Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 20

Results: 27

A comprehensive examination of breast cancer risk loci in African American women.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5518, doi. 10.1093/hmg/ddu252

By:

Feng, Ye;
Stram, Daniel O.;
Rhie, Suhn Kyong;
Millikan, Robert C.;
Ambrosone, Christine B.;
John, Esther M.;
Bernstein, Leslie;
Zheng, Wei;
Olshan, Andrew F.;
Hu, Jennifer J.;
Ziegler, Regina G.;
Nyante, Sarah;
Bandera, Elisa V.;
Ingles, Sue A.;
Press, Michael F.;
Deming, Sandra L.;
Rodriguez-Gil, Jorge L.;
Palmer, Julie R.;
Olopade, Olufunmilayo I.;
Huo, Dezheng

Publication type:

Article

A comprehensive picture of the mutations associated with aromatic amino acid decarboxylase deficiency: from molecular mechanisms to therapy implications.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5429, doi. 10.1093/hmg/ddu266

By:

Montioli, Riccardo;
Dindo, Mirco;
Giorgetti, Alejandro;
Piccoli, Stefano;
Cellini, Barbara;
Voltattorni, Carla Borri

Publication type:

Article

Caspase-12 ablation preserves muscle function in the mdx mouse.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5325, doi. 10.1093/hmg/ddu249

By:

Moorwood, Catherine;
Barton, Elisabeth R.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu481
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu483
Publication type:: Article

Genome-wide association study and mouse expression data identify a highly conserved 32 kb intergenic region between WNT3 and WNT9b as possible susceptibility locus for isolated classic exstrophy of the bladder.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5536, doi. 10.1093/hmg/ddu259

By:

Reutter, Heiko;
Draaken, Markus;
Pennimpede, Tracie;
Wittler, Lars;
Brockschmidt, Felix F.;
Ebert, Anne-Karolin;
Bartels, Enrika;
Rösch, Wolfgang;
Boemers, Thomas M.;
Hirsch, Karin;
Schmiedeke, Eberhard;
Meesters, Christian;
Becker, Tim;
Stein, Raimund;
Utsch, Boris;
Mangold, Elisabeth;
Nordenskjöld, Agneta;
Barker, Gillian;
Kockum, Christina Clementsson;
Zwink, Nadine

Publication type:

Article

Analysis of FMRP mRNA target datasets reveals highly associated mRNAs mediated by G-quadruplex structures formed via clustered WGGA sequences.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5479, doi. 10.1093/hmg/ddu272

By:

Suhl, Joshua A.;
Chopra, Pankaj;
Anderson, Bart R.;
Bassell, Gary J.;
Warren, Stephen T.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu484
Publication type:: Article

Genome-wide association study yields variants at 20p12.2 that associate with urinary bladder cancer.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5545, doi. 10.1093/hmg/ddu264

By:

Rafnar, Thorunn;
Sulem, Patrick;
Thorleifsson, Gudmar;
Vermeulen, Sita H.;
Helgason, Hannes;
Saemundsdottir, Jona;
Gudjonsson, Sigurjon A.;
Sigurdsson, Asgeir;
Stacey, Simon N.;
Gudmundsson, Julius;
Johannsdottir, Hrefna;
Alexiusdottir, Kristin;
Petursdottir, Vigdis;
Nikulasson, Sigfus;
Geirsson, Gudmundur;
Jonsson, Thorvaldur;
Aben, Katja K.H.;
Grotenhuis, Anne J.;
Verhaegh, Gerald W.;
Dudek, Aleksandra M.

