Human Molecular Genetics

ARTICLES

Get checked abstract Clark Lin, Brunella Franco, and Marsha Rich Rosner

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders
Human Molecular Genetics Advance Access published on December 5, 2005
Hum. Mol. Genet. 2005 14: 3775-3786; doi:10.1093/hmg/ddi391 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Robert A. Schoenfeld, Eleonora Napoli, Alice Wong, Shan Zhan, Laurence Reutenauer, Dexter Morin, Alan R. Buckpitt, Franco Taroni, Bo Lonnerdal, Michael Ristow, Hélène Puccio, and Gino A. Cortopassi

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells
Human Molecular Genetics Advance Access published on October 20, 2005
Hum. Mol. Genet. 2005 14: 3787-3799; doi:10.1093/hmg/ddi393 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Wanli W. Smith, Haibing Jiang, Zhong Pei, Yuji Tanaka, Hokuto Morita, Akira Sawa, Valina L. Dawson, Ted M. Dawson, and Christopher A. Ross

Endoplasmic reticulum stress and mitochondrial cell death pathways mediate A53T mutant alpha-synuclein-induced toxicity
Human Molecular Genetics Advance Access published on October 20, 2005
Hum. Mol. Genet. 2005 14: 3801-3811; doi:10.1093/hmg/ddi396 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Mika Nakamoto, Peng Jin, William T. O'Donnell, and Stephen T. Warren

Physiological identification of human transcripts translationally regulated by a specific microRNA
Human Molecular Genetics Advance Access published on October 20, 2005
Hum. Mol. Genet. 2005 14: 3813-3821; doi:10.1093/hmg/ddi397 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jeremy M. Van Raamsdonk, Zoe Murphy, Elizabeth J. Slow, Blair R. Leavitt, and Michael R. Hayden

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease
Human Molecular Genetics Advance Access published on November 8, 2005
Hum. Mol. Genet. 2005 14: 3823-3835; doi:10.1093/hmg/ddi407 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Elizabeth A. Grice, Erin S. Rochelle, Eric D. Green, Aravinda Chakravarti, and Andrew S. McCallion

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer
Human Molecular Genetics Advance Access published on November 3, 2005
Hum. Mol. Genet. 2005 14: 3837-3845; doi:10.1093/hmg/ddi408 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Esther van de Vosse, Roelof A. de Paus, Jaap T. van Dissel, and Tom H.M. Ottenhoff

Molecular complementation of IL-12Rß1 deficiency reveals functional differences between IL-12Rß1 alleles including partial IL-12Rß1 deficiency
Human Molecular Genetics Advance Access published on November 17, 2005
Hum. Mol. Genet. 2005 14: 3847-3855; doi:10.1093/hmg/ddi409 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract René Thierbach, Tim J. Schulz, Frank Isken, Anja Voigt, Brun Mietzner, Gunnar Drewes, Jürgen-Christoph von Kleist-Retzow, Rudolf J. Wiesner, Mark A. Magnuson, Hélène Puccio, Andreas F.H. Pfeiffer, Pablo Steinberg, and Michael Ristow

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice
Human Molecular Genetics Advance Access published on November 8, 2005
Hum. Mol. Genet. 2005 14: 3857-3864; doi:10.1093/hmg/ddi410 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Debra A. Thompson, Andreas R. Janecke, Jessica Lange, Kecia L. Feathers, Christian A. Hübner, Christina L. McHenry, David W. Stockton, Gabriele Rammesmayer, James R. Lupski, Guillermo Antinolo, Carmen Ayuso, Montserrat Baiget, Peter Gouras, John R. Heckenlively, Anneke den Hollander, Samuel G. Jacobson, Richard A. Lewis, Paul A. Sieving, Bernd Wissinger, Suzanne Yzer, Eberhart Zrenner, Gerd Utermann, and Andreas Gal

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle
Human Molecular Genetics Advance Access published on November 3, 2005
Hum. Mol. Genet. 2005 14: 3865-3875; doi:10.1093/hmg/ddi411 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Sophie Charron, Raphaëlle Lambert, Vasiliki Eliopoulos, Chenda Duong, Annie Ménard, Julie Roy, and Alan Y. Deng

A loss of genome buffering capacity of Dahl salt-sensitive model to modulate blood pressure as a cause of hypertension
Human Molecular Genetics Advance Access published on November 8, 2005
Hum. Mol. Genet. 2005 14: 3877-3884; doi:10.1093/hmg/ddi412 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Nicola Reynolds, Brian Collier, Klio Maratou, Victoria Bingham, Robert M. Speed, Mary Taggart, Colin A. Semple, Nicola K. Gray, and Howard J. Cooke

Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells
Human Molecular Genetics Advance Access published on November 8, 2005
Hum. Mol. Genet. 2005 14: 3899-3909; doi:10.1093/hmg/ddi414 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Israela Lerer, Michal Sagi, Vardiella Meiner, Tirza Cohen, Joel Zlotogora, and Dvorah Abeliovich

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy
Human Molecular Genetics Advance Access published on November 21, 2005
Hum. Mol. Genet. 2005 14: 3911-3920; doi:10.1093/hmg/ddi415 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Avital Adato, Gaëlle Lefèvre, Benjamin Delprat, Vincent Michel, Nicolas Michalski, Sébastien Chardenoux, Dominique Weil, Aziz El-Amraoui, and Christine Petit

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells
Human Molecular Genetics Advance Access published on November 21, 2005
Hum. Mol. Genet. 2005 14: 3921-3932; doi:10.1093/hmg/ddi416 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jan Reiners, Erwin van Wijk, Tina Märker, Ulrike Zimmermann, Karin Jürgens, Heleen te Brinke, Nora Overlack, Ronald Roepman, Marlies Knipper, Hannie Kremer, and Uwe Wolfrum

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2
Human Molecular Genetics Advance Access published on November 21, 2005
Hum. Mol. Genet. 2005 14: 3933-3943; doi:10.1093/hmg/ddi417 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Rikke H. Lewinsky, Tine G.K. Jensen, Jette Møller, Allan Stensballe, Jørgen Olsen, and Jesper T. Troelsen

T_–13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro
Human Molecular Genetics Advance Access published on November 21, 2005
Hum. Mol. Genet. 2005 14: 3945-3953; doi:10.1093/hmg/ddi418 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Alka Malhotra, Hilary Coon, Mary F. Feitosa, Wei-Dong Li, Kari E. North, R. Arlen Price, Claude Bouchard, Steven C. Hunt, and Johanna K. Wolford The American Diabetes Association GENNID Study Group

Meta-analysis of genome-wide linkage studies for quantitative lipid traits in African Americans
Human Molecular Genetics Advance Access published on November 21, 2005
Hum. Mol. Genet. 2005 14: 3955-3962; doi:10.1093/hmg/ddi419 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM

Xiaowei Ma, Simonetta Bacci, Wojciech Mlynarski, Lucia Gottardo, Teresa Soccio, Claudia Menzaghi, Elisabetta Iori, Robert A. Lager, Adhir R. Shroff, Ernest V. Gervino, Richard W. Nesto, Michael T. Johnstone, Nada A. Abumrad, Angelo Avogaro, Vincenzo Trischitta, and Alessandro Doria

A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians
Hum. Mol. Genet. 2005 14: 3973; doi:10.1093/hmg/ddi399 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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