Human Molecular Genetics

ARTICLES:

Haibing Jiang, Frederick C. Nucifora, Jr, Christopher A. Ross, and Donald B. DeFranco

Cell death triggered by polyglutamine-expanded huntingtin in a neuronal cell line is associated with degradation of CREB-binding protein
Hum. Mol. Genet. 2003 12: 1-12; doi:10.1093/hmg/ddg002 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Barbara Teubner, Vincent Michel, Jörg Pesch, Jürgen Lautermann, Martine Cohen-Salmon, Goran Söhl, Klaus Jahnke, Elke Winterhager, Claus Herberhold, Jean-Pierre Hardelin, Christine Petit, and Klaus Willecke

Connexin30 (Gjb6)-deficiency causes severe hearing impairment and lack of endocochlear potential
Hum. Mol. Genet. 2003 12: 13-21; doi:10.1093/hmg/ddg001 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Deborah Blacker, Lars Bertram, Aleister J. Saunders, Thomas J. Moscarillo, Marilyn S. Albert, Howard Wiener, Rodney T. Perry, Julianne S. Collins, Lindy E. Harrell, Rodney C.P. Go, Amy Mahoney, Terri Beaty, M. Danielle Fallin, Dimitrios Avramopoulos, Gary A. Chase, Marshal F. Folstein, Melvin G. McInnis, Susan S. Bassett, Kimberly J. Doheny, Elizabeth W. Pugh, and Rudolph E. Tanzi

Results of a high-resolution genome screen of 437 Alzheimer's Disease families
Hum. Mol. Genet. 2003 12: 23-32; doi:10.1093/hmg/ddg007 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liisa Kauppi, Antti Sajantila, and Alec J. Jeffreys

Recombination hotspots rather than population history dominate linkage disequilibrium in the MHC class II region
Hum. Mol. Genet. 2003 12: 33-40; doi:10.1093/hmg/ddg008 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Randell T. Libby, Darren G. Monckton, Ying-Hui Fu, Refugio A. Martinez, John P. McAbney, R. Lau, David D. Einum, K. Nichol, Carol B. Ware, Louis J. Ptacek, Christopher E. Pearson, and Albert R. La Spada

Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice
Hum. Mol. Genet. 2003 12: 41-50; doi:10.1093/hmg/ddg006 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Teppo Varilo, Tiina Paunio, Alex Parker, Markus Perola, Joanne Meyer, Joseph D. Terwilliger, and Leena Peltonen

The interval of linkage disequilibrium (LD) detected with microsatellite and SNP markers in chromosomes of Finnish populations with different histories
Hum. Mol. Genet. 2003 12: 51-59; doi:10.1093/hmg/ddg005 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Leonard D. Shultz, Bonnie L. Lyons, Lisa M. Burzenski, Bruce Gott, Rebecca Samuels, Peter A. Schweitzer, Christine Dreger, Harald Herrmann, Vera Kalscheuer, Ada L. Olins, Donald E. Olins, Karl Sperling, and Katrin Hoffmann

Mutations at the mouse ichthyosis locus are within the lamin B receptor gene: a single gene model for human Pelger–Huët anomaly
Hum. Mol. Genet. 2003 12: 61-69; doi:10.1093/hmg/ddg003 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Delphine Charvin, Carmen Cifuentes-Diaz, Nuria Fonknechten, Vandana Joshi, Jamilé Hazan, Judith Melki, and Sandrine Betuing

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus
Hum. Mol. Genet. 2003 12: 71-78; doi:10.1093/hmg/ddg004 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Clotilde Levecque, Alexis Elbaz, Jacqueline Clavel, Florence Richard, Jean-Sébastien Vidal, Philippe Amouyel, Christophe Tzourio, Annick Alpérovitch, and Marie-Christine Chartier-Harlin

Association between Parkinson's disease and polymorphisms in the nNOS and iNOS genes in a community-based case–control study
Hum. Mol. Genet. 2003 12: 79-86; doi:10.1093/hmg/ddg009 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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