Human Molecular Genetics

ARTICLES:

Elena De Angelis, Alex Watkins, Michael Schäfer, Thomas Brümmendorf, and Sue Kenwrick

Disease-associated mutations in L1 CAM interfere with ligand interactions and cell-surface expression
Hum. Mol. Genet. 2002 11: 1-12; doi:10.1093/hmg/11.1.1 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yoshihisa Watanabe, Asao Fujiyama, Yuta Ichiba, Masahira Hattori, Tetsushi Yada, Yoshiyuki Sakaki, and Toshimichi Ikemura

Chromosome-wide assessment of replication timing for human chromosomes 11q and 21q: disease-related genes in timing-switch regions
Hum. Mol. Genet. 2002 11: 13-21; doi:10.1093/hmg/11.1.13 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wolfgang M. Jagla, Herbert Jägle, Takaaki Hayashi, Lindsay T. Sharpe, and Samir S. Deeb

The molecular basis of dichromatic color vision in males with multiple red and green visual pigment genes
Hum. Mol. Genet. 2002 11: 23-32; doi:10.1093/hmg/11.1.23 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Robyn V. Jamieson, Rahat Perveen, Bronwyn Kerr, Martin Carette, Jill Yardley, Elise Heon, M. Gabriela Wirth, Veronica van Heyningen, Di Donnai, Francis Munier, and Graeme C. M. Black

Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma
Hum. Mol. Genet. 2002 11: 33-42; doi:10.1093/hmg/11.1.33 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Julian D. Harris, Ian R. Graham, Silke Schepelmann, Anita K. Stannard, Michael L. Roberts, Bradley L. Hodges, Vanessa Hill, Andrea Amalfitano, David G. Hassall, James S. Owen, and George Dickson

Acute regression of advanced and retardation of early aortic atheroma in immunocompetent apolipoprotein-E (apoE) deficient mice by administration of a second generation [E1^–, E3^–, polymerase^–] adenovirus vector expressing human apoE
Hum. Mol. Genet. 2002 11: 43-58; doi:10.1093/hmg/11.1.43 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Martijn S. Scheffers, Hang Le, Paola van der Bent, Wouter Leonhard, Frans Prins, Lia Spruit, Martijn H. Breuning, Emile de Heer, and Dorien J. M. Peters

Distinct subcellular expression of endogenous polycystin-2 in the plasma membrane and Golgi apparatus of MDCK cells
Hum. Mol. Genet. 2002 11: 59-67; doi:10.1093/hmg/11.1.59 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

K. M. M. Schulze, C. O. Hanemann, H. W. Müller, and H. Hanenberg

Transduction of wild-type merlin into human schwannoma cells decreases schwannoma cell growth and induces apoptosis
Hum. Mol. Genet. 2002 11: 69-76; doi:10.1093/hmg/11.1.69 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Shuji Takada, Martina Paulsen, Maxine Tevendale, Chen-En Tsai, Gavin Kelsey, Bruce M. Cattanach, and Anne C. Ferguson-Smith

Epigenetic analysis of the Dlk1–Gtl2 imprinted domain on mouse chromosome 12: implications for imprinting control from comparison with Igf2–H19
Hum. Mol. Genet. 2002 11: 77-86; doi:10.1093/hmg/11.1.77 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christina F. Chakarova, Matthew M. Hims, Hanno Bolz, Leen Abu-Safieh, Reshma J. Patel, Myrto G. Papaioannou, Chris F. Inglehearn, T. Jeffrey Keen, Catherine Willis, Anthony T. Moore, Thomas Rosenberg, Andrew R. Webster, Alan C. Bird, Andreas Gal, David Hunt, Eranga N. Vithana, and Shomi S. Bhattacharya

Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa
Hum. Mol. Genet. 2002 11: 87-92; doi:10.1093/hmg/11.1.87 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Wilfried Rossoll, Ann-Kathrin Kröning, Uta-Maria Ohndorf, Clemens Steegborn, Sibylle Jablonka, and Michael Sendtner

Specific interaction of Smn, the spinal muscular atrophy determining gene product, with hnRNP-R and gry-rbp/hnRNP-Q: a role for Smn in RNA processing in motor axons?
Hum. Mol. Genet. 2002 11: 93-105; doi:10.1093/hmg/11.1.93 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Florence Jobard, Caroline Lefèvre, Aysen Karaduman, Claudine Blanchet-Bardon, Serap Emre, Jean Weissenbach, Meral Özgüc, Mark Lathrop, Jean-François Prud’homme, and Judith Fischer

Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1
Hum. Mol. Genet. 2002 11: 107-113; doi:10.1093/hmg/11.1.107 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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