lib Med, Bethesda, MD 20894 USA. RP Town, CD (reprint author), J Craig Venter Inst, 9714 Med Ctr Dr, Rockville, MD 20850 USA. EM cdtown@jcvi.org FU National Science Foundation [DBI-1262414] FX We would like to thank Michael Axtell, Eduardo Eyras, and Carson Holt for helpful discussions on software utilization (ShortStack, SUPPA, and MAKER-P), Kim Pruitt and Ho-Ming Chen for constructive comments, and Jason Miller and Sergio Contrino for critical reading of the manuscript. This work was funded by the National Science Foundation (DBI-1262414). NR 105 TC 2 Z9 2 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 0960-7412 EI 1365-313X J9 PLANT J JI Plant J. PD FEB PY 2017 VL 89 IS 4 BP 789 EP 804 DI 10.1111/tpj.13415 PG 16 WC Plant Sciences SC Plant Sciences GA EN1XA UT WOS:000395802500011 PM 27862469 ER PT J AU Gerber, LH Sikdar, S Aredo, JV Armstrong, K Rosenberger, WF Shao, H Shah, JP AF Gerber, Lynn H. Sikdar, Siddhartha Aredo, Jacqueline V. Armstrong, Katee Rosenberger, William F. Shao, Hui Shah, Jay P. TI Beneficial Effects of Dry Needling for Treatment of Chronic Myofascial Pain Persist for 6 Weeks After Treatment Completion SO PM&R LA English DT Article ID TRIGGER POINT PAIN; PRESSURE THRESHOLD; UPPER TRAPEZIUS; TISSUE CHANGES; MUSCLE; MANAGEMENT; QUANTIFICATION; STIMULATION; ACUPUNCTURE; SENSITIVITY AB Background: Dry needling is an effective treatment for reducing pain associated with active myofascial trigger points (a-MTrPs) in the short term. The duration of the benefits of this treatment have not been fully assessed. Objective: To determine whether the benefits of dry needling (DN) of a-MTrPs are sustained 6 weeks posttreatment. Design: Follow-up of a prospective study. Setting: University. Participants: A total of 45 patients (13 male and 32 female) with cervical pain >3 months and a-MTrPs in the upper trapezius who completed 3 DN treatments and who were evaluated 6 weeks posttreatment. Interventions: None. Main Outcome Measures: Primary outcomes were changes from baseline to follow-up in scores for the verbal analogue scale (VAS), Brief Pain Inventory (BPI), and MTrP status. MTrPs were rated as active (spontaneously painful), latent (painful only on compression), and nonpalpable nodule. Responders were patients whose MTrP status changed from active to latent or non palpable nodule (resolved). Secondary outcomes were pain pressure threshold (PPT), Profile of Mood States, Oswestry Disability Index (ODI), MOS 36-Item Short-Form Health Survey (SF-36), and cervical range of motion. Results: Pain measures remained significantly improved 6 weeks posttreatment (P <.003), as did the SF-36 physical functioning score (0.01) and ODI (P = .002). Side bending and PPT for subjects with unilateral MTrPs had sustained improvement (P = .002). The number of subjects with sustained MTrP response at 6 weeks was significant (P <.001). Comparing responders to non responders, the changes in VAS and BPI were statistically significant (P = .006, P = .03) but the change in PPT was not. Patients with higher baseline VAS scores had a higher risk of not responding to DN; those with a greater drop in VAS score from baseline had a higher probability of sustained response. A 1-unit decrease in VAS at baseline resulted in a 6.3-fold increase in the odds of being a responder versus a nonresponder (P = .008). Conclusions: In this study, there was sustained reduction of pain scores after completion of DN, which is more likely with a greater drop in VAS score. Patients with higher baseline VAS scores are less likely to respond to DN. Early intervention toward significant pain reduction is likely to be associated with sustained clinical response. C1 [Gerber, Lynn H.] George Mason Univ, Ctr Study Chron Illness & Disabil, MSN-2G7,4400 Univ Dr, Fairfax, VA 22030 USA. [Sikdar, Siddhartha] George Mason Univ, Dept Bioengn, Fairfax, VA 22030 USA. [Aredo, Jacqueline V.] NIH, Ctr Clin, Dept Rehabil Med, Bethesda, MD USA. [Armstrong, Katee] George Mason Univ, Ctr Study Chron Illness & Disabil, Fairfax, VA 22030 USA. [Armstrong, Katee; Rosenberger, William F.; Shao, Hui; Shah, Jay P.] George Mason Univ, Dept Stat, Fairfax, VA 22030 USA. RP Gerber, LH (reprint author), George Mason Univ, Ctr Study Chron Illness & Disabil, MSN-2G7,4400 Univ Dr, Fairfax, VA 22030 USA. EM ngerber1@gmu.edu FU National Institutes of Health; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health [1R01AR057348] FX Disclosures related to this publication: grant, National Institutes of Health; S.S. Bioengineering Department, George Mason University, Fairfax, VA Disclosures related to this publication: grant, National Institutes of Health; W.F.R. Department of Statistics, George Mason University, Fairfax, VA Disclosures related to this publication: grant, National Institutes of Health; Funding for this study was provided by the National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health (grant 1R01AR057348 to S.S.). NR 52 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1934-1482 EI 1934-1563 J9 PM&R JI PM&R PD FEB PY 2017 VL 9 IS 2 BP 105 EP 112 DI 10.1016/j.pmrj.2016.06.006 PG 8 WC Rehabilitation; Sport Sciences SC Rehabilitation; Sport Sciences GA EM3RF UT WOS:000395231600001 PM 27297448 ER PT J AU Bevans, M AF Bevans, Margaret TI Characterizing caregivers of older patients undergoing cancer treatment SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Bevans, Margaret] NIH, Bethesda, MD USA. FU NIH Clinical Center FX NIH Clinical Center NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 6.3 BP 14 EP 14 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700023 ER PT J AU Pao, M AF Pao, Maryland TI Dilemmas in pediatric psychopharmacology for pediatric psycho-oncology SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Pao, Maryland] NIH, Bethesda, MD USA. FU Intramural Program of the National Institute of Mental Health; Center for Cancer Research, NIH FX This work was supported [in part] by the Intramural Program of the National Institute of Mental Health and the Center for Cancer Research, NIH. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 9.1 BP 17 EP 17 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700031 ER PT J AU Wiener, L AF Wiener, Lori TI What do you mean I am not going to survive my cancer? Helping adolescents and young adults confront mortality SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Wiener, Lori] NCI, Bethesda, MD 20892 USA. FU Intramural Program of the National Cancer Institute, Center for Cancer Research FX This work was supported [in part] by the Intramural Program of the National Cancer Institute, Center for Cancer Research. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 9.3 BP 18 EP 18 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700033 ER PT J AU Kent, E AF Kent, Erin TI The SEER-MHOS linked data resource: A data linkage for assessing physical and psychosocial health of older americans with and without cancer SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Kent, Erin] NCI, Bethesda, MD 20892 USA. FU National Cancer Institute [IA16-142]; Centers for Medicare & Medicaid Services [IA16-142] FX Funding for SEER-MHOS is provided through an interagency agreement between the National Cancer Institute and the Centers for Medicare & Medicaid Services (IA16-142). NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 14.1 BP 23 EP 24 PG 2 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700047 ER PT J AU Jacobsen, P AF Jacobsen, Paul TI Effective strategies for promoting psychosocial care as part of routine cancer care: Lessons learned from healthcare delivery research SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Jacobsen, Paul] NCI, Div Canc Control & Populat Sci, Bethesda, MD 20892 USA. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 20.2 BP 31 EP 31 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700067 ER PT J AU Werner-Lin, A Young, J Ersig, A Hoskins, L Greene, M AF Werner-Lin, Allison Young, Jennifer Ersig, Anne Hoskins, Lindsey Greene, Mark TI A longitudinal study of cancer risk management for reproductive age BRCA mutation carriers: Family formation as "another platter on the smorgasbord of BRCA crap" SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Werner-Lin, Allison; Ersig, Anne] Univ Penn, Philadelphia, PA 19104 USA. [Young, Jennifer; Hoskins, Lindsey; Greene, Mark] NCI, Bethesda, MD 20892 USA. FU National Cancer Institute Breast Imaging Study [09-C-0074 (NCT-00868078)] FX National Cancer Institute Breast Imaging Study, protocol 09-C-0074 (NCT-00868078) NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 22.4 BP 35 EP 35 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700077 ER PT J AU Yopp, J Deal, A Nakamura, Z Park, E Edwards, T Wilson, D Beisecker, B Rosenstein, D AF Yopp, Justin Deal, Allison Nakamura, Zev Park, Eliza Edwards, Teresa Wilson, Doug Beisecker, Barbara Rosenstein, Donald TI Psychological and parental functioning of widowed fathers due to cancer: The first 2 years SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Yopp, Justin] Univ N Carolina, Chapel Hill, NC USA. [Deal, Allison; Nakamura, Zev; Park, Eliza; Edwards, Teresa; Wilson, Doug; Rosenstein, Donald] Univ North Carolina Chapel Hill, Chapel Hill, NC USA. [Beisecker, Barbara] NIH, Bethesda, MD USA. FU University Cancer Research Fund of The University of North Carolina at Chapel Hill; National Human Genome Research Institute, National Institutes of Health FX This work was supported by the University Cancer Research Fund of The University of North Carolina at Chapel Hill. This study was partially funded by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 24.1 BP 37 EP 38 PG 2 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700082 ER PT J AU Zadeh, S Wiener, L Aizvera, J Baker, K Prince, P AF Zadeh, Sima Wiener, Lori Aizvera, Jeasmine Baker, Karen Prince, Patty TI Bereavement debriefings: Enhancing grief management strategies and staff wellness SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Prince, Patty] NIMH, Bethesda, MD USA. [Zadeh, Sima; Wiener, Lori] NCI, Bethesda, MD 20892 USA. [Aizvera, Jeasmine; Baker, Karen] NIH, Bethesda, MD USA. FU NIH FX This work is funded in part by the NIH Intramural Research Program. NR 0 TC 0 Z9 0 U1 1 U2 1 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA 27.4 BP 44 EP 44 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700097 ER PT J AU Lengacher, C Rodriguez, C Moscoso, M Ramesar, S Reich, R Kip, K Meng, H Jim, H Rodriguez, C Cousin, L Le, A Alinat, C Paterson, C Park, J AF Lengacher, Cecile Rodriguez, Carmen Moscoso, Manolete Ramesar, Sophia Reich, Richard Kip, Kevin Meng, Hongdao Jim, Heather Rodriguez, Carmen Cousin, Lakeshia Le, Alice Alinat, Carissa Paterson, Carly Park, Jong TI Development of a mindfulness-based stress reduction program for Spanish-speaking Hispanic breast cancer survivors to improve cognitive impairment (CI) SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Lengacher, Cecile; Rodriguez, Carmen; Moscoso, Manolete; Ramesar, Sophia; Kip, Kevin; Meng, Hongdao; Rodriguez, Carmen; Cousin, Lakeshia; Le, Alice; Alinat, Carissa] Univ S Florida, Tampa, FL USA. [Reich, Richard; Jim, Heather; Park, Jong] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA. [Paterson, Carly] NCI, Bethesda, MD 20892 USA. FU NIH from the National Cancer Institute [1 R01 CA199160-01] FX The project described was supported by NIH grant 1 R01 CA199160-01 from the National Cancer Institute. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA T14 BP 52 EP 53 PG 2 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700115 ER PT J AU Marziliano, A Slivjak, E Jankauskaite, G Catarozoli, C Wiener, L Lichtenthal, W AF Marziliano, Allison Slivjak, Elizabeth Jankauskaite, Greta Catarozoli, Corinne Wiener, Lori Lichtenthal, Wendy TI Psychosocial outcomes among parents who discussed emotional concerns with a nurse or oncologist following the loss of their child to cancer SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Marziliano, Allison; Slivjak, Elizabeth; Jankauskaite, Greta; Catarozoli, Corinne; Lichtenthal, Wendy] Mem Sloan Kettering Canc Ctr, 1275 York Ave, New York, NY 10021 USA. [Wiener, Lori] NCI, Bethesda, MD 20892 USA. FU [R03 CA139944]; [K07 CA172216]; [T32 CA009461] FX This research was supported by R03 CA139944, K07 CA172216, and T32 CA009461. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA T19 BP 54 EP 55 PG 2 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700120 ER PT J AU Lengacher, C Reich, R Park, J Jim, H Ramesar, S Paterson, C Alinat, C Cousin, L Le, A Elias, M Xu, L White, R Chamberlain, M Kennedy, B Han, H Ismail-Khan, R Extermann, M Cox, C Kip, K AF Lengacher, Cecile Reich, Richard Park, Jong Jim, Heather Ramesar, Sophia Paterson, Carly Alinat, Carissa Cousin, Lakeshia Le, Alice Elias, Maya Xu, Lan White, Rachel Chamberlain, Megan Kennedy, Brittany Han, Hyo (Heather) Ismail-Khan, Roohi Extermann, Martine Cox, Charles Kip, Kevin TI A three arm randomized controlled trial on the efficacy of mindfulness-based stress reduction treatment on cognitive impairment among breast cancer survivors SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Lengacher, Cecile; Alinat, Carissa; Cousin, Lakeshia; Le, Alice; Elias, Maya; Xu, Lan; Cox, Charles; Kip, Kevin] Univ S Florida, Tampa, FL USA. [Reich, Richard; Park, Jong; Jim, Heather; White, Rachel; Chamberlain, Megan; Kennedy, Brittany; Han, Hyo (Heather); Ismail-Khan, Roohi; Extermann, Martine] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA. [Paterson, Carly] NCI, Bethesda, MD 20892 USA. FU NIH grant from the National Cancer Institute [R01 CA199160-01] FX The project is supported by NIH grant (R01 CA199160-01) from the National Cancer Institute. NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA F11 BP 82 EP 83 PG 2 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700186 ER PT J AU Lengacher, C Park, J Reich, R Alinat, C Ramesar, S Le, A Paterson, C Park, H Kiluk, J Han, H Ismail-Khan, R Kip, K AF Lengacher, Cecile Park, Jong Reich, Richard Alinat, Carissa Ramesar, Sophia Le, Alice Paterson, Carly Park, Hyun Kiluk, John Han, Hyo Ismail-Khan, Roohi Kip, Kevin TI Genetic profiles and their role in a mindfulness-based stress reduction program for breast cancer survivors (MBSR(BC)) SO PSYCHO-ONCOLOGY LA English DT Meeting Abstract C1 [Lengacher, Cecile; Alinat, Carissa; Ramesar, Sophia; Le, Alice; Kip, Kevin] Univ S Florida, Tampa, FL USA. [Park, Jong; Reich, Richard; Park, Hyun; Kiluk, John; Han, Hyo; Ismail-Khan, Roohi] H Lee Moffitt Canc Ctr & Res Inst, Tampa, FL USA. [Paterson, Carly] NCI, Bethesda, MD 20892 USA. FU University of South Florida's Established Researcher Award; National Cancer Institute [1R01CA131080-01A2] FX This project was supported in part by a grant from the University of South Florida's Established Researcher Award and in part by a grant from the National Cancer Institute (1R01CA131080-01A2). NR 0 TC 0 Z9 0 U1 0 U2 0 PU WILEY PI HOBOKEN PA 111 RIVER ST, HOBOKEN 07030-5774, NJ USA SN 1057-9249 EI 1099-1611 J9 PSYCHO-ONCOLOGY JI Psycho-Oncol. PD FEB PY 2017 VL 26 SU 1 SI SI MA F10 BP 82 EP 82 PG 1 WC Oncology; Psychology; Psychology, Multidisciplinary; Social Sciences, Biomedical SC Oncology; Psychology; Biomedical Social Sciences GA EL9UX UT WOS:000394966700185 ER PT J AU McCaffery, JM Jablonski, KA Franks, PW Delahanty, LM Aroda, V Marrero, D Hamman, RF Horton, ES Dagogo-Jack, S Wylie-Rosett, J Barrett-Connor, E Kitabchi, A Knowler, WC Wing, RR Florez, JC AF McCaffery, Jeanne M. Jablonski, Kathleen A. Franks, Paul W. Delahanty, Linda M. Aroda, Vanita Marrero, David Hamman, Richard F. Horton, Edward S. Dagogo-Jack, Samuel Wylie-Rosett, Judith Barrett-Connor, Elizabeth Kitabchi, Abbas Knowler, William C. Wing, Rena R. Florez, Jose C. CA Diabet Prevention Program Res Grp TI Replication of the Association of BDNF and MC4R Variants With Dietary Intake in the Diabetes Prevention Program SO PSYCHOSOMATIC MEDICINE LA English DT Article DE obesity; diet; total caloric intake; BDNF; MC4R; FTO ID NEUROTROPHIC FACTOR BDNF; GENOME-WIDE ASSOCIATION; EXCESSIVE WEIGHT-GAIN; BODY-MASS INDEX; ENERGY-INTAKE; LIFE-STYLE; FOOD-FREQUENCY; MELANOCORTIN-4 RECEPTOR; MACRONUTRIENT INTAKE; OBESITY AB Objective: Genomewide association studies (GWAS) have identified consistent associations with obesity, with a number of studies implicating eating behavior as a primary mechanism. Few studies have replicated genetic associations with dietary intake. This study evaluates the association between obesity susceptibility loci and dietary intake. Methods: Data were obtained as part of the Diabetes Prevention Program (DPP), a clinical trial of diabetes prevention in persons at high risk of diabetes. The association of 31 genomewide association studies identified obesity risk alleles with dietary intake, measured through a food frequency questionnaire, was investigated in 3,180 participants from DPP at baseline. Results: The minor allele at BDNF, identified as protective against obesity, was associated with lower total caloric intake (beta = -106.06, SE = 33.13; p = .0014) at experimentwide statistical significance (p = .0016), whereas association of MC4R rs571312 with higher caloric intake reached nominal significance (beta = 61.32, SE = 26.24; p = .0194). Among non-Hispanic white participants, the association of BDNF rs2030323 with total caloric intake was stronger (beta = -151.99, SE = 30.09; p < .0001), and association of FTO rs1421085 with higher caloric intake (beta = 56.72, SE = 20.69; p = .0061) and percentage fat intake (beta = 0.37, SE = 0.08; p =. 0418) was also observed. Conclusions: These results demonstrate with the strength of independent replication that BDNF rs2030323 is associated with 100 to 150 greater total caloric intake per allele, with additional contributions of MC4R and, in non-Hispanic white individuals, FTO. As it has been argued that an additional 100 kcal/d could account for the trends in weight gain, prevention focusing on genetic profiles with high dietary intake may help to quell adverse obesity trends. C1 [McCaffery, Jeanne M.; Wing, Rena R.] Miriam Hosp, Weight Control & Diabet Res Ctr, Providence, RI 02906 USA. [McCaffery, Jeanne M.; Wing, Rena R.] Brown Univ, Warren Alpert Sch, Providence, RI 02912 USA. [Jablonski, Kathleen A.] George Washington Univ, Biostat Ctr, Rockville, MD USA. [Franks, Paul W.] Lund Univ, Dept Clin Sci, Genet & Mol Epidemiol Unit, Malmo, Sweden. Umea Univ, Dept Med, Umea, Sweden. Harvard Sch Publ Hlth, Dept Nutr, Boston, MA USA. [Delahanty, Linda M.] Massachusetts Gen Hosp, Ctr Diabet, Boston, MA 02114 USA. Harvard Med Sch, Dept Med, Boston, MA USA. [Aroda, Vanita] Medstar Hlth Res Inst, Hyattsville, MD USA. [Marrero, David] Indiana Univ, Indianapolis, IN 46204 USA. [Hamman, Richard F.] Univ Colorado Denver, Dept Epidemiol, Colorado Sch Publ Hlth, Aurora, CO USA. [Horton, Edward S.] Joslin Diabet Ctr, Boston, MA 02215 USA. [Dagogo-Jack, Samuel] Univ Tennessee, Memphis, TN USA. [Wylie-Rosett, Judith] Albert Einstein Coll Med, Dept Epidemiol & Populat Hlth, Bronx, NY 10467 USA. [Barrett-Connor, Elizabeth] Univ Calif San Diego, La Jolla, CA 92093 USA. [Kitabchi, Abbas] Univ Pittsburgh, Pittsburgh, PA USA. [Knowler, William C.] Natl Inst Diabet & Digest & Kidney Dis, Diabet Epidemiol & Clin Res Sect, Phoenix, AZ USA. [Florez, Jose C.] Massachusetts Gen Hosp, Diabet Unit, Diabet Res Ctr, Boston, MA 02114 USA. [Florez, Jose C.] Massachusetts Gen Hosp, Ctr Human Genet Res, Boston, MA 02114 USA. Harvard Med Sch, Dept Med, Boston, MA USA. Broad Inst, Program Med & Populat Genet, Cambridge, MA USA. RP McCaffery, JM (reprint author), Miriam Hosp, Weight Control & Diabet Res Ctr, Providence, RI 02906 USA.; McCaffery, JM (reprint author), Brown Univ, Warren Alpert Sch, Providence, RI 02912 USA.; McCaffery, JM (reprint author), George Washington Univ, Ctr Biostat, Diabet Prevent Program Coordinating Ctr, 6110 Execut Blvd,Suite 750, Rockville, MD 20852 USA. EM dppmail@bsc.gwu.edu FU NIDDK of the National Institutes of Health; NIDDK; Indian Health Service; General Clinical Research Center Program, National Center for Research Resources; Office of Research on Minority Health; National Institute of Child Health and Human Development; National Institute on Aging; Centers for Disease Control and Prevention, Office of Research on Women's Health; Department of Veterans Affairs; American Diabetes Association FX Diabetes Prevention Program: The NIDDK of the National Institutes of Health provided funding to the clinical centers and the Coordinating Center for the design and conduct of the study; and collection, management, analysis, and interpretation of the data. The Southwestern American Indian Centers were supported directly by the NIDDK and the Indian Health Service. The General Clinical Research Center Program, National Center for Research Resources supported data collection at many of the clinical centers. Funding for data collection and participant support was also provided by the Office of Research on Minority Health, the National Institute of Child