Human Molecular Genetics

ARTICLES:

Yutaka Ohsawa, Haruhiro Toko, Masashi Katsura, Kazue Morimoto, Haruki Yamada, Yaeko Ichikawa, Tatsufumi Murakami, Seitaro Ohkuma, Issei Komuro, and Yoshihide Sunada

Overexpression of P104L mutant caveolin-3 in mice develops hypertrophic cardiomyopathy with enhanced contractility in association with increased endothelial nitric oxide synthase activity
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 151-157; doi:10.1093/hmg/ddh014 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joanna L. Jankowsky, Daniel J. Fadale, Jeffrey Anderson, Guilian M. Xu, Victoria Gonzales, Nancy A. Jenkins, Neal G. Copeland, Michael K. Lee, Linda H. Younkin, Steven L. Wagner, Steven G. Younkin, and David R. Borchelt

Mutant presenilins specifically elevate the levels of the 42 residue ß-amyloid peptide in vivo: evidence for augmentation of a 42-specific secretase
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 159-170; doi:10.1093/hmg/ddh019 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Na Li, Kazuhiro Nakamura, Yi Jiang, Hiromichi Tsurui, Shuji Matsuoka, Masaaki Abe, Mareki Ohtsuji, Hiroyuki Nishimura, Kiyoshi Kato, Takako Kawai, Tatsuya Atsumi, Takao Koike, Toshikazu Shirai, Hiroo Ueno, and Sachiko Hirose

Gain-of-function polymorphism in mouse and human Ltk: implications for the pathogenesis of systemic lupus erythematosus
Hum. Mol. Genet. 2004 13: 171-179; doi:10.1093/hmg/ddh020 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hirotake Hino, Kimi Araki, Eiichiro Uyama, Motohiro Takeya, Masatake Araki, Kumiko Yoshinobu, Koichiro Miike, Yasuhiro Kawazoe, Yasushi Maeda, Makoto Uchino, and Ken-ichi Yamamura

Myopathy phenotype in transgenic mice expressing mutated PABPN1 as a model of oculopharyngeal muscular dystrophy
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 181-190; doi:10.1093/hmg/ddh017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kathryn Woodfine, Heike Fiegler, David M. Beare, John E. Collins, Owen T. McCann, Bryan D. Young, Silvana Debernardi, Richard Mott, Ian Dunham, and Nigel P. Carter

Replication timing of the human genome
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 191-202; doi:10.1093/hmg/ddh016 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Atul Mohindra, Emma Bolderson, Jason Stone, Michael Wells, Thomas Helleday, and Mark Meuth

A tumour-derived mutant allele of XRCC2 preferentially suppresses homologous recombination at DNA replication forks
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 203-212; doi:10.1093/hmg/ddh022 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S. Abmayr, R.W. Crawford, and J.S. Chamberlain

Characterization of ARC, apoptosis repressor interacting with CARD, in normal and dystrophin-deficient skeletal muscle
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 213-221; doi:10.1093/hmg/ddh018 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jim Vadolas, Hady Wardan, Michael Orford, Robert Williamson, and Panayiotis A. Ioannou

Cellular genomic reporter assays for screening and evaluation of inducers of fetal hemoglobin
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 223-233; doi:10.1093/hmg/ddh023 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jamie A. Davies, Michael Ladomery, Peter Hohenstein, Lydia Michael, Anna Shafe, Lee Spraggon, and Nick Hastie

Development of an siRNA-based method for repressing specific genes in renal organ culture and its use to show that the Wt1 tumour suppressor is required for nephron differentiation
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 235-246; doi:10.1093/hmg/ddh015 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Adele Murrell, Sarah Heeson, Wendy N. Cooper, Eleanor Douglas, Sophia Apostolidou, Gudrun E. Moore, Eamonn R. Maher, and Wolf Reik

An association between variants in the IGF2 gene and Beckwith–Wiedemann syndrome: interaction between genotype and epigenotype
Human Molecular Genetics Advance Access published on November 25, 2003
Hum. Mol. Genet. 2004 13: 247-255; doi:10.1093/hmg/ddh013 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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