Human Molecular Genetics

ARTICLES

Get checked abstract Aminata Touré, Pierre Lhuillier, Jan A. Gossen, Cor W. Kuil, David Lhôte, Bernard Jégou, Denise Escalier, and Gérard Gacon

The Testis Anion Transporter 1 (Slc26a8) is required for sperm terminal differentiation and male fertility in the mouse
Human Molecular Genetics Advance Access published on May 20, 2007
Hum. Mol. Genet. 2007 16: 1783-1793; doi:10.1093/hmg/ddm117 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Paul Brennan, James McKay, Lee Moore, David Zaridze, Anush Mukeria, Neonilia Szeszenia-Dabrowska, Jolanta Lissowska, Peter Rudnai, Eleonora Fabianova, Dana Mates, Vladimir Bencko, Lenka Foretova, Vladimir Janout, Wong-Ho Chow, Nathanial Rothman, Amelie Chabrier, Valerie Gaborieau, Fabrice Odefrey, Melissa Southey, Mia Hashibe, Janet Hall, Paolo Boffetta, Julian Peto, Richard Peto, and Rayjean J. Hung

Uncommon CHEK2 mis-sense variant and reduced risk of tobacco-related cancers: case–control study
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1794-1801; doi:10.1093/hmg/ddm127 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Weimin Bi, Jiong Yan, Xin Shi, Lisa A. Yuva-Paylor, Barbara A. Antalffy, Alica Goldman, Jong W. Yoo, Jeffrey L. Noebels, Dawna L. Armstrong, Richard Paylor, and James R. Lupski

Rai1 deficiency in mice causes learning impairment and motor dysfunction, whereas Rai1 heterozygous mice display minimal behavioral phenotypes
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1802-1813; doi:10.1093/hmg/ddm128 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Lele Yang, Ranhui Duan, Dongsheng Chen, Jun Wang, Dahua Chen, and Peng Jin

Fragile X mental retardation protein modulates the fate of germline stem cells in Drosophila
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1814-1820; doi:10.1093/hmg/ddm129 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Werner Koch, Petra Hoppmann, Elena Michou, Vanessa Jung, Arne Pfeufer, Jakob C. Mueller, Christian Gieger, H.-Erich Wichmann, Thomas Meitinger, Albert Schömig, and Adnan Kastrati

Association of variants in the BAT1-NFKBIL1-LTA genomic region with protection against myocardial infarction in Europeans
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1821-1827; doi:10.1093/hmg/ddm130 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Maria Moller, Mike B. Gravenor, Stephen E. Roberts, Dejan Sun, Peisong Gao, and Julian M. Hopkin

Genetic haplotypes of Th-2 immune signalling link allergy to enhanced protection to parasitic worms
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1828-1836; doi:10.1093/hmg/ddm131 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Fanny Stutzmann, Vincent Vatin, Stéphane Cauchi, Anita Morandi, Béatrice Jouret, Olfert Landt, Patrick Tounian, Claire Levy-Marchal, Raffaella Buzzetti, Leonardo Pinelli, Beverley Balkau, Fritz Horber, Pierre Bougnères, Philippe Froguel, and David Meyre

Non-synonymous polymorphisms in melanocortin-4 receptor protect against obesity: the two facets of a Janus obesity gene
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1837-1844; doi:10.1093/hmg/ddm132 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Alexandre Kuhn, Darlene R. Goldstein, Angela Hodges, Andrew D. Strand, Thierry Sengstag, Charles Kooperberg, Kristina Becanovic, Mahmoud A. Pouladi, Kirupa Sathasivam, Jang-Ho J. Cha, Anthony J. Hannan, Michael R. Hayden, Blair R. Leavitt, Stephen B. Dunnett, Robert J. Ferrante, Roger Albin, Peggy Shelbourne, Mauro Delorenzi, Sarah J. Augood, Richard L.M. Faull, James M. Olson, Gillian P. Bates, Lesley Jones, and Ruth Luthi-Carter

Mutant huntingtin's effects on striatal gene expression in mice recapitulate changes observed in human Huntington's disease brain and do not differ with mutant huntingtin length or wild-type huntingtin dosage
Human Molecular Genetics Advance Access published on May 21, 2007
Hum. Mol. Genet. 2007 16: 1845-1861; doi:10.1093/hmg/ddm133 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Erica Scappini, Tong-Wey Koh, Negin P. Martin, and John P. O'Bryan

Intersectin enhances huntingtin aggregation and neurodegeneration through activation of c-Jun-NH₂-terminal kinase
Human Molecular Genetics Advance Access published on June 5, 2007
Hum. Mol. Genet. 2007 16: 1862-1871; doi:10.1093/hmg/ddm134 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Annelies Konings, Lut Van Laer, Malgorzata Pawelczyk, Per-Inge Carlsson, Marie-Louise Bondeson, Elzbieta Rajkowska, Adam Dudarewicz, Ann Vandevelde, Erik Fransen, Jeroen Huyghe, Erik Borg, Mariola Sliwinska-Kowalska, and Guy Van Camp

Association between variations in CAT and noise-induced hearing loss in two independent noise-exposed populations
Human Molecular Genetics Advance Access published on June 13, 2007
Hum. Mol. Genet. 2007 16: 1872-1883; doi:10.1093/hmg/ddm135 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Antoine Muchir, Paul Pavlidis, Gisèle Bonne, Yukiko K. Hayashi, and Howard J. Worman

Activation of MAPK in hearts of EMD null mice: similarities between mouse models of X-linked and autosomal dominant Emery–Dreifuss muscular dystrophy
Human Molecular Genetics Advance Access published on June 13, 2007
Hum. Mol. Genet. 2007 16: 1884-1895; doi:10.1093/hmg/ddm137 [Abstract] [Full Text] [PDF] [Request Permissions]  

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