@article {Mandegar:2011:0964-6906:2905, author = "Mandegar, Mohammad A. and Moralli, Daniela and Khoja, Suhail and Cowley, Sally and Chan, David Y.L. and Yusuf, Mohammed and Mukherjee, Sayandip and Blundell, Michael P. and Volpi, Emanuela V. and Thrasher, Adrian J. and James, William and Monaco, Zoia L.", title = "Functional human artificial chromosomes are generated and stably maintained in human embryonic stem cells", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2905-2913", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00001", doi = "doi:10.1093/hmg/ddr144" } @article {Seto:2011:0964-6906:2914, author = "Seto, Jane T. and Lek, Monkol and Quinlan, Kate G.R. and Houweling, Peter J. and Zheng, Xi F. and Garton, Fleur and MacArthur, Daniel G. and Raftery, Joanna M. and Garvey, Sean M. and Hauser, Michael A. and Yang, Nan and Head, Stewart I. and North, Kathryn N.", title = "Deficiency of -actinin-3 is associated with increased susceptibility to contraction-induced damage and skeletal muscle remodeling", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2914-2927", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00002", doi = "doi:10.1093/hmg/ddr196" } @article {Araujo:2011:0964-6906:2928, author = "Araujo, Julieta and Breuer, Peter and Dieringer, Susanne and Krauss, Sybille and Dorn, Stephanie and Zimmermann, Katrin and Pfeifer, Alexander and Klockgether, Thomas and Wuellner, Ullrich and Evert, Bernd O.", title = "FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2928-2941", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00003", doi = "doi:10.1093/hmg/ddr197" } @article {Masyukova:2011:0964-6906:2942, author = "Masyukova, Svetlana V. and Winkelbauer, Marlene E. and Williams, Corey L. and Pieczynski, Jay N. and Yoder, Bradley K.", title = "Assessing the pathogenic potential of human Nephronophthisis disease-associated NPHP-4 missense mutations in C. elegans", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2942-2954", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00004", doi = "doi:10.1093/hmg/ddr198" } @article {Henderson:2011:0964-6906:2955, author = "Henderson, Davin M. and Belanto, Joseph J. and Li, Bin and Heun-Johnson, Hanke and Ervasti, James M.", title = "Internal deletion compromises the stability of dystrophin", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2955-2963", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00005", doi = "doi:10.1093/hmg/ddr199" } @article {Kawamata:2011:0964-6906:2964, author = "Kawamata, Hibiki and Tiranti, Valeria and Magrane, Jordi and Chinopoulos, Christos and Manfredi, Giovanni", title = "adPEO mutations in ANT1 impair ADPATP translocation in muscle mitochondria", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2964-2974", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00006", doi = "doi:10.1093/hmg/ddr200" } @article {Kuga:2011:0964-6906:2975, author = "Kuga, Atsushi and Ohsawa, Yutaka and Okada, Tadashi and Kanda, Fumio and Kanagawa, Motoi and Toda, Tatsushi and Sunada, Yoshihide", title = "Endoplasmic reticulum stress response in P104L mutant caveolin-3 transgenic mice", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2975-2983", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00007", doi = "doi:10.1093/hmg/ddr201" } @article {Ambrus:2011:0964-6906:2984, author = "Ambrus, Attila and Torocsik, Beata and Tretter, Laszlo and Ozohanics, Oliver and Adam-Vizi, Vera", title = "Stimulation of reactive oxygen species generation by disease-causing mutations of lipoamide dehydrogenase", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2984-2995", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00008", doi = "doi:10.1093/hmg/ddr202" } @article {Teixeira-Castro:2011:0964-6906:2996, author = "Teixeira-Castro, Andreia and Ailion, Michael and Jalles, Ana and Brignull, Heather R. and Vilaca, Joao L. and Dias, Nuno and Rodrigues, Pedro and Oliveira, Joao F. and Neves-Carvalho, Andreia and Morimoto, Richard I. and Maciel, Patricia", title = "Neuron-specific proteotoxicity of mutant ataxin-3 in C. elegans: rescue by the DAF-16 and HSF-1 pathways", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "2996-3009", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00009", doi = "doi:10.1093/hmg/ddr203" } @article {Ellis:2011:0964-6906:3010, author = "Ellis, Peter J.I. and Bacon, Joanne and Affara, Nabeel A.", title = "Association of Sly with sex-linked gene amplification during mouse evolution: a side effect of genomic conflict in spermatids?", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3010-3021", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00010", doi = "doi:10.1093/hmg/ddr204" } @article {Cui:2011:0964-6906:3022, author = "Cui, Xin and Wang, Yuhui and Tang, Yin and Liu, Yixiao and Zhao, Liping and Deng, Jingna and Xu, Guoheng and Peng, Xingui and Ju, Shenghong and Liu, George and Yang, Hongyuan", title = "Seipin ablation in mice results in severe generalized lipodystrophy", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3022-3030", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00011", doi = "doi:10.1093/hmg/ddr205" } @article {Ahlqvist:2011:0964-6906:3031, author = "Ahlqvist, Emma and Ekman, Diana and Lindvall, Therese and Popovic, Marjan and Forster, Michael and Hultqvist, Malin and Klaczkowska, Dorota and Teneva, Ivanka and Johannesson, Martina and Flint, Jonathan and Valdar, William and Nandakumar, Kutty Selva and Holmdahl, Rikard", title = "High-resolution mapping of a complex disease, a model for rheumatoid arthritis, using heterogeneous stock mice", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3031-3041", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00012", doi = "doi:10.1093/hmg/ddr206" } @article {Sun:2011:0964-6906:3042, author = "Sun, Chicheng and Cheng, Min-Chih and Qin, Rosie and Liao, Ding-Lieh and Chen, Tzu-Ting and Koong, Farn-Jong and Chen, Gong and Chen, Chia-Hsiang", title = "Identification and functional characterization of rare mutations of the neuroligin-2 gene (NLGN2) associated with schizophrenia", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3042-3051", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00013", doi = "doi:10.1093/hmg/ddr208" } @article {Young:2011:0964-6906:3052, author = "Young, Matthew J. and Longley, Matthew J. and Li, Fang-Yuan and Kasiviswanathan, Rajesh and Wong, Lee-Jun and Copeland, William C.", title = "Biochemical analysis of human POLG2 variants associated with mitochondrial disease", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3052-3066", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00014", doi = "doi:10.1093/hmg/ddr209" } @article {Minones-Moyano:2011:0964-6906:3067, author = "Minones-Moyano, Elena and Porta, Silvia and Escaramis, Georgia and Rabionet, Raquel and Iraola, Susana and Kagerbauer, Birgit and Espinosa-Parrilla, Yolanda and Ferrer, Isidre and Estivill, Xavier and Marti, Eulalia", title = "MicroRNA profiling of Parkinson's disease brains identifies early downregulation of miR-34b/c which modulate mitochondrial function", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3067-3078", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00015", doi = "doi:10.1093/hmg/ddr210" } @article {Napoli:2011:0964-6906:3079, author = "Napoli, Eleonora and Ross-Inta, Catherine and Wong, Sarah and Omanska-Klusek, Alicja and Barrow, Cedrick and Iwahashi, Christine and Garcia-Arocena, Dolores and Sakaguchi, Danielle and Berry-Kravis, Elizabeth and Hagerman, Randi and Hagerman, Paul J. and Giulivi, Cecilia", title = "Altered zinc transport disrupts mitochondrial protein processing/import in fragile X-associated tremor/ataxia syndrome", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3079-3092", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00016", doi = "doi:10.1093/hmg/ddr211" } @article {Wang:2011:0964-6906:3093, author = "Wang, Xiaoming and McCoy, Portia A. and Rodriguiz, Ramona M. and Pan, Yanzhen and Je, H. Shawn and Roberts, Adam C. and Kim, Caroline J. and Berrios, Janet and Colvin, Jennifer S. and Bousquet-Moore, Danielle and Lorenzo, Isabel and Wu, Gangyi and Weinberg, Richard J. and Ehlers, Michael D. and Philpot, Benjamin D. and Beaudet, Arthur L. and Wetsel, William C. and Jiang, Yong-hui", title = "Synaptic dysfunction and abnormal behaviors in mice lacking major isoforms of Shank3", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3093-3108", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00017", doi = "doi:10.1093/hmg/ddr212" } @article {Kanetsky:2011:0964-6906:3109, author = "Kanetsky, Peter A. and Mitra, Nandita and Vardhanabhuti, Saran and Vaughn, David J. and Li, Mingyao and Ciosek, Stephanie L. and Letrero, Richard and D'Andrea, Kurt and Vaddi, Madhavi and Doody, David R. and Weaver, JoEllen and Chen, Chu and Starr, Jacqueline R. and Hakonarson, Hakon and Rader, Daniel J. and Godwin, Andrew K. and Reilly, Muredach P. and Schwartz, Stephen M. and Nathanson, Katherine L.", title = "A second independent locus within DMRT1 is associated with testicular germ cell tumor susceptibility", journal = "Human Molecular Genetics", volume = "20", number = "15", year = "2011", pages = "3109-3117", url = "http://www.ingentaconnect.com/content/oup/hmg/2011/00000020/00000015/art00018", doi = "doi:10.1093/hmg/ddr207" }