Human Molecular Genetics

ARTICLES:

Rob Willemsen, Marianne Hoogeveen-Westerveld, Surya Reis, Joan Holstege, Lies-Anne W.F.M. Severijnen, Ingeborg M. Nieuwenhuizen, Mariette Schrier, Leontine van Unen, Flora Tassone, Andre T. Hoogeveen, Paul J. Hagerman, Edwin J. Mientjes, and Ben A. Oostra

The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
Hum. Mol. Genet. 2003 12: 949-959; doi:10.1093/hmg/ddg114 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shunji Tomatsu, Koji O. Orii, Carole Vogler, Jeffrey H. Grubb, Elizabeth M. Snella, Monica Gutierrez, Tatiana Dieter, Christopher C. Holden, Kazuko Sukegawa, Tadao Orii, Naomi Kondo, and William S. Sly

Production of MPS VII mouse (Gus^{tm(hE540A·mE536A)Sly}) doubly tolerant to human and mouse ß-glucuronidase
Hum. Mol. Genet. 2003 12: 961-973; doi:10.1093/hmg/ddg119 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yan Yang, Barbara J. Beyer, James F. Otto, Timothy P. O'Brien, Verity A. Letts, H. Steve White, and Wayne N. Frankel

Spontaneous deletion of epilepsy gene orthologs in a mutant mouse with a low electroconvulsive threshold
Hum. Mol. Genet. 2003 12: 975-984; doi:10.1093/hmg/ddg118 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Brinda Ravikumar, Abigail Stewart, Hiroko Kita, Kikuya Kato, Rainer Duden, and David C. Rubinsztein

Raised intracellular glucose concentrations reduce aggregation and cell death caused by mutant huntingtin exon 1 by decreasing mTOR phosphorylation and inducing autophagy
Hum. Mol. Genet. 2003 12: 985-994; doi:10.1093/hmg/ddg109 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takayuki Kudo, Shigeo Kure, Katsuhisa Ikeda, An-Ping Xia, Yukio Katori, Masaaki Suzuki, Kanako Kojima, Akiko Ichinohe, Yoichi Suzuki, Yoko Aoki, Toshimitsu Kobayashi, and Yoichi Matsubara

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness
Hum. Mol. Genet. 2003 12: 995-1004; doi:10.1093/hmg/ddg116 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Philippe Arnaud, David Monk, Megan Hitchins, Emma Gordon, Wendy Dean, Colin V. Beechey, Jo Peters, William Craigen, Michael Preece, Philip Stanier, Gudrun E. Moore, and Gavin Kelsey

Conserved methylation imprints in the human and mouse GRB10 genes with divergent allelic expression suggests differential reading of the same mark
Hum. Mol. Genet. 2003 12: 1005-1019; doi:10.1093/hmg/ddg110 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Taurai Nenguke, Mirit I. Aladjem, James F. Gusella, Nancy S. Wexler, The Venezuela HD Project, and Norman Arnheim

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci
Hum. Mol. Genet. 2003 12: 1021-1028; doi:10.1093/hmg/ddg111 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Sakae Ikeda, Leslie A. Cunningham, Dawnalyn Boggess, Craig D. Hobson, John P. Sundberg, Jürgen K. Naggert, Richard S. Smith, and Patsy M. Nishina

Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor)
Hum. Mol. Genet. 2003 12: 1029-1036; doi:10.1093/hmg/ddg112 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Terrence S. Furey and David Haussler

Integration of the cytogenetic map with the draft human genome sequence
Hum. Mol. Genet. 2003 12: 1037-1044; doi:10.1093/hmg/ddg113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nathalie Petit, Alain Lescure, Mathieu Rederstorff, Alain Krol, Behzad Moghadaszadeh, Ulla M. Wewer, and Pascale Guicheney

Selenoprotein N: an endoplasmic reticulum glycoprotein with an early developmental expression pattern
Hum. Mol. Genet. 2003 12: 1045-1053; doi:10.1093/hmg/ddg115 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marco Montagna, Maurizia Dalla Palma, Chiara Menin, Simona Agata, Arcangela De Nicolo, Luigi Chieco-Bianchi, and Emma D'Andrea

Genomic rearrangements account for more than one-third of the BRCA1 mutations in northern Italian breast/ovarian cancer families
Hum. Mol. Genet. 2003 12: 1055-1061; doi:10.1093/hmg/ddg120 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sylvia G. Lehmann, Jean-Marie Wurtz, Jean-Paul Renaud, Paolo Sassone-Corsi, and Enzo Lalli

Structure–function analysis reveals the molecular determinants of the impaired biological function of DAX-1 mutants in AHC patients
Hum. Mol. Genet. 2003 12: 1063-1072; doi:10.1093/hmg/ddg108 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Samuel G. Jacobson, Artur V. Cideciyan, Tomas S. Aleman, Michael J. Pianta, Alexander Sumaroka, Sharon B. Schwartz, Elaine E. Smilko, Ann H. Milam, Val C. Sheffield, and Edwin M. Stone

Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination
Hum. Mol. Genet. 2003 12: 1073-1078; doi:10.1093/hmg/ddg117 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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