Human Molecular Genetics

ARTICLES:

Jubao Duan, Mark S. Wainwright, Josep M. Comeron, Naruya Saitou, Alan R. Sanders, Joel Gelernter, and Pablo V. Gejman

Synonymous mutations in the human dopamine receptor D2 (DRD2) affect mRNA stability and synthesis of the receptor
Hum. Mol. Genet. 2003 12: 205-216; doi:10.1093/hmg/ddg055 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

John F. Bateman, Susanna Freddi, Gary Nattrass, and Ravi Savarirayan

Tissue-specific RNA surveillance? Nonsense-mediated mRNA decay causes collagen X haploinsufficiency in Schmid metaphyseal chondrodysplasia cartilage
Hum. Mol. Genet. 2003 12: 217-225; doi:10.1093/hmg/ddg054 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Andrei Tchirkov and Peter M. Lansdorp

Role of oxidative stress in telomere shortening in cultured fibroblasts from normal individuals and patients with ataxia–telangiectasia
Hum. Mol. Genet. 2003 12: 227-232; doi:10.1093/hmg/ddg023 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Joomyeong Kim, Angela Kollhoff, Anne Bergmann, and Lisa Stubbs

Methylation-sensitive binding of transcription factor YY1 to an insulator sequence within the paternally expressed imprinted gene, Peg3
Hum. Mol. Genet. 2003 12: 233-245; doi:10.1093/hmg/ddg028 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

E.J. Wolvetang, T.J. Wilson, E. Sanij, J. Busciglio, T. Hatzistavrou, A. Seth, P.J. Hertzog, and I. Kola

ETS2 overexpression in transgenic models and in Down syndrome predisposes to apoptosis via the p53 pathway
Hum. Mol. Genet. 2003 12: 247-255; doi:10.1093/hmg/ddg015 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Titta S. Blom, Matts D. Linder, Karen Snow, Helena Pihko, Michael W. Hess, Eija Jokitalo, Ville Veckman, Ann-Christine Syvänen, and Elina Ikonen

Defective endocytic trafficking of NPC1 and NPC2 underlying infantile Niemann–Pick type C disease
Hum. Mol. Genet. 2003 12: 257-272; doi:10.1093/hmg/ddg025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vanessa C. Wheeler, Lori-Anne Lebel, Vladimir Vrbanac, Allison Teed, Hein te Riele, and Marcy E. MacDonald

Mismatch repair gene Msh2 modifies the timing of early disease in Hdh^Q111 striatum
Hum. Mol. Genet. 2003 12: 273-281; doi:10.1093/hmg/ddg056 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Debora Mancini-DiNardo, Scott J.S. Steele, Robert S. Ingram, and Shirley M. Tilghman

A differentially methylated region within the gene Kcnq1 functions as an imprinted promoter and silencer
Hum. Mol. Genet. 2003 12: 283-294; doi:10.1093/hmg/ddg024 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Susana Lopes, Annabelle Lewis, Petra Hajkova, Wendy Dean, Joachim Oswald, Thierry Forné, Adele Murrell, Miguel Constância, Marisa Bartolomei, Jörn Walter, and Wolf Reik

Epigenetic modifications in an imprinting cluster are controlled by a hierarchy of DMRs suggesting long-range chromatin interactions
Hum. Mol. Genet. 2003 12: 295-305; doi:10.1093/hmg/ddg022 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Guy A. Caldwell, Songsong Cao, Elaina G. Sexton, Christopher C. Gelwix, John Paul Bevel, and Kim A. Caldwell

Suppression of polyglutamine-induced protein aggregation in Caenorhabditis elegans by torsin proteins
Hum. Mol. Genet. 2003 12: 307-319; doi:10.1093/hmg/ddg027 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Konstanze Hörtnagel, Holger Prokisch, and Thomas Meitinger

An isoform of hPANK2, deficient in pantothenate kinase-associated neurodegeneration, localizes to mitochondria
Hum. Mol. Genet. 2003 12: 321-327; doi:10.1093/hmg/ddg026 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rebeca Acín-Pérez, María Pilar Bayona-Bafaluy, Marta Bueno, Claudia Machicado, Patricio Fernández-Silva, Acisclo Pérez-Martos, Julio Montoya, M.J. López-Pérez, Javier Sancho, and José Antonio Enríquez

An intragenic suppressor in the cytochrome c oxidase I gene of mouse mitochondrial DNA
Hum. Mol. Genet. 2003 12: 329-339; doi:10.1093/hmg/ddg021 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Elena Bosch and Mark A. Jobling

Duplications of the AZFa region of the human Y chromosome are mediated by homologous recombination between HERVs and are compatible with male fertility
Hum. Mol. Genet. 2003 12: 341-347; doi:10.1093/hmg/ddg031 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jan Senderek, Carsten Bergmann, Susanne Weber, Uwe-Peter Ketelsen, Hubert Schorle, Sabine Rudnik-Schöneborn, Reinhard Büttner, Eckhard Buchheim, and Klaus Zerres

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15
Hum. Mol. Genet. 2003 12: 349-356; doi:10.1093/hmg/ddg030 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vincent El Ghouzzi, Nathalie Dagoneau, Esther Kinning, Christel Thauvin-Robinet, Wassim Chemaitilly, Catherine Prost-Squarcioni, Lihadh I. Al-Gazali, Alain Verloes, Martine Le Merrer, Arnold Munnich, Richard C. Trembath, and Valérie Cormier-Daire

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve–Melchior–Clausen syndrome
Hum. Mol. Genet. 2003 12: 357-364; doi:10.1093/hmg/ddg029 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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