Human Molecular Genetics

ARTICLES:

Yoshiaki Kikkawa, Hiroshi Shitara, Shigeharu Wakana, Yuki Kohara, Toyoyuki Takada, Mieko Okamoto, Choji Taya, Kazusaku Kamiya, Yasuhiro Yoshikawa, Hisashi Tokano, Ken Kitamura, Kunihiko Shimizu, Yuichi Wakabayashi, Toshihiko Shiroishi, Ryo Kominami, and Hiromichi Yonekawa

Mutations in a new scaffold protein Sans cause deafness in Jackson shaker mice
Hum. Mol. Genet. 2003 12: 453-461; doi:10.1093/hmg/ddg042 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dominique Weil, Aziz El-Amraoui, Saber Masmoudi, Mirna Mustapha, Yoshiaki Kikkawa, Sophie Lainé, Sedigheh Delmaghani, Avital Adato, Sellama Nadifi, Zeineb Ben Zina, Christian Hamel, Andreas Gal, Hammadi Ayadi, Hiromichi Yonekawa, and Christine Petit

Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin
Hum. Mol. Genet. 2003 12: 463-471; doi:10.1093/hmg/ddg051 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sudha Srinivasan, Martha A. Hanes, Tayeashai Dickens, Mary E. M. Porteous, S. Paul Oh, Laura P. Hale, and Douglas A. Marchuk

A mouse model for hereditary hemorrhagic telangiectasia (HHT) type 2
Hum. Mol. Genet. 2003 12: 473-482; doi:10.1093/hmg/ddg050 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Ralph Nawrotzki, Michael Willem, Nicolai Miosge, Heinrich Brinkmeier, and Ulrike Mayer

Defective integrin switch and matrix composition at alpha 7-deficient myotendinous junctions precede the onset of muscular dystrophy in mice
Hum. Mol. Genet. 2003 12: 483-495; doi:10.1093/hmg/ddg047 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Silvia Gines, Ihn Sik Seong, Elisa Fossale, Elena Ivanova, Flavia Trettel, James F. Gusella, Vanessa C. Wheeler, Francesca Persichetti, and Marcy E. MacDonald

Specific progressive cAMP reduction implicates energy deficit in presymptomatic Huntington's disease knock-in mice
Hum. Mol. Genet. 2003 12: 497-508; doi:10.1093/hmg/ddg046 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yangjun Qin, Christophe Poirier, Cavatina Truong, Armin Schumacher, Alexander I. Agoulnik, and Colin E. Bishop

A major locus on mouse chromosome 18 controls XX sex reversal in Odd Sex (Ods) mice
Hum. Mol. Genet. 2003 12: 509-515; doi:10.1093/hmg/ddg045 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Frédéric Darios, Olga Corti, Christoph B. Lücking, Cornelia Hampe, Marie-Paule Muriel, Nacer Abbas, Wen-Jie Gu, Etienne C. Hirsch, Thomas Rooney, Merle Ruberg, and Alexis Brice

Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death
Hum. Mol. Genet. 2003 12: 517-526; doi:10.1093/hmg/ddg044 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kiyomi Taniguchi, Kazuhiro Kobayashi, Kayoko Saito, Hideo Yamanouchi, Akira Ohnuma, Yukiko K. Hayashi, Hiroshi Manya, Dong Kyu Jin, Munhyang Lee, Enrico Parano, Raffaele Falsaperla, Piero Pavone, Rudy Van Coster, Beril Talim, Alice Steinbrecher, Volker Straub, Ichizo Nishino, Haluk Topaloglu, Thomas Voit, Tamao Endo, and Tatsushi Toda

Worldwide distribution and broader clinical spectrum of muscle–eye–brain disease
Hum. Mol. Genet. 2003 12: 527-534; doi:10.1093/hmg/ddg043 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gary A. Ulaner, Thanh H. Vu, Tao Li, Ji-Fan Hu, Xiao-Ming Yao, Youwen Yang, Richard Gorlick, Paul Meyers, John Healey, Marc Ladanyi, and Andrew R. Hoffman

Loss of imprinting of IGF2 and H19 in osteosarcoma is accompanied by reciprocal methylation changes of a CTCF-binding site
Hum. Mol. Genet. 2003 12: 535-549; doi:10.1093/hmg/ddg034 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jianchao Xu, Pandelakis A. Koni, Peili Wang, Guoyong Li, Leonard Kaczmarek, Yanling Wu, Yanyan Li, Richard A. Flavell, and Gary V. Desir

The voltage-gated potassium channel Kv1.3 regulates energy homeostasis and body weight
Hum. Mol. Genet. 2003 12: 551-559; doi:10.1093/hmg/ddg049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Giles S.H. Yeo, Emma J. Lank, I. Sadaf Farooqi, Julia Keogh, Benjamin G. Challis, and Stephen O'Rahilly

Mutations in the human melanocortin-4 receptor gene associated with severe familial obesity disrupts receptor function through multiple molecular mechanisms
Hum. Mol. Genet. 2003 12: 561-574; doi:10.1093/hmg/ddg057 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Gianpaolo Suriano, Carla Oliveira, Paulo Ferreira, José C. Machado, Maria C. Bordin, Olivier De Wever, Erik A. Bruyneel, Nicole Moguilevsky, Nicola Grehan, Timothy R. Porter, Frances M. Richards, Ralph H. Hruban, Franco Roviello, David Huntsman, Marc Mareel, Fátima Carneiro, Carlos Caldas, and Raquel Seruca

Identification of CDH1 germline missense mutations associated with functional inactivation of the E-cadherin protein in young gastric cancer probands
Hum. Mol. Genet. 2003 12: 575-582; doi:10.1093/hmg/ddg048 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Carlo Rivolta, Dror Sharon, Margaret M. DeAngelis, and Thaddeus P. Dryja

Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns
Hum. Mol. Genet. 2003 12: 583-584; doi:10.1093/hmg/12.5.583 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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