Health and Human Development, the National Institute on Aging, the Centers for Disease Control and Prevention, Office of Research on Women's Health, the Department of Veterans Affairs, and the American Diabetes Association. Bristol-Myers Squibb and Parke-Davis provided medication. This research was also supported, in part, by the intramural research program of the NIDDK. LifeScan Inc, Health O Meter, Hoechst Marion Roussel, Inc, Merck-Medco Managed Care, Inc, Merck and Co, Nike Sports Marketing, Slim Fast Foods Co, and Quaker Oats Co donated materials, equipment, or medicines for concomitant conditions. McKesson BioServices Corp, Matthews Media Group, Inc, and the Henry M. Jackson Foundation provided support services under subcontract with the Coordinating Center. The opinions expressed are those of the investigators and do not necessarily reflect the views of the Indian Health Service or other funding agencies. A complete list of centers, investigators, and staff can be found in the online Appendix, Supplemental Digital Content 2, http://links.lww.com/PSYMED/A316. NR 55 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0033-3174 EI 1534-7796 J9 PSYCHOSOM MED JI Psychosom. Med. PD FEB-MAR PY 2017 VL 79 IS 2 BP 224 EP 233 DI 10.1097/PSY.0000000000000380 PG 10 WC Psychiatry; Psychology; Psychology, Multidisciplinary SC Psychiatry; Psychology GA EL2IH UT WOS:000394442800012 PM 27551991 ER PT J AU Coleman, CN AF Coleman, C. Norman TI The Radiation Stress Response: Of the People, By the People and For the People SO RADIATION RESEARCH LA English DT Article ID PROSTATE-CANCER CELLS; FSAIIC MURINE FIBROSARCOMA; MEDICAL DECISION-MODEL; PHASE-III; LEUKEMIC GRANULOCYTES; CLINICAL-PHARMACOLOGY; ANTINEOPLASTIC AGENTS; SYNTHETIC LETHALITY; EXPRESSION PROFILES; DOSE MODIFICATION AB The radiation stress response can have broad impact. In this Failla Award presentation it is discussed in three components using terms relevant to the current political season as to how the radiation stress response can be applied to the benefit for cancer care and as service to society. Of the people refers to the impact of radiation on cells, tissues and patients. The paradigm our laboratory uses is radiation as a drug, called "focused biology'', and physics as "nano-IMRT'' because at the nanometer level physics and biology merge. By the people refers to how the general population often reacts to the word "radiation'' and how the Radiation Research Society can better enable society to deal with the current realities of radiation in our lives. For the people refers to the potential for radiation oncology and radiation sciences to improve the lives of millions of people globally who are now beyond benefits of cancer treatment and research. (C) 2017 by Radiation Research Society C1 [Coleman, C. Norman] NCI, Radiat Res Program, Div Canc Treatment & Diag, Bethesda, MD 20892 USA. [Coleman, C. Norman] NCI, Radiat Oncol Branch, NIH, Bldg 10, Bethesda, MD 20892 USA. [Coleman, C. Norman] US Dept HHS, Off Assistant Secretary Preparedness & Response, Washington, DC 20201 USA. RP Coleman, CN (reprint author), NCI, Radiat Res Program, 5710 Warwick Pl, Chevy Chase, MD 20815 USA. EM ccoleman@mail.nih.go FU NIH Intramural Research Program, National Cancer Institute, Center for Cancer Research [ZIA BC 010670] FX It is a great honor to receive this award. I have had the opportunity to interact with many of the previous winners including the three physicianscientists Drs. Henry Kaplan, Herman Suit and Rodney Withers. Many of the colleagues with whom I have had the privilege to collaborate are noted in the text or as co-authors of papers. Particular thanks go to the outstanding scientists who have worked within my laboratory group including: Drs. Sanjeewani Palayoor, Molykuty John-Aryankalayil, Adeola Makinde, Iris Eke, Edward Bump and Mansoor Ahmed; clinical colleagues Drs. Charlotte Jacobs, Lawrence Shulman and Todd Wasserman; and research nurses Joanne Halsey, Nancy Riese Daly, Lori Buswell and Lisa Noll. My colleagues at the Radiation Research Program, NCI, and the science and policy programs at NIAID and ASPR have been instrumental in pushing the research and development agenda for radiation biology and public health preparedness and response. I have learned a great deal from my students and mentees. Particular appreciation goes to my wife Karolynn, and children Gabrielle and Keith Coleman and to my sister Marge and her husband Egon Berg for their support and understanding of the time and effort that are integral for a career in research and social responsibility. The views expressed in this presentation are those of the presenter; no endorsement by NCI, NIH, or any other U. S. Government agency has been given or inferred. Presented at the 62nd Annual Meeting of the Radiation Research Society, October 2016. This study was supported by the NIH Intramural Research Program, National Cancer Institute, Center for Cancer Research (ZIA BC 010670). NR 76 TC 0 Z9 0 U1 0 U2 0 PU RADIATION RESEARCH SOC PI LAWRENCE PA 810 E TENTH STREET, LAWRENCE, KS 66044 USA SN 0033-7587 EI 1938-5404 J9 RADIAT RES JI Radiat. Res. PD FEB PY 2017 VL 187 IS 2 BP 129 EP 146 DI 10.1667/RR0CNC.1 PG 18 WC Biology; Biophysics; Radiology, Nuclear Medicine & Medical Imaging SC Life Sciences & Biomedicine - Other Topics; Biophysics; Radiology, Nuclear Medicine & Medical Imaging GA EM5TT UT WOS:000395377100001 PM 28118117 ER PT J AU Gilbert, ES Curtis, RE Hauptmann, M Kleinerman, RA Lynch, CF Stovall, M Smith, SA Weathers, R Andersson, M Dores, GM Fraumeni, JF Fossa, SD Hall, P Hodgson, DC Holowaty, EJ Joensuu, H Johannesen, TB Langmark, F Kaijser, M Pukkala, E Rajaraman, P Storm, HH Vaalavirta, L van den Belt-Dusebout, AW Aleman, BM Travis, LB Morton, LM van Leeuwen, FE AF Gilbert, Ethel S. Curtis, Rochelle E. Hauptmann, Michael Kleinerman, Ruth A. Lynch, Charles F. Stovall, Marilyn Smith, Susan A. Weathers, Rita Andersson, Michael Dores, Graca M. Fraumeni, Joseph F., Jr. Fossa, Sophie D. Hall, Per Hodgson, David C. Holowaty, Eric J. Joensuu, Heikki Johannesen, Tom B. Langmark, Froydis Kaijser, Magnus Pukkala, Eero Rajaraman, Preetha Storm, Hans H. Vaalavirta, Leila van den Belt-Dusebout, Alexandra W. Aleman, Berthe M. Travis, Lois B. Morton, Lindsay M. van Leeuwen, Flora E. TI Stomach Cancer Following Hodgkin Lymphoma, Testicular Cancer and Cervical Cancer: A Pooled Analysis of Three International Studies with a Focus on Radiation Effects SO RADIATION RESEARCH LA English DT Article ID LONG-TERM SURVIVORS; 2ND CANCERS; RISK; RADIOTHERAPY; THERAPY AB To further understand the risk of stomach cancer after fractionated high-dose radiotherapy, we pooled individual-level data from three recent stomach cancer case-control studies. These studies were nested in cohorts of five-year survivors of first primary Hodgkin lymphoma (HL), testicular cancer (TC) or cervical cancer (CX) from seven countries. Detailed data were abstracted from patient records and radiation doses were reconstructed to the site of the stomach cancer for cases and to the corresponding sites for matched controls. Among 327 cases and 678 controls, mean doses to the stomach were 15.3 Gy, 24.7 Gy and 1.9 Gy, respectively, for Hodgkin lymphoma, testicular cancer and cervical cancer survivors, with an overall mean dose of 10.3 Gy. Risk increased with increasing radiation dose to the stomach cancer site(P < 0.001) with no evidence of nonlinearity or of a downturn at the highest doses (>= 35 Gy). The pooled excess odds ratio per Gy (EOR/Gy) was 0.091 [95% confidence interval (CI): 0.036-0.20] with estimates of 0.049 (95% CI: 0.007-0.16) for Hodgkin lymphoma, 0.27 (95% CI: 0.054-1.44) for testicular cancer and 0.096 (95% CI: -0.002-0.39) for cervical cancer (P homogeneity = 0.25). The EOR/Gy increased with time since exposure (P trend = 0.004), with an EOR/Gy of 0.38 (95% CI: 0.12-1.04) for stomach cancer occurring >= 20 years postirradiation corresponding to odds ratios of 4.8 and 10.5 at radiation doses to the stomach of 10 and 25 Gy, respectively. Of 111 stomach cancers occurring >= 20 years after radiotherapy, 63.8 (57%) could be attributed to radiotherapy. Our findings differ from those based on Japanese atomic-bomb survivors, where the overall EOR/Gy was higher and where there was no evidence of an increase with time since exposure. By pooling data from three studies, we demonstrated a clear increase in stomach cancer risk over a wide range of doses from fractionated radiotherapy with the highest risks occurring many years after exposure. These findings highlight the need to directly evaluate the health effects of high-dose fractionated radiotherapy rather than relying on the data of persons exposed at low and moderate acute doses. (C) 2017 by Radiation Research Society C1 [Gilbert, Ethel S.; Curtis, Rochelle E.; Kleinerman, Ruth A.; Dores, Graca M.; Fraumeni, Joseph F., Jr.; Rajaraman, Preetha; Morton, Lindsay M.] NCI, Div Canc Epidemiol & Genet, NIH, DHHS, Rockville, MD USA. [Hauptmann, Michael; van den Belt-Dusebout, Alexandra W.; van Leeuwen, Flora E.] Netherlands Canc Inst, Dept Epidemiol & Biostat, Amsterdam, Netherlands. [Lynch, Charles F.] Univ Iowa, Dept Epidemiol, Iowa City, IA USA. [Stovall, Marilyn; Smith, Susan A.; Weathers, Rita] Univ Texas MD Anderson Canc Ctr, Dept Radiat Phys, Houston, TX 77030 USA. [Andersson, Michael] Copenhagen Univ Hosp, Dept Oncol, Copenhagen, Denmark. [Fossa, Sophie D.] Oslo Univ Hosp, Dept Oncol, Oslo, Norway. [Hall, Per] Univ Oslo, Oslo, Norway. [Hodgson, David C.] Karolinska Inst, Dept Med, Clin Epidemiol Unit, Stockholm, Sweden. [Holowaty, Eric J.] Univ Toronto, Dept Radiat Oncol, Toronto, ON, Canada. [Joensuu, Heikki; Vaalavirta, Leila] Univ Toronto, Dalla Lana Sch Publ Hlth, Toronto, ON, Canada. [Johannesen, Tom B.; Langmark, Froydis] Univ Helsinki, Dept Oncol, Cent Hosp, Helsinki, Finland. [Kaijser, Magnus] Univ Helsinki, Helsinki, Finland. [Pukkala, Eero] Canc Registry Norway, Oslo, Norway. [Pukkala, Eero] Karolinska Inst, Dept Med Epidemiol & Biostat, Stockholm, Sweden. [Storm, Hans H.] Finnish Canc Registry, Inst Stat & Epidemiol Canc Res, Helsinki, Finland. [Aleman, Berthe M.] Univ Tampere, Sch Hlth Sci, Tampere, Finland. [Travis, Lois B.] Danish Canc Soc, Copenhagen, Denmark. [van den Belt-Dusebout, Alexandra W.] Netherlands Canc Inst, Dept Radiat Oncol, Amsterdam, Netherlands. [Travis, Lois B.] Univ Indianapolis, Sch Med, Melvin & Bren Simon Canc Ctr, Indianapolis, IN 46227 USA. RP Gilbert, ES (reprint author), Div Canc Epidemiol & Genet, Radiat Epidemiol Branch, 9609 Med Ctr Dr,Room 7E576,MSC 9778, Bethesda, MD 20892 USA. EM gilberte@nih.gov FU intramural research program of the NIH and the NCI; Radiation Effects Research Foundation (RERF) in Hiroshima, Japan; Japanese Ministry of Health, Labour and Welfare; U.S. Department of Energy through the U.S. National Academy of Sciences FX This research was supported in part by the intramural research program of the NIH and the NCI, and with contracts from the NCI to: Cancer Care Ontario, Toronto, Canada (NO1-CP-31157); Danish Cancer Society, Copenhagen, Denmark (NO1-CP-31019); Finnish Cancer Registry,Helsinki, Finland (NO1-CP-31154); Information Management Services, Inc., Silver Spring, MD (N01-CP-31003); Karolinska Institute, Stockholm, Sweden (NO1-CP-31156); University of Iowa, Iowa City, IA (NO1-CP31155); The University of Texas MD Anderson Cancer Center, Houston, TX (N02-CP-55503); and Westat Inc., Rockville, MD (N02-CP-31136). This report makes use of data obtained from the Radiation Effects Research Foundation (RERF) in Hiroshima, Japan. RERF is a private foundation funded equally by the Japanese Ministry of Health, Labour and Welfare and the U.S. Department of Energy through the U.S. National Academy of Sciences. The data include information obtained from the Hiroshima City, Hiroshima Prefecture, Nagasaki City, and Nagasaki Prefecture Tumor Registries and the Hiroshima and Nagasaki Tissue Registries. The conclusions in this report are those of the authors and do not necessarily reflect the scientific judgment of RERF or its funding agencies. NR 24 TC 0 Z9 0 U1 1 U2 1 PU RADIATION RESEARCH SOC PI LAWRENCE PA 810 E TENTH STREET, LAWRENCE, KS 66044 USA SN 0033-7587 EI 1938-5404 J9 RADIAT RES JI Radiat. Res. PD FEB PY 2017 VL 187 IS 2 BP 186 EP 195 DI 10.1667/RR14453.1 PG 10 WC Biology; Biophysics; Radiology, Nuclear Medicine & Medical Imaging SC Life Sciences & Biomedicine - Other Topics; Biophysics; Radiology, Nuclear Medicine & Medical Imaging GA EM5TT UT WOS:000395377100005 PM 28118119 ER PT J AU Sproull, M Kramp, T Tandle, A Shankavaram, U Camphausen, K AF Sproull, Mary Kramp, Tamalee Tandle, Anita Shankavaram, Uma Camphausen, Kevin TI Multivariate Analysis of Radiation Responsive Proteins to Predict Radiation Exposure in Total-Body Irradiation and Partial-Body Irradiation Models SO RADIATION RESEARCH LA English DT Article ID C-REACTIVE PROTEIN; INJURY ASSESSMENT; BIOMARKERS AB In the event of a radiological or nuclear attack, advanced clinical countermeasures are needed for screening and medical management of the exposed population. In such a scenario, minimally invasive biomarkers that can accurately quantify radiation exposure would be useful for triage management by first responders. In this murine study, we evaluated the efficacy of a novel combination of radiation responsive proteins, Flt3 ligand (FL), serum amyloid A (SAA), matrix metalloproteinase 9 (MMP9), fibrinogen beta (FGB) and pentraxin 3 (PTX3) to predict the received dose after whole-or partial-body irradiation. Ten-week-old female C57BL6 mice received a single whole-body or partial-body dose of 18 Gy from a Pantak X-ray source at a dose rate of 2.28 Gy/min. Plasma was collected by cardiac puncture at 24, 48, 72 h and 1 week postirradiation. Plasma protein levels were determined via commercially available ELISA assay. A multivariate discriminant analysis was utilized to generate best-fit dose prediction models for whole-body exposures using the selected biomarker panel and its potential application to partial-body exposures was examined. The combination of values from FL, SAA, MMP9, FGB and PTX3 between 24 h and 1 week postirradiation yielded novel dose-response relationships. For day 1 postirradiation, the best-fit model yielded a predictive accuracy of 81% utilizing FL alone. The use of additional proteins did not enhance the model accuracy whereas, at day 2 postirradiation, the addition of PTX3 and FGB to FL increased the accuracy to 100%. At day 3 the use of FL and PTX3 yielded a predictive accuracy of 93% and at day 7 use of FL and SAA had an accuracy of 90%. Dose prediction of partial-body exposures based on the TBI model had a higher predictive accuracy when the percentage of the body exposed to radiation increased. Our findings indicate that this novel combination of radiation responsive biomarker proteins are an efficient method for predicting radiation exposure and are more accurate when used in concert compared to using any single biomarker protein alone. (C) 2017 by Radiation Research Society C1 [Sproull, Mary; Kramp, Tamalee; Tandle, Anita; Shankavaram, Uma; Camphausen, Kevin] NCI, Radiat Oncol Branch, 10 Ctr Dr 3B42, Bethesda, MD 20892 USA. RP Camphausen, K (reprint author), NCI, Radiat Oncol Branch, 10 Ctr Dr 3B42, Bethesda, MD 20892 USA. EM camphauk@mail.nih.gov FU Radiation and Nuclear Countermeasures Program, NIAID [Y2-OD-0332-01]; Intramural Research Program of the National Institutes of Health, National Cancer Institute [ZIA SC 010373] FX This research was supported in part by funding from the Radiation and Nuclear Countermeasures Program, #Y2-OD-0332-01 NIAID and by the Intramural Research Program of the National Institutes of Health, National Cancer Institute, #ZIA SC 010373. NR 18 TC 0 Z9 0 U1 0 U2 0 PU RADIATION RESEARCH SOC PI LAWRENCE PA 810 E TENTH STREET, LAWRENCE, KS 66044 USA SN 0033-7587 EI 1938-5404 J9 RADIAT RES JI Radiat. Res. PD FEB PY 2017 VL 187 IS 2 BP 251 EP 258 DI 10.1667/RR14558.1 PG 8 WC Biology; Biophysics; Radiology, Nuclear Medicine & Medical Imaging SC Life Sciences & Biomedicine - Other Topics; Biophysics; Radiology, Nuclear Medicine & Medical Imaging GA EM5TT UT WOS:000395377100011 PM 28118115 ER PT J AU Rogers, PAW Adamson, GD Al-Jefout, M Becker, CM D'Hooghe, TM Dunselman, GAJ Fazleabas, A Giudice, LC Horne, AW Hull, ML Hummelshoj, L Missmer, SA Montgomery, GW Stratton, P Taylor, RN Rombauts, L Saunders, PT Vincent, K Zondervan, KT AF Rogers, Peter A. W. Adamson, G. David Al-Jefout, Moamar Becker, Christian M. D'Hooghe, Thomas M. Dunselman, Gerard A. J. Fazleabas, Asgerally Giudice, Linda C. Horne, Andrew W. Hull, M. Louise Hummelshoj, Lone Missmer, Stacey A. Montgomery, Grant W. Stratton, Pamela Taylor, Robert N. Rombauts, Luk Saunders, Philippa T. Vincent, Katy Zondervan, Krina T. CA WES WERF Consortium Res Priorities TI Research Priorities for Endometriosis: Recommendations From a Global Consortium of Investigators in Endometriosis SO REPRODUCTIVE SCIENCES LA English DT Review DE endometriosis; research priorities; international workshop; consensus report ID CHRONIC PELVIC PAIN; GENOME-WIDE ASSOCIATION; IN-VITRO FERTILIZATION; QUALITY-OF-LIFE; DEEPLY INFILTRATING ENDOMETRIOSIS; LAPAROSCOPIC RADICAL EXCISION; SEGMENTAL BOWEL RESECTION; PHENOTYPE DATA-COLLECTION; PERITONEAL ENDOMETRIOSIS; MESENCHYMAL TRANSITION AB The 3rd International Consensus Workshop on Research Priorities in Endometriosis was held in SAo Paulo on May 4, 2014, following the 12th World Congress on Endometriosis. The workshop was attended by 60 participants from 19 countries and was divided into 5 main sessions covering pathogenesis/pathophysiology, symptoms, diagnosis/classification/prognosis, disease/symptom management, and research policy. This research priorities consensus statement builds on earlier efforts to develop research directions for endometriosis. Of the 56 research recommendations from the 2011 meeting in Montpellier, a total of 41 remained unchanged, 13 were updated, and 2 were deemed to be completed. Fifty-three new research recommendations were made at the 2014 meeting in Sao Paulo, which in addition to the 13 updated recommendations resulted in a total of 66 new recommendations for research. The research recommendations published herein, as well as those from the 2 previous papers from international consensus workshops, are an attempt to promote high-quality research in endometriosis by identifying and agreeing on key issues that require investigation. New areas included in the 2014 recommendations include infertility, patient stratification, and research in emerging nations, in addition to an increased focus on translational research. A revised and updated set of research priorities that builds on this document will be developed at the 13th World Congress on Endometriosis to be held on May 17-20, 2017, in Vancouver, British Columbia, Canada. C1 [Rogers, Peter A. W.] Univ Melbourne, Melbourne, Vic, Australia. [Adamson, G. David] Palo Alto Med Fdn Fertil Phys Northern Calif, Palo Alto, CA USA. [Adamson, G. David; Giudice, Linda C.; Hummelshoj, Lone; Missmer, Stacey A.; Rombauts, Luk] World Endometriosis Res Fdn, London, England. [Al-Jefout, Moamar] Mutah Univ, Mawtah, Jordan. [Becker, Christian M.; Vincent, Katy; Zondervan, Krina T.] Endometriosis Care Ctr, Nuffield Dept Obstet & Gynaecol, Oxford, England. [D'Hooghe, Thomas M.] Univ Leuven KU Leuven, Leuven, Belgium. [Dunselman, Gerard A. J.] Maastricht Univ, Med Ctr, Res Inst GROW, Dept Obstet & Gynaecol, Maastricht, Netherlands. [Fazleabas, Asgerally] Michigan State Univ, E Lansing, MI 48824 USA. [Giudice, Linda C.] Univ Calif San Francisco, San Francisco, CA 94143 USA. [Giudice, Linda C.; Hummelshoj, Lone; Taylor, Robert N.; Rombauts, Luk] World Endometriosis Soc, Vancouver, BC, Canada. [Horne, Andrew W.] Univ Edinburgh, MRC Ctr Reprod Hlth, Edinburgh, Midlothian, Scotland. [Hull, M. Louise] Univ Adelaide, Robinson Inst, Adelaide, SA, Australia. [Missmer, Stacey A.] Harvard Sch Med, Boston, MA USA. [Missmer, Stacey A.] Harvard Sch Publ Hlth, Boston, MA USA. [Montgomery, Grant W.] QIMR Berghofer Med Res Inst, Brisbane, Qld, Australia. [Stratton, Pamela] NIH, Bldg 10, Bethesda, MD 20892 USA. [Taylor, Robert N.] Wake Forest Sch Med, Winston Salem, NC USA. [Rombauts, Luk] Monash Univ, Clayton, Vic, Australia. [Saunders, Philippa T.] Univ Edinburgh, MRC Ctr Inflammat Res, Edinburgh, Midlothian, Scotland. [Zondervan, Krina T.] Univ Oxford, Wellcome Trust Ctr Human Genet, Oxford, England. RP Rogers, PAW (reprint author), Univ Melbourne, Royal Womens Hosp, Dept Obstet & Gynaecol, Level 7,20 Flemington Rd, Parkville, Vic 3052, Australia. EM parogers@unimelb.edu.au FU Bayer Health Care; RGC General Research Fund [475012]; ITC Innovation and Technology Fund [ITS/209/12]; Bayer Health Care Ltd. FX The author(s) disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: The workshop was funded by the World Endometriosis Society (WES) and the World Endometriosis Research Foundation (WERF). CMB holds a research grant from Bayer Health Care. HC has