Human Molecular Genetics

ARTICLES:

Shuji Momose, Toshiyuki Kobayashi, Hiroaki Mitani, Masumi Hirabayashi, Kazumi Ito, Masatsugu Ueda, Yo-ichi Nabeshima, and Okio Hino

Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system
Hum. Mol. Genet. 2002 11: 2997-3006; doi:10.1093/hmg/11.24.2997 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rachid Mazroui, Marc-Etienne Huot, Sandra Tremblay, Christine Filion, Yves Labelle, and Edouard W. Khandjian

Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression
Hum. Mol. Genet. 2002 11: 3007-3017; doi:10.1093/hmg/11.24.3007 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kenneth R. Wilund, Ming Yi, Filomena Campagna, Marcello Arca, Giovanni Zuliani, Renato Fellin, Yiu-Kee Ho, J. Victor Garcia, Helen H. Hobbs, and Jonathan C. Cohen

Molecular mechanisms of autosomal recessive hypercholesterolemia
Hum. Mol. Genet. 2002 11: 3019-3030; doi:10.1093/hmg/11.24.3019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Len A. Pennacchio, Michael Olivier, Jaroslav A. Hubacek, Ronald M. Krauss, Edward M. Rubin, and Jonathan C. Cohen

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels
Hum. Mol. Genet. 2002 11: 3031-3038; doi:10.1093/hmg/11.24.3031 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Philippa J. Talmud, Emma Hawe, Steve Martin, Michael Olivier, George J. Miller, Edward M. Rubin, Len A. Pennacchio, and Steve E. Humphries

Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides
Hum. Mol. Genet. 2002 11: 3039-3046; doi:10.1093/hmg/11.24.3039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alexander I. Agoulnik, Baisong Lu, Qichao Zhu, Cavatina Truong, Maria T. Ty, Nelson Arango, Kiran K. Chada, and Colin E. Bishop

A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd
Hum. Mol. Genet. 2002 11: 3047-3053; doi:10.1093/hmg/11.24.3047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matthias L. Jauslin, Thomas Wirth, Thomas Meier, and Fabrice Schoumacher

A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy
Hum. Mol. Genet. 2002 11: 3055-3063; doi:10.1093/hmg/11.24.3055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Celene Grayson, Francesca Bartolini, J. Paul Chapple, Keith R. Willison, Arunashree Bhamidipati, Sally A. Lewis, Philip J. Luthert, Alison J. Hardcastle, Nicholas J. Cowan, and Michael E. Cheetham

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3
Hum. Mol. Genet. 2002 11: 3065-3074; doi:10.1093/hmg/11.24.3065 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christian Paratore, Christof Eichenberger, Ueli Suter, and Lukas Sommer

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease
Hum. Mol. Genet. 2002 11: 3075-3085; doi:10.1093/hmg/11.24.3075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John Ealing, Richard Webster, Sharon Brownlow, Amr Abdelgany, Hans Oosterhuis, Francesco Muntoni, David J. Vaux, Angela Vincent, and David Beeson

Mutations in congenital myasthenic syndromes reveal an subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR
Hum. Mol. Genet. 2002 11: 3087-3096; doi:10.1093/hmg/11.24.3087 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tao Wang, Caroline T. Waters, Alex M.K. Rothman, Tracy J. Jakins, Karin Römisch, and Dorothy Trump

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis
Hum. Mol. Genet. 2002 11: 3097-3105; doi:10.1093/hmg/11.24.3097 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stacie K. Loftus, Robert P. Erickson, Steven U. Walkley, Mark A. Bryant, Arturo Incao, Randall A. Heidenreich, and William J. Pavan

Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene
Hum. Mol. Genet. 2002 11: 3107-3114; doi:10.1093/hmg/11.24.3107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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