Publication type:

Article

STRA6 is critical for cellular vitamin A uptake and homeostasis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5402, doi. 10.1093/hmg/ddu258

By:

Amengual, Jaume;
Zhang, Ning;
Kemerer, Mary;
Maeda, Tadao;
Palczewski, Krzysztof;
Von Lintig, Johannes

Publication type:

Article

NIM811, a cyclophilin inhibitor without immunosuppressive activity, is beneficial in collagen VI congenital muscular dystrophy models.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5353, doi. 10.1093/hmg/ddu254

By:

Zulian, Alessandra;
Rizzo, Erika;
Schiavone, Marco;
Palma, Elena;
Tagliavini, Francesca;
Blaauw, Bert;
Merlini, Luciano;
Maraldi, Nadir Mario;
Sabatelli, Patrizia;
Braghetta, Paola;
Bonaldo, Paolo;
Argenton, Francesco;
Bernardi, Paolo

Publication type:

Article

Inheritance of rare functional GCKR variants and their contribution to triglyceride levels in families.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5570, doi. 10.1093/hmg/ddu269

By:

Rees, Matthew G.;
Raimondo, Anne;
Wang, Jian;
Ban, Matthew R.;
Davis, Mindy I.;
Barrett, Amy;
Ranft, Jessica;
Jagdhuhn, David;
Waterstradt, Rica;
Baltrusch, Simone;
Simeonov, Anton;
Collins, Francis S.;
Hegele, Robert A.;
Gloyn, Anna L.

Publication type:

Article

Comparative epigenetic analyses reveal distinct patterns of oncogenic pathways activation in breast cancer subtypes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5378, doi. 10.1093/hmg/ddu256

By:

Li, Yongsheng;
Li, Shengli;
Chen, Juan;
Shao, Tingting;
Jiang, Chunjie;
Wang, Yuan;
Chen, Hong;
Xu, Juan;
Li, Xia

Publication type:

Article

mTOR pathway is activated by PKA in adrenocortical cells and participates in vivo to apoptosis resistance in primary pigmented nodular adrenocortical disease (PPNAD).

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5418, doi. 10.1093/hmg/ddu265

By:

de Joussineau, Cyrille;
Sahut-Barnola, Isabelle;
Tissier, Frédérique;
Dumontet, Typhanie;
Drelon, Coralie;
Batisse-Lignier, Marie;
Tauveron, Igor;
Pointud, Jean-Christophe;
Lefrançois-Martinez, Anne-Marie;
Stratakis, Constantine A.;
Bertherat, Jérôme;
Val, Pierre;
Martinez, Antoine

Publication type:

Article

Genetic factors affecting gene transcription and catalytic activity of UDP-glucuronosyltransferases in human liver.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5558, doi. 10.1093/hmg/ddu268

By:

Liu, Wanqing;
Ramírez, Jacqueline;
Gamazon, Eric R.;
Mirkov, Snezana;
Chen, Peixian;
Wu, Kehua;
Sun, Chang;
Cox, Nancy J.;
Cook, Edwin;
Das, Soma;
Ratain, Mark J.

Publication type:

Article

Bardet–Biedl syndrome proteins 1 and 3 regulate the ciliary trafficking of polycystic kidney disease 1 protein.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5441, doi. 10.1093/hmg/ddu267

By:

Su, Xuefeng;
Driscoll, Kaitlin;
Yao, Gang;
Raed, Anas;
Wu, Maoqing;
Beales, Philip L.;
Zhou, Jing

Publication type:

Article

P38α MAPK underlies muscular dystrophy and myofiber death through a Bax-dependent mechanism.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5452, doi. 10.1093/hmg/ddu270

By:

Wissing, Erin R.;
Boyer, Justin G.;
Kwong, Jennifer Q.;
Sargent, Michelle A.;
Karch, Jason;
McNally, Elizabeth M.;
Otsu, Kinya;
Molkentin, Jeffery D.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 20, p. NP, doi. 10.1093/hmg/ddu482
Publication type:: Article

DUX4-induced gene expression is the major molecular signature in FSHD skeletal muscle.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5342, doi. 10.1093/hmg/ddu251

By:

Yao, Zizhen;
Snider, Lauren;
Balog, Judit;
Lemmers, Richard J.L.F.;
Van Der Maarel, Silvère M.;
Tawil, Rabi;
Tapscott, Stephen J.