received travel support from AbbVie, Bayer Pharma, Gedeon Richter, Preglem, and Vifor Pharma, and holds research grants from Bayer Pharma, Preglem, the MRC (UK), and EME Program (MRC/NIHR-UK). TMD has received grants from Ferring, Merck Serono, MSD, Besins, Pharmaplex, and has received travel support from Ferring, Merck Serono and MSD. AF has grants from the NIH. IF holds a research grant from the Puerto Rico Science Technology and Research Trust. JG holds a research grant from Bayer Health Care. LCG holds a research grant from the NIH and is a shareholder in Merck and Pfizer. LGG has received research funding from Amgen and Boehringer Ingelheim. AWH holds research grants from NIHR/EME, HTA, and Chief Scientist Office. MLH holds research grants from AbbVie and Origio, has received travel expenses from Merck-Serono and Ferring, and is on the Medical Advisory board of Vifor Pharma Pty. NPJ has received travel expenses from Bayer Pharma, Merck-Serono, and MSD, and holds a research grant from AbbVie. GWM holds research grants from the Australian National Health and Medical Research Council. LR is a shareholder in Monash IVF. PTS holds a program grant from the UK Medical Research Council and a grant for Target from Bayer Pharma. PS has received research support by Allergan for the use of botulinum toxin a in studies of endometriosis-associated CPP. KV holds a research grant from Bayer Health Care. CCW holds research grants from the RGC General Research Fund (475012) and the ITC Innovation and Technology Fund (ITS/209/12). KTZ holds a research grant from Bayer Health Care Ltd. NR 183 TC 1 Z9 1 U1 1 U2 1 PU SAGE PUBLICATIONS INC PI THOUSAND OAKS PA 2455 TELLER RD, THOUSAND OAKS, CA 91320 USA SN 1933-7191 EI 1933-7205 J9 REPROD SCI JI Reprod. Sci. PD FEB PY 2017 VL 24 IS 2 BP 202 EP 226 DI 10.1177/1933719116654991 PG 25 WC Obstetrics & Gynecology; Reproductive Biology SC Obstetrics & Gynecology; Reproductive Biology GA EL7LN UT WOS:000394802500004 PM 27368878 ER PT J AU Kowalczyk, WJ AF Kowalczyk, William J. TI The utility of geographically-explicit ecological momentary assessment: from description to intervention SO SOCIAL PSYCHIATRY AND PSYCHIATRIC EPIDEMIOLOGY LA English DT Editorial Material ID CONTEXT C1 [Kowalczyk, William J.] NIA, Intramural Res Ctr, Clin Pharmacol & Therapeut Res Branch, Baltimore, MD 21224 USA. RP Kowalczyk, WJ (reprint author), NIA, Intramural Res Ctr, Clin Pharmacol & Therapeut Res Branch, Baltimore, MD 21224 USA. EM bill.kowalczyk@nih.gov FU Intramural Research Program of the NIH, NIDA FX This work was supported by the Intramural Research Program of the NIH, NIDA. NR 9 TC 0 Z9 0 U1 1 U2 1 PU SPRINGER HEIDELBERG PI HEIDELBERG PA TIERGARTENSTRASSE 17, D-69121 HEIDELBERG, GERMANY SN 0933-7954 EI 1433-9285 J9 SOC PSYCH PSYCH EPID JI Soc. Psychiatry Psychiatr. Epidemiol. PD FEB PY 2017 VL 52 IS 2 BP 131 EP 133 DI 10.1007/s00127-016-1283-7 PG 3 WC Psychiatry SC Psychiatry GA EM3EL UT WOS:000395197200002 PM 27734095 ER PT J AU Kim, JT Chung, PW Starkman, S Sanossian, N Stratton, SJ Eckstein, M Pratt, FD Conwit, R Liebeskind, DS Sharma, L Restrepo, L Tenser, MK Valdes-Sueiras, M Gornbein, J Hamilton, S Saver, JL AF Kim, Joon-Tae Chung, Pil-Wook Starkman, Sidney Sanossian, Nerses Stratton, Samuel J. Eckstein, Marc Pratt, Frank D. Conwit, Robin Liebeskind, David S. Sharma, Latisha Restrepo, Lucas Tenser, May-Kim Valdes-Sueiras, Miguel Gornbein, Jeffrey Hamilton, Scott Saver, Jeffrey L. CA FAST-MAG Trial TI Field Validation of the Los Angeles Motor Scale as a Tool for Paramedic Assessment of Stroke Severity SO STROKE LA English DT Article DE field validation; Los Angeles Motor Scale; paramedic assessment; prehospital stroke scale; stroke ID ACUTE ISCHEMIC-STROKE; HEALTH-CARE PROFESSIONALS; PREHOSPITAL STROKE; INTRACEREBRAL HEMORRHAGE; EARLY MANAGEMENT; TRIAL; OCCLUSION; REHABILITATION; ASSOCIATION; METHODOLOGY AB Background and Purpose The Los Angeles Motor Scale (LAMS) is a 3-item, 0- to 10-point motor stroke-deficit scale developed for prehospital use. We assessed the convergent, divergent, and predictive validity of the LAMS when performed by paramedics in the field at multiple sites in a large and diverse geographic region. Methods We analyzed early assessment and outcome data prospectively gathered in the FAST-MAG trial (Field Administration of Stroke Therapy-Magnesium phase 3) among patients with acute cerebrovascular disease (cerebral ischemia and intracranial hemorrhage) within 2 hours of onset, transported by 315 ambulances to 60 receiving hospitals. Results Among 1632 acute cerebrovascular disease patients (age 7013 years, male 57.5%), time from onset to prehospital LAMS was median 30 minutes (interquartile range 20-50), onset to early postarrival (EPA) LAMS was 145 minutes (interquartile range 119-180), and onset to EPA National Institutes of Health Stroke Scale was 150 minutes (interquartile range 120-180). Between the prehospital and EPA assessments, LAMS scores were stable in 40.5%, improved in 37.6%, and worsened in 21.9%. In tests of convergent validity, against the EPA National Institutes of Health Stroke Scale, correlations were r=0.49 for the prehospital LAMS and r=0.89 for the EPA LAMS. Prehospital LAMS scores did diverge from the prehospital Glasgow Coma Scale, r=-0.22. Predictive accuracy (adjusted C statistics) for nondisabled 3-month outcome was as follows: prehospital LAMS, 0.76 (95% confidence interval 0.74-0.78); EPA LAMS, 0.85 (95% confidence interval 0.83-0.87); and EPA National Institutes of Health Stroke Scale, 0.87 (95% confidence interval 0.85-0.88). Conclusions In this multicenter, prospective, prehospital study, the LAMS showed good to excellent convergent, divergent, and predictive validity, further establishing it as a validated instrument to characterize stroke severity in the field. C1 [Kim, Joon-Tae] Chonnam Natl Univ Hosp, Dept Neurol, Gwangju, South Korea. [Chung, Pil-Wook] Sungkyunkwan Univ, Sch Med, Kangbuk Samsung Hosp, Dept Neurol, Seoul, South Korea. [Starkman, Sidney] Univ Calif Los Angeles, David Geffen Sch Med, Dept Emergency Med & Neurol, Los Angeles, CA 90095 USA. [Pratt, Frank D.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Emergency, Los Angeles, CA 90095 USA. [Liebeskind, David S.; Sharma, Latisha; Restrepo, Lucas; Valdes-Sueiras, Miguel; Saver, Jeffrey L.] Univ Calif Los Angeles, David Geffen Sch Med, Dept Neurol, Los Angeles, CA 90095 USA. [Liebeskind, David S.; Sharma, Latisha; Restrepo, Lucas; Valdes-Sueiras, Miguel; Saver, Jeffrey L.] Univ Calif Los Angeles, David Geffen Sch Med, Comprehens Stroke Ctr, Los Angeles, CA 90095 USA. [Liebeskind, David S.] Univ Calif Los Angeles, David Geffen Sch Med, Neurovasc Imaging Res Core, Los Angeles, CA 90095 USA. [Gornbein, Jeffrey] Univ Calif Los Angeles, David Geffen Sch Med, Dept Biomath, Los Angeles, CA 90095 USA. [Sanossian, Nerses; Tenser, May-Kim] Univ Southern Calif, Dept Neurol, Los Angeles, CA USA. [Stratton, Samuel J.] Harbor Univ Calif Los Angeles, Med Ctr, Orange Cty EMS Agcy, Dept Emergency Med,Los Angeles EMS Agcy, Los Angeles, CA USA. [Eckstein, Marc] Univ So Calif, Keck Sch Med, Dept Emergency Med, Los Angeles, CA 90089 USA. [Eckstein, Marc] Los Angeles Fire Dept, Los Angeles, CA USA. [Pratt, Frank D.] Los Angeles Cty Dept Publ Hlth, Los Angeles, CA USA. [Conwit, Robin] NINDS, NIH, Bldg 36,Rm 4D04, Bethesda, MD 20892 USA. [Hamilton, Scott] Stanford Univ, Sch Med, Palo Alto, CA 94304 USA. RP Saver, JL (reprint author), Univ Calif Los Angeles, Stroke Ctr, 710 Westwood Plaza, Los Angeles, CA 90095 USA. EM jsaver@mednet.ucla.edu FU National Institutes of Health [NIH-NINDS U01 NS 44364] FX This study was supported by an Award from the National Institutes of Health (NIH-NINDS U01 NS 44364). NR 33 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0039-2499 EI 1524-4628 J9 STROKE JI Stroke PD FEB PY 2017 VL 48 IS 2 BP 298 EP 306 DI 10.1161/STROKEAHA.116.015247 PG 9 WC Clinical Neurology; Peripheral Vascular Disease SC Neurosciences & Neurology; Cardiovascular System & Cardiology GA EL3HN UT WOS:000394510300022 PM 28087807 ER PT J AU Lubitz, SA Yin, XY McManus, DD Weng, LC Aparicio, HJ Walkey, AJ Romero, JR Kase, CS Ellinor, PT Wolf, PA Seshadri, S Benjamin, EJ AF Lubitz, Steven A. Yin, Xiaoyan McManus, David D. Weng, Lu-Chen Aparicio, Hugo J. Walkey, Allan J. Romero, Jose Rafael Kase, Carlos S. Ellinor, Patrick T. Wolf, Philip A. Seshadri, Sudha Benjamin, Emelia J. TI Stroke as the Initial Manifestation of Atrial Fibrillation: The Framingham Heart Study SO STROKE LA English DT Article DE atrial fibrillation; atrial flutter; incidence; mass screening; stroke ID COST-EFFECTIVENESS; COHORT; ECG AB Background and Purpose-To prevent strokes that may occur as the first manifestation of atrial fibrillation (AF), screening programs have been proposed to identify patients with undiagnosed AF who may be eligible for treatment with anticoagulation. However, the frequency with which patients with AF present with stroke as the initial manifestation of the arrhythmia is unknown. Methods-We estimated the frequency with which AF may present as a stroke in 1809 community-based Framingham Heart Study participants with first-detected AF and without previous strokes, by tabulating the frequencies of strokes occurring on the same day, within 30 days before, 90 days before, and 365 days before first-detected AF. Using previously reported AF incidence rates, we estimated the incidence of strokes that may represent the initial manifestation of AF. Results-We observed 87 strokes that occurred 1 year before AF detection, corresponding to 1.7% on the same day, 3.4% within 30 days before, 3.7% within 90 days before, and 4.8% 1 year before AF detection. We estimated that strokes may present as the initial manifestation of AF at a rate of 2 to 5 per 10000 person-years, in both men and women. Conclusions-We observed that stroke is an uncommon but measureable presenting feature of AF. Our data imply that emphasizing cost-effectiveness of population-wide AF-screening efforts will be important given the relative infrequency with which stroke represents the initial manifestation of AF. C1 [Lubitz, Steven A.; Weng, Lu-Chen; Ellinor, Patrick T.] Boston Univ, Cardiovasc Res Ctr, Massachusetts Gen Hosp, Boston, MA 02215 USA. [Lubitz, Steven A.; Ellinor, Patrick T.] Boston Univ, Cardiac Arrhythmia Serv, Massachusetts Gen Hosp, Boston, MA 02215 USA. [Yin, Xiaoyan; Romero, Jose Rafael; Wolf, Philip A.; Seshadri, Sudha; Benjamin, Emelia J.] Natl Heart Lung & Blood Inst Framingham Heart Stu, Framingham, MA USA. [McManus, David D.] Univ Massachusetts, Div Cardiol, Dept Med, Sch Med, Worcester, MA USA. [Aparicio, Hugo J.; Romero, Jose Rafael; Wolf, Philip A.; Seshadri, Sudha; Benjamin, Emelia J.] Boston Univ, Sch Med, Boston, MA USA. [Aparicio, Hugo J.; Romero, Jose Rafael; Kase, Carlos S.; Seshadri, Sudha] Boston Med Ctr, Dept Neurol, Boston, MA USA. [Walkey, Allan J.] Boston Univ, Sch Med, Ctr Pulm, Boston, MA USA. [Walkey, Allan J.] Boston Univ, Sch Med, Sect Pulm & Crit Care Med, Boston, MA USA. [Walkey, Allan J.] Boston Univ, Sch Med, Dept Med, Boston, MA USA. [Benjamin, Emelia J.] Boston Univ, Sch Med, Prevent Med Sect, Dept Med, Boston, MA USA. RP Lubitz, SA (reprint author), Massachusetts Gen Hosp, Cardiac Arrhythmia Serv & Cardiovascular Res Ctr, 55 Fruit St,GRB 109, Boston, MA 02114 USA. EM slubitz@mgh.harvard.edu FU National Institutes of Health grants [K23HL114724, 2R01HL092577, 1R01HL128914, 1R01HL102214, R01HL104156, K24HL105780, R01NS017950, 1U01HL105268-01, R01 HL126911, KL2TR000160, HHSN268201500001I, N01-HC-25195]; Doris Duke Charitable Foundation Clinical Scientist Development Award [2014105]; American Heart Association Established Investigator Award [13EIA14220013] FX This study was supported by National Institutes of Health grants K23HL114724 (Dr Lubitz), 2R01HL092577, 1R01HL128914 (Drs Ellinor and Benjamin), 1R01HL102214 (Dr Benjamin), R01HL104156, K24HL105780 (Dr Ellinor), R01NS017950 (Dr Seshadri), 1U01HL105268-01, R01 HL126911 and KL2TR000160 (Dr McManus), HHSN268201500001I, and N01-HC-25195 (Framingham Heart Study); Doris Duke Charitable Foundation Clinical Scientist Development Award 2014105 (Dr Lubitz); and American Heart Association Established Investigator Award 13EIA14220013 (Dr Ellinor). NR 15 TC 0 Z9 0 U1 0 U2 0 PU LIPPINCOTT WILLIAMS & WILKINS PI PHILADELPHIA PA TWO COMMERCE SQ, 2001 MARKET ST, PHILADELPHIA, PA 19103 USA SN 0039-2499 EI 1524-4628 J9 STROKE JI Stroke PD FEB PY 2017 VL 48 IS 2 BP 490 EP 492 DI 10.1161/STROKEAHA.116.015071 PG 3 WC Clinical Neurology; Peripheral Vascular Disease SC Neurosciences & Neurology; Cardiovascular System & Cardiology GA EL3HN UT WOS:000394510300051 PM 28082669 ER PT J AU Siddiqui, MR Agarwal, PK AF Siddiqui, Mohammad R. Agarwal, Piyush K. TI High dose Bacillus Calmette-Guerin ( BCG) for urothelial carcinoma is trickier than expected SO TRANSLATIONAL CANCER RESEARCH LA English DT Editorial Material ID BLADDER-CANCER C1 [Siddiqui, Mohammad R.; Agarwal, Piyush K.] NCI, Urol Oncol Branch, NIH, Bethesda, MD 20892 USA. RP Agarwal, PK (reprint author), NIH, Bladder Canc Sect, Urol Oncol Branch, Natl Canc Ctr, Bldg 10,Room 2W-5940,10 Ctr Dr,MSC1210, Bethesda, MD 20892 USA. EM piyush.agarwal@nih.gov NR 2 TC 0 Z9 0 U1 0 U2 0 PU AME PUBL CO PI SHEUNG WAN PA ROOM 604 6-F HOLLYWOOD CENTER, 77-91, QUEENS ROAD, SHEUNG WAN, HONG KONG 00000, PEOPLES R CHINA SN 2218-676X EI 2219-6803 J9 TRANSL CANCER RES JI Transl. Cancer Res. PD FEB PY 2017 VL 6 SU 1 BP S31 EP S32 DI 10.21037/tcr.2017.02.04 PG 2 WC Oncology SC Oncology GA EP3UB UT WOS:000397306100011 ER PT J AU Quach, A Levine, ME Tanaka, T Lu, AT Chen, BH Ferrucci, L Ritz, B Bandinelli, S Neuhouser, ML Beasley, JM Snetselaar, L Wallace, RB Tsao, PS Absher, D Assimes, TL Stewart, JD Li, Y Hou, LF Baccarelli, AA Whitsel, EA Horvath, S AF Quach, Austin Levine, Morgan E. Tanaka, Toshiko Lu, Ake T. Chen, Brian H. Ferrucci, Luigi Ritz, Beate Bandinelli, Stefania Neuhouser, Marian L. Beasley, Jeannette M. Snetselaar, Linda Wallace, Robert B. Tsao, Philip S. Absher, Devin Assimes, Themistocles L. Stewart, James D. Li, Yun Hou, Lifang Baccarelli, Andrea A. Whitsel, Eric A. Horvath, Steve TI Epigenetic clock analysis of diet, exercise, education, and lifestyle factors SO AGING-US LA English DT Article DE diet; lifestyle; fish intake; alcohol intake; aging; epigenetic clock; DNA methylation ID CORONARY-HEART-DISEASE; LEUKOCYTE TELOMERE LENGTH; DNA METHYLATION AGE; TYPE-2 DIABETES-MELLITUS; ALL-CAUSE MORTALITY; C-REACTIVE PROTEIN; CARDIOVASCULAR-DISEASE; VEGETABLE CONSUMPTION; ALCOHOL-CONSUMPTION; METABOLIC SYNDROME AB Behavioral and lifestyle factors have been shown to relate to a number of health-related outcomes, yet there is a need for studies that examine their relationship to molecular aging rates. Toward this end, we use recent epi-genetic biomarkers of age that have previously been shown to predict all-cause mortality, chronic conditions and age-related functional decline. We analyze cross-sectional data from 4,173 postmenopausal female participants from the Women's Health Initiative, as well as 402 male and female participants from the Italian cohort study, Invecchiare nel Chianti. Extrinsic epigenetic age acceleration (EEAA) exhibits significant associations with fish intake (p=0.02), moderate alcohol consumption (p=0.01), education (p=3x10(-5)), BMI (p=0.01), and blood carotenoid levels (p=1x10(-5))-an indicator of fruit and vegetable consumption, whereas intrinsic epigenetic age acceleration (IEAA) is associated with poultry intake (p=0.03) and BMI (p=0.05). Both EEAA and IEAA were also found to relate to indicators of metabolic syndrome, which appear to mediate their associations with BMI. Metformin-the first-line medication for the treatment of type 2 diabetes-does not delay epigenetic aging in this observational study. Finally, longitudinal data suggests that an increase in BMI is associated with increase in both EEAA and IEAA. Overall, the epigenetic age analysis of blood confirms the conventional wisdom regarding the benefits of eating a high plant diet with lean meats, moderate alcohol consumption, physical activity, and education, as well as the health risks of obesity and metabolic syndrome. C1 [Quach, Austin; Levine, Morgan E.; Lu, Ake T.; Horvath, Steve] Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA. [Tanaka, Toshiko; Chen, Brian H.; Ferrucci, Luigi] NIA, Longitudinal Studies Sect, Translat Gerontol Branch, NIH, Baltimore, MD 21224 USA. [Ritz, Beate] Univ Calif Los Angeles, Sch Med, Dept Neurol, Los Angeles, CA 90095 USA. [Ritz, Beate] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Epidemiol, Los Angeles, CA 90095 USA. [Bandinelli, Stefania] ASF, Geriatr Unit, Florence, Italy. [Neuhouser, Marian L.] Fred Hutchinson Canc Res Ctr, Canc Prevent Program, Div Publ Hlth Sci, Seattle, WA 98109 USA. [Beasley, Jeannette M.] NYU, Dept Med, New York, NY 10016 USA. [Snetselaar, Linda; Wallace, Robert B.] Univ Iowa, Dept Epidemiol, 145 N Riverside Dr, Iowa City, IA 52242 USA. [Tsao, Philip S.; Assimes, Themistocles L.] Stanford Univ, Sch Med, Dept Med, Stanford, CA 94305 USA. [Tsao, Philip S.] VA Palo Alto Hlth Care Syst, Palo Alto, CA 94304 USA. [Absher, Devin] HudsonAlpha Inst Biotechnol, Huntsville, AL 35806 USA. [Stewart, James D.; Whitsel, Eric A.] Univ N Carolina, Gillings Sch Global Publ Hlth, Dept Epidemiol, Chapel Hill, NC 27599 USA. [Li, Yun] Univ N Carolina, Sch Med, Dept Genet, Chapel Hill, NC 27599 USA. [Li, Yun] Univ N Carolina, Gillings Sch Global Publ Hlth, Dept Biostat, Chapel Hill, NC 27599 USA. [Hou, Lifang] Northwestern Univ, Feinberg Sch Med, Dept Prevent Med, Chicago, IL 60611 USA. [Hou, Lifang] Northwestern Univ, Robert H Lurie Comprehens Canc Ctr, Feinberg Sch Med, Chicago, IL 60611 USA. [Baccarelli, Andrea A.] Columbia Univ, Mailman Sch Publ Hlth, Dept Environm Hlth Sci Epidemiol, Lab Environm Epigenet, New York, NY 10032 USA. [Whitsel, Eric A.] Univ N Carolina, Sch Med, Dept Med, Chapel Hill, NC 27599 USA. [Horvath, Steve] Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Biostat, Los Angeles, CA 90095 USA. RP Horvath, S (reprint author), Univ Calif Los Angeles, David Geffen Sch Med, Dept Human Genet, Los Angeles, CA 90095 USA.; Horvath, S (reprint author), Univ Calif Los Angeles, Fielding Sch Publ Hlth, Dept Biostat, Los Angeles, CA 90095 USA. EM shorvath@mednet.ucla.edu FU National Institutes of Health [NIH/NHLBI 60442456 BAA23]; National Institute of Environmental Health Sciences [R01ES020836]; WHIEMPC (Whitsel, Baccarelli, Hou) [R01ES021733, R01ES025225]; National Heart, Lung, and Blood Institute; National Institutes of Health; U.S. Department of Health and Human Services [HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, HHSN271201100004C]; NIH/NIA [5R01AG042511-02, U34AG051425-01]; NIH/NINDS [T32NS048004]; Burroughs Wellcome Fund Inter-school Training Program in Chronic Diseases (BWF-CHIP); Italian Ministry of Health [ICS110.1/RF97.71]; U.S. National Institute on Aging [263 MD 9164, 263 MD 821336] FX This WHI study was supported by National Institutes of Health NIH/NHLBI 60442456 BAA23 (Assimes, Absher, Horvath) and the National Institute of Environmental Health Sciences R01ES020836 WHIEMPC (Whitsel, Baccarelli, Hou), R01ES021733 (Baccarelli), and R01ES025225 (Baccarelli). The WHI program is funded by the National Heart, Lung, and Blood Institute, National Institutes of Health, U.S. Department of Health and Human Services through contracts HHSN268201100046C, HHSN268201100001C, HHSN268201100002C, HHSN268201100003C, HHSN268201100004C, and HHSN271201100004C. Additional support came from NIH/NIA 5R01AG042511-02 (Horvath), NIH/NIA U34AG051425-01 (Horvath), NIH/NINDS T32NS048004 (Levine), and the Burroughs Wellcome Fund Inter-school Training Program in Chronic Diseases (BWF-CHIP, Quach). The funding bodies played no role in the design, the collection, analysis, or interpretation of the data. The InCHIANTI study baseline (1998-2000) was supported as a "targeted project" (ICS110.1/RF97.71) by the Italian Ministry of Health and in part by the U.S. National Institute on Aging (Contracts: 263 MD 9164 and 263 MD 821336). NR 96 TC 0 Z9 0 U1 1 U2 1 PU IMPACT JOURNALS LLC PI ORCHARD PARK PA 6666 E QUAKER ST, STE 1, ORCHARD PARK, NY 14127 USA SN 1945-4589 J9 AGING-US JI Aging-US PD FEB PY 2017 VL 9 IS 2 BP 419 EP 446 DI 10.18632/aging.101168 PG 28 WC Cell Biology SC Cell Biology GA EO7TH UT WOS:000396892500012 PM 28198702 ER PT J AU Natkunam, Y Gratzinger, D de Jong, D Chadburn, A Goodlad, JR Chan, JKC Said, J Jaffe, ES AF Natkunam, Yasodha Gratzinger, Dita de Jong, Daphne Chadburn, Amy Goodlad, John R. Chan, John K. C. Said, Jonathan Jaffe, Elaine S. TI Immunodeficiency and Dysregulation Report of the 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Editorial Material ID B-CELL LYMPHOMAS; LYMPHOPROLIFERATIVE DISORDERS; EXPRESSION; PD-L1; HIV C1 [Natkunam, Yasodha; Gratzinger, Dita] Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. [de Jong, Daphne] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Goodlad, John R.] St James Univ Hosp, HMDS, Leeds, W Yorkshire, England. