Works matching IS 0964-6906 AND VI 20 AND IP 15 AND DT 2011

Results: 22

High-resolution mapping of a complex disease, a model for rheumatoid arthritis, using heterogeneous stock mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3031, doi. 10.1093/hmg/ddr206

By:

Ahlqvist, Emma;
Ekman, Diana;
Lindvall, Therese;
Popovic, Marjan;
Förster, Michael;
Hultqvist, Malin;
Klaczkowska, Dorota;
Teneva, Ivanka;
Johannesson, Martina;
Flint, Jonathan;
Valdar, William;
Nandakumar, Kutty Selva;
Holmdahl, Rikard

Publication type:

Article

Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2905, doi. 10.1093/hmg/ddr144

By:

Mandegar, Mohammad A.;
Moralli, Daniela;
Khoja, Suhail;
Cowley, Sally;
Chan, David Y.L.;
Yusuf, Mohammed;
Mukherjee, Sayandip;
Blundell, Michael P.;
Volpi, Emanuela V.;
Thrasher, Adrian J.;
James, William;
Monaco, Zoia L.

Publication type:

Article

Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2996, doi. 10.1093/hmg/ddr203

By:

Teixeira-Castro, Andreia;
Ailion, Michael;
Jalles, Ana;
Brignull, Heather R.;
Vilaça, João L.;
Dias, Nuno;
Rodrigues, Pedro;
Oliveira, João F.;
Neves-Carvalho, Andreia;
Morimoto, Richard I.;
Maciel, Patrícia

Publication type:

Article

Deficiency of α-actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2914, doi. 10.1093/hmg/ddr196

By:

Seto, Jane T.;
Lek, Monkol;
Quinlan, Kate G.R.;
Houweling, Peter J.;
Zheng, Xi F.;
Garton, Fleur;
MacArthur, Daniel G.;
Raftery, Joanna M.;
Garvey, Sean M.;
Hauser, Michael A.;
Yang, Nan;
Head, Stewart I.;
North, Kathryn N.

Publication type:

Article

Internal deletion compromises the stability of dystrophin.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2955, doi. 10.1093/hmg/ddr199

By:

Henderson, Davin M.;
Belanto, Joseph J.;
Li, Bin;
Heun-Johnson, Hanke;
Ervasti, James M.

Publication type:

Article

Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3093, doi. 10.1093/hmg/ddr212

By:

Wang, Xiaoming;
McCoy, Portia A.;
Rodriguiz, Ramona M.;
Pan, Yanzhen;
Je, H. Shawn;
Roberts, Adam C.;
Kim, Caroline J.;
Berrios, Janet;
Colvin, Jennifer S.;
Bousquet-Moore, Danielle;
Lorenzo, Isabel;
Wu, Gangyi;
Weinberg, Richard J.;
Ehlers, Michael D.;
Philpot, Benjamin D.;
Beaudet, Arthur L.;
Wetsel, William C.;
Jiang, Yong-hui

Publication type:

Article

Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2984, doi. 10.1093/hmg/ddr202

By:

Ambrus, Attila;
Torocsik, Beata;
Tretter, Laszlo;
Ozohanics, Oliver;
Adam-Vizi, Vera

Publication type:

Article

Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2975, doi. 10.1093/hmg/ddr201

By:

Kuga, Atsushi;
Ohsawa, Yutaka;
Okada, Tadashi;
Kanda, Fumio;
Kanagawa, Motoi;
Toda, Tatsushi;
Sunada, Yoshihide

Publication type:

Article

Biochemical analysis of human POLG2 variants associated with mitochondrial disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3052, doi. 10.1093/hmg/ddr209

By:

Young, Matthew J.;
Longley, Matthew J.;
Li, Fang-Yuan;
Kasiviswanathan, Rajesh;
Wong, Lee-Jun;
Copeland, William C.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr261
Publication type:: Article

Association of Sly with sex-linked gene amplification during mouse evolution: a side effect of genomic conflict in spermatids?

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3010, doi. 10.1093/hmg/ddr204

By:

Ellis, Peter J.I.;
Bacon, Joanne;
Affara, Nabeel A.

Publication type:

Article

adPEO mutations in ANT1 impair ADP–ATP translocation in muscle mitochondria.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2964, doi. 10.1093/hmg/ddr200

By:

Kawamata, Hibiki;
Tiranti, Valeria;
Magrané, Jordi;
Chinopoulos, Christos;
Manfredi, Giovanni

Publication type:

Article

Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3042, doi. 10.1093/hmg/ddr208

By:

Sun, Chicheng;
Cheng, Min-Chih;
Qin, Rosie;
Liao, Ding-Lieh;
Chen, Tzu-Ting;
Koong, Farn-Jong;
Chen, Gong;
Chen, Chia-Hsiang

Publication type:

Article

FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2928, doi. 10.1093/hmg/ddr197

By:

Araujo, Julieta;
Breuer, Peter;
Dieringer, Susanne;
Krauss, Sybille;
Dorn, Stephanie;
Zimmermann, Katrin;
Pfeifer, Alexander;
Klockgether, Thomas;
Wuellner, Ullrich;
Evert, Bernd O.

Publication type:

Article

Seipin ablation in mice results in severe generalized lipodystrophy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3022, doi. 10.1093/hmg/ddr205

By:

Cui, Xin;
Wang, Yuhui;
Tang, Yin;
Liu, Yixiao;
Zhao, Liping;
Deng, Jingna;
Xu, Guoheng;
Peng, Xingui;
Ju, Shenghong;
Liu, George;
Yang, Hongyuan

Publication type:

Article

MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3067

By:

Miñones-Moyano, Elena;
Porta, Sílvia;
Escaramís, Georgia;
Rabionet, Raquel;
Iraola, Susana;
Kagerbauer, Birgit;
Espinosa-Parrilla, Yolanda;
Ferrer, Isidre;
Estivill, Xavier;
Martí, Eulàlia

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr259
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr257
Publication type:: Article

Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3079, doi. 10.1093/hmg/ddr211

By:

Napoli, Eleonora;
Ross-Inta, Catherine;
Wong, Sarah;
Omanska-Klusek, Alicja;
Barrow, Cedrick;
Iwahashi, Christine;
Garcia-Arocena, Dolores;
Sakaguchi, Danielle;
Berry-Kravis, Elizabeth;
Hagerman, Randi;
Hagerman, Paul J.;
Giulivi, Cecilia

Publication type:

Article

Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 2942, doi. 10.1093/hmg/ddr198

By:

Masyukova, Svetlana V.;
Winkelbauer, Marlene E.;
Williams, Corey L.;
Pieczynski, Jay N.;
Yoder, Bradley K.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr255
Publication type:: Article

A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 15, p. 3109, doi. 10.1093/hmg/ddr207

By:

Kanetsky, Peter A.;
Mitra, Nandita;
Vardhanabhuti, Saran;
Vaughn, David J.;
Li, Mingyao;
Ciosek, Stephanie L.;
Letrero, Richard;
D'Andrea, Kurt;
Vaddi, Madhavi;
Doody, David R.;
Weaver, JoEllen;
Chen, Chu;
Starr, Jacqueline R.;
Håkonarson, Håkon;
Rader, Daniel J.;
Godwin, Andrew K.;
Reilly, Muredach P.;
Schwartz, Stephen M.;
Nathanson, Katherine L.

Publication type:

Article