Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 21

Results: 22

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt476
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt474
Publication type:: Article

MCTP2 is a dosage-sensitive gene required for cardiac outflow tract development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4339, doi. 10.1093/hmg/ddt283

By:

Lalani, Seema R.;
Ware, Stephanie M.;
Wang, Xueqing;
Zapata, Gladys;
Tian, Qi;
Franco, Luis M.;
Jiang, Zhengxin;
Bucasas, Kristine;
Scott, Daryl A.;
Campeau, Philippe M.;
Hanchard, Neil;
Umaña, Luis;
Cast, Ashley;
Patel, Ankita;
Cheung, Sau W.;
McBride, Kim L.;
Bray, Molly;
Craig Chinault, A.;
Boggs, Barbara A.;
Huang, Miao

Publication type:

Article

An association study of TOLL and CARD with leprosy susceptibility in Chinese population.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4430, doi. 10.1093/hmg/ddt286

By:

Liu, Hong;
Bao, Fangfang;
Irwanto, Astrid;
Fu, Xi'an;
Lu, Nan;
Yu, Gongqi;
Yu, Yongxiang;
Sun, Yonghu;
Low, Huiqi;
Li, Yi;
Liany, Herty;
Yuan, Chunying;
Li, Jinghui;
Liu, Jian;
Chen, Mingfei;
Liu, Huaxu;
Wang, Na;
You, Jiabao;
Ma, Shanshan;
Niu, Guiye

Publication type:

Article

Modeling Dravet syndrome using induced pluripotent stem cells (iPSCs) and directly converted neurons.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4241, doi. 10.1093/hmg/ddt275

By:

Jiao, Jiao;
Yang, Yuanyuan;
Shi, Yiwu;
Chen, Jiayu;
Gao, Rui;
Fan, Yong;
Yao, Hui;
Liao, Weiping;
Sun, Xiao-Fang;
Gao, Shaorong

Publication type:

Article

Amyotrophic lateral sclerosis-related VAPB P56S mutation differentially affects the function and survival of corticospinal and spinal motor neurons.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4293, doi. 10.1093/hmg/ddt279

By:

Aliaga, Leonardo;
Lai, Chen;
Yu, Jia;
Chub, Nikolai;
Shim, Hoon;
Sun, Lixin;
Xie, Chengsong;
Yang, Wan-Jou;
Lin, Xian;
O'Donovan, Michael J.;
Cai, Huaibin

Publication type:

Article

Muscle-specific function of the centronuclear myopathy and Charcot–Marie–Tooth neuropathy-associated dynamin 2 is required for proper lipid metabolism, mitochondria, muscle fibers, neuromuscular junctions and peripheral nerves.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4417, doi. 10.1093/hmg/ddt292

By:

Tinelli, Elisa;
Pereira, Jorge A.;
Suter, Ueli

Publication type:

Article

Birt–Hogg–Dubé syndrome is a novel ciliopathy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4383, doi. 10.1093/hmg/ddt288

By:

Luijten, Monique N.H.;
Basten, Sander G.;
Claessens, Tijs;
Vernooij, Marigje;
Scott, Claire L.;
Janssen, Renske;
Easton, Jennifer A.;
Kamps, Miriam A.F.;
Vreeburg, Maaike;
Broers, Jos L.V.;
van Geel, Michel;
Menko, Fred H.;
Harbottle, Richard P.;
Nookala, Ravi K.;
Tee, Andrew R.;
Land, Stephen C.;
Giles, Rachel H.;
Coull, Barry J.;
van Steensel, Maurice A.M.

Publication type:

Article

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1).

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4329, doi. 10.1093/hmg/ddt282

By:

Caramins, Melody;
Colebatch, James G.;
Bainbridge, Matthew N.;
Scherer, Steven S.;
Abrams, Charles K.;
Hackett, Emma L.;
Freidin, Mona M.;
Jhangiani, Shalini N.;
Wang, Min;
Wu, Yuanqing;
Muzny, Donna M.;
Lindeman, Robert;
Gibbs, Richard A.

Publication type:

Article

A Prader–Willi locus lncRNA cloud modulates diurnal genes and energy expenditure.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4318, doi. 10.1093/hmg/ddt281

By:

Powell, Weston T.;
Coulson, Rochelle L.;
Crary, Florence K.;
Wong, Spencer S.;
Ach, Robert A.;
Tsang, Peter;
Alice Yamada, N.;
Yasui, Dag H.;
LaSalle, Janine M.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt472
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 21, p. NP, doi. 10.1093/hmg/ddt470
Publication type:: Article

MAP2K3 is associated with body mass index in American Indians and Caucasians and may mediate hypothalamic inflammation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4438, doi. 10.1093/hmg/ddt291

By:

Bian, Li;
Traurig, Michael;
Hanson, Robert L.;
Marinelarena, Alejandra;
Kobes, Sayuko;
Muller, Yunhua L.;
Malhotra, Alka;
Huang, Ke;
Perez, Jessica;
Gale, Alex;
Knowler, William C.;
Bogardus, Clifton;
Baier, Leslie J.

