Human Molecular Genetics

ARTICLES

Get checked abstract Hongmin Chen, Leon M. Wilkins, Nazneen Aziz, Christopher Cannings, David H. Wyllie, Colin Bingle, John Rogus, James D. Beck, Steven Offenbacher, Michael J. Cork, Maryam Rafie-Kolpin, Chung-Ming Hsieh, Kenneth S. Kornman, and Gordon W. Duff

Single nucleotide polymorphisms in the human interleukin-1B gene affect transcription according to haplotype context
Human Molecular Genetics Advance Access published on January 6, 2006
Hum. Mol. Genet. 2006 15: 519-529; doi:10.1093/hmg/ddi469 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Kimihiko Oishi, Konstantin Gaengel, Srinivasan Krishnamoorthy, Kenichi Kamiya, In-Kyong Kim, Huiwen Ying, Ursula Weber, Lizabeth A. Perkins, Marco Tartaglia, Marek Mlodzik, Leslie Pick, and Bruce D. Gelb

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations
Human Molecular Genetics Advance Access published on January 6, 2006
Hum. Mol. Genet. 2006 15: 543-553; doi:10.1093/hmg/ddi471 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Annette Haacke, Sarah A. Broadley, Raina Boteva, Nikolay Tzvetkov, F. Ulrich Hartl, and Peter Breuer

Proteolytic cleavage of polyglutamine-expanded ataxin-3 is critical for aggregation and sequestration of non-expanded ataxin-3
Human Molecular Genetics Advance Access published on January 11, 2006
Hum. Mol. Genet. 2006 15: 555-568; doi:10.1093/hmg/ddi472 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Philipp Berger, Imre Berger, Christiane Schaffitzel, Kristian Tersar, Benjamin Volkmer, and Ueli Suter

Multi-level regulation of myotubularin-related protein-2 phosphatase activity by myotubularin-related protein-13/set-binding factor-2
Human Molecular Genetics Advance Access published on January 6, 2006
Hum. Mol. Genet. 2006 15: 569-579; doi:10.1093/hmg/ddi473 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Sven Fischer, Hermann-Josef Lüdecke, Dagmar Wieczorek, Stefan Böhringer, Gabriele Gillessen-Kaesbach, and Bernhard Horsthemke

Histone acetylation dependent allelic expression imbalance of BAPX1 in patients with the oculo-auriculo-vertebral spectrum
Human Molecular Genetics Advance Access published on January 11, 2006
Hum. Mol. Genet. 2006 15: 581-587; doi:10.1093/hmg/ddi474 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Philippe Arnaud, Kenichiro Hata, Masahiro Kaneda, En Li, Hiroyuki Sasaki, Robert Feil, and Gavin Kelsey

Stochastic imprinting in the progeny of Dnmt3L^–/– females
Human Molecular Genetics Advance Access published on January 10, 2006
Hum. Mol. Genet. 2006 15: 589-598; doi:10.1093/hmg/ddi475 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Joanna R. Morris, Laurent Pangon, Chris Boutell, Toyomasa Katagiri, Nicholas H. Keep, and Ellen Solomon

Genetic analysis of BRCA1 ubiquitin ligase activity and its relationship to breast cancer susceptibility
Human Molecular Genetics Advance Access published on January 10, 2006
Hum. Mol. Genet. 2006 15: 599-606; doi:10.1093/hmg/ddi476 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Erin B.D. Clabough and Scott O. Zeitlin

Deletion of the triplet repeat encoding polyglutamine within the mouse Huntington's disease gene results in subtle behavioral/motor phenotypes in vivo and elevated levels of ATP with cellular senescence in vitro
Human Molecular Genetics Advance Access published on January 10, 2006
Hum. Mol. Genet. 2006 15: 607-623; doi:10.1093/hmg/ddi477 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Thomas H. Gillingwater, Thomas M. Wishart, Philip E. Chen, Jane E. Haley, Kevin Robertson, Stephen H.-F. MacDonald, Susan Middleton, Kolja Wawrowski, Michael J. Shipston, Shlomo Melmed, David J.A. Wyllie, Paul A. Skehel, Michael P. Coleman, and Richard R. Ribchester

The neuroprotective Wld^S gene regulates expression of PTTG1 and erythroid differentiation regulator 1-like gene in mice and human cells
Human Molecular Genetics Advance Access published on January 10, 2006
Hum. Mol. Genet. 2006 15: 625-635; doi:10.1093/hmg/ddi478 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Gisela Melcon, Serguei Kozlov, Dedra A. Cutler, Terry Sullivan, Lidia Hernandez, Po Zhao, Stephanie Mitchell, Gustavo Nader, Marina Bakay, Jeff N. Rottman, Eric P. Hoffman, and Colin L. Stewart

Loss of emerin at the nuclear envelope disrupts the Rb1/E2F and MyoD pathways during muscle regeneration
Human Molecular Genetics Advance Access published on January 10, 2006
Hum. Mol. Genet. 2006 15: 637-651; doi:10.1093/hmg/ddi479 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Revekka L. Boguslavsky, Colin L. Stewart, and Howard J. Worman

Nuclear lamin A inhibits adipocyte differentiation: implications for Dunnigan-type familial partial lipodystrophy
Human Molecular Genetics Advance Access published on January 13, 2006
Hum. Mol. Genet. 2006 15: 653-663; doi:10.1093/hmg/ddi480 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

CORRIGENDUM

John S. Bett, Geoffrey M. Goellner, Ben Woodman, Gregory Pratt, Martin Rechsteiner, and Gillian P. Bates

Proteasome impairment does not contribute to pathogenesis in R6/2 Huntington's disease mice: exclusion of proteasome activator REG as a therapeutic target
Hum. Mol. Genet. 2006 15: 665; doi:10.1093/hmg/ddi488 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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