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 15 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 124 EP 128 DI 10.1093/ajcp/aqw200 PG 5 WC Pathology SC Pathology GA EP0WY UT WOS:000397108600001 ER PT J AU Natkunam, Y Goodlad, JR Chadburn, A de Jong, D Gratzinger, D Chan, JKC Said, J Jaffe, ES AF Natkunam, Yasodha Goodlad, John R. Chadburn, Amy de Jong, Daphne Gratzinger, Dita Chan, John K. C. Said, Jonathan Jaffe, Elaine S. TI EBV-Positive B-Cell Proliferations of Varied Malignant Potential 2015 SH/EAHP Workshop Report-Part 1 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Article DE Early lesion; Nondestructive lesion; Polymorphic lymphoproliferative disorder; Posttransplant lymphoproliferative disorder; Iatrogenic; Autoimmune; EBV; HIV ID EPSTEIN-BARR-VIRUS; PYOTHORAX-ASSOCIATED LYMPHOMA; POSTTRANSPLANT LYMPHOPROLIFERATIVE DISORDERS; OF-THE-LITERATURE; HEALTH-ORGANIZATION CLASSIFICATION; ORGAN TRANSPLANT RECIPIENTS; NECROSIS FACTOR THERAPY; CHRONIC INFLAMMATION; MUCOCUTANEOUS ULCER; FOLLICULAR HYPERPLASIA AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review B-cell proliferations of varied malignant potential associated with immunodeficiency. Methods: The Workshop Panel reviewed all cases of B-cell hyperplasias, polymorphic B-lymphoproliferative disorders, Epstein-Barr virus (EBV)-positive mucocutaneous ulcer, and large B-cell proliferations associated with chronic inflammation and rendered consensus diagnoses. Disease definitions, boundaries with more aggressive B-cell proliferations, and association with EBV were explored. Results: B-cell proliferations of varied malignant potential occurred in all immunodeficiency backgrounds. Presentation early in the course of immunodeficiency and in younger age groups and regression with reduction of immunosuppression were characteristic features. EBV positivity was essential for diagnosis in some hyperplasias where other specific defining features were absent. Conclusions: This spectrum of B-cell proliferations show similarities across immunodeficiency backgrounds. Localized forms of immunodeficiency disorders arise in immunocompetent patients most likely due to chronic immune stimulation and, despite aggressive histologic features, often show indolent clinical behavior. C1 [Natkunam, Yasodha; Gratzinger, Dita] Stanford Univ, Sch Med, L235,300 Pasteur Dr, Stanford, CA 94305 USA. [Goodlad, John R.] St James Univ Hosp, HMDS, Leeds, W Yorkshire, England. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [de Jong, Daphne] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 75 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 129 EP 152 DI 10.1093/ajcp/aqw214 PG 24 WC Pathology SC Pathology GA EP2QS UT WOS:000397228900001 ER PT J AU de Jong, D Roemer, MGM Chan, JKC Goodlad, J Gratzinger, D Chadburn, A Jaffe, ES Said, J Natkunam, Y AF de Jong, Daphne Roemer, Margaretha G. M. Chan, John K. C. Goodlad, John Gratzinger, Dita Chadburn, Amy Jaffe, Elaine S. Said, Jonathan Natkunam, Yasodha TI B-Cell and Classical Hodgkin Lymphomas Associated With Immunodeficiency 2015 SH/EAHP Workshop Report-Part 2 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Article DE PD-L1; 9p24; Iatrogenic immunodeficiency; Posttransplant lymphoproliferative disorder; Autoimmunity; Primary immunodeficiency; Large B-cell lymphoma; Classical Hodgkin lymphoma; T-cell/histiocyte-rich B-cell lymphoma; Marginal zone lymphoma ID POSTTRANSPLANT LYMPHOPROLIFERATIVE DISORDERS; SOLID-ORGAN TRANSPLANTATION; HEALTH-ORGANIZATION CLASSIFICATION; MARGINAL ZONE LYMPHOMA; FRENCH REGISTRY; EXPRESSION; THERAPY; DISEASE; RISK; MANAGEMENT AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology submitted small and large B-cell lymphomas (BCLs), including classical Hodgkin lymphoma (CHL), in the context of immunodeficiency. Methods: Clinicopathologic and molecular features were studied to explore unifying concepts in malignant B-cell proliferations across immunodeficiency settings. Results: Cases submitted to the workshop spanned small BCLs presenting as nodal or extranodal marginal zone lymphoma and lymphoplasmacytic lymphoma, Epstein-Barr virus (EBV) positive in 75% of cases. Submitted large BCLs formed a spectrum from diffuse large B-cell lymphoma (DLBCL) to CHL across immunodeficiency settings. Additional studies demonstrated overexpression of PD-L1 and molecular 9p24 alterations in the large BCL spectrum and across different immunodeficiency settings. Conclusions: Small BCLs occur in all immunodeficiency settings, and EBV positivity is essential for their recognition as immunodeficiency related. Large BCLs include a spectrum from DLBCL to CHL across all immunodeficiency settings; immunohistochemical and molecular features are suggestive of shared pathogenetic mechanisms involving PD-L1 immune checkpoints. C1 [de Jong, Daphne; Roemer, Margaretha G. M.] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands. [Roemer, Margaretha G. M.] Dana Farber Canc Inst, Boston, MA 02115 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Goodlad, John] St James Univ Hosp, HMDS, Leeds, W Yorkshire, England. [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, L235,300 Pasteur Dr, Stanford, CA 94305 USA. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 63 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 153 EP 170 DI 10.1093/ajcp/aqw216 PG 18 WC Pathology SC Pathology GA EP2QS UT WOS:000397228900002 ER PT J AU Chadburn, A Said, J Gratzinger, D Chan, JKC de Jong, D Jaffe, ES Natkunam, Y Goodlad, JR AF Chadburn, Amy Said, Jonathan Gratzinger, Dita Chan, John K. C. de Jong, Daphne Jaffe, Elaine S. Natkunam, Yasodha Goodlad, John R. TI HHV8/KSHV-Positive Lymphoproliferative Disorders and the Spectrum of Plasmablastic and Plasma Cell Neoplasms 2015 SH/EAHP Workshop Report-Part 3 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Article DE HHV8; KSHV; Multicentric Castleman disease; Germinotropic lymphoproliferative disorder; Plasmablastic lymphoma; Primary effusion lymphoma ID PRIMARY-EFFUSION-LYMPHOMA; SARCOMA-ASSOCIATED HERPESVIRUS; EPSTEIN-BARR-VIRUS; MULTICENTRIC CASTLEMAN-DISEASE; HUMAN-IMMUNODEFICIENCY-VIRUS; OF-THE-LITERATURE; GENE-EXPRESSION PROFILE; KAPOSIS-SARCOMA; DNA-SEQUENCES; CLINICOPATHOLOGICAL FEATURES AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review immunodeficiency-related lymphoproliferative disorders with plasmablastic and plasma cell differentiation. Methods: The workshop panel reviewed human herpes virus 8 (HHV8)/Kaposi sarcoma herpesvirus (KSHV)-associated lesions and other lesions exhibiting plasma cell differentiation, including plasmablastic proliferations with features of myeloma/plasmacytoma, plasmablastic neoplasms presenting in extranodal sites and effusion-based lymphomas, and rendered a consensus diagnosis. Results: The spectrum of HHV8/KSHV-associated proliferations ranged from multicentric Castleman disease (MCD) to MCD with plasmablastic aggregates to HHV8+ diffuse large B-cell lymphoma and germinotrophic lymphoproliferative disorder. Comparisons across effusion-based lymphomas with and without HHV8/KSHV and plasmablastic lymphomas in immunodeficient and immunocompetent patients were discussed. Conclusions: The presence or absence of HHV8/KSHV is a defining feature in disorders associated with Castleman disease, although their differential diagnosis and recognition of progression may be challenging. Plasmablastic proliferations overlap with myeloma/plasmacytoma as well as extranodal and effusion-based lymphomas. The involvement of Epstein-Barr virus is typically variable. C1 [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [de Jong, Daphne] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Goodlad, John R.] Univ Leeds, Leeds, W Yorkshire, England. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 96 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 171 EP 187 DI 10.1093/ajcp/aqw218 PG 17 WC Pathology SC Pathology GA EP2QS UT WOS:000397228900003 ER PT J AU Md, AC Said, J Gratzinger, D Chan, JKC de Jong, D Jaffe, ES Natkunam, Y Goodlad, JR AF Md, Amy Chadburn Said, Jonathan Gratzinger, Dita Chan, John K. C. de Jong, Daphne Jaffe, Elaine S. Natkunam, Yasodha Goodlad, John R. TI HHV8/KSHV-Positive Lymphoproliferative Disorders and the Spectrum of Plasmablastic and Plasma Cell Neoplasms 2015 SH/EAHP Workshop Report-Part 3 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Review DE HHV8; KSHV; Multicentric Castleman disease; Germinotropic lymphoproliferative disorder; Plasmablastic lymphoma; Primary effusion lymphoma ID PRIMARY-EFFUSION-LYMPHOMA; SARCOMA-ASSOCIATED HERPESVIRUS; MULTICENTRIC CASTLEMAN-DISEASE; HUMAN-IMMUNODEFICIENCY-VIRUS; GENE-EXPRESSION PROFILE; OF-THE-LITERATURE; KAPOSIS-SARCOMA; CLINICOPATHOLOGICAL FEATURES; TRANSPLANT RECIPIENTS; VIRAL INTERLEUKIN-6 AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review immunodeficiencyrelated lymphoproliferative disorders with plasmablastic and plasma cell differentiation. Methods: The workshop panel reviewed human herpes virus 8 (HHV8)/Kaposi sarcoma herpesvirus (KSHV)-associated lesions and other lesions exhibiting plasma cell differentiation, including plasmablastic proliferations with features of myeloma/plasmacytoma, plasmablastic neoplasms presenting in extranodal sites and effusion-based lymphomas, and rendered a consensus diagnosis. Results: The spectrum of HHV8/KSHV-associated proliferations ranged from multicentric Castleman disease (MCD) to MCD with plasmablastic aggregates to HHV8_diffuse large B-cell lymphoma and germinotrophic lymphoproliferative disorder. Comparisons across effusion-based lymphomas with and without HHV8/KSHV and plasmablastic lymphomas in immunodeficient and immunocompetent patients were discussed. Conclusions: The presence or absence of HHV8/KSHV is a defining feature in disorders associated with Castleman disease, although their differential diagnosis and recognition of progression may be challenging. Plasmablastic proliferations overlap with myeloma/plasmacytoma as well as extranodal and effusion-based lymphomas. The involvement of Epstein-Barr virus is typically variable. C1 [Md, Amy Chadburn] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [de Jong, Daphne] Vrije Univ Amsterdam, Med Ctr, Amsterdam, Netherlands. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Goodlad, John R.] Univ Leeds, Leeds, W Yorkshire, England. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, 300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 96 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 171 EP 187 DI 10.1093/ajcp/aqw218 PG 17 WC Pathology SC Pathology GA EP0WY UT WOS:000397108600004 ER PT J AU Gratzinger, D de Jong, D Jaffe, ES Chadburn, A Chan, JKC Goodlad, JR Said, J Natkunam, Y AF Gratzinger, Dita de Jong, Daphne Jaffe, Elaine S. Chadburn, Amy Chan, John K. C. Goodlad, John R. Said, Jonathan Natkunam, Yasodha TI T- and NK-Cell Lymphomas and Systemic Lymphoproliferative Disorders and the Immunodeficiency Setting 2015 SH/EAHP Workshop Report-Part 4 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Article DE Iatrogenic immunodeficiency; Posttransplant lymphoproliferative disorder; T-cell lymphoma; NK-cell lymphoma; Systemic T- or NK-cell lymphoma of childhood ID BARR-VIRUS INFECTION; HYDROA VACCINIFORME; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; ANGIOIMMUNOBLASTIC LYMPHADENOPATHY; NONIMMUNOCOMPROMISED HOSTS; FOLLOW-UP; DISEASE; DELTA; VARIANTS; MIMICS AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review immunodeficiency-related T- and natural killer (NK)-cell lymphoproliferations. Methods: The Workshop Panel reviewed 88 T- or NK-cell lymphoproliferations and rendered consensus diagnoses. Results: Hyperplasias of T-cell subsets may be clonal; retained architecture and the clinical setting support a benign diagnosis. Specific associations include hepatosplenic T-cell lymphoma with iatrogenic immunosuppression and breast implants with an indolent variant of anaplastic large cell lymphoma. Epstein-Barr virus (EBV)-positive T-cell lymphomas rarely occur in the acquired immunodeficiency setting. Systemic T- and NK-cell lymphoma of childhood overlaps with chronic active EBV and reversible hemophagocytic lymphohistiocytosis-related T-cell lymphoproliferations. Conclusions: Immunodeficiencies predispose to T-cell hyperplasias, which must not be overdiagnosed as lymphoma. Many T-cell lymphomas in the immunodeficiency setting are likely coincidental, with specific exceptions. Systemic T-or NK-cell lymphomas are part of a spectrum of EBV+ T or NK lymphoproliferations and can present in the acquired immunodeficiency setting. C1 [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, Stanford, CA 94305 USA. [de Jong, Daphne] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands. [Jaffe, Elaine S.] NIH, Bldg 10, Bethesda, MD 20892 USA. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [Goodlad, John R.] Univ Leeds, Leeds, W Yorkshire, England. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, Dept Pathol, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 52 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 188 EP 203 DI 10.1093/ajcp/aqw213 PG 16 WC Pathology SC Pathology GA EP2QS UT WOS:000397228900004 ER PT J AU Gratzinger, D Jaffe, ES Chadburn, A Chan, JKC de Jong, D Goodlad, JR Said, J Natkunam, Y AF Gratzinger, Dita Jaffe, Elaine S. Chadburn, Amy Chan, John K. C. de Jong, Daphne Goodlad, John R. Said, Jonathan Natkunam, Yasodha TI Primary/Congenital Immunodeficiency 2015 SH/EAHP Workshop Report-Part 5 SO AMERICAN JOURNAL OF CLINICAL PATHOLOGY LA English DT Article DE Primary immunodeficiency; Common variable immunodeficiency; Autoimmune lymphoproliferative syndrome; T-cell lymphoma; Double negative T cells ID AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME; COMMON VARIABLE IMMUNODEFICIENCY; X-LINKED AGAMMAGLOBULINEMIA; NODULAR REGENERATIVE HYPERPLASIA; 22Q11.2 DELETION SYNDROME; WISKOTT-ALDRICH SYNDROME; TRANSITIONAL B-CELLS; FAS GENE-MUTATIONS; DOWN-SYNDROME; T-CELLS AB Objectives: The 2015 Workshop of the Society for Hematopathology/European Association for Haematopathology aimed to review primary immunodeficiency and related lymphoproliferations. Methods: Primary immunodeficiencies were divided into immune dysregulation, DNA repair defects, low immunoglobulins, and combined immunodeficiencies. Results: Autoimmune lymphoproliferative syndrome (ALPS) is a prototypical immune dysregulation-type immunodeficiency, with defects in T-cell signaling or apoptosis, expansion of T-cell subsets, and predisposition to hemophagocytic lymphohistiocytosis. DNA repair defects directly predispose to malignancy. Low immunoglobulin immunodeficiencies such as common variable immunodeficiency (CVID) have underlying T-cell repertoire abnormalities predisposing to autoimmunity and B-cell lymphoproliferations. The full spectrum of B-cell lymphoproliferative disorders occurs in primary immunodeficiency. Conclusions: Lymphoproliferations in primary immunodeficiency mirror those in other immunodeficiency settings, with monomorphic B- and sometimes T lymphoproliferative disorders enriched in DNA repair defects. Distinctive T-cell subset expansions in ALPS, CVID, and related entities can mimic lymphoma, and recognition of double-negative T-cell or cytotoxic T-cell expansions is key to avoid overdiagnosis. C1 [Gratzinger, Dita; Natkunam, Yasodha] Stanford Univ, Sch Med, Stanford, CA 94305 USA. NIH, Bldg 10, Bethesda, MD 20892 USA. [Chadburn, Amy] Cornell Univ, Weill Med Coll, New York, NY 10021 USA. [Chan, John K. C.] Queen Elizabeth Hosp, Kowloon, Hong Kong, Peoples R China. [de Jong, Daphne] Vrije Univ Amsterdam Med Ctr, Amsterdam, Netherlands. [Goodlad, John R.] Univ Leeds, Leeds, W Yorkshire, England. [Said, Jonathan] Univ Calif Los Angeles, Med Ctr, Los Angeles, CA 90024 USA. RP Natkunam, Y (reprint author), Stanford Univ, Sch Med, Dept Pathol, L235,300 Pasteur Dr, Stanford, CA 94305 USA. EM yaso@stanford.edu NR 70 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0002-9173 EI 1943-7722 J9 AM J CLIN PATHOL JI Am. J. Clin. Pathol. PD FEB PY 2017 VL 147 IS 2 BP 204 EP 216 DI 10.1093/ajcp/aqw215 PG 13 WC Pathology SC Pathology GA EP2QS UT WOS:000397228900005 ER PT J AU Romero, R Erez, O Maymon, E Pacora, P AF Romero, Roberto Erez, Offer Maymon, Eli Pacora, Percy TI Is an episode of suspected preterm labor that subsequently leads to a term delivery benign? SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY LA English DT Editorial Material ID FOR-GESTATIONAL-AGE; ANTI-ANGIOGENIC FACTORS; INTRAUTERINE GROWTH RESTRICTION; PROSPECTIVE RANDOMIZED-TRIAL; PLACEBO-CONTROLLED TRIAL; UNEXPLAINED FETAL-DEATH; LATE-ONSET PREECLAMPSIA; MATERNAL PLASMA; PROSPECTIVE COHORT; PHYSIOLOGICAL TRANSFORMATION C1 [Romero, Roberto; Erez, Offer; Maymon, Eli; Pacora, Percy] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, Program Perinatal Res & Obstet, Div Intramural Res,NIH, Bethesda, MD 20892 USA. [Romero, Roberto; Erez, Offer; Maymon, Eli; Pacora, Percy] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, Program Perinatal Res & Obstet, Div Intramural Res,NIH, Detroit, MI 48201 USA. [Romero, Roberto] Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA. [Romero, Roberto] Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI 48824 USA. [Romero, Roberto] Wayne State Univ, Ctr Mol Med & Genet, Detroit, MI USA. [Erez, Offer; Maymon, Eli; Pacora, Percy] Wayne State Univ, Sch Med, Dept Obstet & Gynecol, Detroit, MI 48201 USA. RP Romero, R (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, Program Perinatal Res & Obstet, Div Intramural Res,NIH, Bethesda, MD 20892 USA.; Romero, R (reprint author), Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Perinatol Res Branch, Program Perinatal Res & Obstet, Div Intramural Res,NIH, Detroit, MI 48201 USA.; Romero, R (reprint author), Univ Michigan, Dept Obstet & Gynecol, Ann Arbor, MI 48109 USA.; Romero, R (reprint author), Michigan State Univ, Dept Epidemiol & Biostat, E Lansing, MI 48824 USA.; Romero, R (reprint author), Wayne State Univ, Ctr Mol Med & Genet, Detroit, MI USA. EM rr.ajoged@gmail.com NR 102 TC 0 Z9 0 U1 0 U2 0 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0002-9378 EI 1097-6868 J9 AM J OBSTET GYNECOL JI Am. J. Obstet. Gynecol. PD FEB PY 2017 VL 216 IS 2 BP 89 EP 94 DI 10.1016/j.ajog.2016.12.030 PG 6 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA EO9YJ UT WOS:000397043700001 PM 28148450 ER PT J AU Troisi, R Hoover, RN Hatch, EE AF Troisi, Rebecca Hoover, Robert N. Hatch, Elizabeth E. TI Comments on prenatal diethylstilbestrol exposure and high-grade squamous cell neoplasia of the lower genital tract Reply SO AMERICAN JOURNAL OF OBSTETRICS AND GYNECOLOGY LA English DT Letter C1 [Troisi, Rebecca; Hoover, Robert N.] NCI, Epidemiol & Biostat Program, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, 9609 Med Ctr Dr, Rockville, MD 20850 USA. [Hatch, Elizabeth E.] Boston Univ, Sch Publ Hlth, Dept Epidemiol, 715 Albany St, Boston, MA USA. RP Troisi, R (reprint author), NCI, Epidemiol & Biostat Program, Div Canc Epidemiol & Genet, NIH,Dept Hlth & Human Serv, 9609 Med Ctr Dr, Rockville, MD 20850 USA. EM troisir@mail.nih.gov; hooverr@mail.nih.gov; eehatch@bu.edu FU intramural division of the National Cancer Institute, National Institutes of Health, Department of Health and Human Services FX This study was supported by the intramural division of the National Cancer Institute, National Institutes of Health, Department of Health and Human Services. NR 4 TC 0 Z9 0 U1 0 U2 0 PU MOSBY-ELSEVIER PI NEW YORK PA 360 PARK AVENUE SOUTH, NEW YORK, NY 10010-1710 USA SN 0002-9378 EI 1097-6868 J9 AM J OBSTET GYNECOL JI Am. J. Obstet. Gynecol. PD FEB PY 2017 VL 216 IS 2 BP 198 EP 199 DI 10.1016/j.ajog.2016.09.098 PG 3 WC Obstetrics & Gynecology SC Obstetrics & Gynecology GA EO9YJ UT WOS:000397043700044 PM 27687217 ER PT J AU Georgiopoulou, VV Kalogeropoulos, AP Chowdhury, R Binongo, JNG Bibbins-Domingo, K Rodondi, N Simonsick, EM Harris, T Newman, AB Kritchevsky, SB Butler, J AF Georgiopoulou, Vasiliki V. Kalogeropoulos, Andreas P. Chowdhury, Ritam Binongo, Jose Nilo G. Bibbins-Domingo, Kirsten Rodondi, Nicolas Simonsick, Eleanor M. Harris, Tamara Newman, Anne B. Kritchevsky, Stephen B. Butler, Javed CA Hlth ABC Study TI Exercise Capacity, Heart Failure Risk, and Mortality in Older Adults: The Health ABC Study SO AMERICAN JOURNAL OF PREVENTIVE MEDICINE LA English DT Article ID ALL-CAUSE MORTALITY; 6-MINUTE WALK TEST; TYPE-2 DIABETES-MELLITUS; CORONARY-ARTERY-DISEASE; DISTANCE CORRIDOR WALK; CARDIORESPIRATORY FITNESS; BODY-COMPOSITION; CARDIOVASCULAR-DISEASE; PHYSICAL-FITNESS; MOBILITY LIMITATION AB Introduction: Data on the association between exercise capacity and risk for heart failure (HF) in older adults are limited. Methods: This study examined the association of exercise capacity, and its change over time, with 10-year mortality and incident HF in 2,935 participants of the Health, Aging, and Body Composition Study without HF at baseline (age, 73.6 [SD = 2.9] years; 52.1% women; 41.4% black; 