Human Molecular Genetics

ARTICLES

Get checked abstract Kazuhito Toyo-Oka, Shinji Sasaki, Yoshihisa Yano, Daisuke Mori, Takuya Kobayashi, Yoko Y. Toyoshima, Suzumi M. Tokuoka, Satoshi Ishii, Takao Shimizu, Masami Muramatsu, Noriko Hiraiwa, Atsushi Yoshiki, Anthony Wynshaw-Boris, and Shinji Hirotsune

Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration
Human Molecular Genetics Advance Access published on October 3, 2005
Hum. Mol. Genet. 2005 14: 3113-3128; doi:10.1093/hmg/ddi339 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Claire A. Parsons, H. Joel Mroczkowski, Fiona E.A. McGuigan, Omar M.E. Albagha, Stavros Manolagas, David M. Reid, Stuart H. Ralston, and Robert J. Shmookler Reis

Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22
Human Molecular Genetics Advance Access published on September 23, 2005
Hum. Mol. Genet. 2005 14: 3141-3148; doi:10.1093/hmg/ddi346 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Tom Van Agtmael, Ursula Schlötzer-Schrehardt, Lisa McKie, David G. Brownstein, Angela W. Lee, Sally H. Cross, Yoshikazu Sado, John J. Mullins, Ernst Pöschl, and Ian J. Jackson

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy
Human Molecular Genetics Advance Access published on September 13, 2005
Hum. Mol. Genet. 2005 14: 3161-3168; doi:10.1093/hmg/ddi348 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Alessandro Pecci, Ilaria Canobbio, Alessandra Balduini, Lucia Stefanini, Barbara Cisterna, Carmela Marseglia, Patrizia Noris, Anna Savoia, Carlo L. Balduini, and Mauro Torti

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations
Human Molecular Genetics Advance Access published on September 14, 2005
Hum. Mol. Genet. 2005 14: 3169-3178; doi:10.1093/hmg/ddi344 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Terry P. Maddatu, Sean M. Garvey, David G. Schroeder, Wiedong Zhang, Soh-Yule Kim, Anthony I. Nicholson, Crystal J. Davis, and Gregory A. Cox

Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival
Human Molecular Genetics Advance Access published on September 20, 2005
Hum. Mol. Genet. 2005 14: 3179-3189; doi:10.1093/hmg/ddi349 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Lev Y. Yampolsky, Fyodor A. Kondrashov, and Alexey S. Kondrashov

Distribution of the strength of selection against amino acid replacements in human proteins
Human Molecular Genetics Advance Access published on September 20, 2005
Hum. Mol. Genet. 2005 14: 3191-3201; doi:10.1093/hmg/ddi350 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract M. Sardiello, I. Annunziata, G. Roma, and A. Ballabio

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship
Human Molecular Genetics Advance Access published on September 20, 2005
Hum. Mol. Genet. 2005 14: 3203-3217; doi:10.1093/hmg/ddi351 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Guiqing Huang, Sheryl Krig, David Kowbel, Hongmei Xu, Bill Hyun, Stas Volik, Burt Feuerstein, Gordon B. Mills, David Stokoe, Paul Yaswen, and Colin Collins

ZNF217 suppresses cell death associated with chemotherapy and telomere dysfunction
Human Molecular Genetics Advance Access published on October 3, 2005
Hum. Mol. Genet. 2005 14: 3219-3225; doi:10.1093/hmg/ddi352 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Andrea Rivera, Sheila A. Fisher, Lars G. Fritsche, Claudia N. Keilhauer, Peter Lichtner, Thomas Meitinger, and Bernhard H.F. Weber

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk
Human Molecular Genetics Advance Access published on September 20, 2005
Hum. Mol. Genet. 2005 14: 3227-3236; doi:10.1093/hmg/ddi353 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Deanna A. Kulpa and John V. Moran

Ribonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition
Human Molecular Genetics Advance Access published on September 23, 2005
Hum. Mol. Genet. 2005 14: 3237-3248; doi:10.1093/hmg/ddi354 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Karl Hackmann, Arseni Markoff, Feng Qian, Nadia Bogdanova, Gregory G. Germino, Petra Pennekamp, Bernd Dworniczak, Jürgen Horst, and Volker Gerke

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1
Human Molecular Genetics Advance Access published on September 28, 2005
Hum. Mol. Genet. 2005 14: 3249-3262; doi:10.1093/hmg/ddi356 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jean-Jacques Brière, Judith Favier, Paule Bénit, Vincent El Ghouzzi, Annalisa Lorenzato, Daniel Rabier, Maria Flavia Di Renzo, Anne-Paule Gimenez-Roqueplo, and Pierre Rustin

Mitochondrial succinate is instrumental for HIF1 nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions
Human Molecular Genetics Advance Access published on September 29, 2005
Hum. Mol. Genet. 2005 14: 3263-3269; doi:10.1093/hmg/ddi359 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Dung Vu, Corinne Di Sanza, Dorothée Caille, Philippe de Moerloose, Holger Scheib, Paolo Meda, and Marguerite Neerman-Arbez

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia
Human Molecular Genetics Advance Access published on September 29, 2005
Hum. Mol. Genet. 2005 14: 3271-3280; doi:10.1093/hmg/ddi360 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Rosa Rademakers, Stacey Melquist, Marc Cruts, Jessie Theuns, Jurgen Del-Favero, Parvoneh Poorkaj, Matt Baker, Kristel Sleegers, Richard Crook, Tim De Pooter, Samira Bel Kacem, Jennifer Adamson, Dirk Van den Bossche, Marleen Van den Broeck, Jennifer Gass, Ellen Corsmit, Peter De Rijk, Natalie Thomas, Sebastiaan Engelborghs, Michael Heckman, Irene Litvan, Julia Crook, Peter P. De Deyn, Dennis Dickson, Gerard D. Schellenberg, Christine Van Broeckhoven, and Michael L. Hutton

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy
Human Molecular Genetics Advance Access published on September 29, 2005
Hum. Mol. Genet. 2005 14: 3281-3292; doi:10.1093/hmg/ddi361 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract François Deschênes, Laurent Massip, Chantal Garand, and Michel Lebel

In vivo misregulation of genes involved in apoptosis, development and oxidative stress in mice lacking both functional Werner syndrome protein and poly(ADP-ribose) polymerase-1
Human Molecular Genetics Advance Access published on September 29, 2005
Hum. Mol. Genet. 2005 14: 3293-3308; doi:10.1093/hmg/ddi362 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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