Human Molecular Genetics

ARTICLES:

Edwin J. Mientjes, Rob Willemsen, Laura L. Kirkpatrick, Ingeborg M. Nieuwenhuizen, Marianne Hoogeveen-Westerveld, Marcel Verweij, Surya Reis, Barbara Bardoni, Andre T. Hoogeveen, Ben A. Oostra, and David L. Nelson

Fxr1 knockout mice show a striated muscle phenotype: implications for Fxr1p function in vivo
Human Molecular Genetics Advance Access published on May 5, 2004
Hum. Mol. Genet. 2004 13: 1291-1302; doi:10.1093/hmg/ddh150 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pamela L. Paris, Armann Andaya, Jane Fridlyand, Ajay N. Jain, Vivian Weinberg, David Kowbel, John H. Brebner, Jeff Simko, J.E. Vivienne Watson, Stas Volik, Donna G. Albertson, Daniel Pinkel, Janneke C. Alers, Theodorus H. van der Kwast, Kees J. Vissers, Fritz H. Schroder, Mark F. Wildhagen, Phillip G. Febbo, Arul M. Chinnaiyan, Kenneth J. Pienta, Peter R. Carroll, Mark A. Rubin, Colin Collins, and Herman van Dekken

Whole genome scanning identifies genotypes associated with recurrence and metastasis in prostate tumors
Human Molecular Genetics Advance Access published on May 11, 2004
Hum. Mol. Genet. 2004 13: 1303-1313; doi:10.1093/hmg/ddh155 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Leanne M. Dibbens, Hua-Jun Feng, Michaella C. Richards, Louise A. Harkin, Bree L. Hodgson, Darren Scott, Misty Jenkins, Steven Petrou, Grant R. Sutherland, Ingrid E. Scheffer, Samuel F. Berkovic, Robert L. Macdonald, and John C. Mulley

GABRD encoding a protein for extra- or peri-synaptic GABA_A receptors is a susceptibility locus for generalized epilepsies
Human Molecular Genetics Advance Access published on April 28, 2004
Hum. Mol. Genet. 2004 13: 1315-1319; doi:10.1093/hmg/ddh146 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jos Tournoy, Xavier Bossuyt, An Snellinx, Marleen Regent, Marian Garmyn, Lutgarde Serneels, Paul Saftig, Katleen Craessaerts, Bart De Strooper, and Dieter Hartmann

Partial loss of presenilins causes seborrheic keratosis and autoimmune disease in mice
Human Molecular Genetics Advance Access published on May 5, 2004
Hum. Mol. Genet. 2004 13: 1321-1331; doi:10.1093/hmg/ddh151 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kenji Amano, Haruhiko Sago, Chiharu Uchikawa, Taishi Suzuki, Svetlana E. Kotliarova, Nobuyuki Nukina, Charles J. Epstein, and Kazuhiro Yamakawa

Dosage-dependent over-expression of genes in the trisomic region of Ts1Cje mouse model for Down syndrome
Human Molecular Genetics Advance Access published on May 11, 2004
Hum. Mol. Genet. 2004 13: 1333-1340; doi:10.1093/hmg/ddh154 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ewa Ninio, David Tregouet, Jean-Luc Carrier, Dominique Stengel, Christoph Bickel, Claire Perret, Hans J. Rupprecht, François Cambien, Stefan Blankenberg, and Laurence Tiret

Platelet-activating factor-acetylhydrolase and PAF-receptor gene haplotypes in relation to future cardiovascular event in patients with coronary artery disease
Human Molecular Genetics Advance Access published on April 28, 2004
Hum. Mol. Genet. 2004 13: 1341-1351; doi:10.1093/hmg/ddh145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kelan G. Tantisira, Stephen Lake, Eric S. Silverman, Lyle J. Palmer, Ross Lazarus, Edwin K. Silverman, Stephen B. Liggett, Erwin W. Gelfand, Lanny J. Rosenwasser, Brent Richter, Elliot Israel, Michael Wechsler, Stacey Gabriel, David Altshuler, Eric Lander, Jeffrey Drazen, and Scott T. Weiss

Corticosteroid pharmacogenetics: association of sequence variants in CRHR1 with improved lung function in asthmatics treated with inhaled corticosteroids
Human Molecular Genetics Advance Access published on May 5, 2004
Hum. Mol. Genet. 2004 13: 1353-1359; doi:10.1093/hmg/ddh149 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Vasiliki Kalatzis, Nathalie Nevo, Stéphanie Cherqui, Bruno Gasnier, and Corinne Antignac

Molecular pathogenesis of cystinosis: effect of CTNS mutations on the transport activity and subcellular localization of cystinosin
Human Molecular Genetics Advance Access published on May 5, 2004
Hum. Mol. Genet. 2004 13: 1361-1371; doi:10.1093/hmg/ddh152 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

I. Kramerova, E. Kudryashova, J.G. Tidball, and Melissa J. Spencer

Null mutation of calpain 3 (p94) in mice causes abnormal sarcomere formation in vivo and in vitro
Human Molecular Genetics Advance Access published on May 11, 2004
Hum. Mol. Genet. 2004 13: 1373-1388; doi:10.1093/hmg/ddh153 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David G. Hay, Kirupa Sathasivam, Sönke Tobaben, Bernd Stahl, Michael Marber, Ruben Mestril, Amarbirpal Mahal, Donna L. Smith, Ben Woodman, and Gillian P. Bates

Progressive decrease in chaperone protein levels in a mouse model of Huntington's disease and induction of stress proteins as a therapeutic approach
Human Molecular Genetics Advance Access published on April 28, 2004
Hum. Mol. Genet. 2004 13: 1389-1405; doi:10.1093/hmg/ddh144 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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