58.6% white). This cohort was initiated in 1997-1998 and exercise capacity was evaluated with a long-distance corridor walk test (LDCW) at baseline and Year 4. Outcomes were collected in 2007-2008 and initial analysis performed in 2014. Results: Ten-year incident HF for completers (n = 2,245); non-completers (n = 331); and those excluded from LDCW for safety reasons (n = 359) was 11.4%, 19.2%, and 23.0%, respectively. The corresponding 10-year mortality was 27.9%, 41.1%, and 42.4%. In models accounting for competing mortality, the adjusted subhazard ratio for HF was 1.37 (95% CI = 1.00, 1.88; p = 0.049) in noncompleters and 1.41 (95% CI = 1.06, 1.89; p = 0.020) in those excluded versus completers. Noncompleters (adjusted hazard ratio, 1.49; 95% CI = 1.21, 1.84; p<0.001) and those excluded (hazard ratio, 1.27; 95% CI = 1.04, 1.55; p = 0.016) had elevated mortality. In adjusted models, LDCW performance variables were associated mainly with mortality. Only 20-meter walking speed and resting heart rate retained prognostic value for HF. Longitudinal changes in LDCW did not predict subsequent incident HF or mortality. Conclusions: Completing an LDCW is strongly associated with lower 10-year mortality and HF risk in older adults. Therefore, walking capacity may serve as an early risk marker. (C) 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved. C1 [Georgiopoulou, Vasiliki V.; Kalogeropoulos, Andreas P.] Emory Univ, Dept Med, Div Cardiol, Atlanta, GA 30322 USA. [Chowdhury, Ritam] Harvard Univ, Dept Biostat, Boston, MA USA. [Chowdhury, Ritam; Binongo, Jose Nilo G.] Emory Univ, Dept Biostat & Bioinformat, Atlanta, GA USA. [Bibbins-Domingo, Kirsten] Univ Calif San Francisco, Dept Med & Epidemiol & Biostat, San Francisco, CA 94143 USA. [Rodondi, Nicolas] Univ Bern, Dept Gen Internal Med, Bern, Switzerland. [Simonsick, Eleanor M.; Harris, Tamara] NIA, Lab Epidemiol Demog & Biometry, Intramural Res Program, Baltimore, MD USA. [Newman, Anne B.] Univ Pittsburgh, Dept Med, Pittsburgh, PA USA. [Newman, Anne B.] Univ Pittsburgh, Dept Epidemiol, Pittsburgh, PA USA. [Kritchevsky, Stephen B.] Wake Forest Univ, Dept Internal Med, Div Gerontol & Geriatr Med, Winston Salem, NC USA. [Butler, Javed] SUNY Stony Brook, Dept Med, Div Cardiol, Stony Brook, NY USA. RP Georgiopoulou, VV (reprint author), 1462 Clifton Rd,NE Suite 535A, Atlanta, GA 30322 USA. EM vgeorgi@em-ory.edu FU Intramural Research Program of the NIH, National Institute on Aging; National Institute on Aging, NIH [N01-AG-6-2101, N01-AG-6-2103, N01-AG-6-2106]; National Institute on Aging, NIH (National Institute on Aging grant) [R01-AG028050]; National Institute on Aging, NIH (National Institute of Nursing Research grant) [R01-NR012459]; Public Health Service from the Clinical and Translational Science Award program, NIH, National Center for Research Resources [UL1 RR025008]; Swiss National Science Foundation [SNSF 320030-150025]; Swiss Heart Foundation FX This research was supported in part by the Intramural Research Program of the NIH, National Institute on Aging. This work was supported in part by the National Institute on Aging, NIH, (grant N01-AG-6-2101; grant N01-AG-6-2103; grant N01-AG-6-2106; National Institute on Aging grant R01-AG028050, and National Institute of Nursing Research grant R01-NR012459); and by the Public Health Service (grant UL1 RR025008) from the Clinical and Translational Science Award program, NIH, National Center for Research Resources. Professor Rodondi's research is supported by a grant from the Swiss National Science Foundation (SNSF 320030-150025) and the Swiss Heart Foundation. NR 57 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0749-3797 EI 1873-2607 J9 AM J PREV MED JI Am. J. Prev. Med. PD FEB PY 2017 VL 52 IS 2 BP 144 EP 153 DI 10.1016/j.amepre.2016.08.041 PG 10 WC Public, Environmental & Occupational Health; Medicine, General & Internal SC Public, Environmental & Occupational Health; General & Internal Medicine GA EO9DP UT WOS:000396989700003 PM 27856115 ER PT J AU Persoskie, A Ferrer, RA AF Persoskie, Alexander Ferrer, Rebecca A. TI A Most Odd Ratio: Interpreting and Describing Odds Ratios SO AMERICAN JOURNAL OF PREVENTIVE MEDICINE LA English DT Article ID RARE DISEASE ASSUMPTION; LOGISTIC-REGRESSION; RISK RATIOS; MISUSE AB Introduction: The OR is one of the most commonly used measures of association in preventive medicine, and yet it is unintuitive and easily misinterpreted by journal authors and readers. Methods: This article describes correct interpretations of ORs, explains how ORs are different from risk ratios (RRs), and notes potential supplements and alternatives to the presentation of ORs that may help readers avoid confusion about the strength of associations. Results: ORs are often interpreted as though they have the same meaning as RRs (i.e., ratios of probabilities rather than ratios of odds), an interpretation that is incorrect in cross-sectional and longitudinal analyses. Without knowing the base rate of the outcome event in such analyses, it is impossible to evaluate the size of the absolute or relative change in risk associated with an OR, and misinterpreting the OR as an RR leads to the overestimation of the effect size when the outcome event is common rather than rare in the study sample. In case-control analyses, whether an OR can be interpreted as an RR depends on how the controls were selected. Conclusions: Education, peer reviewer vigilance, and journal reporting standards concerning ORs may improve the clarity and accuracy with which this common measure of association is described and understood in preventive medicine and public health research. Published by Elsevier Inc. on behalf of American Journal of Preventive Medicine. C1 [Persoskie, Alexander] FDA Ctr Tobacco Prod, Off Sci, Silver Spring, MD USA. [Ferrer, Rebecca A.] NCI, Div Canc Control & Populat Sci, NIH, Rockville, MD USA. RP Persoskie, A (reprint author), FDA Ctr Tobacco Prod, Bldg 71,Room G335,10903 New Hampshire Ave, Silver Spring, MD 20993 USA. EM persoskie@gmail.com FU Intramural NIH HHS [Z99 CA999999] NR 26 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0749-3797 EI 1873-2607 J9 AM J PREV MED JI Am. J. Prev. Med. PD FEB PY 2017 VL 52 IS 2 BP 224 EP 228 DI 10.1016/j.amepre.2016.07.030 PG 5 WC Public, Environmental & Occupational Health; Medicine, General & Internal SC Public, Environmental & Occupational Health; General & Internal Medicine GA EO9DP UT WOS:000396989700013 PM 27639787 ER PT J AU Farvid, MS Malekshah, AF Pourshams, A Poustchi, H Sepanlou, SG Sharafkhah, M Khoshnia, M Farvid, M Abnet, CC Kamangar, F Dawsey, SM Brennan, P Pharoah, PD Boffetta, P Willett, WC Malekzadeh, R AF Farvid, Maryam S. Malekshah, Akbar F. Pourshams, Akram Poustchi, Hossein Sepanlou, Sadaf G. Sharafkhah, Maryam Khoshnia, Masoud Farvid, Mojtaba Abnet, Christian C. Kamangar, Farin Dawsey, Sanford M. Brennan, Paul Pharoah, Paul D. Boffetta, Paolo Willett, Walter C. Malekzadeh, Reza TI Dietary Protein Sources and All-Cause and Cause-Specific Mortality: The Golestan Cohort Study in Iran SO AMERICAN JOURNAL OF PREVENTIVE MEDICINE LA English DT Article ID PROCESSED MEAT CONSUMPTION; CANCER-RISK; ESOPHAGEAL CANCER; FISH CONSUMPTION; ZEAXANTHIN CONCENTRATIONS; CARDIOVASCULAR-DISEASE; PHASEOLUS-VULGARIS; COLORECTAL-CANCER; EGG CONSUMPTION; GASTRIC-CANCER AB Introduction: Dietary protein comes from foods with greatly different compositions that may not relate equally with mortality risk. Few cohort studies from non-Western countries have examined the association between various dietary protein sources and cause-specific mortality. Therefore, the associations between dietary protein sources and all-cause, cardiovascular disease, and cancer mortality were evaluated in the Golestan Cohort Study in Iran. Methods: Among 42,403 men and women who completed a dietary questionnaire at baseline, 3,291 deaths were documented during 11 years of follow up (2004-2015). Cox proportional hazards models estimated age-adjusted and multivariate-adjusted hazard ratios (HRs) and 95% CIs for all cause and disease-specific mortality in relation to dietary protein sources. Data were analyzed from 2015 to 2016. Results: Comparing the highest versus the lowest quartile, egg consumption was associated with lower all-cause mortality risk (HR=0.88, 95% CI=0.79, 0.97, ptrend=0.03). In multivariate analysis, the highest versus the lowest quartile of fish consumption was associated with reduced risk of total cancer (HR=0.79, 95% CI=0.64, 0.98, ptrend=0.03) and gastrointestinal cancer (HR=0.75, 95% CI=0.56, 1.00, ptrend=0.02) mortality. The highest versus the lowest quintile of legume consumption was associated with reduced total cancer (HR=0.72, 95% CI=0.58, 0.89, ptrend=0.004), gastrointestinal cancer (HR=0.76, 95% CI=0.58, 1.01, ptrend=0.05), and other cancer (HR=0.66, 95% CI=0.47, 0.93, ptrend=0.04) mortality. Significant associations between total red meat and poultry intake and allcause, cardiovascular disease, or cancer mortality rate were not observed among all participants. Conclusions: These findings support an association of higher fish and legume consumption with lower cancer mortality, and higher egg consumption with lower all-cause mortality. (C) 2016 American Journal of Preventive Medicine. Published by Elsevier Inc. All rights reserved. C1 [Farvid, Maryam S.; Willett, Walter C.] Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA. [Farvid, Maryam S.; Malekshah, Akbar F.; Pourshams, Akram; Sepanlou, Sadaf G.; Sharafkhah, Maryam; Malekzadeh, Reza] Univ Tehran Med Sci, Res Inst, Digest Dis Res Ctr, Digest Dis, Tehran, Iran. [Farvid, Maryam S.] Massachusetts Gen Hosp, Harvard MGH Ctr Genom Vulnerable Populat & Hlth D, Mongan Inst Hlth Policy, Boston, MA 02114 USA. [Malekshah, Akbar F.; Poustchi, Hossein; Sepanlou, Sadaf G.] Univ Tehran Med Sci, Res Inst, Digest Oncol Res Ctr, Digest Dis, Tehran, Iran. [Pourshams, Akram; Poustchi, Hossein; Sharafkhah, Maryam; Malekzadeh, Reza] Univ Tehran Med Sci, Digest Dis Res Inst, Shariati Hosp, Liver & Pancreatobiliary Dis Res Ctr, Tehran, Iran. [Sharafkhah, Maryam] Univ Tehran Med Sci, Dept Epidemiol & Biostat, Tehran, Iran. [Khoshnia, Masoud] Golestan Univ Med Sci, Golestan Res Ctr Gastroenterol & Hepatol, Gorgan, Iran. [Farvid, Mojtaba] Linnaeus Univ, Vaxjo, Sweden. [Abnet, Christian C.; Dawsey, Sanford M.] NCI, Div Canc Epidemiol & Genet, NIH, Bethesda, MD 20892 USA. [Kamangar, Farin] Morgan State Univ, Dept Publ Hlth Anal, Sch Community Hlth & Policy, Baltimore, MD 21239 USA. [Brennan, Paul] Int Agcy Res Canc, Genet Epidemiol Grp, Lyon, France. [Pharoah, Paul D.] Univ Cambridge, Dept Oncol, Cambridge, England. [Pharoah, Paul D.] Univ Cambridge, Dept Publ Hlth & Primary Care, Cambridge, England. [Boffetta, Paolo] Icahn Sch Med Mt Sinai, Tisch Canc Inst, New York, NY 10029 USA. [Boffetta, Paolo] Icahn Sch Med Mt Sinai, Inst Translat Epidemiol, New York, NY 10029 USA. [Willett, Walter C.] Harvard TH Chan Sch Publ Hlth, Dept Epidemiol, Boston, MA USA. [Willett, Walter C.] Brigham & Womens Hosp, Dept Med, Channing Div Network Med, 75 Francis St, Boston, MA 02115 USA. [Willett, Walter C.] Harvard Med Sch, Boston, MA USA. RP Farvid, MS (reprint author), Harvard TH Chan Sch Publ Hlth, Dept Nutr, Boston, MA 02115 USA.; Malekzadeh, R (reprint author), Shariati Hosp, Digest Dis Res Inst, Dis Res Ctr, N Kargar St, Tehran, Iran. EM mfarvid@hsph.harvard.edu; malek@tums.ac.ir FU Tehran University of Medical Sciences [82-603]; Cancer Research United Kingdom [C20/A5860]; Intramural Research Program of the U.S. National Cancer Institute at NIH National Institutes of Health [Z01 CP000185-03]; Social Security Organization of Iran, Golestan Branch; Takemi Fellowship Program FX This work was supported by Tehran University of Medical Sciences (Grant No. 82-603), Cancer Research United Kingdom (grant No: C20/A5860), the Intramural Research Program of the U.S. National Cancer Institute at NIH National Institutes of Health (Z01 CP000185-03), and various collaborative research agreements with the International Agency for Research on Cancer. Many individuals have contributed to this study. We wish to thank the study participants for their cooperation over many years and the Behvarz' working in the study areas for their help. We thank the directors of the public health districts of Gonbad and Kalaleh for their collaboration. We express our special thanks to general physicians, nurses, and nutritionists in the enrollment teams for their collaboration and assistance. We received special support from the Social Security Organization of Iran, Golestan Branch. We have enjoyed the close collaboration of the Golestan health deputies and the Chief of the Gonbad health district. Dr. Maryam Farvid would like to express appreciation to the Japan Pharmaceutical Manufacturers Association for their financial support of the Takemi Fellowship Program. NR 46 TC 0 Z9 0 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0749-3797 EI 1873-2607 J9 AM J PREV MED JI Am. J. Prev. Med. PD FEB PY 2017 VL 52 IS 2 BP 237 EP 248 DI 10.1016/j.amepre.2016.10.041 PG 12 WC Public, Environmental & Occupational Health; Medicine, General & Internal SC Public, Environmental & Occupational Health; General & Internal Medicine GA EO9DP UT WOS:000396989700016 PM 28109460 ER PT J AU Libbus, B Simons, G Yao, YC AF Libbus, Bisharah Simons, Gordon Yao, Yi-Ching TI Rotating Multiple Sets of Labeled Points to Bring Them Into Close Coincidence: A Generalized Wahba Problem SO AMERICAN MATHEMATICAL MONTHLY LA English DT Article ID NUCLEAR-ENVELOPE; COMPLEX; TELOMERES; ATTITUDE AB While attempting to better understand the 3-dimensional structure of the mammalian nucleus as well as a rigid-body kinematics application, the authors encountered a naturally arising generalized version of the Wahba (1965) problem concerned with bringing multiple sets of labeled points into close coincidence after making appropriate rotations of these sets of labeled points. Our solution to this generalized problem entails the development of a computer algorithm, described and analyzed herein, that generalizes and utilizes an analytic formula, derived by Grace Wahba (1965), for determining space satellite attitudes, that task being to find a suitable rotation that brings one set of m labeled points into close coincidence, in a least-squares sense, with a second set of m labeled points. C1 [Libbus, Bisharah] Johns Hopkins Univ, Baltimore, MD 21218 USA. [Libbus, Bisharah] Haigazian Coll, Beirut, Lebanon. [Libbus, Bisharah] AUB, Beirut, Lebanon. [Libbus, Bisharah] Univ Vermont, Burlington, VT 05405 USA. [Libbus, Bisharah] NIH, Bldg 10, Bethesda, MD 20892 USA. [Libbus, Bisharah] 401 Ironwoods Dr, Chapel Hill, NC 27516 USA. [Simons, Gordon] Univ N Carolina, Dept Stat & Operat Res, Chapel Hill, NC 27599 USA. [Yao, Yi-Ching] Acad Sinica, Inst Stat Sci, Taipei 115, Taiwan. RP Libbus, B (reprint author), NIH, Bldg 10, Bethesda, MD 20892 USA.; Libbus, B (reprint author), 401 Ironwoods Dr, Chapel Hill, NC 27516 USA. EM blibbus@gmail.com; gsimons@live.unc.edu; yao@stat.sinica.edu.tw NR 17 TC 0 Z9 0 U1 0 U2 0 PU MATHEMATICAL ASSOC AMER PI WASHINGTON PA 1529 18TH STREET NW, WASHINGTON, DC 20036 USA SN 0002-9890 EI 1930-0972 J9 AM MATH MON JI Am. Math. Mon. PD FEB PY 2017 VL 124 IS 2 BP 149 EP 160 DI 10.4169/amer.math.monthly.124.2.149 PG 12 WC Mathematics SC Mathematics GA EN3FF UT WOS:000395893700004 ER PT J AU Togias, A Cooper, SF Acebal, ML Assa'ad, A Baker, JR Beck, LA Block, J Byrd-Bredbenner, C Chan, ES Eichenfield, LF Fleischer, DM Fuchs, GJ Furuta, GT Greenhawt, MJ Gupta, RS Habich, M Jones, SM Keaton, K Muraro, A Plaut, M Rosenwasser, LJ Rotrosen, D Sampson, HA Schneider, LC Sicherer, SH Sidbury, R Spergel, J Stukus, DR Venter, C Boyce, JA AF Togias, Alkis Cooper, Susan F. Acebal, Maria L. Assa'ad, Amal Baker, James R. jr Beck, Lisa A. Block, Julie Byrd-Bredbenner, Carol Chan, Edmond S. Eichenfield, Lawrence F. Fleischer, David M. Fuchs, George J., III Furuta, Glenn T. Greenhawt, Matthew J. Gupta, Ruchi S. Habich, Michele Jones, Stacie M. Keaton, Kari Muraro, Antonella Plaut, Marshall Rosenwasser, Lanny J. Rotrosen, Daniel Sampson, Hugh A. Schneider, Lynda C. Sicherer, Scott H. Sidbury, Robert Spergel, Jonathan Stukus, David R. Venter, Carina Boyce, Joshua A. TI Addendum guidelines for the prevention of peanut allergy in the United States: Report of the National Institute of Allergy and Infectious Diseasesesponsored expert panel SO ANNALS OF ALLERGY ASTHMA & IMMUNOLOGY LA English DT Article DE Foodpeanutallergypreventionguidelines ID HIGH-RISK INFANTS; FOOD ALLERGY; NUTRITIONAL INTERVENTIONS; ANAPHYLACTIC REACTIONS; GRADING QUALITY; PREVALENCE; CONSUMPTION; DISEASE; RECOMMENDATIONS; FEASIBILITY AB Background: Food allergy is an important public health problem because it affects children and adults, can be severe and even life-threatening, and may be increasing in prevalence. Beginning in 2008, the National Institute of Allergy and Infectious Diseases, working with other organizations and advocacy groups, led the development of the first clinical guidelines for the diagnosis and management of food allergy. A recent landmark clinical trial and other emerging data suggest that peanut allergy can be prevented through introduction of peanut-containing foods beginning in infancy. Objectives: Prompted by these findings, along with 25 professional organizations, federal agencies, and patient advocacy groups, the National Institute of Allergy and Infectious Diseases facilitated development of addendum guidelines to specifically address the prevention of peanut allergy. Results: The addendum provides 3 separate guidelines for infants at various risk levels for the development of peanut allergy and is intended for use by a wide variety of health care providers. Topics addressed include the definition of risk categories, appropriate use of testing (specific IgE measurement, skin prick tests, and oral food challenges), and the timing and approaches for introduction of peanut-containing foods in the health care provider's office or at home. The addendum guidelines provide the background, rationale, and strength of evidence for each recommendation. Conclusions: Guidelines have been developed for early introduction of peanut-containing foods into the diets of infants at various risk levels for peanut allergy. Published by Elsevier Inc on behalf of the American College of Allergy, Asthma & Immunology. C1 [Togias, Alkis; Cooper, Susan F.; Plaut, Marshall; Rotrosen, Daniel] NIAID, 5601 Fishers Lane,Room 7C28, Rockville, MD 20892 USA. [Acebal, Maria L.] Board Directors, Food Allergy Res & Educ, Mclean, VA USA. [Assa'ad, Amal] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Div Allergy & Immunol, Cincinnati, OH USA. [Baker, James R. jr] Food Allergy Res & Educ, Mclean, VA USA. [Baker, James R. jr] Univ Michigan Hlth Syst, Div Allergy & Clin Immunol, Ann Arbor, MI USA. [Beck, Lisa A.] Univ Rochester, Med Ctr, Dept Dermatol, Rochester, NY 14627 USA. [Block, Julie] Natl Eczema Assoc, San Rafael, CA USA. [Byrd-Bredbenner, Carol] Rutgers State Univ, Dept Nutr Sci, New Brunswick, NJ USA. [Chan, Edmond S.] Univ British Columbia, BC Childrens Hosp, Dept Pediat, Div Allergy & Immunol, Vancouver, BC, Canada. [Eichenfield, Lawrence F.] Univ Calif San Diego, Sch Med, Rady Childrens Hosp, Dept Dermatol, San Diego, CA 92103 USA. [Eichenfield, Lawrence F.] Univ Calif San Diego, Sch Med, Rady Childrens Hosp, Dept Pediat, San Diego, CA 92103 USA. [Fleischer, David M.; Greenhawt, Matthew J.] Univ Colorado Denver, Sch Med, Sect Allergy & Immunol, Dept Pediat,Childrens Hosp Colorado, Aurora, CO USA. [Fuchs, George J., III] Univ Kentucky, Coll Med, Kentucky Childrens Hosp, Div Gastroenterol Hepatol & Nutr,Dept Pediat, Lexington, KY USA. [Furuta, Glenn T.] Childrens Hosp Colorado, Digest Hlth Inst, Aurora, CO USA. [Furuta, Glenn T.] Univ Colorado Denver, Sch Med, Sect Pediat Gastroenterol, Aurora, CO USA. [Gupta, Ruchi S.] Northwestern Univ, Div Acad Gen Pediat & Primary Care, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 USA. [Gupta, Ruchi S.] Northwestern Univ, Ann & Robert H Lurie Childrens Hosp Chicago, Feinberg Sch Med, Chicago, IL 60611 USA. [Habich, Michele] Cent DuPage Hosp, Northwestern Med, Winfield, IL USA. [Jones, Stacie M.] Univ Arkansas Med Sci, Arkansas Childrens Hosp, Dept Pediat, Div Allergy & Immunol, Little Rock, AR 72205 USA. [Keaton, Kari] Metro DC Food Allergy Support Grp, Rockville, MD USA. [Muraro, Antonella] Padua Univ Hosp, Dept Women & Child Hlth, Food Allergy Referral Ctr, Padua, Italy. [Rosenwasser, Lanny J.] Univ Missouri Kansas City, Sch Med, Kansas City, MO USA. [Sampson, Hugh A.] Icahn Sch Med Mt Sinai, Dept Pediat, Div Allergy & Immunol, New York, NY 10029 USA. [Sicherer, Scott H.] Icahn Sch Med Mt Sinai, Div Pediat Allergy & Immunol, New York, NY 10029 USA. [Schneider, Lynda C.] Boston Childrens Hosp, Div Allergy & Immunol, Boston, MA USA. [Sidbury, Robert] Univ Washington, Sch Med, Dept Pediat, Div Dermatol,Seattle Childrens Hosp, Seattle, WA 98195 USA. [Spergel, Jonathan] Univ Penn, Childrens Hosp Philadelphia, Perelman Sch Med, Div Allergy & Immunol,Dept Pediat, Philadelphia, PA 19104 USA. [Stukus, David R.] Ohio State Univ, Coll Med, Nationwide Childrens Hosp, Dept Pediat,Sect Allergy & Immunol, Columbus, OH 43210 USA. [Venter, Carina] Cincinnati Childrens Hosp Med Ctr, Div Allergy & Immunol, Cincinnati, OH 45229 USA. [Boyce, Joshua A.] Harvard Med Sch, Dept Med, Boston, MA USA. [Boyce, Joshua A.] Harvard Med Sch, Dept Pediat, Boston, MA USA. RP Cooper, SF (reprint author), NIAID, Div Allergy Immunol & Transplantat, NIH, 5601 Fishers Lane,Room 7C28, Rockville, MD USA. EM coopersu@niaid.nih.gov FU DBV Technologies; Aimmune; Stanford Foundation; TEVA Pharmaceuticals; GlaxoSmithKline; National Institutes of Health (NIH); Astellas; Food Allergy Research & Education (FARE); ACAAI; NIH/National Institute of Allergy and Infectious Disease (NIAID); Pfizer; Sanofi; Mead Johnson; Nestle; Monsanto Company; Nestle Nutrition Institute; Aimmune Therapeutics; Agency for Healthcare Research and Quality [1K08HS024599-01]; Reach MD; Thermo Fisher Scientific; California Society for Allergy and Immunology; Allergy and Asthma Network; New England Society for Allergy; UCLA/Harbor Heiner Lectureship; Medscape; Western Michigan School of Medicine; Canadian Society of Allergy and Clinical Immunology; Pennsylvania Society for Allergy and Immunology; NIH; FARE; Mylan LLC; Grand Rounds; NIH/ NIAID (Consortium of Food Allergy Research and Immune Tolerance Network-IMPACT Trial); Aimmune Technologies; National Peanut Board; Kansas City Allergy Society; Mercy Children's Hospital; Riley Children's Hospital; Southwester Medical School-Children's Medical Center; European Academy of Allergy & Clinical Immunology; New York Allergy Asthma Society; University of Iowa Paul M. Seebohm Lectureship in Allergy; Iowa Society of Allergy, Asthma, and Immunology; Meda; Menarini; NIAID; Immune Tolerance Network; HAL Allergy; Epidermolysis Bullosa Research Partnership; Taiwanese Dermatological Society; Dartmouth College; Florida Allergy Society FX A. Assa'ad received travel support from the American College of Allergy, Asthma & Immunology (ACAAI); was an elected member of the Board of Directors for the American Academy of Allergy, Asthma, & Immunology (AAAAI) from March 2012 to March 2016; has consultant arrangements with Aimmune; is employed by Cincinnati Children's Hospital Medical Center; has received grants from DBV Technologies, Aimmune, Stanford Foundation, TEVA Pharmaceuticals, GlaxoSmithKline, the National Institutes of Health (NIH), Astellas, and Food Allergy Research & Education (FARE); and has received payment for lectures from the ACAAI. C. Byrd-Bredbenner and G. J. Fuchs III have received travel support from the NIH/National Institute of Allergy and Infectious Disease (NIAID). E. S. Chan has received travel support from the NIAID, has received grants from DBV Technologies, and has received payment for lectures from Pfizer, Sanofi, Mead Johnson, and Nestle. D. M. Fleischer has received travel support from the NIAID; is a board member for the National Peanut Board, the FAACT Medical Advisory Board, and the FARE Medical Advisory Board; has consultant arrangements with Adamis Pharmaceuticals Corporation, INSYS Therapeutics, DBV Technologies, Aimmune Therapeutics, Intrommune Therapeutics, and Kaleo Pharma; is employed by University Physicians; has received grants from Monsanto Company, Nestle Nutrition Institute, DBV Technologies, and Aimmune Therapeutics; has received payment for lectures from Nestle Nutrition Institute; and has received royalties from UpToDate. M. J. Greenhawt has received a grant from the Agency for Healthcare Research and Quality (1K08HS024599-01, Career Development Award); has received travel support from the NIAID and the Joint Taskforce on Allergy Practice Parameters; has a board membership with the National Peanut Board; has consultant arrangements with Adamis Pharmaceuticals, the Canadian Transportation Agency, Nutricia, Nestle/Gerber, Aimmune, Kaleo Pharmaceutical, and Monsanto; is an Associate Editor for the Annals of Allergy, Asthma, and Immunology; has received payment for lectures from the ACAAI, Reach MD, Thermo Fisher Scientific, the California Society for Allergy and Immunology, the Allergy and Asthma Network, the New England Society for Allergy, UCLA/Harbor Heiner Lectureship, Medscape, the Western Michigan School of Medicine, the Canadian Society of Allergy and Clinical Immunology, and the Pennsylvania Society for Allergy and Immunology. R. S. Gupta has consultant arrangements with BEFORE Brands and DBV Technologies; has received grants from the NIH, FARE, and Mylan LLC; has received payment for lectures from Grand Rounds; and has received royalties from Createspace Independent Publishing Platform. S. M. Jones is on the Research Advisory Board for FARE; is on the Scientific Advisory Board for Aimmune; has consultant arrangements with Stallergenes; has received grants from the NIH/ NIAID (Consortium of Food Allergy Research and Immune Tolerance Network-IMPACT Trial), FARE, Aimmune Technologies, DBV Technologies, and the National Peanut Board; has received payment for lectures from the Kansas City Allergy Society, Mercy Children's Hospital, Riley Children's Hospital, Southwester Medical School-Children's Medical Center, the European Academy of Allergy & Clinical Immunology, the New York Allergy & Asthma Society, the University of Iowa Paul M. Seebohm Lectureship in Allergy, and the Iowa Society of Allergy, Asthma, and Immunology. A.; Muraro has consultant arrangements with Meda, Novartis, and Menarini; is employed by Padua University Hospital; and has received payment for lectures from Meda and Menarini. L.J. Rosenwasser is a board member for the World Allergy Organization. H. A. Sampson has consultant arrangements with Allertein Therapeutics, Genentech/Roche, Sanofi, Stallergenes, Danone, and Merck; is employed part time as Chief Scientific Officer for DBV Technologies; has received grants from the NIAID and the Immune Tolerance Network; has received royalties from UpToDate and Elsevier; has been offered stock options in DBV Technologies; and is chairman of PhARF Award Selection Committee for Thermo Fisher. L. C. Schneider is on the Medical Advisory Board for FARE, has received a grant from DBV Technologies, and has received stock/stock options in Antera Therapeutics. S. H. Sicherer has received grants from the NIAID, FARE, and HAL Allergy; has received royalties from UpToDate; and is serving as Associate Editor for the Journal of Allergy and Clinical Immunology: In Practice. R. Sidbury has received travel support from the NIH and the Hawaii Dermatology Seminar, has consultant arrangements with Anacor, has provided expert witness testimony on behalf of Roche in Accutane-inflammatory bowel disease cases, has received a grant from Epidermolysis Bullosa Research Partnership, has received payment for lectures from the Taiwanese Dermatological Society, and has received royalties from UpToDate. J. Spergel has consultant arrangements with DBV Technologies and Danone; has received grants from DBV Technologies, Aimmune Therapeutics, and the NIH; has received payment for lectures for Dartmouth College, the ACAAI, and the Florida Allergy Society; and has received stock/stock options in DBV Technologies. D. R. Stukus has received payment for lectures from the ACAAI. C. Venter has consultant arrangements with Danone and Nestle, has received payment for lectures from Mead Johnson, and has received travel support from Thermo Fisher. The rest of the authors declare that they have no relevant conflicts of interest. NR 28 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1081-1206 EI 1534-4436 J9 ANN ALLERG ASTHMA IM JI Ann. Allergy Asthma Immunol. PD FEB PY 2017 VL 118 IS 2 BP 166 EP + DI 10.1016/j.anai.2016.10.004 PG 15 WC Allergy; Immunology SC Allergy; Immunology GA EP1OR UT WOS:000397154700009 PM 28065802 ER PT J AU Nathan, M Jacobs, ML Gaynor, JW Newburger, JW Masterson, CD Lambert, LM Hollenbeck-Pringle, D Trachtenberg, FL White, O Anderson, BR Bell, MC Burch, PT Graham, EM Kaltman, JR Kanter, KR Mery, CM Pizarro, C Schamberger, MS Taylor, MD Jacobs, JP Pasquali, SK AF Nathan, Meena Jacobs, Marshall L. Gaynor, J. William Newburger, Jane W. Masterson, Carolyn Dunbar Lambert, Linda M. Hollenbeck-Pringle, Danielle Trachtenberg, Felicia L. White, Owen Anderson, Brett R. Bell, Margaret C. Burch, Phillip T. Graham, Eric M. Kaltman, Jonathan R. Kanter, Kirk R. Mery, Carlos M. Pizarro, Christian Schamberger, Marcus S. Taylor, Michael D. Jacobs, Jeffrey P. Pasquali, Sara K. CA Pediat Heart Network Investigators TI Completeness and Accuracy of Local Clinical Registry Data for Children Undergoing Heart Surgery SO ANNALS OF THORACIC SURGERY LA English DT Article ID CARDIAC-DISEASE; OPPORTUNITIES; NOMENCLATURE; CONDUCT; TRIALS; PRIMER AB Background. Data routinely captured in clinical registries may be leveraged to enhance efficiency of prospective research. The quality of registry data for this purpose has not been studied, however. We evaluated the completeness and accuracy of perioperative data within congenital heart centers ' local surgical registries. Methods. Within 12 Pediatric Heart Network (PHN) sites, we evaluated 31 perioperative variables (and their subcategories, totaling 113 unique fields) collected via sites' local clinical registries for submission to The Society of Thoracic Surgeons Database, compared with chart review by PHN research coordinators. Both used standard STS definitions. Data were collected on 10 subjects for 2 to 5 procedures/site and adjudicated by the study team. Completeness and accuracy (agreement of registry data with medical record review by PHN coordinator, adjudicated by the study team) were evaluated. Results. A total of 56,500 data elements were collected on 500 subjects. With regard to data completeness, 3.1% of data elements were missing from the registry, 0.6% from coordinator-collected data, and 0.4% from both. Overall, registry data accuracy was 98%. In total, 94.7% of data elements were both complete/non-missing and accurate within the registry, although there was variation across data fields and sites. Mean total time for coordinator chart review per site was 49.1 hours versus 7.0 hours for registry query. Conclusions. This study suggests that existing surgical registry data constitute a complete, accurate, and efficient information source for prospective research. Variability across data fields and sites also suggest areas for improvement in some areas of data quality. (C) 2017 by The Society of Thoracic Surgeons C1 [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Harvard Med Sch, Boston Childrens Hosp, Dept Surg & Pediat, Dept Cardiac Surg & Cardiol, Boston, MA USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Johns Hopkins Sch Med, Div Cardiac Surg, Baltimore, MD USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Childrens Hosp Philadelphia, Div Cardiothorac Surg, Philadelphia, PA 19104 USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Univ Utah, Primary Childrens Hosp, Div Cardiothorac Surg, Salt Lake City, UT USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] New England Res Inst, Watertown, MA USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] CardioAccess Inc, Ft Lauderdale, FL USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Columbia Presbyterian Univ, Morgan Stanley Hosp, Dept Pediat, Div Pediat Cardiol, New York, NY USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Med Univ South Carolina, Div Pediat Cardiol, Charleston, SC 29425 USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Natl Heart Lung & Blood Inst, Div Cardiovasc Sci, Bethesda, MD USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Emory Univ, Sch Med, Div Cardiothorac Surg, Atlanta, GA USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Texas Childrens Hosp, Baylor Coll Med, Michael E DeBakey Dept Surg, Div Congenital Heart Surg, Houston, TX USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Alfred duPont Hosp Children, Div Pediat Cardiothorac Surg, Wilmington, DC USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Alfred duPont Hosp Children, Nemours Cardiac Ctr, Wilmington, DC USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Indiana Univ, Riley Hosp Children, Div Pediat Cardiol, Indianapolis, IN 46204 USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] Cincinatti Childrens Hosp, Med Ctr, Div Cardiol, Cincinnati, OH USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.] All Childrens Hosp & Florida Hosp Children, Hopkins All Childrens Heart Inst, Div Cardiol, St Petersburg, FL USA. [Nathan, Meena; Jacobs, Marshall L.; Gaynor, J. William; Newburger, Jane W.; Masterson, Carolyn Dunbar; Lambert, Linda M.; Hollenbeck-Pringle, Danielle; Trachtenberg, Felicia L.; White, Owen; Anderson, Brett R.; Bell, Margaret C.; Burch, Phillip T.; Graham, Eric M.; Kaltman, Jonathan R.; Kanter, Kirk R.; Mery, Carlos M.; Pizarro, Christian; Schamberger, Marcus S.; Taylor, Michael D.; Jacobs, Jeffrey P.; Pasquali, Sara K.; Pediat Heart Network Investigators] Univ Michigan, Sch Med, CS Mott Childrens Hosp, Dept Pediat & Communicable Dis, Ann Arbor, MI USA. RP Nathan, M (reprint author), Boston Childrens Hosp, Dept Cardiac Surg, 300 Longwood Ave, Boston, MA 02115 USA. EM meena.nathan@cardio.chboston.org FU National Heart, Lung, and Blood Institute (NHLBI) [HL068270, HL109816, HL109818, HL109778, HL109743, HL109737, HL109673, HL109781, HL109741]; K23 grant from the NHLB [HL119600]; KL2 grant from the NCATS [TR000081]; Janette Ferrantino Professorship FX This work was supported by the National Heart, Lung, and Blood Institute (NHLBI) (HL068270, HL109816, HL109818, HL109778, HL109743, HL109737, HL109673, HL109781, HL109741, HL068270). The views expressed in this paper represent those of the authors and not necessarily those of NHLBI or the National Institutes of Health. Dr Nathan is supported by a K23 grant (HL119600) from the NHLBI. Dr Anderson is supported by a KL2 grant (TR000081) from the NCATS. Dr Pasquali receives support from the Janette Ferrantino Professorship. The authors thank the registry data managers and PHN coordinators from the 12 sites for having been an integral part of the project. Without their support this project would not have been possible. NR 14 TC 2 Z9 2 U1 1 U2 1 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 0003-4975 EI 1552-6259 J9 ANN THORAC SURG JI Ann. Thorac. Surg. PD FEB PY 2017 VL 103 IS 2 BP 629 EP 636 DI 10.1016/j.athoracsur.2016.06.111 PG 8 WC Cardiac & Cardiovascular Systems; Respiratory System; Surgery SC Cardiovascular System & Cardiology; Respiratory System; Surgery GA EP1SU UT WOS:000397165400070 PM 27726857 ER PT J AU Zaccai, TCF Savitzki, D Zivony-Elboum, Y Vilboux, T Fitts, EC Shoval, Y Kalfon, L Samra, N Keren, Z Gross, B Chasnyk, N Straussberg, R Mullikin, JC Teer, JK Geiger, D Kornitzer, D Bitterman-Deutsch, O Samson, AO Wakamiya, M Peterson, JW Kirtley, ML Pinchuk, IV Baze, WB Gahl, WA Kleta, R Anikster, Y Chopra, AK AF Zaccai, Tzipora C. Falik Savitzki, David Zivony-Elboum, Yifat Vilboux, Thierry Fitts, Eric C. Shoval, Yishay Kalfon, Limor Samra, Nadra Keren, Zohar Gross, Bella Chasnyk, Natalia Straussberg, Rachel Mullikin, James C. Teer, Jamie K. Geiger, Dan Kornitzer, Daniel Bitterman-Deutsch, Ora Samson, Abraham O. Wakamiya, Maki Peterson, Johnny W. Kirtley, Michelle L. Pinchuk, Iryna V. Baze, Wallace B. Gahl, William A. Kleta, Robert Anikster, Yair Chopra, Ashok K. TI Phospholipase A(2)-activating protein is associated with a novel form of leukoencephalopathy SO BRAIN LA English DT Article DE phospholipase A(2)-activating protein (PLAA); progressive leukoencephalopathy; autosomal recessive; startle response; complex phospholipid defects ID MERZBACHER-LIKE-DISEASE; CENTRAL-NERVOUS-SYSTEM; ARACHIDONIC-ACID; FATTY-ACIDS; SEQUENCE; CATENIN; ACTIVATION; INHIBITION; DISORDERS; FAMILY AB Leukoencephalopathies are a group of white matter disorders related to abnormal formation, maintenance, and turnover of myelin in the central nervous system. These disorders of the brain are categorized according to neuroradiological and pathophysiological criteria. Herein, we have identified a unique form of leukoencephalopathy in seven patients presenting at ages 2 to 4 months with progressive microcephaly, spastic quadriparesis, and global developmental delay. Clinical, metabolic, and imaging characterization of seven patients followed by homozygosity mapping and linkage analysis were performed. Next generation sequencing, bioinformatics, and segregation analyses followed, to determine a loss of function sequence variation in the phospholipase A(2)-activating protein encoding gene (PLAA). Expression and functional studies of the encoded protein were performed and included measurement of prostaglandin E-2 and cytosolic phospholipase A(2) activity in membrane fractions of fibroblasts derived from patients and healthy controls. Plaa-null mice were generated and prostaglandin E-2 levels were measured in different tissues. The novel phenotype of our patients segregated with a homozygous loss-of-function sequence variant, causing the substitution of leucine at position 752 to phenylalanine, in PLAA, which causes disruption of the protein's ability to induce prostaglandin E-2 and cytosolic phospholipase A(2) synthesis in patients' fibroblasts. Plaa-null mice were perinatal lethal with reduced brain levels of prostaglandin E-2. The non-functional phospholipase A(2)-activating protein and the associated neurological phenotype, reported herein for the first time, join other complex phospholipid defects that cause leukoencephalopathies in humans, emphasizing the importance of this axis in white matter development and maintenance. C1 [Zaccai, Tzipora C. Falik; Zivony-Elboum, Yifat; Shoval, Yishay; Kalfon, Limor; Samra, Nadra; Keren, Zohar; Chasnyk, Natalia] Galilee Med Ctr, Inst Human Genet, POB 21, IL-22100 Nahariyya, Israel. [Zaccai, Tzipora C. Falik; Gross, Bella; Bitterman-Deutsch, Ora; Samson, Abraham O.] Bar Ilan Univ, Fac Med Galilee, Safed, Israel. [Savitzki, David] Galilee Med Ctr, Pediat Neurol Unit, Nahariyya, Israel. [Vilboux, Thierry; Gahl, William A.] NHGRI, Sect Human Biochem Genet, Med Genet Branch, NIH, Bethesda, MD 20892 USA. [Vilboux, Thierry] Inova Translat Med Inst, Div Med Genom, Inova Hlth Syst, Falls Church, VA USA. [Fitts, Eric C.; Peterson, Johnny W.; Kirtley, Michelle L.; Chopra, Ashok K.] Univ Texas Med Branch, Dept Microbiol & Immunol, Galveston, TX 77555 USA. [Gross, Bella] Galilee Med Ctr, Dept Neurol, Nahariyya, Israel. [Straussberg, Rachel] Schneider Childrens Med Ctr, Pediat Neurol Unit, Petah Tiqwa, Israel. [Straussberg, Rachel; Anikster, Yair] Tel Aviv Univ, Sackler Sch Med, Tel Aviv, Israel. [Mullikin, James C.] NHGRI, Comparat Genom Anal Unit, NIH, Bethesda, MD 20892 USA. [Mullikin, James C.] NHGRI, NIH, Intramural Sequencing Ctr, Rockville, MD USA. [Teer, Jamie K.] H Lee Moffitt Canc Ctr & Res Inst, Dept Biostat & Bioinformat, Tampa, FL USA. [Geiger, Dan] Technion Israel Inst Technol, Comp Sci, Haifa, Israel. [Kornitzer, Daniel] Technion IIT, Fac Med, Haifa, Israel. [Kornitzer, Daniel] Rappaport Inst Biomed Res, Haifa, Israel. [Bitterman-Deutsch, Ora] Galilee Med Ctr, Dermatol Clin, Nahariyya, Israel. [Wakamiya, Maki] Univ Texas Med Branch, Inst Translat Sci, Transgen Mouse Core Facil, Galveston, TX 77555 USA. [Wakamiya, Maki] Univ Texas Med Branch, Anim Resource Ctr, Galveston, TX 77555 USA. [Pinchuk, Iryna V.] Univ Texas Med Branch, Dept Internal Med, Galveston, TX 77555 USA. [Baze, Wallace B.] Univ Texas MD Anderson Canc Ctr, Dept Vet Sci, Bastrop, TX USA. [Kleta, Robert] Royal Free Hosp, UCL Med Sch, Univ Coll, London, England. [Anikster, Yair] Edmond & Lily Safra Childrens Hosp, Metab Dis Unit, Sheba Med Ctr, Tel Aviv, Israel. RP Zaccai, TCF (reprint author), Galilee Med Ctr, Inst Human Genet, POB 21, IL-22100 Nahariyya, Israel. EM falikmd.genetics@gmail.com FU Rappaport Faculty of Medicine, Technion, Haifa; 'Izvonot' foundation of the Israeli Ministry of Justice; Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA; Leon Bromberg Professorship for Excellence in Teaching and Robert E. Shope MD and John S. Dunn Distinguished Chair in Global Health FX This study was funded by the Rappaport Institute for Research (to T.F.Z.) by the Rappaport Faculty of Medicine, Technion, Haifa, and by the 'Izvonot' foundation of the Israeli Ministry of Justice (to T.F.Z.), Jerusalem, Israel. This research was supported by the Intramural Research Program of the National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA. Funding made available through the endowments of Leon Bromberg Professorship for Excellence in Teaching and Robert E. Shope MD and John S. Dunn Distinguished Chair in Global Health to A.K.C. is greatly acknowledged. NR 59 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 0006-8950 EI 1460-2156 J9 BRAIN JI Brain PD FEB PY 2017 VL 140 BP 370 EP 386 DI 10.1093/brain/aww295 PN 2 PG 17 WC Clinical Neurology; Neurosciences SC