Human Molecular Genetics

ARTICLES:

Lawrence P. Karniski

Functional expression and cellular distribution of diastrophic dysplasia sulfate transporter (DTDST) gene mutations in HEK cells
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2165-2171; doi:10.1093/hmg/ddh242 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matthew W. Nash, Patricia Huezo-Diaz, Richard J. Williamson, Abraham Sterne, Shaun Purcell, Farzana Hoda, Stacey S. Cherny, Gonçalo R. Abecasis, Martin Prince, Jeffrey A. Gray, David Ball, Philip Asherson, Anthony Mann, David Goldberg, Peter McGuffin, Anne Farmer, Robert Plomin, Ian W. Craig, and Pak C. Sham

Genome-wide linkage analysis of a composite index of neuroticism and mood-related scales in extreme selected sibships
Human Molecular Genetics Advance Access published on September 6, 2004
Hum. Mol. Genet. 2004 13: 2173-2182; doi:10.1093/hmg/ddh239 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Minako Tateno, Hisako Sadakata, Mika Tanaka, Shigeyoshi Itohara, Ryong-Moon Shin, Masami Miura, Masao Masuda, Toshihiko Aosaki, Makoto Urushitani, Hidemi Misawa, and Ryosuke Takahashi

Calcium-permeable AMPA receptors promote misfolding of mutant SOD1 protein and development of amyotrophic lateral sclerosis in a transgenic mouse model
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2183-2196; doi:10.1093/hmg/ddh246 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Xiaowei Ma, Simonetta Bacci, Wojciech Mlynarski, Lucia Gottardo, Teresa Soccio, Claudia Menzaghi, Elisabetta Iori, Robert A. Lager, Adhir R. Shroff, Ernest V. Gervino, Richard W. Nesto, Michael T. Johnstone, Nada A. Abumrad, Angelo Avogaro, Vincenzo Trischitta, and Alessandro Doria

A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians
Human Molecular Genetics Advance Access published on July 28, 2004
Hum. Mol. Genet. 2004 13: 2197-2205; doi:10.1093/hmg/ddh233 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Raul Perez-Olle, Sidonie T. Jones, and Ronald K.H. Liem

Phenotypic analysis of neurofilament light gene mutations linked to Charcot-Marie-Tooth disease in cell culture models
Human Molecular Genetics Advance Access published on July 28, 2004
Hum. Mol. Genet. 2004 13: 2207-2220; doi:10.1093/hmg/ddh236 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Senji Shirasawa, Haruhito Harada, Koichi Furugaki, Takashi Akamizu, Naofumi Ishikawa, Kunihiko Ito, Koichi Ito, Hajime Tamai, Kanji Kuma, Sumihisa Kubota, Hitomi Hiratani, Tomoko Tsuchiya, Iwai Baba, Mayuko Ishikawa, Masao Tanaka, Kenji Sakai, Masayuki Aoki, Ken Yamamoto, and Takehiko Sasazuki

SNPs in the promoter of a B cell-specific antisense transcript, SAS-ZFAT, determine susceptibility to autoimmune thyroid disease
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2221-2231; doi:10.1093/hmg/ddh245 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Thanh H. Vu, Tao Li, and Andrew R. Hoffman

Promoter-restricted histone code, not the differentially methylated DNA regions or antisense transcripts, marks the imprinting status of IGF2R in human and mouse
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2233-2245; doi:10.1093/hmg/ddh244 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sudha Sharma, Joshua A. Sommers, and Robert M. Brosh, Jr

In vivo function of the conserved non-catalytic domain of Werner syndrome helicase in DNA replication
Human Molecular Genetics Advance Access published on July 28, 2004
Hum. Mol. Genet. 2004 13: 2247-2261; doi:10.1093/hmg/ddh234 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Toshio Hamatani, Geppino Falco, Mark G. Carter, Hidenori Akutsu, Carole A. Stagg, Alexei A. Sharov, Dawood B. Dudekula, Vincent VanBuren, and Minoru S.H. Ko

Age-associated alteration of gene expression patterns in mouse oocytes
Human Molecular Genetics Advance Access published on August 18, 2004
Hum. Mol. Genet. 2004 13: 2263-2278; doi:10.1093/hmg/ddh241 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Alessandro Campanella, Grazia Isaya, Heather A. O'Neill, Paolo Santambrogio, Anna Cozzi, Paolo Arosio, and Sonia Levi

The expression of human mitochondrial ferritin rescues respiratory function in frataxin-deficient yeast
Human Molecular Genetics Advance Access published on July 28, 2004
Hum. Mol. Genet. 2004 13: 2279-2288; doi:10.1093/hmg/ddh232 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

V. Ashley Cantrell, Sarah E. Owens, Ronald L. Chandler, David C. Airey, Kevin M. Bradley, Jeffrey R. Smith, and E. Michelle Southard-Smith

Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10^Dom mouse model of Hirschsprung disease
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2289-2301; doi:10.1093/hmg/ddh243 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carla Oliveira, Jantine L. Westra, Diego Arango, Miina Ollikainen, Enric Domingo, Ana Ferreira, Sérgia Velho, Renee Niessen, Kristina Lagerstedt, Pia Alhopuro, Paivi Laiho, Isabel Veiga, Manuel R. Teixeira, Marjolijn Ligtenberg, Jan H. Kleibeuker, Rolf H. Sijmons, John T. Plukker, Kohzoh Imai, Pedro Lage, Richard Hamelin, Cristina Albuquerque, Simo Schwartz, Jr, Annika Lindblom, Päivi Peltomaki, Hiroyuki Yamamoto, Lauri A. Aaltonen, Raquel Seruca, and Robert M.W. Hofstra

Distinct patterns of KRAS mutations in colorectal carcinomas according to germline mismatch repair defects and hMLH1 methylation status
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2303-2311; doi:10.1093/hmg/ddh238 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Omar A. Ibrahimi, Fuming Zhang, Anna V. Eliseenkova, Nobuyuki Itoh, Robert J. Linhardt, and Moosa Mohammadi

Biochemical analysis of pathogenic ligand-dependent FGFR2 mutations suggests distinct pathophysiological mechanisms for craniofacial and limb abnormalities
Human Molecular Genetics Advance Access published on July 28, 2004
Hum. Mol. Genet. 2004 13: 2313-2324; doi:10.1093/hmg/ddh235 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Liisa Koivukoski, Sheila A. Fisher, Timo Kanninen, Cathryn M. Lewis, Fredrik von Wowern, Steven Hunt, Sharon L.R. Kardia, Daniel Levy, Markus Perola, Tuomo Rankinen, Dabeeru C. Rao, Treva Rice, Bonnie A. Thiel, and Olle Melander

Meta-analysis of genome-wide scans for hypertension and blood pressure in Caucasians shows evidence of susceptibility regions on chromosomes 2 and 3
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2325-2332; doi:10.1093/hmg/ddh237 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

H.J. Ditton, J. Zimmer, C. Kamp, E. Rajpert-De Meyts, and P.H. Vogt

The AZFa gene DBY (DDX3Y) is widely transcribed but the protein is limited to the male germ cells by translation control
Human Molecular Genetics Advance Access published on August 4, 2004
Hum. Mol. Genet. 2004 13: 2333-2341; doi:10.1093/hmg/ddh240 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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