Works in Human Molecular Genetics, 2011, Vol 20, Issue 15

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
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
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
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
Subscription Page.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr261
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
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
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
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
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
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
Editorial Board.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr259
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
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
Cover Page.
Published in:
Human Molecular Genetics, 2011, v. 20, n. 15, p. NP, doi. 10.1093/hmg/ddr257
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
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