Neurosciences & Neurology GA EP3XV UT WOS:000397315900021 ER PT J AU Kim, EJ Bond, MR Nam, G Hanover, JA AF Kim, Eun J. Bond, Michelle R. Nam, Ghilsoo Hanover, John A. TI Evaluation of the Chemical Reporter Analog PNP-6AzGlcNAc as an O-GlcNAcase Substrate SO BULLETIN OF THE KOREAN CHEMICAL SOCIETY LA English DT Article DE Metabolic chemical reporter; O-GlcNAcase; O-GlcNAc; PNP-6AzGlcNAc ID BETA-N-ACETYLGLUCOSAMINIDASE; ALZHEIMERS-DISEASE; MODIFIED PROTEINS; LINKED GLCNAC; GLCNACYLATION; METABOLISM; TAU; PHOSPHORYLATION; STRESS; CELLS AB 6-Azido-6-deoxy-N-acetylglucosamine (6AzGlcNAc) was recently introduced as a new selective metabolic chemical reporter (MCR) for labeling O-GlcNAc-modified proteins in cells. To investigate whether O-6AzGlcNAc is readily cleaved by O-GlcNAcase (OGA), the enzyme responsible for removing the GlcNAc modification, we synthesized PNP-6AzGlcNAc. This analog mimics O-GlcNAc and can be used in vitro to define the kinetic parameters for OGA thereby defining whether O-6AzGlcNAc can be employed as an appropriate tool to monitor O-GlcNAc dynamics in cells. Both PNP-6AzGlcNAc and PNP-GlcNAc were efficiently hydrolyzed by OGA with similar kinetics suggesting that an azidomodification at the GlcNAc C6 position does not significantly interfere with the beta-hexosaminidase activity of OGA. C1 [Kim, Eun J.] Daegu Univ, Dept Sci Educ Chem Major, Gyeongbuk 712714, South Korea. [Bond, Michelle R.; Hanover, John A.] NIDDK, Lab Cell Biochem & Biol, NIH, Bethesda, MD 20892 USA. [Nam, Ghilsoo] Korea Inst Sci & Technol, Ctr Neuromed, Brain Sci Inst, Seoul 136791, South Korea. RP Hanover, JA (reprint author), NIDDK, Lab Cell Biochem & Biol, NIH, Bethesda, MD 20892 USA.; Nam, G (reprint author), Korea Inst Sci & Technol, Ctr Neuromed, Brain Sci Inst, Seoul 136791, South Korea. EM gsnam@kist.re.kr; jah@helix.nih.gov FU National Institute of Health; USA and Brain Research Program through the National Research Foundation of Korea (NRF) - Ministry of Science, ICT & Future Planning [NRF2016M3C7A1913845] FX This research was financially supported by the intramural program of the National Institute of Health Grants, USA and Brain Research Program through the National Research Foundation of Korea (NRF) funded by the Ministry of Science, ICT & Future Planning (NRF2016M3C7A1913845). We thank Dr. John R. Lloyd for obtaining the mass spectral data. NR 37 TC 0 Z9 0 U1 1 U2 1 PU WILEY-V C H VERLAG GMBH PI WEINHEIM PA POSTFACH 101161, 69451 WEINHEIM, GERMANY SN 1229-5949 J9 B KOREAN CHEM SOC JI Bull. Korean Chem. Soc. PD FEB PY 2017 VL 38 IS 2 BP 264 EP 270 DI 10.1002/bkcs.11076 PG 7 WC Chemistry, Multidisciplinary SC Chemistry GA EO7YZ UT WOS:000396907300017 ER PT J AU Panackal, AA Komori, M Kosa, P Khan, O Hammoud, DA Rosen, LB Browne, SK Lin, YC Romm, E Ramaprasad, C Fries, BC Bennett, JE Bielekova, B Williamson, PR AF Panackal, Anil A. Komori, Mika Kosa, Peter Khan, Omar Hammoud, Dima A. Rosen, Lindsey B. Browne, Sarah K. Lin, Yen-Chih Romm, Elena Ramaprasad, Charu Fries, Bettina C. Bennett, John E. Bielekova, Bibiana Williamson, Peter R. TI Spinal Arachnoiditis as a Complication of Cryptococcal Meningoencephalitis in Non-HIV Previously Healthy Adults SO CLINICAL INFECTIOUS DISEASES LA English DT Article DE Cryptococcus; cauda equina/conus syndromes; meningoencephalitis; spinal arachnoiditis; pulse corticosteroids ID PROGRESSIVE MULTIPLE-SCLEROSIS; DAMAGE-RESPONSE FRAMEWORK; SURROGATE END-POINTS; ADJUNCTIVE DEXAMETHASONE; MICROBIAL PATHOGENESIS; INFECTIOUS-DISEASES; CLINICAL-TRIALS; MENINGITIS; DETERMINANTS; OUTCOMES AB Background. Cryptococcus can cause meningoencephalitis (CM) among previously healthy non-HIV adults. Spinal arachnoiditis is under-recognized, since diagnosis is difficult with concomitant central nervous system (CNS) pathology. Methods. We describe 6 cases of spinal arachnoiditis among 26 consecutively recruited CM patients with normal CD4 counts who achieved microbiologic control. We performed detailed neurological exams, cerebrospinal fluid (CSF) immunophenotyping and biomarker analysis before and after adjunctive immunomodulatory intervention with high dose pulse corticosteroids, affording causal inference into pathophysiology. Results. All 6 exhibited severe lower motor neuron involvement in addition to cognitive changes and gait disturbances from meningoencephalitis. Spinal involvement was associated with asymmetric weakness and urinary retention. Diagnostic specificity was improved by MRI imaging which demonstrated lumbar spinal nerve root enhancement and clumping or lesions. Despite negative fungal cultures, CSF inflammatory biomarkers, sCD27 and sCD21, as well as the neuronal damage biomarker, neurofilament light chain (NFL), were elevated compared to healthy donor (HD) controls. Elevations in these biomarkers were associated with clinical symptoms and showed improvement with adjunctive high dose pulse corticosteroids. Conclusions. These data suggest that a post-infectious spinal arachnoiditis is an important complication of CM in previously healthy individuals, requiring heightened clinician awareness. Despite microbiological control, this syndrome causes significant pathology likely due to increased inflammation and may be amenable to suppressive therapeutics. C1 [Panackal, Anil A.; Rosen, Lindsey B.; Browne, Sarah K.; Bennett, John E.; Williamson, Peter R.] NIH, NIAID, Lab Clin Infect Dis LCID, Bethesda, MD USA. [Panackal, Anil A.; Bennett, John E.] Uniformed Serv Univ Hlth Sci USUHS, Hebert Sch Med, Dept Med, Div Infect Dis, Bethesda, MD USA. [Komori, Mika; Kosa, Peter; Lin, Yen-Chih; Romm, Elena; Bielekova, Bibiana] NIH, Natl Inst Neurol Dis & Stroke NINDS, Neuroimmunol Branch, Neuroimmunol Dis Unit, Bethesda, MD USA. [Khan, Omar] NIH, NINDS, Neurol Consult Serv, Bethesda, MD USA. [Hammoud, Dima A.] NIH Clin Ctr, Ctr Infect Dis Imaging, Radiol & Imaging Sci, Bethesda, MD USA. [Ramaprasad, Charu] Kaiser San Jose Med Ctr, Infectious Dis Kaiser, San Jose, CA USA. [Fries, Bettina C.] SUNY Stony Brook, Div Infect Dis, Stony Brook, NY USA. [Browne, Sarah K.] Food & Drug Adm, Ctr Biol Evaluat & Res, Div Vaccines & Related Product Applicat, Silver Spring, MD USA. RP Panackal, AA (reprint author), NIH, NIAID, LCID DIR, Staff Clin, Bldg 10,Rm 11N222,MSC 1888, Bethesda, MD 20892 USA. EM anil.panackal@nih.gov FU National Institute of Allergy and Infectious Diseases (NIAID) [AI001123-01, AI001124-01]; National Institute of Neurological Diseases and Stroke at the National Institutes of Health (NIH); Intramural Research Program of the NIAID; [U01 AI109657] FX This research was supported by extramural grants AI001123-01 and AI001124-01 from the National Institute of Allergy and Infectious Diseases (NIAID) and the National Institute of Neurological Diseases and Stroke at the National Institutes of Health (NIH), and by the Intramural Research Program of the NIAID. Funding support was also obtained via U01 AI109657. NR 40 TC 0 Z9 0 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD FEB 1 PY 2017 VL 64 IS 3 BP 275 EP 283 DI 10.1093/cid/ciw739 PG 9 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA EP3RQ UT WOS:000397299800014 PM 28011613 ER PT J AU Havens, PL Stephensen, CB Van Loan, MD Schuster, GU Woodhouse, LR Flynn, PM Gordon, CM Pan, CG Rutledge, B Liu, N Wilson, CM Hazra, R Hosek, SG Anderson, PL Seifert, SM Kapogiannis, BG Mulligan, K AF Havens, Peter L. Stephensen, Charles B. Van Loan, Marta D. Schuster, Gertrud U. Woodhouse, Leslie R. Flynn, Patricia M. Gordon, Catherine M. Pan, Cynthia G. Rutledge, Brandy Liu, Nancy Wilson, Craig M. Hazra, Rohan Hosek, Sybil G. Anderson, Peter L. Seifert, Sharon M. Kapogiannis, Bill G. Mulligan, Kathleen CA Adolescent Med Trials Network HIV TI Decline in Bone Mass With Tenofovir Disoproxil Fumarate/Emtricitabine Is Associated With Hormonal Changes in the Absence of Renal Impairment When Used by HIV-Uninfected Adolescent Boys and Young Men for HIV Preexposure Prophylaxis SO CLINICAL INFECTIOUS DISEASES LA English DT Article DE tenofovir disoproxil fumarate; bone mineral density; parathyroid hormone; fibroblast growth factor 23; HIV pre-exposure prophylaxis ID VITAMIN-D DEFICIENCY; ANTIRETROVIRAL THERAPY INITIATION; PLACEBO-CONTROLLED TRIAL; DRIED BLOOD SPOTS; D-BINDING PROTEIN; GROWTH-FACTOR 23; MINERAL DENSITY; INFECTED PATIENTS; PARATHYROID-HORMONE; FUMARATE USE AB Background. We aimed to define the relative importance of renal and endocrine changes in tenofovir disoproxil fumarate (TDF)-related bone toxicity. Methods. In a study of daily TDF/emtricitabine (FTC) preexposure prophylaxis (PrEP) in human immunodeficiency virus (HIV)-uninfected young men who have sex with men, we measured changes from baseline in blood and urine markers of the parathyroid hormone (PTH)-vitamin D-fibroblast growth factor 23 (FGF23) axis, creatinine, and renal tubular reabsorption of phosphate (TRP). We explored the relationship of those variables to changes in bone mineral density (BMD). Tenofovir-diphosphate (TFV-DP) in red blood cells was used to categorize participants into high and low drug exposure groups. Results. There were 101 participants, median age 20 years (range 15 to 22). Compared with low drug exposure, high-exposure participants showed increase from baseline in PTH and decline in FGF23 by study week 4, with no differences in creatinine, phosphate, or TRP. At 48 weeks, the median (interquartile range) percent decline in total hip BMD was greater in those with high-compared to low-exposure (-1.59 [2.77] vs +1.54 [3.34] %, respectively; P = .001); in high-exposure participants, this correlated with week 4 TFV-DP (inversely; r = -0.60, P = .002) and FGF23 (directly; r = 0.42; P = .039) but not other variables. Conclusions. These findings support the short-term renal safety of TDF/FTC PrEP in HIV-seronegative young men and suggest that endocrine disruption (PTH-FGF23) is a primary contributor to TDF-associated BMD decline in this age group. C1 [Havens, Peter L.; Pan, Cynthia G.] Childrens Hosp Wisconsin, Med Coll Wisconsin, Dept Pediat, Milwaukee, WI 53226 USA. [Stephensen, Charles B.; Van Loan, Marta D.; Woodhouse, Leslie R.] Univ Calif Davis, USDA, Western Human Nutr Res Ctr, Agr Res Serv, Davis, CA USA. [Schuster, Gertrud U.] Univ Calif Davis, Dept Nutr, Davis, CA USA. [Flynn, Patricia M.] St Jude Childrens Res Hosp, Dept Infect Dis, Memphis, TN USA. [Gordon, Catherine M.] Univ Cincinnati, Cincinnati Childrens Hosp Med Ctr, Coll Med, Dept Pediat, Cincinnati, OH USA. [Rutledge, Brandy; Liu, Nancy] Westat Corp, Rockville, MD USA. [Wilson, Craig M.] Univ Alabama, Dept Epidemiol, Birmingham, W Midlands, England. [Hazra, Rohan; Kapogiannis, Bill G.] Eunice Kennedy Shriver Natl Inst Child Hlth & Hum, Maternal & Pediat Infect Dis Branch, Bethesda, MD USA. [Hosek, Sybil G.] John H Stroger Jr Hosp Cook Cty, Dept Psychiat, Chicago, IL USA. [Anderson, Peter L.; Seifert, Sharon M.] Univ Colorado, Dept Pharmaceut Sci, Anschutz Med Campus, Aurora, CO USA. [Mulligan, Kathleen] Univ Calif San Francisco, Zuckerberg San Francisco Gen Hosp, Dept Med, Div Endocrinol, San Francisco, CA USA. RP Havens, PL (reprint author), Suite C450,POB 1997, Milwaukee, WI 53201 USA. EM pha-vens@mcw.edu FU ATN from the National Institutes of Health through National Institute of Child Health and Human Development [U01 HD 040533, U01 HD 040474]; National Institutes on Drug Abuse and Mental Health; ATN Coordinating Center at the University of Alabama at Birmingham; Gilead Sciences, Inc., Foster City, California FX This work was supported by ATN from the National Institutes of Health (U01 HD 040533 and U01 HD 040474) through the National Institute of Child Health and Human Development (to B. Kapogiannis), with supplemental funding from the National Institutes on Drug Abuse (to S. Kahana) and Mental Health (to P. Brouwers and S. Allison). The study was scientifically reviewed by the ATN's Therapeutic Leadership Group. Network, scientific, and logistical support was provided by the ATN Coordinating Center (C. Wilson, C. Partlow) at the University of Alabama at Birmingham. Network operations and analytic support was provided by the ATN Data and Operations Center at Westat, Inc. (B. Harris, B. Driver). The comments and views of the authors do not necessarily represent the views of the Eunice Kennedy Shriver National Institute of Child Health and Human Development. Study medication and partial funding were supplied by Gilead Sciences, Inc., Foster City, California. NR 40 TC 0 Z9 0 U1 1 U2 1 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 1058-4838 EI 1537-6591 J9 CLIN INFECT DIS JI Clin. Infect. Dis. PD FEB 1 PY 2017 VL 64 IS 3 BP 317 EP 325 DI 10.1093/cid/ciw765 PG 9 WC Immunology; Infectious Diseases; Microbiology SC Immunology; Infectious Diseases; Microbiology GA EP3RQ UT WOS:000397299800020 PM 28013265 ER PT J AU Nee, R Yuan, CM Hurst, FP Jindal, RM Agodoa, LY Abbott, KC AF Nee, Robert Yuan, Christina M. Hurst, Frank P. Jindal, Rahul M. Agodoa, Lawrence Y. Abbott, Kevin C. TI Y Impact of poverty and race on pre-end-stage renal disease care among dialysis patients in the United States SO CLINICAL KIDNEY JOURNAL LA English DT Article DE end-stage renal disease; poverty; pre-ESRD care; racial disparities ID CHRONIC KIDNEY-DISEASE; HEMODIALYSIS-PATIENTS; REPLACEMENT THERAPY; NEPHROLOGIST CARE; PREDIALYSIS CARE; ACCESS; MORTALITY; OUTCOMES; TRANSPLANTATION; MANAGEMENT AB Background: Access to nephrology care prior to end-stage renal disease (ESRD) is significantly associated with lower rates of morbidity and mortality. We assessed the association of area-level and individual-level indicators of poverty and race/ethnicity on pre-ESRD care provided by nephrologists. Methods: In this retrospective cohort study using the US Renal Data System database, we identified 739 537 patients initiated on maintenance dialysis from 1 January 2007 through 31 December 2012. We assessed the Medicare-Medicaid dual eligibility status as an indicator of individual-level poverty and ZIP code-level median household income (MHI) data obtained from the 2010 US census. We conducted multivariable logistic regression of pre-ESRD nephrology care as the outcome variable. Results: Among patients in the lowest area-level MHI quintile, 61.28% received pre-ESRD nephrology care versus 67.68% among those in higher quintiles (P < 0.001). Similarly, the proportions of dual-eligible and nondual-eligible patients who had pre-ESRD nephrology care were 61.49 and 69.84%, respectively (P < 0.001). Patients in the lowest area-level MHI quintile were associated with significantly lower likelihood of pre-ESRD nephrology care (adjusted odds ratio [aOR] 0.86 [95% confidence interval (CI) 0.85-0.87]) compared with those in higher quintiles. Both African American (AA) and Hispanic patients were significantly less likely to have received pre-ESRD nephrology care [aOR 0.85 (95% CI 0.84-0.86) and aOR 0.72 (95% CI 0.71-0.74), respectively]. Conclusions: Individual-and area-level measures of poverty, AA race and Hispanic ethnicity were independently associated with a lower likelihood of pre-ESRD nephrology care. Efforts to improve pre-ESRD nephrology care may require focusing on the poor and minority groups. C1 [Nee, Robert; Yuan, Christina M.] Walter Reed Natl Mil Med Ctr, Dept Nephrol, 8901 Wisconsin Ave, Bethesda, MD 20889 USA. [Hurst, Frank P.] Uniformed Serv Univ Hlth Sci, Dept Med, Room A3060, Bethesda, MD 20814 USA. [Jindal, Rahul M.] Uniformed Serv Univ Hlth Sci, USU Walter Reed Dept Surg, Bethesda, MD 20814 USA. [Agodoa, Lawrence Y.; Abbott, Kevin C.] NIDDK, NIH, Bethesda, MD 20892 USA. RP Nee, R (reprint author), Walter Reed Natl Mil Med Ctr, Dept Nephrol, 8901 Wisconsin Ave, Bethesda, MD 20889 USA. EM robert.nee.civ@mail.mil NR 36 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS PI OXFORD PA GREAT CLARENDON ST, OXFORD OX2 6DP, ENGLAND SN 1753-0784 EI 1753-0792 J9 CLIN KIDNEY J JI Clin. Kidney J. PD FEB PY 2017 VL 10 IS 1 BP 55 EP 61 DI 10.1093/ckj/sfw098 PG 7 WC Urology & Nephrology SC Urology & Nephrology GA EP3FH UT WOS:000397267700010 ER PT J AU Zhang, YE AF Zhang, Ying E. TI Non-Smad Signaling Pathways of the TGF-beta Family SO COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY LA English DT Article ID GROWTH-FACTOR-BETA; ACTIVATED PROTEIN-KINASE; EPITHELIAL-MESENCHYMAL TRANSITION; NF-KAPPA-B; P38 MAP KINASE; BONE MORPHOGENETIC PROTEIN-2; PROSTATE-CANCER CELLS; I RECEPTOR; TRANSFORMING GROWTH-FACTOR-BETA-1; PHOSPHATIDYLINOSITOL 3-KINASE AB Transforming growth factor beta(TGF-beta) and structurally related factors use several intracellular signaling pathways in addition to Smad signaling to regulate a wide array of cellular functions. These non-Smad signaling pathways are activated directly by ligand-occupied receptors to reinforce, attenuate, or otherwise modulate downstream cellular responses. This review summarizes the current knowledge of the mechanisms by which non-Smad signaling pathways are directly activated in response to ligand binding, how activation of these pathways impinges on Smads and non-Smad targets, and how final cellular responses are affected in response to these noncanonical signaling modes. C1 [Zhang, Ying E.] NCI, Lab Cellular & Mol Biol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. RP Zhang, YE (reprint author), NCI, Lab Cellular & Mol Biol, Ctr Canc Res, NIH, Bethesda, MD 20892 USA. EM zhangyin@mail.nih.gov FU National Institutes of Health; National Cancer Institute; Center for Cancer Research FX Research in Y. E. Zhang's laboratory is supported by an intramural program of the National Institutes of Health, National Cancer Institute, Center for Cancer Research. NR 152 TC 1 Z9 1 U1 0 U2 0 PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT PI COLD SPRING HARBOR PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA SN 1943-0264 J9 CSH PERSPECT BIOL JI Cold Spring Harbor Perspect. Biol. PD FEB PY 2017 VL 9 IS 2 AR a022129 DI 10.1101/cshperspect.a022129 PG 18 WC Cell Biology SC Cell Biology GA EO9VE UT WOS:000397035400003 ER PT J AU Fortunato, A Boddy, A Mallo, D Aktipis, A Maley, CC Pepper, JW AF Fortunato, Angelo Boddy, Amy Mallo, Diego Aktipis, Athena Maley, Carlo C. Pepper, John W. TI Natural Selection in Cancer Biology: From Molecular Snowflakes to Trait Hallmarks SO COLD SPRING HARBOR PERSPECTIVES IN MEDICINE LA English DT Article ID COPY NUMBER ALTERATION; STEM-CELLS; ESOPHAGEAL ADENOCARCINOMA; BARRETTS-ESOPHAGUS; COLORECTAL-CANCER; DRUG-RESISTANCE; PROSTATE-CANCER; BREAST-CANCER; ADAPTATIONIST PROGRAM; HORIZONTAL TRANSFER AB Evolution by natural selection is the conceptual foundation for nearly every branch of biology and increasingly also for biomedicine and medical research. In cancer biology, evolution explains how populations of cells in tumors change over time. It is a fundamental question whether this evolutionary process is driven primarily by natural selection and adaptation or by other evolutionary processes such as founder effects and drift. In cancer biology, as in organismal evolutionary biology, there is controversy about this question and also about the use of adaptation through natural selection as a guiding framework for research. In this review, we discuss the differences and similarities between evolution among somatic cells versus evolution among organisms. We review what is known about the parameters and rate of evolution in neoplasms, as well as evidence for adaptation. We conclude that adaptation is a useful framework that accurately explains the defining characteristics of cancer. Further, convergent evolution through natural selection provides the only satisfying explanation both for how a group of diverse pathologies have enough in common to usefully share the descriptive label of "cancer" and for why this convergent condition becomes life-threatening. C1 [Fortunato, Angelo; Mallo, Diego; Maley, Carlo C.] Arizona State Univ, Biodesign Ctr Personalized Diagnost, Tempe, AZ 85287 USA. [Fortunato, Angelo; Mallo, Diego; Maley, Carlo C.] Arizona State Univ, Sch Life Sci, Tempe, AZ 85287 USA. [Boddy, Amy; Aktipis, Athena] Arizona State Univ, Dept Psychol, Tempe, AZ 85287 USA. [Aktipis, Athena] Arizona State Univ, Biodesign Ctr Evolut & Med, Tempe, AZ 85287 USA. [Maley, Carlo C.] Inst Canc Res, Ctr Evolut & Canc, London SM2 5NG, England. [Pepper, John W.] NCI, Biometry Res Grp, Canc Prevent Div, Rockville, MD 20850 USA. [Pepper, John W.] Santa Fe Inst, Santa Fe, NM 87501 USA. RP Maley, CC (reprint author), Arizona State Univ, Biodesign Ctr Personalized Diagnost, Tempe, AZ 85287 USA.; Maley, CC (reprint author), Arizona State Univ, Sch Life Sci, Tempe, AZ 85287 USA.; Maley, CC (reprint author), Inst Canc Res, Ctr Evolut & Canc, London SM2 5NG, England.; Pepper, JW (reprint author), NCI, Biometry Res Grp, Canc Prevent Div, Rockville, MD 20850 USA.; Pepper, JW (reprint author), Santa Fe Inst, Santa Fe, NM 87501 USA. EM maley@asu.edu; pepperjw@mail.nih.gov FU National Institutes of Health (NIH) [P01 CA91955, R01 CA149566, R01 CA170595, R01 CA185138, R01 CA140657]; CDMRP Breast Cancer Research Program Award [BC132057]; National