Human Molecular Genetics

ARTICLES:

Pietro Pichierri, Dietrich Averbeck, and Filippo Rosselli

DNA cross-link-dependent RAD50/MRE11/NBS1 subnuclear assembly requires the Fanconi anemia C protein
Hum. Mol. Genet. 2002 11: 2531-2546; doi:10.1093/hmg/11.21.2531 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jan Modregger, Nicholas A. DiProspero, Vinod Charles, Danilo A. Tagle, and Markus Plomann

PACSIN 1 interacts with huntingtin and is absent from synaptic varicosities in presymptomatic Huntington's disease brains
Hum. Mol. Genet. 2002 11: 2547-2558; doi:10.1093/hmg/11.21.2547 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

M. Helen Rajpar, Martin J. Koch, Robin M. Davies, Kieran T. Mellody, Cay M. Kielty, and Michael J. Dixon

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization
Hum. Mol. Genet. 2002 11: 2559-2565; doi:10.1093/hmg/11.21.2559 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrizia D'Adamo, Hans Welzl, Stavros Papadimitriou, Marina Raffaele di Barletta, Cecilia Tiveron, Laura Tatangelo, Laura Pozzi, Paul F. Chapman, Simon G. Knevett, Mark F. Ramsay, Flavia Valtorta, Chiara Leoni, Andrea Menegon, David P. Wolfer, Hans-Peter Lipp, and Daniela Toniolo

Deletion of the mental retardation gene Gdi1 impairs associative memory and alters social behavior in mice
Hum. Mol. Genet. 2002 11: 2567-2580; doi:10.1093/hmg/11.21.2567 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paul F.J. Koppens, Theo Hoogenboezem, and Herman J. Degenhart

Carriership of a defective tenascin-X gene in steroid 21-hydroxylase deficiency patients: TNXB –TNXA hybrids in apparent large-scale gene conversions
Hum. Mol. Genet. 2002 11: 2581-2590; doi:10.1093/hmg/11.21.2581 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alexandra Folias, Mara Matkovic, Donald Bruun, Sonja Reid, James Hejna, Markus Grompe, Alan D'Andrea, and Robb Moses

BRCA1 interacts directly with the Fanconi anemia protein FANCA
Hum. Mol. Genet. 2002 11: 2591-2597; doi:10.1093/hmg/11.21.2591 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Richard H. Duerr, M. Michael Barmada, Leilei Zhang, Jean-Paul Achkar, Judy H. Cho, Stephen B. Hanauer, Steven R. Brant, Theodore M. Bayless, Robert N. Baldassano, and Daniel E. Weeks

Evidence for an inflammatory bowel disease locus on chromosome 3p26: linkage, transmission/disequilibrium and partitioning of linkage
Hum. Mol. Genet. 2002 11: 2599-2606; doi:10.1093/hmg/11.21.2599 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Francis Vasseur, Nicole Helbecque, Christian Dina, Stéphane Lobbens, Valérie Delannoy, Stéphane Gaget, Philippe Boutin, Martine Vaxillaire, Frédéric Leprêtre, Sophie Dupont, Kazuo Hara, Karine Clément, Bernard Bihain, Takashi Kadowaki, and Philippe Froguel

Single-nucleotide polymorphism haplotypes in the both proximal promoter and exon 3 of the APM1 gene modulate adipocyte-secreted adiponectin hormone levels and contribute to the genetic risk for type 2 diabetes in French Caucasians
Hum. Mol. Genet. 2002 11: 2607-2614; doi:10.1093/hmg/11.21.2607 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dieter Hartmann, Bart de Strooper, Lutgarde Serneels, Katleen Craessaerts, An Herreman, Wim Annaert, Lieve Umans, Torben Lübke, Anna Lena Illert, Kurt von Figura, and Paul Saftig

The disintegrin/metalloprotease ADAM 10 is essential for Notch signalling but not for -secretase activity in fibroblasts
Hum. Mol. Genet. 2002 11: 2615-2624; doi:10.1093/hmg/11.21.2615 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pnina Rotman-Pikielny, Koret Hirschberg, Padma Maruvada, Koichi Suzuki, Ines E. Royaux, Eric D. Green, Leonard D. Kohn, Jennifer Lippincott-Schwartz, and Paul M. Yen

Retention of pendrin in the endoplasmic reticulum is a major mechanism for Pendred syndrome
Hum. Mol. Genet. 2002 11: 2625-2633; doi:10.1093/hmg/11.21.2625 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Geoffrey Duby, Françoise Foury, Anna Ramazzotti, Johannes Herrmann, and Thomas Lutz

A non-essential function for yeast frataxin in iron–sulfur cluster assembly
Hum. Mol. Genet. 2002 11: 2635-2643; doi:10.1093/hmg/11.21.2635 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Melissa J. Spencer and Ronald L. Mellgren

Overexpression of a calpastatin transgene in mdx muscle reduces dystrophic pathology
Hum. Mol. Genet. 2002 11: 2645-2655; doi:10.1093/hmg/11.21.2645 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Parsa Kazemi-Esfarjani and Seymour Benzer

Suppression of polyglutamine toxicity by a Drosophila homolog of myeloid leukemia factor 1
Hum. Mol. Genet. 2002 11: 2657-2672; doi:10.1093/hmg/11.21.2657 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paul J. Holzfeind, Prabhjit K. Grewal, Herbert A. Reitsamer, Jasmin Kechvar, Hans Lassmann, Harald Hoeger, Jane E. Hewitt, and Reginald E. Bittner

Skeletal, cardiac and tongue muscle pathology, defective retinal transmission, and neuronal migration defects in the Large^myd mouse defines a natural model for glycosylation-deficient muscle – eye – brain disorders
Hum. Mol. Genet. 2002 11: 2673-2687; doi:10.1093/hmg/11.21.2673 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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