Human Molecular Genetics

ARTICLES:

Kazuhiro Nakamura, Yan Xiu, Mareki Ohtsuji, Gen Sugita, Masaaki Abe, Naomi Ohtsuji, Yoshitomo Hamano, Yi Jiang, Noriko Takahashi, Toshikazu Shirai, Hiroyuki Nishimura, and Sachiko Hirose

Genetic dissection of anxiety in autoimmune disease
Hum. Mol. Genet. 2003 12: 1079-1086; doi:10.1093/hmg/ddg128 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Carmen Bertoni, Catherine Lau, and Thomas A. Rando

Restoration of dystrophin expression in mdx muscle cells by chimeraplast-mediated exon skipping
Hum. Mol. Genet. 2003 12: 1087-1099; doi:10.1093/hmg/ddg133 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ole P. Kristiansen, Runa L. Nolsøe, Lykke Larsen, Anette M.P. Gjesing, Jesper Johannesen, Zenia M. Larsen, Anne E. Lykkesfeldt, Allan E. Karlsen, Flemming Pociot, Thomas Mandrup-Poulsen, DIEGG, and DSGD

Association of a functional 17ß-estradiol sensitive IL6-174G/C promoter polymorphism with early-onset type 1 diabetes in females
Hum. Mol. Genet. 2003 12: 1101-1110; doi:10.1093/hmg/ddg132 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Franco Pagani, Cristiana Stuani, Maria Tzetis, Emmanuel Kanavakis, Alexandra Efthymiadou, Stavros Doudounakis, Teresa Casals, and Francisco E. Baralle

New type of disease causing mutations: the example of the composite exonic regulatory elements of splicing in CFTR exon 12
Hum. Mol. Genet. 2003 12: 1111-1120; doi:10.1093/hmg/ddg131 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kathleen Freson, Jaak Jaeken, Monique Van Helvoirt, Francis de Zegher, Christine Wittevrongel, Chantal Thys, Marc F. Hoylaerts, Jos Vermylen, and Chris Van Geet

Functional polymorphisms in the paternally expressed XLs and its cofactor ALEX decrease their mutual interaction and enhance receptor-mediated cAMP formation
Hum. Mol. Genet. 2003 12: 1121-1130; doi:10.1093/hmg/ddg130 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xiao-Yan Wen, Robert A. Hegele, Jian Wang, Ding Yan Wang, Joseph Cheung, Michael Wilson, Maryam Yahyapour, Yahong Bai, Lihua Zhuang, Jennifer Skaug, T. Kue Young, Philip W. Connelly, Ben F. Koop, Lap-Chee Tsui, and A. Keith Stewart

Identification of a novel lipase gene mutated in lpd mice with hypertriglyceridemia and associated with dyslipidemia in humans
Hum. Mol. Genet. 2003 12: 1131-1143; doi:10.1093/hmg/ddg124 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ann K. Heinzer, Paul A. Watkins, Jyh-Feng Lu, Stephan Kemp, Ann B. Moser, Yuan Yuan Li, Stephanie Mihalik, James M. Powers, and Kirby D. Smith

A very long-chain acyl-CoA synthetase-deficient mouse and its relevance to X-linked adrenoleukodystrophy
Hum. Mol. Genet. 2003 12: 1145-1154; doi:10.1093/hmg/ddg126 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xue Zhong Liu, Xiao Mei Ouyang, Xia Juan Xia, Jing Zheng, Arti Pandya, Fang Li, Li Lin Du, Katherine O. Welch, Christine Petit, Richard J.H. Smith, Bradley T. Webb, Denise Yan, Kathleen S. Arnos, David Corey, Peter Dallos, Walter E. Nance, and Zheng Yi Chen

Prestin, a cochlear motor protein, is defective in non-syndromic hearing loss
Hum. Mol. Genet. 2003 12: 1155-1162; doi:10.1093/hmg/ddg127 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Brian E. Davy and Michael L. Robinson

Congenital hydrocephalus in hy3 mice is caused by a frameshift mutation in Hydin, a large novel gene
Hum. Mol. Genet. 2003 12: 1163-1170; doi:10.1093/hmg/ddg122 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nicole Monnier, Ana Ferreiro, Isabelle Marty, Annick Labarre-Vila, Paulette Mezin, and Joel Lunardi

A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia
Hum. Mol. Genet. 2003 12: 1171-1178; doi:10.1093/hmg/ddg121 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Benjamin M. Kriederman, Teressa L. Myloyde, Marlys H. Witte, Susan L. Dagenais, Charles L. Witte, Margaret Rennels, Michael J. Bernas, Michelle T. Lynch, Robert P. Erickson, Mark S. Caulder, Naoyuki Miura, David Jackson, Brian P. Brooks, and Thomas W. Glover

FOXC2 haploinsufficient mice are a model for human autosomal dominant lymphedema-distichiasis syndrome
Hum. Mol. Genet. 2003 12: 1179-1185; doi:10.1093/hmg/ddg123 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Françoise Gofflot, Carine Hars, Françoise Illien, Françoise Chevy, Claude Wolf, Jacques J. Picard, and Charles Roux

Molecular mechanisms underlying limb anomalies associated with cholesterol deficiency during gestation: implications of Hedgehog signaling
Hum. Mol. Genet. 2003 12: 1187-1198; doi:10.1093/hmg/ddg129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Lyle J. Palmer, Juan C. Celedón, Harold A. Chapman, Frank E. Speizer, Scott T. Weiss, and Edwin K. Silverman

Genome-wide linkage analysis of bronchodilator responsiveness and post-bronchodilator spirometric phenotypes in chronic obstructive pulmonary disease
Hum. Mol. Genet. 2003 12: 1199-1210; doi:10.1093/hmg/ddg125 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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