Human Molecular Genetics

ARTICLES:

Dmitry A. Varlamov, Alexei P. Kudin, Stefan Vielhaber, Rolf Schröder, Robert Sassen, Albert Becker, Dagmar Kunz, Karsten Haug, Johannes Rebstock, Armin Heils, Christian E. Elger, and Wolfram S. Kunz

Metabolic consequences of a novel missense mutation of the mtDNA CO I gene
Hum. Mol. Genet. 2002 11: 1797-1805; doi:10.1093/hmg/11.16.1797 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Scott Q. Harper, Robert W. Crawford, Christiana DelloRusso, and Jeffrey S. Chamberlain

Spectrin-like repeats from dystrophin and -actinin-2 are not functionally interchangeable
Hum. Mol. Genet. 2002 11: 1807-1815; doi:10.1093/hmg/11.16.1807 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sharon L. Coleman, Paul R. Buckland, Bastiaan Hoogendoorn, Carol Guy, Kaye Smith, and Michael C. O'Donovan

Experimental analysis of the annotation of promoters in the public database
Hum. Mol. Genet. 2002 11: 1817-1821; doi:10.1093/hmg/11.16.1817 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Duska J. Sidjanin, Jennifer K. Lowe, John L. McElwee, Bruce S. Milne, Taryn M. Phippen, David R. Sargan, Gustavo D. Aguirre, Gregory M. Acland, and Elaine A. Ostrander

Canine CNGB3 mutations establish cone degeneration as orthologous to the human achromatopsia locus ACHM3
Hum. Mol. Genet. 2002 11: 1823-1833; doi:10.1093/hmg/11.16.1823 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xin Jie Chen

Induction of an unregulated channel by mutations in adenine nucleotide translocase suggests an explanation for human ophthalmoplegia
Hum. Mol. Genet. 2002 11: 1835-1843; doi:10.1093/hmg/11.16.1835 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Guanqing Wu, Xin Tian, Sayoko Nishimura, Glen S. Markowitz, Vivette D'Agati, Jong Hoon Park, Lili Yao, Li Li, Lin Geng, Hongyu Zhao, Winfried Edelmann, and Stefan Somlo

Trans-heterozygous Pkd1 and Pkd2 mutations modify expression of polycystic kidney disease
Hum. Mol. Genet. 2002 11: 1845-1854; doi:10.1093/hmg/11.16.1845 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christina K. Haston, Min Wang, Robert E. Dejournett, Xinhui Zhou, Dan Ni, Xiangjun Gu, Terri M. King, Michael M. Weil, Robert A. Newman, Christopher I. Amos, and Elizabeth L. Travis

Bleomycin hydrolase and a genetic locus within the MHC affect risk for pulmonary fibrosis in mice
Hum. Mol. Genet. 2002 11: 1855-1863; doi:10.1093/hmg/11.16.1855 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

S. Adinolfi, M. Trifuoggi, A. S. Politou, S. Martin, and A. Pastore

A structural approach to understanding the iron-binding properties of phylogenetically different frataxins
Hum. Mol. Genet. 2002 11: 1865-1877; doi:10.1093/hmg/11.16.1865 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shuhei Kameya, Norman L. Hawes, Bo Chang, John R. Heckenlively, Jürgen K. Naggert, and Patsy M. Nishina

Mfrp, a gene encoding a frizzled related protein, is mutated in the mouse retinal degeneration 6
Hum. Mol. Genet. 2002 11: 1879-1886; doi:10.1093/hmg/11.16.1879 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kristina L. Mitchem, Ellen Hibbard, Lisa A. Beyer, Ken Bosom, Gary A. Dootz, David F. Dolan, Kenneth R. Johnson, Yehoash Raphael, and David C. Kohrman

Mutation of the novel gene Tmie results in sensory cell defects in the inner ear of spinner, a mouse model of human hearing loss DFNB6
Hum. Mol. Genet. 2002 11: 1887-1898; doi:10.1093/hmg/11.16.1887 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Timur A. Mavlyutov, Haiyan Zhao, and Paulo A. Ferreira

Species-specific subcellular localization of RPGR and RPGRIP isoforms: implications for the phenotypic variability of congenital retinopathies among species
Hum. Mol. Genet. 2002 11: 1899-1907; doi:10.1093/hmg/11.16.1899 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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