Cancer Institute (NCI) FX This work is supported in part by National Institutes of Health (NIH) Grants P01 CA91955, R01 CA149566, R01 CA170595, R01 CA185138, and R01 CA140657, as well as CDMRP Breast Cancer Research Program Award BC132057. J.W. P is supported as an employee of the National Cancer Institute (NCI). NR 104 TC 0 Z9 0 U1 1 U2 1 PU COLD SPRING HARBOR LAB PRESS, PUBLICATIONS DEPT PI COLD SPRING HARBOR PA 1 BUNGTOWN RD, COLD SPRING HARBOR, NY 11724 USA SN 2157-1422 J9 CSH PERSPECT MED JI Cold Spring Harb. Perspect. Med. PD FEB PY 2017 VL 7 IS 2 AR a029652 DI 10.1101/cshperspect.a029652 PG 14 WC Medicine, Research & Experimental SC Research & Experimental Medicine GA EP0CV UT WOS:000397055300008 ER PT J AU Constable, PA Bach, M Frishman, LJ Jeffrey, BG Robson, AG AF Constable, Paul A. Bach, Michael Frishman, Laura J. Jeffrey, Brett G. Robson, Anthony G. TI ISCEV Standard for clinical electro-oculography (2017 update) SO DOCUMENTA OPHTHALMOLOGICA LA English DT Article DE ISCEV Standards; Clinical electrophysiology; Electro-oculogram (EOG); Arden ratio; Light peak: dark trough ratio; Light adaptation; Retinal pigment epithelium (RPE); Fast oscillation (FO) AB The clinical electro-oculogram (EOG) is an electrophysiological test of the outer retina and retinal pigment epithelium (RPE) in which changes in the electrical potential across the RPE are recorded during successive periods of dark and light adaptation. This document presents the 2017 EOG Standard from the International Society for Clinical Electrophysiology of Vision (ISCEV:www.iscev.org). This standard has been reorganized and updated to include an explanation of the mechanism of the EOG, but without substantive changes to the testing protocol from the previous version published in 2011. It describes methods for recording the EOG in clinical applications and gives detailed guidance on technical requirements, practical issues and reporting of results with the main clinical measure (the Arden ratio) now termed the light peak: dark trough ratio. The standard is intended to promote consistent quality of testing and reporting within and between clinical centers. C1 [Constable, Paul A.] Flinders Univ S Australia, Discipline Optometry & Vis Sci, Adelaide, SA, Australia. [Bach, Michael] Univ Med Ctr Freiburg, Dept Ophthalmol, Freiburg, Germany. [Frishman, Laura J.] Univ Houston, Coll Optometry, Houston, TX 77004 USA. [Jeffrey, Brett G.] NEI, Ophthalm Genet & Visual Funct Branch, Bethesda, MD 20892 USA. [Robson, Anthony G.] UCL, Inst Ophthalmol, London, England. [Robson, Anthony G.] Moorfields Eye Hosp, London, England. RP Constable, PA (reprint author), Flinders Univ S Australia, Discipline Optometry & Vis Sci, Adelaide, SA, Australia. EM paul.constable@flinders.edu.au OI constable , paul/0000-0002-3994-1700 NR 7 TC 0 Z9 0 U1 0 U2 0 PU SPRINGER PI DORDRECHT PA VAN GODEWIJCKSTRAAT 30, 3311 GZ DORDRECHT, NETHERLANDS SN 0012-4486 EI 1573-2622 J9 DOC OPHTHALMOL JI Doc. Ophthalmol. PD FEB PY 2017 VL 134 IS 1 BP 1 EP 9 DI 10.1007/s10633-017-9573-2 PG 9 WC Ophthalmology SC Ophthalmology GA EP2FQ UT WOS:000397199000001 PM 28110380 ER PT J AU Cservenak, M Keller, D Kis, V Fazekas, EA Ollos, H Leko, AH Szabo, ER Renner, E Usdin, TB Palkovits, M Dobolyi, A AF Cservenak, Melinda Keller, David Kis, Viktor Fazekas, Emese A. Oelloes, Hanna Leko, Andras H. Szabo, Eva R. Renner, Eva Usdin, Ted B. Palkovits, Miklos Dobolyi, Arpad TI A Thalamo-Hypothalamic Pathway That Activates Oxytocin Neurons in Social Contexts in Female Rats SO ENDOCRINOLOGY LA English DT Article ID TUBEROINFUNDIBULAR PEPTIDE; PARAVENTRICULAR NUCLEUS; 39 RESIDUES; MILK-EJECTION; MATERNAL FUNCTIONS; FOS EXPRESSION; LACTATING RAT; BRAIN; CONNECTIONS; RETROGRADE AB Oxytocin is released from neurons in the paraventricular hypothalamic nucleus (PVN) in mothers upon suckling and during adult social interactions. However, neuronal pathways that activate oxytocin neurons in social contexts are not yet established. Neurons in the posterior intralaminar complex of the thalamus (PIL), which contain tuberoinfundibular peptide 39 (TIP39) and are activated by pup exposure in lactating mothers, provide a candidate projection. Innervation of oxytocin neurons by TIP39 neurons was examined by double labeling in combination with electron microscopy and retrograde tract-tracing. Potential classic neurotransmitters in TIP39 neurons were investigated by in situ hybridization histochemistry. Neurons activated after encounter with a familiar conspecific female in a familiar environment were mapped with the c-Fos technique. PVN and the supraoptic nucleus oxytocin neurons were closely apposed by an average of 2.0 and 0.4 TIP39 terminals, respectively. Asymmetric (presumed excitatory) synapses were found between TIP39 terminals and cell bodies of oxytocin neurons. In lactating rats, PIL TIP39 neurons were retrogradely labeled from the PVN. TIP39 neurons expressed vesicular glutamate transporter 2 but not glutamic acid decarboxylase 67. PIL contained a markedly increased number of c-Fos-positive neurons in response to social encounter with a familiar conspecific female. Furthermore, the PIL received ascending input from the spinal cord and the inferior colliculus. Thus, TIP39 neurons in the PIL may receive sensory input in response to social interactions and project to the PVN to innervate and excite oxytocin neurons, suggesting that the PIL-PVN projection contributes to the activation of oxytocin neurons in social contexts. C1 [Cservenak, Melinda; Keller, David; Kis, Viktor; Fazekas, Emese A.; Oelloes, Hanna; Szabo, Eva R.; Dobolyi, Arpad] Hungarian Acad Sci & Eotvos Lorand Univ, Dept Physiol & Neurobiol, MTA ELTE NAP B Lab Mol & Syst Neurobiol, H-1117 Budapest, Hungary. [Cservenak, Melinda; Keller, David; Leko, Andras H.; Szabo, Eva R.; Dobolyi, Arpad] Semmelweis Univ, Neuromorphol Lab, H-1094 Budapest, Hungary. [Szabo, Eva R.; Palkovits, Miklos] Semmelweis Univ, Dept Anat Histol & Embryol, MTA SE NAP Human Brain Tissue Bank Microdissect, H-1094 Budapest, Hungary. [Kis, Viktor] Eotvos Lorand Univ, Inst Biol, Dept Anat Cell & Dev Biol, H-1117 Budapest, Hungary. [Fazekas, Emese A.] Eotvos Lorand Univ, Dept Ethol, H-1117 Budapest, Hungary. [Usdin, Ted B.] Natl Inst Mental Hlth, Sect Fundamental Neurosci, Bethesda, MD 20892 USA. RP Dobolyi, A (reprint author), Hungarian Acad Sci & Eotvos Lorand Univ, Dept Physiol & Neurobiol, MTA ELTE NAP B Lab Mol & Syst Neurobiol, H-1117 Budapest, Hungary. EM dobolyia@caesar.elte.hu FU Postdoctoral Research Fellowship Program of the Hungarian Academy of Sciences; New National Excellence Program of the Ministry of Human Capacities [OTKA K116538, KTIA_NAP_B_13-22014-0004]; National Institute of Mental Health Intramural Research Program Grant [ZIAMH002685] FX This work was supported by the Postdoctoral Research Fellowship Program of the Hungarian Academy of Sciences ( toM. C.), the New National Excellence Program of the Ministry of Human Capacities (to D. K.), OTKA K116538 and KTIA_NAP_B_13-22014-0004 research grants (to A. D.), and National Institute of Mental Health Intramural Research Program Grant ZIAMH002685 (to T. B. U.). NR 59 TC 1 Z9 1 U1 1 U2 1 PU ENDOCRINE SOC PI WASHINGTON PA 2055 L ST NW, SUITE 600, WASHINGTON, DC 20036 USA SN 0013-7227 EI 1945-7170 J9 ENDOCRINOLOGY JI Endocrinology PD FEB PY 2017 VL 158 IS 2 BP 335 EP 348 DI 10.1210/en.2016-1645 PG 14 WC Endocrinology & Metabolism SC Endocrinology & Metabolism GA EP0UH UT WOS:000397101700015 PM 27841935 ER PT J AU Zhang, J Song, XH Ma, MJ Xiao, L Kenri, T Sun, HM Ptacek, T Li, SL Waites, KB Atkinson, TP Shibayama, K Dybvig, K Feng, YM AF Zhang, Jing Song, Xiaohong Ma, Marella J. Xiao, Li Kenri, Tsuyoshi Sun, Hongmei Ptacek, Travis Li, Shaoli Waites, Ken B. Atkinson, T. Prescott Shibayama, Keigo Dybvig, Kevin Feng, Yanmei TI Inter- and intra-strain variability of tandem repeats in Mycoplasma pneumoniae based on next-generation sequencing data SO FUTURE MICROBIOLOGY LA English DT Article DE Mycoplasma pneumoniae; next-generation sequencing; tandem repeats ID SINGLE-NUCLEOTIDE POLYMORPHISMS; HOMOLOGOUS DNA RECOMBINATION; GENITALIUM STRAINS; DELETION MUTATIONS; CLINICAL SPECIMENS; RELATIVE RATES; GENOME; EPIDEMIOLOGY; ELEMENTS; GENE AB Aim: To characterize inter-and intra-strain variability of variable-number tandem repeats (VNTRs) in Mycoplasma pneumoniae to determine the optimal multilocus VNTR analysis scheme for improved strain typing. Methods: Whole genome assemblies and next-generation sequencing data from diverse M. pneumoniae isolates were used to characterize VNTRs and their variability, and to compare the strain discriminability of new VNTR and existing markers. Results: We identified 13 VNTRs including five reported previously. These VNTRs displayed different levels of inter-and intra-strain copy number variations. All new markers showed similar or higher discriminability compared with existing VNTR markers and the P1 typing system. Conclusion: Our study provides novel insights into VNTR variations and potential new multilocus VNTR analysis schemes for improved genotyping of M. pneumoniae. C1 [Zhang, Jing] Chongqing Med Univ, Dept Pathogen Biol, Chongqing, Peoples R China. [Zhang, Jing; Song, Xiaohong] NIH, Dept Crit Care Med, Ctr Clin, Bethesda, MD 20892 USA. [Song, Xiaohong] Sichuan Univ, Dept Pharmacol, Chengdu, Sichuan, Peoples R China. [Ma, Marella J.] Winston Churchill High Sch, Potomac, MD USA. [Xiao, Li] Univ Alabama Birmingham, Dept Med, Birmingham, AL 35294 USA. [Kenri, Tsuyoshi; Shibayama, Keigo] Natl Inst Infect Dis, Dept Bacteriol 2, Tokyo, Japan. [Sun, Hongmei; Li, Shaoli] Capital Inst Pediat, Dept Bacteriol, Beijing, Peoples R China. [Ptacek, Travis; Dybvig, Kevin] Univ Alabama Birmingham, Dept Microbiol, Birmingham, AL 35294 USA. [Waites, Ken B.] Univ Alabama Birmingham, Dept Pathol, Birmingham, AL 35294 USA. [Atkinson, T. Prescott] Univ Alabama Birmingham, Dept Pediat, Birmingham, AL 35294 USA. [Feng, Yanmei] Chongqing Med Univ, Affiliated Hosp 1, Dept Pulm Med, Chongqing, Peoples R China. RP Zhang, J (reprint author), Chongqing Med Univ, Dept Pathogen Biol, Chongqing, Peoples R China.; Zhang, J (reprint author), NIH, Dept Crit Care Med, Ctr Clin, Bethesda, MD 20892 USA. EM zhangjingcq@hotmail.com FU Intramural Research Program of the US NIH Clinical Center; NIH Clinical and Translational Science [UL1TR001417]; NIH [R01AI63909]; Ministry of Health, Labor, and Welfare of Japan [H26-Kokui-Shitei-001]; Natural Science Foundation of Beijing Municipality, Beijing, China [7152025]; Chongqing Medical University (Chongqing, China); China Scholarship Council; [20018029]; [15H01337] FX This study was supported in part by the Intramural Research Program of the US NIH Clinical Center; the NIH Clinical and Translational Science Award (grant UL1TR001417 to T Ptacek); the NIH grant (R01AI63909 to K Dybvig); the Ministry of Health, Labor, and Welfare of Japan (grant (H26-Kokui-Shitei-001 to K Shibayama); the Grant-in Aid for Scientific Research from the Ministry of Education, Culture, Sports, Science, and Technology of Japan (grants 20018029 and 15H01337 to T Kenri); and the Natural Science Foundation of Beijing Municipality, Beijing, China (grant 7152025 to H Sun). J Zhang was supported by a scholarship from Chongqing Medical University (Chongqing, China). X Song was supported by the China Scholarship Council. The authors have no other relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript apart from those disclosed. NR 50 TC 0 Z9 0 U1 0 U2 0 PU FUTURE MEDICINE LTD PI LONDON PA UNITEC HOUSE, 3RD FLOOR, 2 ALBERT PLACE, FINCHLEY CENTRAL, LONDON, N3 1QB, ENGLAND SN 1746-0913 EI 1746-0921 J9 FUTURE MICROBIOL JI Future Microbiol. PD FEB PY 2017 VL 12 IS 2 BP 119 EP 129 DI 10.2217/fmb-2016-0111 PG 11 WC Microbiology SC Microbiology GA EN1JT UT WOS:000395767000005 PM 27728978 ER PT J AU Koehly, LM AF Koehly, Laura M. TI It's Interpersonal: Family Relationships, Genetic Risk, and Caregiving SO GERONTOLOGIST LA English DT Article DE Communal coping; Social support; Family conflict; Social networks ID NONPOLYPOSIS COLORECTAL-CANCER; SOCIAL SUPPORT; LYNCH-SYNDROME; LIFE-COURSE; COMMUNICATION; PERSPECTIVE; INTERDEPENDENCE; INFORMATION; MUTATIONS; NETWORKS AB My research program considers family relationships across the life course: in early life, with a focus on disease prevention-leveraging genetic risk information and relationships to motivate health-promoting behaviors- and in later life, with a focus on informal caregiving-identifying characteristics of those most vulnerable to, or resilient from, caregiver stress. It is fortuitous, if not tragic, then, that my research and personal worlds collided during my mother's final 8 months of life. Here, I discuss how this experience has shifted my thinking within both arms of my research program. First, I consider the state of the science in family health history, arguing that the current approach which focuses on an individual's first-and second-degree relatives does not take us far enough into the relational landscape to activate communal coping with disease risk. Second, I discuss caregiving from a family systems perspective. My family's experience confirmed the importance of using a systems approach and highlighted a need to identify underlying variability in members' expectations of caregiving roles. In so doing, I capture the significance of understanding the multiple perspectives that frame a context in which families adapt and cope with risk and disease diagnoses. C1 [Koehly, Laura M.] NHGRI, Social & Behav Res Branch, NIH, 31 Ctr Dr,Builing 31,Room B1B54, Bethesda, MD 20892 USA. RP Koehly, LM (reprint author), NHGRI, Social & Behav Res Branch, NIH, 31 Ctr Dr,Builing 31,Room B1B54, Bethesda, MD 20892 USA. EM koehlyl@mail.nih.gov FU National Human Genome Research Institute at the National Institutes of Health [ZIAHG200395-01] FX This work was supported by the Intramural Research Program of the National Human Genome Research Institute at the National Institutes of Health (ZIAHG200395-01). NR 48 TC 1 Z9 1 U1 0 U2 0 PU OXFORD UNIV PRESS INC PI CARY PA JOURNALS DEPT, 2001 EVANS RD, CARY, NC 27513 USA SN 0016-9013 EI 1758-5341 J9 GERONTOLOGIST JI Gerontologist PD FEB PY 2017 VL 57 IS 1 SI SI BP 32 EP 39 DI 10.1093/geront/gnw103 PG 8 WC Gerontology SC Geriatrics & Gerontology GA EP0CQ UT WOS:000397054800006 PM 27507685 ER PT J AU Xie, Y Pittaluga, S Price, S Raffeld, M Hahn, J Jaffe, ES Rao, VK Maric, I AF Xie, Yi Pittaluga, Stefania Price, Susan Raffeld, Mark Hahn, Jamie Jaffe, Elaine S. Rao, V. Koneti Maric, Irina TI Bone marrow findings in autoimmune lymphoproliferative syndrome with germline FAS mutation SO HAEMATOLOGICA LA English DT Article ID ROSAI-DORFMAN DISEASE; LYMPHOCYTE APOPTOSIS; MASSIVE LYMPHADENOPATHY; DEFECTIVE LYMPHOCYTE; SINUS HISTIOCYTOSIS; GENE-MUTATIONS; PATIENT; IMMUNOGLOBULIN; FEATURES AB Autoimmune lymphoproliferative syndrome is a rare genetic disorder characterized by defective FAS-mediated apoptosis, autoimI une disease, accumulation of mature T-cell receptor alpha/beta positive, CD4 and CD8 double-negative T cells and increased risk of lymphoma. Despite frequent hematologic abnormalities, literature is scarce regarding the bone marrow pathology in autoimmune lymphoproliferative syndrome. We retrospectively reviewed 31 bone marrow biopsies from a cohort of 240 patients with germline FAS mutations. All biopsies were performed for the evaluation of cytopenias or to rule out lymphoma. Clinical information was collected and morphological, immunohistochemical, flow cytometric and molecular studies were performed. Bone marrow lymphocytosis was the predominant feature, present in 74% (23/31) of biopsies. The lymphoid cells showed several different patterns of infiltration, most often forming aggregates comprising T cells in 15 cases, B cells in one and a mixture of T and B cells in the other seven cases. Double-negative T cells were detected by immunohistochemistry in the minority of cases (10/31; 32%); significantly, all but one of these cases had prominent double-negative T-lymphoid aggregates, which in four cases diffusely replaced the marrow space. One case showed features of Rosai-Dorfman disease, containing scattered S-100 cells with emperipolesis and double-negative T cells. No clonal B or T cells were detected by polymerase chain reaction in any evaluated cases. Classical Hodgkin lymphoma was identified in three cases. Our results demonstrate that infiltrates of T cells, or rarely B cells, can be extensive in patients with autoimmune lymphoproliferative syndrome, mimicking lymphoma. A multi-modality approach, integrating clinical, histological, immunohistochemical as well as other ancillary tests, can help avoid this diagnostic pitfall. This study is registered at Clinical trials.gov ID # NCT00001350 C1 [Xie, Yi; Pittaluga, Stefania; Raffeld, Mark; Jaffe, Elaine S.] NCI, Pathol Lab, Ctr Canc Res, NIH, Bldg 10, Bethesda, MD 20892 USA. [Price, Susan; Rao, V. Koneti] NIAID, Lab Clin Infect Dis, NIH, 9000 Rockville Pike, Bethesda, MD 20892 USA. [Hahn, Jamie; Maric, Irina] NIH, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. RP Maric, I (reprint author), NIH, Ctr Clin, Bldg 10, Bethesda, MD 20892 USA. EM marici@cc.nih.gov NR 37 TC 0 Z9 0 U1 0 U2 0 PU FERRATA STORTI FOUNDATION PI PAVIA PA VIA GIUSEPPE BELLI 4, 27100 PAVIA, ITALY SN 0390-6078 J9 HAEMATOLOGICA JI Haematologica PD FEB PY 2017 VL 102 IS 2 BP 364 EP 372 DI 10.3324/haematol.2015.138081 PG 9 WC Hematology SC Hematology GA EP1TP UT WOS:000397167500027 PM 27846610 ER PT J AU Tucker, NR Mahida, S Ye, JC Abraham, EJ Mina, JA Parsons, VA McLellan, MA Shea, MA Hanley, A Benjamin, EJ Milan, DJ Lin, HH Ellinor, PT AF Tucker, Nathan R. Mahida, Saagar Ye, Jiangchuan Abraham, Elizabeth J. Mina, Julie A. Parsons, Victoria A. McLellan, Michael A. Shea, Marisa A. Hanley, Alan Benjamin, Emelia J. Milan, David J. Lin, Honghuang Ellinor, Patrick T. TI Gain-of-function mutations in GATA6 lead to atrial fibrillation SO HEART RHYTHM LA English DT Article DE Atrial fibrillation; Mutation; Transcription factor; Genetics ID TRANSCRIPTION FACTORS; FAMILIAL AGGREGATION; GENETIC-VARIATION; HEART; EXPRESSION; VARIANTS; ENHANCER; DEFECTS AB BACKGROUND The genetic basis of atrial fibrillation (AF) and congenital heart disease remains incompletely understood. OBJECTIVE We sought to determine the causative mutation in a family with AF, atrial septal defects, and ventricular septal defects. METHODS We evaluated a pedigree with 16 family members, 1 with an atrial septal defect, 1 with a ventricular septal defect, and 3 with AF; we performed whole exome sequencing in 3 affected family members. Given that early-onset AF was prominent in the family, we then screened individuals with early-onset AF, defined as an age of onset <66 years, for mutations in GATA6. Variants were functionally characterized using reporter assays in a mammalian cell line. RESULTS Exome sequencing in 3 affected individuals identified a conserved mutation, R585L, in the transcription factor gene GATA6. In the Massachusetts General Hospital Atrial Fibrillation (MGH AF) Study, the mean age of AF onset was 47.1 +/- 10.9 years; 79% of the participants were men; and there was no evidence of structural heart disease. We identified 3 GATA6 variants (P91S, A177T, and A543G). Using wild-type and mutant GATA6 constructs driving atrial natriuretic peptide promoter reporter, we found that 3 of the 4 variants had a marked upregulation of luciferase activity (R585L: 4.1-fold, P<.0001; P91S: 2.5-fold, P=.0002; A177T; 1.7-fold, P=.03). In addition, when co-overexpressed with GATA4 and MEF2C, GATA6 variants exhibited upregulation of the alpha myosin heavy chain and atrial natriuretic peptide reporter activity. CONCLUSION Overall, we found gain-of-function mutations in GATA6 in both a family with early-onset AF and atrioventricular septal defects as well as in a family with sporadic, early-onset AF. C1 [Shea, Marisa A.; Milan, David J.; Ellinor, Patrick T.] Massachusetts Gen Hosp, Cardiac Arrhythmia Serv, Boston, MA 02114 USA. [Benjamin, Emelia J.] NHLBI, Framingham, MA USA. [Benjamin, Emelia J.] Boston Univ, Framingham Heart Study, Framingham, MA USA. [Benjamin, Emelia J.] Boston Univ, Sch Med, Dept Med, Prevent Med & Cardiovasc Med Sect, Boston, MA 02215 USA. [Lin, Honghuang] Boston Univ, Sch Med, Dept Med, Computat Biomed Sect, Boston, MA 02215 USA. RP Ellinor, PT (reprint author), Massachusetts Gen Hosp, Cardiovasc Res Ctr, 55 Fruit St,Gray109, Boston, MA 02114 USA. EM ellinor@mgh.harvard.edu FU Bayer Healthcare FX The first 2 authors contributed equally to this work. Dr Ellinor is a principal investigator of a grant from Bayer Healthcare to the Broad Institute. NR 30 TC 1 Z9 1 U1 0 U2 0 PU ELSEVIER SCIENCE INC PI NEW YORK PA 360 PARK AVE SOUTH, NEW YORK, NY 10010-1710 USA SN 1547-5271 EI 1556-3871 J9 HEART RHYTHM JI Heart Rhythm PD FEB PY 2017 VL 14 IS 2 BP 284 EP 291 DI 10.1016/j.hrthm.2016.10.014 PG 8 WC Cardiac & Cardiovascular Systems SC Cardiovascular System & Cardiology GA EP2WD UT WOS:000397243400024 PM 27756709 ER EF