Human Molecular Genetics

ARTICLES:

Javier Perea, Andrea Robertson, Tanya Tolmachova, John Muddle, R. H. M. King, S. Ponsford, P. K. Thomas, and Clare Huxley

Induced myelination and demyelination in a conditional mouse model of Charcot–Marie–Tooth disease type 1A
Hum. Mol. Genet. 2001 10: 1007-1018; doi:10.1093/hmg/10.10.1007 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

REPORTS:

Michael A. Hoffman, Michael Ohh, Haifeng Yang, Jeff M. Klco, Mircea Ivan, and William G. Kaelin, Jr

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF
Hum. Mol. Genet. 2001 10: 1019-1027; doi:10.1093/hmg/10.10.1019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Steven C. Clifford, Matthew E. Cockman, Alan C. Smallwood, David R. Mole, Emma R. Woodward, Patrick H. Maxwell, Peter J. Ratcliffe, and Eamonn R. Maher

Contrasting effects on HIF-1 regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease
Hum. Mol. Genet. 2001 10: 1029-1038; doi:10.1093/hmg/10.10.1029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hiroaki Adachi, Akito Kume, Mei Li, Yuji Nakagomi, Hisayoshi Niwa, Jun Do, Chen Sang, Yasushi Kobayashi, Manabu Doyu, and Gen Sobue

Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death
Hum. Mol. Genet. 2001 10: 1039-1048; doi:10.1093/hmg/10.10.1039 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nihar Ranjan Jana, Evgueni A. Zemskov, Guang-hui Wang, and Nobuyuki Nukina

Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release
Hum. Mol. Genet. 2001 10: 1049-1059; doi:10.1093/hmg/10.10.1049 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Orit Shmueli, Amos Gdalyahu, Ksenia Sorokina, Eviater Nevo, Aaron Avivi, and Orly Reiner

DCX in PC12 cells: CREB-mediated transcription and neurite outgrowth
Hum. Mol. Genet. 2001 10: 1061-1070; doi:10.1093/hmg/10.10.1061 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takashi Murata, Riki Kurokawa, Anna Krones, Ken Tatsumi, Masami Ishii, Tomohiko Taki, Mitsuo Masuno, Hirofumi Ohashi, Masayoshi Yanagisawa, Michael G. Rosenfeld, Christopher K. Glass, and Yasuhide Hayashi

Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein–Taybi syndrome
Hum. Mol. Genet. 2001 10: 1071-1076; doi:10.1093/hmg/10.10.1071 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Colin A. McKenzie, Gonçalo R. Abecasis, Bernard Keavney, Terrence Forrester, Peter J. Ratcliffe, Cécile Julier, John M.C. Connell, Franklyn Bennett, Norma McFarlane-Anderson, G. Mark Lathrop, and Lon R. Cardon

Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE)
Hum. Mol. Genet. 2001 10: 1077-1084; doi:10.1093/hmg/10.10.1077 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mimi Wan, Keji Zhao, Stephen Sung Jae Lee, and Uta Francke

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome
Hum. Mol. Genet. 2001 10: 1085-1092; doi:10.1093/hmg/10.10.1085 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susan E. Hiby, Maria Lough, E. Barry Keverne, M. Azim Surani, Yung Wai Loke, and Ashley King

Paternal monoallelic expression of PEG3 in the human placenta
Hum. Mol. Genet. 2001 10: 1093-1100; doi:10.1093/hmg/10.10.1093 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Brian P. Chadwick and Huntington F. Willard

Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant
Hum. Mol. Genet. 2001 10: 1101-1113; doi:10.1093/hmg/10.10.1101 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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