Publication type:

Article

Gene dosage of the transcription factor Fingerin (bHLHA9) affects digit development and links syndactyly to ectrodactyly.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5394, doi. 10.1093/hmg/ddu257

By:

Schatz, Omri;
Langer, Erez;
Ben-Arie, Nissim

Publication type:

Article

ACVR1 p.Q207E causes classic fibrodysplasia ossificans progressiva and is functionally distinct from the engineered constitutively active ACVR1 p.Q207D variant.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5364, doi. 10.1093/hmg/ddu255

By:

Haupt, Julia;
Deichsel, Alexandra;
Stange, Katja;
Ast, Cindy;
Bocciardi, Renata;
Ravazzolo, Roberto;
Di Rocco, Maja;
Ferrari, Paola;
Landi, Antonio;
Kaplan, Frederick S.;
Shore, Eileen M.;
Reissner, Carsten;
Seemann, Petra

Publication type:

Article

Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5317, doi. 10.1093/hmg/ddu247

By:

Poulter, James A.;
Murillo, Gina;
Brookes, Steven J.;
Smith, Claire E. L.;
Parry, David A.;
Silva, Sandra;
Kirkham, Jennifer;
Inglehearn, Chris F.;
Mighell, Alan J.

Publication type:

Article

Atmin mediates kidney morphogenesis by modulating Wnt signaling.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5303, doi. 10.1093/hmg/ddu246

By:

Goggolidou, Paraskevi;
Hadjirin, Nazreen F.;
Bak, Aggie;
Papakrivopoulou, Eugenia;
Hilton, Helen;
Norris, Dominic P.;
Dean, Charlotte H.

Publication type:

Article

Meta-analysis of genome-wide association studies in East Asian-ancestry populations identifies four new loci for body mass index.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5492, doi. 10.1093/hmg/ddu248

By:

Wen, Wanqing;
Zheng, Wei;
Okada, Yukinori;
Takeuchi, Fumihiko;
Tabara, Yasuharu;
Hwang, Joo-Yeon;
Dorajoo, Rajkumar;
Li, Huaixing;
Tsai, Fuu-Jen;
Yang, Xiaobo;
He, Jiang;
Wu, Ying;
He, Meian;
Zhang, Yi;
Liang, Jun;
Guo, Xiuqing;
Sheu, Wayne Huey-Herng;
Delahanty, Ryan;
Guo, Xingyi;
Kubo, Michiaki

Publication type:

Article

Genome-wide association study identifies a novel susceptibility gene for serum TSH levels in Chinese populations.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5505

By:

Zhan, Ming;
Chen, Gang;
Pan, Chun-Ming;
Gu, Zhao-Hui;
Zhao, Shuang-Xia;
Liu, Wei;
Wang, Hai-Ning;
Ye, Xiao-Ping;
Xie, Hui-Jun;
Yu, Sha-Sha;
Liang, Jun;
Gao, Guan-Qi;
Yuan, Guo-Yue;
Zhang, Xiao-Mei;
Zuo, Chun-Lin;
Su, Bin;
Huang, Wei;
Ning, Guang;
Chen, Sai-Juan;
Chen, Jia-Lun

Publication type:

Article

PMD patient mutations reveal a long-distance intronic interaction that regulates PLP1/DM20 alternative splicing.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5464, doi. 10.1093/hmg/ddu271

By:

Taube, Jennifer R.;
Sperle, Karen;
Banser, Linda;
Seeman, Pavel;
Cavan, Barbra Charina V.;
Garbern, James Y.;
Hobson, Grace M.

Publication type:

Article

Enrichment of pathogenic alleles in the brittle cornea gene, ZNF469, in keratoconus.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 20, p. 5527, doi. 10.1093/hmg/ddu253

By:

Lechner, Judith;
Porter, Louise F.;
Rice, Aine;
Vitart, Veronique;
Armstrong, David J.;
Schorderet, Daniel F.;
Munier, Francis L.;
Wright, Alan F.;
Inglehearn, Chris F.;
Black, Graeme C.;
Simpson, David A.;
Manson, Forbes;
Willoughby, Colin E.

Publication type:

Article