Human Molecular Genetics

ARTICLES:

Nerissa K. Marziano, Stefano O. Casalotti, Anne E. Portelli, David L. Becker, and Andrew Forge

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30
Hum. Mol. Genet. 2003 12: 805-812; doi:10.1093/hmg/ddg076 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pascale Bomont and Michel Koenig

Intermediate filament aggregation in fibroblasts of giant axonal neuropathy patients is aggravated in non dividing cells and by microtubule destabilization
Hum. Mol. Genet. 2003 12: 813-822; doi:10.1093/hmg/ddg092 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Chiara Romualdi, Stefano Campanaro, Davide Campagna, Barbara Celegato, Nicola Cannata, Stefano Toppo, Giorgio Valle, and Gerolamo Lanfranchi

Pattern recognition in gene expression profiling using DNA array: a comparative study of different statistical methods applied to cancer classification
Hum. Mol. Genet. 2003 12: 823-836; doi:10.1093/hmg/ddg093 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

K. Yamasaki, K. Joh, T. Ohta, H. Masuzaki, T. Ishimaru, T. Mukai, N. Niikawa, M. Ogawa, J. Wagstaff, and T. Kishino

Neurons but not glial cells show reciprocal imprinting of sense and antisense transcripts of Ube3a
Hum. Mol. Genet. 2003 12: 837-847; doi:10.1093/hmg/ddg106 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, Silvia Russo, Daniela Giardino, Lidia Larizza, Joseph Cheung, Lluís Armengol, Albert Schinzel, Xavier Estivill, and Orsetta Zuffardi

Genomic inversions of human chromosome 15q11–q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions
Hum. Mol. Genet. 2003 12: 849-858; doi:10.1093/hmg/ddg101 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrick G. Kehoe, Hagit Katzov, Lars Feuk, Anna M. Bennet, Boo Johansson, Björn Wiman, Ulf de Faire, Nigel J. Cairns, Gordon K. Wilcock, Anthony J. Brookes, Kaj Blennow, and Jonathan A. Prince

Haplotypes extending across ACE are associated with Alzheimer's disease
Hum. Mol. Genet. 2003 12: 859-867; doi:10.1093/hmg/ddg094 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jessie Theuns, Jacques Remacle, Richard Killick, Ellen Corsmit, Krist'l Vennekens, Danny Huylebroeck, Marc Cruts, and Christine Van Broeckhoven

Alzheimer-associated C allele of the promoter polymorphism -22C>T causes a critical neuron-specific decrease of presenilin 1 expression
Hum. Mol. Genet. 2003 12: 869-877; doi:10.1093/hmg/ddg098 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Emmanuel Lesuisse, Renata Santos, Berthold F. Matzanke, Simon A. B. Knight, Jean-Michel Camadro, and Andrew Dancis

Iron use for haeme synthesis is under control of the yeast frataxin homologue (Yfh1)
Hum. Mol. Genet. 2003 12: 879-889; doi:10.1093/hmg/ddg096 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jacqueline A. Langdon and John A.L. Armour

Evolution and population genetics of the H-ras minisatellite and cancer predisposition
Hum. Mol. Genet. 2003 12: 891-900; doi:10.1093/hmg/ddg105 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hyoung Doo Shin, Byung Lae Park, Lyoung Hyo Kim, Ji Hyun Jung, Jun Yeon Kim, Jung Hwan Yoon, Yoon Jun Kim, and Hyo-Suk Lee

Interleukin 10 haplotype associated with increased risk of hepatocellular carcinoma
Hum. Mol. Genet. 2003 12: 901-906; doi:10.1093/hmg/ddg104 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Annemieke Aartsma-Rus, Anneke A.M. Janson, Wendy E. Kaman, Mattie Bremmer-Bout, Johan T. den Dunnen, Frank Baas, Gert-Jan B. van Ommen, and Judith C.T. van Deutekom

Therapeutic antisense-induced exon skipping in cultured muscle cells from six different DMD patients
Hum. Mol. Genet. 2003 12: 907-914; doi:10.1093/hmg/ddg100 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Saeed Rafii, Annika Lindblom, Malcolm Reed, Mark Meuth, and Angela Cox

A naturally occurring mutation in an ATP-binding domain of the recombination repair gene XRCC3 ablates its function without causing cancer susceptibility
Hum. Mol. Genet. 2003 12: 915-923; doi:10.1093/hmg/ddg102 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Florence Jobard, Bakar Bouadjar, Frédéric Caux, Smail Hadj-Rabia, Christina Has, Fumi Matsuda, Jean Weissenbach, Mark Lathrop, Jean-François Prud'homme, and Judith Fischer

Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome
Hum. Mol. Genet. 2003 12: 925-935; doi:10.1093/hmg/ddg097 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Deborah Lang and Jonathan A. Epstein

Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer
Hum. Mol. Genet. 2003 12: 937-945; doi:10.1093/hmg/ddg107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM:

Heiko Funke-Kaiser, Florian Reichenberger, Karla Köpke, Stefan-Martin Herrmann, Jacqueline Pfeifer, Hans-Dieter Orzechowski, Walter Zidek, Martin Paul, and Eva Brand

Differential binding of transcription factor E2F-2 to the endothelin-converting enzyme-1b promoter affects blood pressure regulation
Hum. Mol. Genet. 2003 12: 947; doi:10.1093/hmg/ddg091 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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