Human Molecular Genetics

ARTICLES

Get checked abstract Nicolas Pottier, Meyling H. Cheok, Wenjian Yang, Mahfoud Assem, Lorraine Tracey, John C. Obenauer, John C. Panetta, Mary V. Relling, and William E. Evans

Expression of SMARCB1 modulates steroid sensitivity in human lymphoblastoid cells: identification of a promoter snp that alters PARP1 binding and SMARCB1 expression
Human Molecular Genetics Advance Access published on July 5, 2007
Hum. Mol. Genet. 2007 16: 2261-2271; doi:10.1093/hmg/ddm178 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Yuzuru Kato, Masahiro Kaneda, Kenichiro Hata, Kenji Kumaki, Mizue Hisano, Yuji Kohara, Masaki Okano, En Li, Masami Nozaki, and Hiroyuki Sasaki

Role of the Dnmt3 family in de novo methylation of imprinted and repetitive sequences during male germ cell development in the mouse
Human Molecular Genetics Advance Access published on July 6, 2007
Hum. Mol. Genet. 2007 16: 2272-2280; doi:10.1093/hmg/ddm179 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Max Ingman and Ulf Gyllensten

Rate variation between mitochondrial domains and adaptive evolution in humans
Human Molecular Genetics Advance Access published on July 6, 2007
Hum. Mol. Genet. 2007 16: 2281-2287; doi:10.1093/hmg/ddm180 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Cheney J.G. Drew, Rachel J. Kyd, and A. Jennifer Morton

Complexin 1 knockout mice exhibit marked deficits in social behaviours but appear to be cognitively normal
Human Molecular Genetics Advance Access published on July 24, 2007
Hum. Mol. Genet. 2007 16: 2288-2305; doi:10.1093/hmg/ddm181 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Hiroshi Sembongi, Miriam Di Re, Monika Bokori-Brown, and Ian J. Holt

The yeast Holliday junction resolvase, CCE1, can restore wild-type mitochondrial DNA to human cells carrying rearranged mitochondrial DNA
Human Molecular Genetics Advance Access published on July 31, 2007
Hum. Mol. Genet. 2007 16: 2306-2314; doi:10.1093/hmg/ddm182 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Matías Alvarez-Saavedra, Mauricio A. Sáez, Dongcheul Kang, Huda Y. Zoghbi, and Juan I. Young

Cell-specific expression of wild-type MeCP2 in mouse models of Rett syndrome yields insight about pathogenesis
Human Molecular Genetics Advance Access published on July 17, 2007
Hum. Mol. Genet. 2007 16: 2315-2325; doi:10.1093/hmg/ddm185 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Oyinkan A. Sofola, Peng Jin, Juan Botas, and David L. Nelson

Argonaute-2-dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat
Human Molecular Genetics Advance Access published on July 17, 2007
Hum. Mol. Genet. 2007 16: 2326-2332; doi:10.1093/hmg/ddm186 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Athena Matakidou, Rachid el Galta, Emily L. Webb, Matthew F. Rudd, Helen Bridle, the GELCAPS Consortium, Tim Eisen, and Richard S. Houlston

Genetic variation in the DNA repair genes is predictive of outcome in lung cancer
Hum. Mol. Genet. 2007 16: 2333-2340; doi:10.1093/hmg/ddm190 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Ian J. Jackson, Peter S. Budd, Margaret Keighren, and Lisa McKie

Humanized MC1R transgenic mice reveal human specific receptor function
Human Molecular Genetics Advance Access published on July 25, 2007
Hum. Mol. Genet. 2007 16: 2341-2348; doi:10.1093/hmg/ddm191 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Robert Morse, Debra J. Shaw, Adrian G. Todd, and Philip J. Young

Targeting of SMN to Cajal bodies is mediated by self-association
Human Molecular Genetics Advance Access published on July 17, 2007
Hum. Mol. Genet. 2007 16: 2349-2358; doi:10.1093/hmg/ddm192 [Abstract] [Full Text] [PDF] [Request Permissions]  

Get checked abstract Robin Lemmens, Annelies Van Hoecke, Nicole Hersmus, Veerle Geelen, Isabel D'Hollander, Vincent Thijs, Ludo Van Den Bosch, Peter Carmeliet, and Wim Robberecht

Overexpression of mutant superoxide dismutase 1 causes a motor axonopathy in the zebrafish
Human Molecular Genetics Advance Access published on July 17, 2007
Hum. Mol. Genet. 2007 16: 2359-2365; doi:10.1093/hmg/ddm193 [Abstract] [Full Text] [PDF] [Supplementary Data] [Request Permissions]  

Get checked abstract Hiroshi Masuya, Keiichiro Nishida, Tatsuya Furuichi, Hideaki Toki, Gen Nishimura, Hidehiko Kawabata, Haruka Yokoyama, Aki Yoshida, Sayaka Tominaga, Junko Nagano, Aya Shimizu, Shigeharu Wakana, Yoichi Gondo, Tetsuo Noda, Toshihiko Shiroishi, and Shiro Ikegawa

A novel dominant-negative mutation in Gdf5 generated by ENU mutagenesis impairs joint formation and causes osteoarthritis in mice
Human Molecular Genetics Advance Access published on July 26, 2007
Hum. Mol. Genet. 2007 16: 2366-2375; doi:10.1093/hmg/ddm195 [Abstract] [Full Text] [PDF] [Request Permissions]  

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