Human Molecular Genetics

ARTICLES:

Weimin Bi, Tomoko Ohyama, Hisashi Nakamura, Jiong Yan, Jaya Visvanathan, Monica J. Justice, and James R. Lupski

Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith–Magenis syndrome
Human Molecular Genetics Advance Access published on March 3, 2005
Hum. Mol. Genet. 2005 14: 983-995; doi:10.1093/hmg/ddi085 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroyuki Izumi, Jun Inoue, Sana Yokoi, Hiroshi Hosoda, Tatsuhiro Shibata, Makoto Sunamori, Setsuo Hirohashi, Johji Inazawa, and Issei Imoto

Frequent silencing of DBC1 is by genetic or epigenetic mechanisms in non-small cell lung cancers
Human Molecular Genetics Advance Access published on March 3, 2005
Hum. Mol. Genet. 2005 14: 997-1007; doi:10.1093/hmg/ddi092 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hideyuki Mototani, Akihiko Mabuchi, Susumu Saito, Mikihiro Fujioka, Aritoshi Iida, Yoshio Takatori, Akihiro Kotani, Toshikazu Kubo, Kozo Nakamura, Akihiro Sekine, Yoshinori Murakami, Tatsuhiko Tsunoda, Kohei Notoya, Yusuke Nakamura, and Shiro Ikegawa

A functional single nucleotide polymorphism in the core promoter region of CALM1 is associated with hip osteoarthritis in Japanese
Human Molecular Genetics Advance Access published on March 3, 2005
Hum. Mol. Genet. 2005 14: 1009-1017; doi:10.1093/hmg/ddi093 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Juliane Ramser, Fatima E. Abidi, Celine A. Burckle, Claus Lenski, Helga Toriello, Gaiping Wen, Herbert A. Lubs, Stefanie Engert, Roger E. Stevenson, Alfons Meindl, Charles E. Schwartz, and Genevieve Nguyen

A unique exonic splice enhancer mutation in a family with X-linked mental retardation and epilepsy points to a novel role of the renin receptor
Human Molecular Genetics Advance Access published on March 3, 2005
Hum. Mol. Genet. 2005 14: 1019-1027; doi:10.1093/hmg/ddi094 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Janice A. Dominov, Amanda J. Kravetz, Magdalena Ardelt, Christine A. Kostek, Mary Lou Beermann, and Jeffrey B. Miller

Muscle-specific BCL2 expression ameliorates muscle disease in laminin 2-deficient, but not in dystrophin-deficient, mice
Human Molecular Genetics Advance Access published on March 9, 2005
Hum. Mol. Genet. 2005 14: 1029-1040; doi:10.1093/hmg/ddi095 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Catherine J. McLeod, Louise V. O'Keefe, and Robert I. Richards

The pathogenic agent in Drosophila models of ‘polyglutamine’ diseases
Human Molecular Genetics Advance Access published on March 9, 2005
Hum. Mol. Genet. 2005 14: 1041-1048; doi:10.1093/hmg/ddi096 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kirill Makedonski, Liron Abuhatzira, Yotam Kaufman, Aharon Razin, and Ruth Shemer

MeCP2 deficiency in Rett syndrome causes epigenetic aberrations at the PWS/AS imprinting center that affects UBE3A expression
Human Molecular Genetics Advance Access published on March 9, 2005
Hum. Mol. Genet. 2005 14: 1049-1058; doi:10.1093/hmg/ddi097 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Noriyuki Azuma, Keiko Tadokoro, Astuko Asaka, Masao Yamada, Yuki Yamaguchi, Hiroshi Handa, Satsuki Matsushima, Takashi Watanabe, Yasuyuki Kida, Toshihiko Ogura, Masaaki Torii, Kenji Shimamura, and Masato Nakafuku

Transdifferentiation of the retinal pigment epithelia to the neural retina by transfer of the Pax6 transcriptional factor
Human Molecular Genetics Advance Access published on March 9, 2005
Hum. Mol. Genet. 2005 14: 1059-1068; doi:10.1093/hmg/ddi098 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Pasi Tavi, Anna Hansson, Shi-Jin Zhang, Nils-Göran Larsson, and Håkan Westerblad

Abnormal Ca²⁺ release and catecholamine-induced arrhythmias in mitochondrial cardiomyopathy
Human Molecular Genetics Advance Access published on March 9, 2005
Hum. Mol. Genet. 2005 14: 1069-1076; doi:10.1093/hmg/ddi119 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Philippa B. Mills, Robert A.H. Surtees, Michael P. Champion, Clare E. Beesley, Neil Dalton, Peter J. Scambler, Simon J.R. Heales, Anthony Briddon, Irene Scheimberg, Georg F. Hoffmann, Johannes Zschocke, and Peter T. Clayton

Neonatal epileptic encephalopathy caused by mutations in the PNPO gene encoding pyridox(am)ine 5'-phosphate oxidase
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1077-1086; doi:10.1093/hmg/ddi120 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Laia Pedrola, Antonio Espert, Xingyao Wu, Reyes Claramunt, Michael E. Shy, and Francesc Palau

GDAP1, the protein causing Charcot–Marie–Tooth disease type 4A, is expressed in neurons and is associated with mitochondria
Human Molecular Genetics Advance Access published on March 16, 2005
Hum. Mol. Genet. 2005 14: 1087-1094; doi:10.1093/hmg/ddi121 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Michael D. Kaytor, Courtney E. Byam, Susan K. Tousey, Samuel D. Stevens, Huda Y. Zoghbi, and Harry T. Orr

A cell-based screen for modulators of ataxin-1 phosphorylation
Human Molecular Genetics Advance Access published on March 9, 2005
Hum. Mol. Genet. 2005 14: 1095-1105; doi:10.1093/hmg/ddi122 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Corrigenda:

Jorge Esparza-Gordillo, Elena Goicoechea de Jorge, Alfonso Buil, Luis Carreras Berges, Margarita López-Trascasa, Pilar Sánchez-Corral, and Santiago Rodríguez de Córdoba

Predisposition to atypical hemolytic uremic syndrome involves the concurrence of different susceptibility alleles in the regulators of complement activation gene cluster in 1q32
Hum. Mol. Genet. 2005 14: 1107; doi:10.1093/hmg/ddi099 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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