Human Molecular Genetics

ARTICLES:

John D. Porter, Anita P. Merriam, Patrick Leahy, Bendi Gong, Jason Feuerman, Georgiana Cheng, and Sangeeta Khanna

Temporal gene expression profiling of dystrophin-deficient (mdx) mouse diaphragm identifies conserved and muscle group-specific mechanisms in the pathogenesis of muscular dystrophy
Human Molecular Genetics Advance Access published on December 17, 2003
Hum. Mol. Genet. 2004 13: 257-269; doi:10.1093/hmg/ddh033 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Gladys Valverde-Franco, Hanlong Liu, David Davidson, Sen Chai, Hector Valderrama-Carvajal, David Goltzman, David M. Ornitz, and Janet E. Henderson

Defective bone mineralization and osteopenia in young adult FGFR3^-/- mice
Human Molecular Genetics Advance Access published on December 17, 2003
Hum. Mol. Genet. 2004 13: 271-284; doi:10.1093/hmg/ddh034 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jun Okabe, Akiko Eguchi, Renu Wadhwa, Randeep Rakwal, Rumi Tsukinoki, Takao Hayakawa, and Mahito Nakanishi

Limited capacity of the nuclear matrix to bind telomere repeat binding factor TRF1 may restrict the proliferation of mortal human fibroblasts
Human Molecular Genetics Advance Access published on December 17, 2003
Hum. Mol. Genet. 2004 13: 285-293; doi:10.1093/hmg/ddh032 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rosalein R. de Jonge, Ivo N. van Schaik, Jeroen P. Vreijling, Dirk Troost, and Frank Baas

Expression of complement components in the peripheral nervous system
Human Molecular Genetics Advance Access published on December 8, 2003
Hum. Mol. Genet. 2004 13: 295-302; doi:10.1093/hmg/ddh029 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Leslie I. Grad and Bernard D. Lemire

Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis
Human Molecular Genetics Advance Access published on December 8, 2003
Hum. Mol. Genet. 2004 13: 303-314; doi:10.1093/hmg/ddh027 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Vera A. Voronina, Elena A. Kozhemyakina, Christina M. O'Kernick, Natan D. Kahn, Sharon L. Wenger, John V. Linberg, Adele S. Schneider, and Peter H. Mathers

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea
Human Molecular Genetics Advance Access published on December 8, 2003
Hum. Mol. Genet. 2004 13: 315-322; doi:10.1093/hmg/ddh025 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marie-Anne Debily, Alessandra Camarca, Marina Ciullo, Claudine Mayer, Sandrine El Marhomy, Ismaila Ba, Abdelali Jalil, Annamaria Anzisi, John Guardiola, and Dominique Piatier-Tonneau

Expression and molecular characterization of alternative transcripts of the ARHGEF5/TIM oncogene specific for human breast cancer
Human Molecular Genetics Advance Access published on December 8, 2003
Hum. Mol. Genet. 2004 13: 323-334; doi:10.1093/hmg/ddh024 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Thomas G. Schulze, Kui Zhang, Yu-Sheng Chen, Nirmala Akula, Fengzhu Sun, and Francis J. McMahon

Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genome
Human Molecular Genetics Advance Access published on December 17, 2003
Hum. Mol. Genet. 2004 13: 335-342; doi:10.1093/hmg/ddh035 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Sikandar G. Khan, Ahmet Metin, Engin Gozukara, Hiroki Inui, Tala Shahlavi, Vanessa Muniz-Medina, Carl C. Baker, Takahiro Ueda, Juliet R. Aiken, Thomas D. Schneider, and Kenneth H. Kraemer

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk
Human Molecular Genetics Advance Access published on December 8, 2003
Hum. Mol. Genet. 2004 13: 343-352; doi:10.1093/hmg/ddh026 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Maria Vernucci, Flavia Cerrato, Paolo V. Pedone, Luisa Dandolo, Carmelo B. Bruni, and Andrea Riccio

Developmentally regulated functions of the H19 differentially methylated domain
Human Molecular Genetics Advance Access published on December 17, 2003
Hum. Mol. Genet. 2004 13: 353-361; doi:10.1093/hmg/ddh028 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDA:

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. 2004 13: 363; doi:10.1093/hmg/ddh030 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

W. H. Irwin McLean, Alan D. Irvine, Kevin J. Hamill, Neil V. Whittock, Carrie M. Coleman-Campbell, Jemima E. Mellerio, Gabrielle S. Ashton, Patricia J. H. Dopping-Hepenstal, Robin A. J. Eady, Tanvir Jamil, Roderic J. Phillips, S. Ghulam Shabbir, Tahir S. Haroon, Khawar Khurshid, Jonathan E. Moore, Brian Page, Jonathan Darling, David J. Atherton, Maurice A. M. van Steensel, Colin S. Munro, Frances J. D. Smith, and John A. McGrath

An unusual N-terminal deletion of the laminin 3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome
Hum. Mol. Genet. 2004 13: 365; doi:10.1093/hmg/ddh031 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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