Human Molecular Genetics

ARTICLES:

Qi Zhang, Gregory M. Acland, Wen X. Wu, Jennifer L. Johnson, Sue Pearce-Kelling, Brian Tulloch, Raf Vervoort, Alan F. Wright, and Gustavo D. Aguirre

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration
Hum. Mol. Genet. 2002 11: 993-1003; doi:10.1093/hmg/11.9.993 [Abstract] [FREE Full Text] [PDF] [ ] [Request Permissions]  

Niamh McNally, Paul F. Kenna, Derrick Rancourt, Tanweer Ahmed, Alan Stitt, William H. Colledge, David G. Lloyd, Arpad Palfi, Brian O'Neill, Marian M. Humphries, Peter Humphries, and G. Jane Farrar

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene
Hum. Mol. Genet. 2002 11: 1005-1016; doi:10.1093/hmg/11.9.1005 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Suzie Lefebvre, Philippe Burlet, Louis Viollet, Solange Bertrandy, Céline Huber, Caroline Belser, and Arnold Munnich

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy
Hum. Mol. Genet. 2002 11: 1017-1027; doi:10.1093/hmg/11.9.1017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elise Héon, Alex Greenberg, Kelly K. Kopp, David Rootman, Andrea L. Vincent, Gail Billingsley, Megan Priston, Kimberley M. Dorval, Robert L. Chow, Roderick R. McInnes, Godfrey Heathcote, Carol Westall, John E. Sutphin, Elena Semina, Rod Bremner, and Edwin M. Stone

VSX1: A gene for posterior polymorphous dystrophy and keratoconus
Hum. Mol. Genet. 2002 11: 1029-1036; doi:10.1093/hmg/11.9.1029 [Abstract] [FREE Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Chris P. Ponting, Mike Hutton, Andrew Nyborg, Matthew Baker, Karen Jansen, and Todd E. Golde

Identification of a novel family of presenilin homologues
Hum. Mol. Genet. 2002 11: 1037-1044; doi:10.1093/hmg/11.9.1037 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shigeru Sato, Miwa Nakamura, Diane H. Cho, Stephen J. Tapscott, Hidenori Ozaki, and Kiyoshi Kawakami

Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1
Hum. Mol. Genet. 2002 11: 1045-1058; doi:10.1093/hmg/11.9.1045 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Delvac Oceandy, Brendan J. McMorran, Stephen N. Smith, Rainer Schreiber, Karl Kunzelmann, Eric W.F.W. Alton, David A. Hume, and Brandon J. Wainwright

Gene complementation of airway epithelium in the cystic fibrosis mouse is necessary and sufficient to correct the pathogen clearance and inflammatory abnormalities
Hum. Mol. Genet. 2002 11: 1059-1067; doi:10.1093/hmg/11.9.1059 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carina K. Mårdh, Birgitta Bäckman, Gösta Holmgren, Jan C.-C. Hu, James P. Simmer, and Kristina Forsman-Semb

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2)
Hum. Mol. Genet. 2002 11: 1069-1074; doi:10.1093/hmg/11.9.1069 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cemal K. Cemal, Christopher J. Carroll, Lorraine Lawrence, Margaret B. Lowrie, Piers Ruddle, Sahar Al-Mahdawi, Rosalind H.M. King, Mark A. Pook, Clare Huxley, and Susan Chamberlain

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit
Hum. Mol. Genet. 2002 11: 1075-1094; doi:10.1093/hmg/11.9.1075 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Laura E. Warner, Christiana DelloRusso, Robert W. Crawford, Inna N. Rybakova, Jitandrakumar R. Patel, James M. Ervasti, and Jeffrey S. Chamberlain

Expression of Dp260 in muscle tethers the actin cytoskeleton to the dystrophin–glycoprotein complex and partially prevents dystrophy
Hum. Mol. Genet. 2002 11: 1095-1105; doi:10.1093/hmg/11.9.1095 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Brinda Ravikumar, Rainer Duden, and David C. Rubinsztein

Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy
Hum. Mol. Genet. 2002 11: 1107-1117; doi:10.1093/hmg/11.9.1107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

José M. Morante-Redolat, Ana Gorostidi-Pagola, Salomé Piquer-Sirerol, Amets Sáenz, Juan J. Poza, Juan Galán, Stefan Gesk, Theologia Sarafidou, Victor-F. Mautner, Simona Binelli, Eike Staub, Bernd Hinzmann, Lisa French, Jean-F. Prud'homme, Daniela Passarelli, Paolo Scannapieco, Carlo A. Tassinari, Giuliano Avanzini, José F. Martí-Massó, Lan Kluwe, Panagiotis Deloukas, Nicholas K. Moschonas, Roberto Michelucci, Reiner Siebert, Carlo Nobile, Jordi Pérez-Tur, and Adolfo López de Munain

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy
Hum. Mol. Genet. 2002 11: 1119-1128; doi:10.1093/hmg/11.9.1119 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jens Böse, Lars Grotewold, and Ulrich Rüther

Pallister–Hall syndrome phenotype in mice mutant for Gli3
Hum. Mol. Genet. 2002 11: 1129-1135; doi:10.1093/hmg/11.9.1129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andreas Wyttenbach, Olivier Sauvageot, Jenny Carmichael, Chantal Diaz-Latoud, Andre-Patrik Arrigo, and David C. Rubinsztein

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin
Hum. Mol. Genet. 2002 11: 1137-1151; doi:10.1093/hmg/11.9.1137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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