Human Molecular Genetics

ARTICLES:

Karin Roesch, Sean P. Curran, Lisbeth Tranebjaerg, and Carla M. Koehler

Human deafness dystonia syndrome is caused by a defect in assembly of the DDP1/TIMM8a–TIMM13 complex
Hum. Mol. Genet. 2002 11: 477-486; doi:10.1093/hmg/11.5.477 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carola J. M. Bontekoe, Kellie L. McIlwain, Ingeborg M. Nieuwenhuizen, Lisa A. Yuva-Paylor, Anna Nellis, Rob Willemsen, Zhe Fang, Laura Kirkpatrick, Cathy E. Bakker, Robin McAninch, Ngan Ching Cheng, Michelle Merriweather, Andre T. Hoogeveen, David Nelson, Richard Paylor, and Ben A. Oostra

Knockout mouse model for Fxr2: a model for mental retardation
Hum. Mol. Genet. 2002 11: 487-498; doi:10.1093/hmg/11.5.487 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aurora Pujol, Colette Hindelang, Noëlle Callizot, Udo Bartsch, Melitta Schachner, and Jean Louis Mandel

Late onset neurological phenotype of the X-ALD gene inactivation in mice: a mouse model for adrenomyeloneuropathy
Hum. Mol. Genet. 2002 11: 499-505; doi:10.1093/hmg/11.5.499 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bo Chang, Xin Wang, Norman L. Hawes, Ryan Ojakian, Muriel T. Davisson, Woo-Kuen Lo, and Xiaohua Gong

A Gja8 (Cx50) point mutation causes an alteration of 3 connexin (Cx46) in semi-dominant cataracts of Lop10 mice
Hum. Mol. Genet. 2002 11: 507-513; doi:10.1093/hmg/11.5.507 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christine K. Bailey, Isabella F. M. Andriola, Harm H. Kampinga, and Diane E. Merry

Molecular chaperones enhance the degradation of expanded polyglutamine repeat androgen receptor in a cellular model of spinal and bulbar muscular atrophy
Hum. Mol. Genet. 2002 11: 515-523; doi:10.1093/hmg/11.5.515 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David J. Kwiatkowski, Hongbing Zhang, Jennifer L. Bandura, Kristina M. Heiberger, Michael Glogauer, Nisreen el-Hashemite, and Hiroaki Onda

A mouse model of TSC1 reveals sex-dependent lethality from liver hemangiomas, and up-regulation of p70S6 kinase activity in Tsc1 null cells
Hum. Mol. Genet. 2002 11: 525-534; doi:10.1093/hmg/11.5.525 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Janet M. Young, Cynthia Friedman, Eleanor M. Williams, Joseph A. Ross, Lori Tonnes-Priddy, and Barbara J. Trask

Different evolutionary processes shaped the mouse and human olfactory receptor gene families
Hum. Mol. Genet. 2002 11: 535-546; doi:10.1093/hmg/11.5.535 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Avril Kennan, Aileen Aherne, Arpad Palfi, Marian Humphries, Alex McKee, Alan Stitt, David A. C. Simpson, Karin Demtroder, Torben Orntoft, Carmen Ayuso, Paul F. Kenna, G. Jane Farrar, and Pete Humphries

Identification of an IMPDH1 mutation in autosomal dominant retinitis pigmentosa (RP10) revealed following comparative microarray analysis of transcripts derived from retinas of wild-type and Rho^–/– mice
Hum. Mol. Genet. 2002 11: 547-558; doi:10.1093/hmg/11.5.547 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sara J. Bowne, Lori S. Sullivan, Susan H. Blanton, Constance L. Cepko, Seth Blackshaw, David G. Birch, Dianna Hughbanks-Wheaton, John R. Heckenlively, and Stephen P. Daiger

Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 2002 11: 559-568; doi:10.1093/hmg/11.5.559 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ladina Joos, Jian-Qing He, Megan B. Shepherdson, John E. Connett, Nicholas R. Anthonisen, Peter D. Paré, and Andrew J. Sandford

The role of matrix metalloproteinase polymorphisms in the rate of decline in lung function
Hum. Mol. Genet. 2002 11: 569-576; doi:10.1093/hmg/11.5.569 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Philip J. Young, Christine J. DiDonato, Diane Hu, Rashmi Kothary, Elliot J. Androphy, and Christian L. Lorson

SRp30c-dependent stimulation of survival motor neuron (SMN) exon 7 inclusion is facilitated by a direct interaction with hTra2ß1
Hum. Mol. Genet. 2002 11: 577-587; doi:10.1093/hmg/11.5.577 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kati Asumalahti, Colin Veal, Tarja Laitinen, Sari Suomela, Michael Allen, Outi Elomaa, Michael Moser, Rafael de Cid, Samuli Ripatti, Igor Vorechovsky, Jan A. Marcusson, Hidemi Nakagawa, Conxi Lazaro, Xavier Estivill, Francesca Capon, Giuseppe Novelli, The Psoriasis Consortium, Ulpu Saarialho-Kere, Jonathan Barker, Richard Trembath, and Juha Kere

Coding haplotype analysis supports HCR as the putative susceptibility gene for psoriasis at the MHC PSORS1 locus
Hum. Mol. Genet. 2002 11: 589-597; doi:10.1093/hmg/11.5.589 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vibeke Westphal, Susanne Kjaergaard, Els Schollen, Kevin Martens, Stephanie Grunewald, Marianne Schwartz, Gert Matthijs, and Hudson H. Freeze

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency
Hum. Mol. Genet. 2002 11: 599-604; doi:10.1093/hmg/11.5.599 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Zhenglin Yang, Neal S. Peachey, Darius M. Moshfeghi, Sukanya Thirumalaichary, Lou Chorich, Yin Y. Shugart, Keke Fan, and Kang Zhang

Mutations in the RPGR gene cause X-linked cone dystrophy
Hum. Mol. Genet. 2002 11: 605-611; doi:10.1093/hmg/11.5.605 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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