Human Molecular Genetics

ARTICLES:

Rosa Di Bitondo, Adrian J. Hall, Ian R. Peake, Licia Iacoviello, and Peter R. Winship

Oestrogenic repression of human coagulation factor VII expression mediated through an oestrogen response element sequence motif in the promoter region
Hum. Mol. Genet. 2002 11: 723-731; doi:10.1093/hmg/11.7.723 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Stewart A. Fabb, Dominic J. Wells, Patricia Serpente, and George Dickson

Adeno-associated virus vector gene transfer and sarcolemmal expression of a 144 kDa micro-dystrophin effectively restores the dystrophin-associated protein complex and inhibits myofibre degeneration in nude/mdx mice
Hum. Mol. Genet. 2002 11: 733-741; doi:10.1093/hmg/11.7.733 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Herbert M. Espinoza, Carol J. Cox, Elena V. Semina, and Brad A. Amendt

A molecular basis for differential developmental anomalies in Axenfeld–Rieger syndrome
Hum. Mol. Genet. 2002 11: 743-753; doi:10.1093/hmg/11.7.743 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Caroline Thaung, Katrine West, Brian J. Clark, Lisa McKie, Joanne E. Morgan, Karen Arnold, Patrick M. Nolan, Jo Peters, A. Jackie Hunter, Steve D. M. Brown, Ian J. Jackson, and Sally H. Cross

Novel ENU-induced eye mutations in the mouse: models for human eye disease
Hum. Mol. Genet. 2002 11: 755-767; doi:10.1093/hmg/11.7.755 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

David J. Lloyd, Richard C. Trembath, and Sue Shackleton

A novel interaction between lamin A and SREBP1: implications for partial lipodystrophy and other laminopathies
Hum. Mol. Genet. 2002 11: 769-777; doi:10.1093/hmg/11.7.769 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nannette Marr, Daniel G Bichet, Michele Lonergan, Marie-Francoise Arthus, Nikola Jeck, Hannsjörg W. Seyberth, Walter Rosenthal, Carel H. van Os, Alexander Oksche, and Peter M. T. Deen

Heteroligomerization of an Aquaporin-2 mutant with wild-type Aquaporin-2 and their misrouting to late endosomes/lysosomes explains dominant nephrogenic diabetes insipidus
Hum. Mol. Genet. 2002 11: 779-789; doi:10.1093/hmg/11.7.779 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Yun Zhang, Darren G. Monckton, Michael J. Siciliano, Thomas H. Connor, and Marvin L. Meistrich

Age and insertion site dependence of repeat number instability of a human DM1 transgene in individual mouse sperm
Hum. Mol. Genet. 2002 11: 791-798; doi:10.1093/hmg/11.7.791 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Pascal H. G. Duijf, Kaate R. J. Vanmolkot, Peter Propping, Waltraut Friedl, Elmar Krieger, Frank McKeon, Volker Dötsch, Han G. Brunner, and Hans van Bokhoven

Gain-of-function mutation in ADULT syndrome reveals the presence of a second transactivation domain in p63
Hum. Mol. Genet. 2002 11: 799-804; doi:10.1093/hmg/11.7.799 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Majid Fardaei, Mark T. Rogers, Helena M. Thorpe, Kenneth Larkin, Marion G. Hamshere, Peter S. Harper, and J. David Brook

Three proteins, MBNL, MBLL and MBXL, co-localize in vivo with nuclear foci of expanded-repeat transcripts in DM1 and DM2 cells
Hum. Mol. Genet. 2002 11: 805-814; doi:10.1093/hmg/11.7.805 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Sarah A. Shoichet, Anselm T. Bäumer, Djordje Stamenkovic, Heinrich Sauer, Andreas F. H. Pfeiffer, C. Ronald Kahn, Dirk Müller-Wieland, Christoph Richter, and Michael Ristow

Frataxin promotes antioxidant defense in a thiol-dependent manner resulting in diminished malignant transformation in vitro
Hum. Mol. Genet. 2002 11: 815-821; doi:10.1093/hmg/11.7.815 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Jacqueline van der Spuy, J. Paul Chapple, Brian J. Clark, Philip J. Luthert, Charanjit S. Sethi, and Michael E. Cheetham

The Leber congenital amaurosis gene product AIPL1 is localized exclusively in rod photoreceptors of the adult human retina
Hum. Mol. Genet. 2002 11: 823-831; doi:10.1093/hmg/11.7.823 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Takahiro Hamada, W. H. Irwin McLean, Michele Ramsay, Gabrielle H. S. Ashton, Arti Nanda, Trefor Jenkins, Isobel Edelstein, Andrew P. South, Oliver Bleck, Vesarat Wessagowit, Rajeev Mallipeddi, Guy E. Orchard, Hong Wan, Patricia J. C. Dopping-Hepenstal, Jemima E. Mellerio, Neil V. Whittock, Colin S. Munro, Maurice A. M. van Steensel, Peter M. Steijlen, Jian Ni, Lurong Zhang, Takashi Hashimoto, Robin A. J. Eady, and John A. McGrath

Lipoid proteinosis maps to 1q21 and is caused by mutations in the extracellular matrix protein 1 gene (ECM1)
Hum. Mol. Genet. 2002 11: 833-840; doi:10.1093/hmg/11.7.833 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Madhuri Warren, Amanda Smith, Natalie Partridge, Julio Masabanda, Darren Griffin, and Alan Ashworth

Structural analysis of the chicken BRCA2 gene facilitates identification of functional domains and disease causing mutations
Hum. Mol. Genet. 2002 11: 841-851; doi:10.1093/hmg/11.7.841 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mark I. Rees, Trevor M. Lewis, John B. J. Kwok, Geert R. Mortier, Paul Govaert, Russell G. Snell, Peter R. Schofield, and Michael J. Owen

Hyperekplexia associated with compound heterozygote mutations in the ß-subunit of the human inhibitory glycine receptor (GLRB)
Hum. Mol. Genet. 2002 11: 853-860; doi:10.1093/hmg/11.7.853 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

ERRATUM:

ERRATUM
Hum. Mol. Genet. 2002 11: 861; doi:10.1093/hmg/11.7.861 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

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