Publication type:

Article

Genetic screening for Niemann–Pick disease type C in adults with neurological and psychiatric symptoms: findings from the ZOOM study.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4349, doi. 10.1093/hmg/ddt284

By:

Bauer, Peter;
Balding, David J.;
Klünemann, Hans H.;
Linden, David E. J.;
Ory, Daniel S.;
Pineda, Mercè;
Priller, Josef;
Sedel, Frederic;
Muller, Audrey;
Chadha-Boreham, Harbajan;
Welford, Richard W. D.;
Strasser, Daniel S.;
Patterson, Marc C.

Publication type:

Article

Dystrophin-deficient pigs provide new insights into the hierarchy of physiological derangements of dystrophic muscle.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4368, doi. 10.1093/hmg/ddt287

By:

Klymiuk, Nikolai;
Blutke, Andreas;
Graf, Alexander;
Krause, Sabine;
Burkhardt, Katinka;
Wuensch, Annegret;
Krebs, Stefan;
Kessler, Barbara;
Zakhartchenko, Valeri;
Kurome, Mayuko;
Kemter, Elisabeth;
Nagashima, Hiroshi;
Schoser, Benedikt;
Herbach, Nadja;
Blum, Helmut;
Wanke, Rüdiger;
Aartsma-Rus, Annemieke;
Thirion, Christian;
Lochmüller, Hanns;
Walter, Maggie C.

Publication type:

Article

MITF mutations associated with pigment deficiency syndromes and melanoma have different effects on protein function.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4357, doi. 10.1093/hmg/ddt285

By:

Grill, Christine;
Bergsteinsdóttir, Kristín;
Ögmundsdóttir, Margrét H.;
Pogenberg, Vivian;
Schepsky, Alexander;
Wilmanns, Matthias;
Pingault, Veronique;
Steingrímsson, Eiríkur

Publication type:

Article

LRP6 exerts non-canonical effects on Wnt signaling during neural tube closure.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4267, doi. 10.1093/hmg/ddt277

By:

Gray, Jason D.;
Kholmanskikh, Stanislav;
Castaldo, Bozena S.;
Hansler, Alex;
Chung, Heekyung;
Klotz, Brian;
Singh, Shawn;
Brown, Anthony M. C.;
Ross, M. Elizabeth

Publication type:

Article

Triggering regeneration and tackling apoptosis: a combinatorial approach to treating congenital muscular dystrophy type 1 A.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4306, doi. 10.1093/hmg/ddt280

By:

Yamauchi, Jenny;
Kumar, Ajay;
Duarte, Lina;
Mehuron, Thomas;
Girgenrath, Mahasweta

Publication type:

Article

Skeletal and cardiac α-actin isoforms differently modulate myosin cross-bridge formation and myofibre force production.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4398, doi. 10.1093/hmg/ddt289

By:

Ochala, Julien;
Iwamoto, Hiroyuki;
Ravenscroft, Gianina;
Laing, Nigel G.;
Nowak, Kristen J.

Publication type:

Article

Polar substitutions in helix 3 of the prion protein produce transmembrane isoforms that disturb vesicle trafficking.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4253, doi. 10.1093/hmg/ddt276

By:

Sanchez-Garcia, Jonatan;
Arbelaez, Daniela;
Jensen, Kurt;
Rincon-Limas, Diego E.;
Fernandez-Funez, Pedro

Publication type:

Article

Loss and gain of FUS function impair neuromuscular synaptic transmission in a genetic model of ALS.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4282, doi. 10.1093/hmg/ddt278

By:

Armstrong, Gary A.B.;
Drapeau, Pierre

Publication type:

Article

Insights into MLC pathogenesis: GlialCAM is an MLC1 chaperone required for proper activation of volume-regulated anion currents.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 21, p. 4405, doi. 10.1093/hmg/ddt290

By:

Capdevila-Nortes, Xavier;
López-Hernández, Tania;
Apaja, Pirjo M.;
López de Heredia, Miguel;
Sirisi, Sònia;
Callejo, Gerard;
Arnedo, Tanit;
Nunes, Virginia;
Lukacs, Gergely L.;
Gasull, Xavier;
Estévez, Raúl

Publication type:

Article