Human Molecular Genetics

ARTICLES:

Jennifer N. Murdoch, Deborah J. Henderson, Kit Doudney, Carles Gaston-Massuet, Helen M. Phillips, Caroline Paternotte, Ruth Arkell, Philip Stanier, and Andrew J. Copp

Disruption of scribble (Scrb1) causes severe neural tube defects in the circletail mouse
Hum. Mol. Genet. 2003 12: 87-98; doi:10.1093/hmg/ddg014 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jatinder Kaur Lamba, Masashi Adachi, Daxi Sun, Jaana Tammur, Erin G. Schuetz, Rando Allikmets, and John D. Schuetz

Nonsense mediated decay downregulates conserved alternatively spliced ABCC4 transcripts bearing nonsense codons
Hum. Mol. Genet. 2003 12: 99-109; doi:10.1093/hmg/ddg011 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Anke H.E.M. Klerkx, Michael W.T. Tanck, John J.P. Kastelein, Henri O.F. Molhuizen, J. Wouter Jukema, Aeilko H. Zwinderman, and Jan Albert Kuivenhoven

Haplotype analysis of the CETP gene: not TaqIB, but the closely linked -629CA polymorphism and a novel promoter variant are independently associated with CETP concentration
Hum. Mol. Genet. 2003 12: 111-123; doi:10.1093/hmg/ddg013 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shinwa Shibata and Jeannie T. Lee

Characterization and quantitation of differential Tsix transcripts: implications for Tsix function
Hum. Mol. Genet. 2003 12: 125-136; doi:10.1093/hmg/ddg010 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dina L. Newman, Mark Abney, Harvey Dytch, Rodney Parry, Mary Sara McPeek, and Carole Ober

Major loci influencing serum triglyceride levels on 2q14 and 9p21 localized by homozygosity-by-descent mapping in a large Hutterite pedigree
Hum. Mol. Genet. 2003 12: 137-144; doi:10.1093/hmg/ddg012 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Cecile Lubrano-Berthelier, Emmanuelle Durand, Beatrice Dubern, Astrid Shapiro, Paul Dazin, Jacques Weill, Camille Ferron, Philippe Froguel, and Christian Vaisse

Intracellular retention is a common characteristic of childhood obesity-associated MC4R mutations
Hum. Mol. Genet. 2003 12: 145-153; doi:10.1093/hmg/ddg016 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Georg Rosenberger, Inka Jantke, Andreas Gal, and Kerstin Kutsche

Interaction of PIX (ARHGEF6) with ß-parvin (PARVB) suggests an involvement of PIX in integrin-mediated signaling
Hum. Mol. Genet. 2003 12: 155-167; doi:10.1093/hmg/ddg019 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Eugene Yujun Xu, Douglas F. Lee, Ansgar Klebes, Paul J. Turek, Tom B. Kornberg, and Renee A. Reijo Pera

Human BOULE gene rescues meiotic defects in infertile flies
Hum. Mol. Genet. 2003 12: 169-175; doi:10.1093/hmg/ddg017 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rainer Wessely, Ludger Hengst, Birgit Jaschke, Franziska Wegener, Thomas Richter, Raffaella Lupetti, Makarios Paschalidis, Albert Schömig, Richard Brandl, and Franz-Josef Neumann

A central role of interferon regulatory factor-1 for the limitation of neointimal hyperplasia
Hum. Mol. Genet. 2003 12: 177-187; doi:10.1093/hmg/ddg018 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paula Salmikangas, Peter F.M. van der Ven, Maciej Lalowski, Anu Taivainen, Fang Zhao, Heli Suila, Rolf Schröder, Pekka Lappalainen, Dieter O. Fürst, and Olli Carpén

Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly
Hum. Mol. Genet. 2003 12: 189-203; doi:10.1093/hmg/ddg020 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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