Human Molecular Genetics

ARTICLES:

Sharareh Monemi, George Spaeth, Alexander DaSilva, Samuel Popinchalk, Elena Ilitchev, Jeffrey Liebmann, Robert Ritch, Elise Héon, Ronald Pitts Crick, Anne Child, and Mansoor Sarfarazi

Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1
Human Molecular Genetics Advance Access published on January 27, 2005
Hum. Mol. Genet. 2005 14: 725-733; doi:10.1093/hmg/ddi068 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Noriyuki Azuma, Keiko Tadokoro, Astuko Asaka, Masao Yamada, Yuki Yamaguchi, Hiroshi Handa, Satsuki Matsushima, Takashi Watanabe, Shinichi Kohsaka, Yasuyuki Kida, Tomoki Shiraishi, Toshihiko Ogura, Kenji Shimamura, and Masato Nakafuku

The Pax6 isoform bearing an alternative spliced exon promotes the development of the neural retinal structure
Human Molecular Genetics Advance Access published on January 27, 2005
Hum. Mol. Genet. 2005 14: 735-745; doi:10.1093/hmg/ddi069 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Guang-Hua Peng, Omar Ahmad, Faisel Ahmad, Jianfeng Liu, and Shiming Chen

The photoreceptor-specific nuclear receptor Nr2e3 interacts with Crx and exerts opposing effects on the transcription of rod versus cone genes
Human Molecular Genetics Advance Access published on February 2, 2005
Hum. Mol. Genet. 2005 14: 747-764; doi:10.1093/hmg/ddi070 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Michelle A. Poirier, Haibing Jiang, and Christopher A. Ross

A structure-based analysis of huntingtin mutant polyglutamine aggregation and toxicity: evidence for a compact beta-sheet structure
Human Molecular Genetics Advance Access published on February 2, 2005
Hum. Mol. Genet. 2005 14: 765-774; doi:10.1093/hmg/ddi071 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michihiro Imamura, Yasushi Mochizuki, Eva Engvall, and Shin'ichi Takeda

-Sarcoglycan compensates for lack of -sarcoglycan in a mouse model of limb-girdle muscular dystrophy
Human Molecular Genetics Advance Access published on February 2, 2005
Hum. Mol. Genet. 2005 14: 775-783; doi:10.1093/hmg/ddi072 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Karen N. Thatcher, Sailaja Peddada, Dag H. Yasui, and Janine M. LaSalle

Homologous pairing of 15q11–13 imprinted domains in brain is developmentally regulated but deficient in Rett and autism samples
Human Molecular Genetics Advance Access published on February 2, 2005
Hum. Mol. Genet. 2005 14: 785-797; doi:10.1093/hmg/ddi073 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Jessica C. Greene, Alexander J. Whitworth, Laurie A. Andrews, Tracey J. Parker, and Leo J. Pallanck

Genetic and genomic studies of Drosophila parkin mutants implicate oxidative stress and innate immune responses in pathogenesis
Human Molecular Genetics Advance Access published on February 2, 2005
Hum. Mol. Genet. 2005 14: 799-811; doi:10.1093/hmg/ddi074 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Michael B. Mann, Craig A. Hodges, Ellen Barnes, Hannes Vogel, Terry J. Hassold, and Guangbin Luo

Defective sister-chromatid cohesion, aneuploidy and cancer predisposition in a mouse model of type II Rothmund–Thomson syndrome
Human Molecular Genetics Advance Access published on February 9, 2005
Hum. Mol. Genet. 2005 14: 813-825; doi:10.1093/hmg/ddi075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Udo zur Stadt, Susanne Schmidt, Brigitte Kasper, Karin Beutel, A. Sarper Diler, Jan-Inge Henter, Hartmut Kabisch, Reinhard Schneppenheim, Peter Nürnberg, Gritta Janka, and Hans Christian Hennies

Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11
Human Molecular Genetics Advance Access published on February 9, 2005
Hum. Mol. Genet. 2005 14: 827-834; doi:10.1093/hmg/ddi076 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marie Castets, Céline Schaeffer, Elias Bechara, Annette Schenck, Edward W. Khandjian, Sylvie Luche, Hervé Moine, Thierry Rabilloud, Jean-Louis Mandel, and Barbara Bardoni

FMRP interferes with the Rac1 pathway and controls actin cytoskeleton dynamics in murine fibroblasts
Human Molecular Genetics Advance Access published on February 9, 2005
Hum. Mol. Genet. 2005 14: 835-844; doi:10.1093/hmg/ddi077 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Thanh T. Le, Lan T. Pham, Matthew E.R. Butchbach, Honglai L. Zhang, Umrao R. Monani, Daniel D. Coovert, Tatiana O. Gavrilina, Lei Xing, Gary J. Bassell, and Arthur H.M. Burghes

SMN7, the major product of the centromeric survival motor neuron (SMN2) gene, extends survival in mice with spinal muscular atrophy and associates with full-length SMN
Human Molecular Genetics Advance Access published on February 9, 2005
Hum. Mol. Genet. 2005 14: 845-857; doi:10.1093/hmg/ddi078 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Antonella Forlino, Rocco Piazza, Cecilia Tiveron, Sara Della Torre, Laura Tatangelo, Luisa Bonafè, Benedetta Gualeni, Assunta Romano, Fabio Pecora, Andrea Superti-Furga, Giuseppe Cetta, and Antonio Rossi

A diastrophic dysplasia sulfate transporter (SLC26A2) mutant mouse: morphological and biochemical characterization of the resulting chondrodysplasia phenotype
Human Molecular Genetics Advance Access published on February 9, 2005
Hum. Mol. Genet. 2005 14: 859-871; doi:10.1093/hmg/ddi079 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jonathan M. Houseley, Zongsheng Wang, Graham J. R. Brock, Judith Soloway, Ruben Artero, Manuel Perez-Alonso, Kevin M. C. O'Dell, and Darren G. Monckton

Myotonic dystrophy associated expanded CUG repeat muscleblind positive ribonuclear foci are not toxic to Drosophila
Human Molecular Genetics Advance Access published on February 9, 2005
Hum. Mol. Genet. 2005 14: 873-883; doi:10.1093/hmg/ddi080 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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