Human Molecular Genetics

ARTICLES:

Maria Björkqvist, Malin Fex, Erik Renström, Nils Wierup, Åsa Petersén, Joana Gil, Karl Bacos, Natalija Popovic, Jia-Yi Li, Frank Sundler, Patrik Brundin, and Hindrik Mulder

The R6/2 transgenic mouse model of Huntington's disease develops diabetes due to deficient ß-cell mass and exocytosis
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 565-574; doi:10.1093/hmg/ddi053 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroshi Masuya, Kunihiko Shimizu, Hideki Sezutsu, Yoshiyuki Sakuraba, Junko Nagano, Aya Shimizu, Naomi Fujimoto, Akiko Kawai, Ikuo Miura, Hideki Kaneda, Kimio Kobayashi, Junko Ishijima, Takahide Maeda, Yoichi Gondo, Tetsuo Noda, Shigeharu Wakana, and Toshihiko Shiroishi

Enamelin (Enam) is essential for amelogenesis: ENU-induced mouse mutants as models for different clinical subtypes of human amelogenesis imperfecta (AI)
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 575-583; doi:10.1093/hmg/ddi054 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Kirsten Heathcote, Claire Braybrook, Lulu Abushaban, Michelle Guy, Maher E. Khetyar, Michael A. Patton, Nicholas D. Carter, Peter J. Scambler, and Petros Syrris

Common arterial trunk associated with a homeodomain mutation of NKX2.6
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 585-593; doi:10.1093/hmg/ddi055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ian J. Donaldson, Michael Chapman, Sarah Kinston, Josette Renée Landry, Kathy Knezevic, Sandie Piltz, Noel Buckley, Anthony R. Green, and Berthold Göttgens

Genome-wide identification of cis-regulatory sequences controlling blood and endothelial development
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 595-601; doi:10.1093/hmg/ddi056 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sandra Rebouissou, Viorel Vasiliu, Cristel Thomas, Christine Bellanné-Chantelot, Hung Bui, Yves Chrétien, José Timsit, Christophe Rosty, Pierre Laurent-Puig, Dominique Chauveau, and Jessica Zucman-Rossi

Germline hepatocyte nuclear factor 1 and 1ß mutations in renal cell carcinomas
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 603-614; doi:10.1093/hmg/ddi057 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aya Leder, Jennifer McMenamin, Karen Fontaine, Alexander Bishop, and Philip Leder

^–/– Thalassemic mice are affected by two modifying loci and display unanticipated somatic recombination leading to inherited variation
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 615-625; doi:10.1093/hmg/ddi058 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Syann Lee, Christine L. Walker, Barbara Karten, Sharee L. Kuny, Alysa A. Tennese, Megan A. O'Neill, and Rachel Wevrick

Essential role for the Prader–Willi syndrome protein necdin in axonal outgrowth
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 627-637; doi:10.1093/hmg/ddi059 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiaofeng Zhu, Laura Fejerman, Amy Luke, Adebowale Adeyemo, and Richard S. Cooper

Haplotypes produced from rare variants in the promoter and coding regions of angiotensinogen contribute to variation in angiotensinogen levels
Human Molecular Genetics Advance Access published on January 13, 2005
Hum. Mol. Genet. 2005 14: 639-643; doi:10.1093/hmg/ddi060 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Géraldine Mollet, Flora Silbermann, Marion Delous, Rémi Salomon, Corinne Antignac, and Sophie Saunier

Characterization of the nephrocystin/nephrocystin-4 complex and subcellular localization of nephrocystin-4 to primary cilia and centrosomes
Human Molecular Genetics Advance Access published on January 20, 2005
Hum. Mol. Genet. 2005 14: 645-656; doi:10.1093/hmg/ddi061 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martin Brockington, Silvia Torelli, Paola Prandini, Chiara Boito, Nazanin F. Dolatshad, Cheryl Longman, Susan C. Brown, and Francesco Muntoni

Localization and functional analysis of the LARGE family of glycosyltransferases: significance for muscular dystrophy
Human Molecular Genetics Advance Access published on January 20, 2005
Hum. Mol. Genet. 2005 14: 657-665; doi:10.1093/hmg/ddi062 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Bruce J. Herron, Cherie Rao, Shanming Liu, Lisa Laprade, James A. Richardson, Emily Olivieri, Chris Semsarian, Sarah E. Millar, Lisa Stubbs, and David R. Beier

A mutation in NFkB interacting protein 1 results in cardiomyopathy and abnormal skin development in wa3 mice
Human Molecular Genetics Advance Access published on January 20, 2005
Hum. Mol. Genet. 2005 14: 667-677; doi:10.1093/hmg/ddi063 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aaron B. Bowman, Seung-Yun Yoo, Nico P. Dantuma, and Huda Y. Zoghbi

Neuronal dysfunction in a polyglutamine disease model occurs in the absence of ubiquitin–proteasome system impairment and inversely correlates with the degree of nuclear inclusion formation
Human Molecular Genetics Advance Access published on January 20, 2005
Hum. Mol. Genet. 2005 14: 679-691; doi:10.1093/hmg/ddi064 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Niall G. Howlett, Toshiyasu Taniguchi, Sandra G. Durkin, Alan D. D'Andrea, and Thomas W. Glover

The Fanconi anemia pathway is required for the DNA replication stress response and for the regulation of common fragile site stability
Human Molecular Genetics Advance Access published on January 20, 2005
Hum. Mol. Genet. 2005 14: 693-701; doi:10.1093/hmg/ddi065 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jorge Esparza-Gordillo, Elena Goicoechea de Jorge, Alfonso Buil, Luis Carreras Berges, Margarita López-Trascasa, Pilar Sánchez-Corral, and Santiago Rodríguez de Córdoba

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
Human Molecular Genetics Advance Access published on January 20, 2005
Hum. Mol. Genet. 2005 14: 703-712; doi:10.1093/hmg/ddi066 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jean-Charles Liévens, Thomas Rival, Magali Iché, Hervé Chneiweiss, and Serge Birman

Expanded polyglutamine peptides disrupt EGF receptor signaling and glutamate transporter expression in Drosophila
Human Molecular Genetics Advance Access published on January 27, 2005
Hum. Mol. Genet. 2005 14: 713-724; doi:10.1093/hmg/ddi067 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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