Human Molecular Genetics

ARTICLES:

Mathieu Faucher, Jean-Louis Anctil, Marc-André Rodrigue, Annie Duchesne, Dan Bergeron, Pierre Blondeau, Gilles Côté, Stéphane Dubois, Josée Bergeron, Rose Arseneault, The Québec Glaucoma Network, Jean Morissette, and Vincent Raymond

Founder TIGR/myocilin mutations for glaucoma in the Québec population
Hum. Mol. Genet. 2002 11: 2077-2090; doi:10.1093/hmg/11.18.2077 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Qian Tao, He Huang, Theresa M. Geiman, Chai Yen Lim, Li Fu, Guo-Hua Qiu, and Keith D. Robertson

Defective de novo methylation of viral and cellular DNA sequences in ICF syndrome cells
Hum. Mol. Genet. 2002 11: 2091-2102; doi:10.1093/hmg/11.18.2091 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Patrick McManamny, Hun S. Chy, David I. Finkelstein, Rebecca G. Craythorn, Peter J. Crack, Ismail Kola, Surindar S. Cheema, Malcolm K. Horne, Nigel G. Wreford, Moira K. O'Bryan, David M. de Kretser, and John R. Morrison

A mouse model of spinal and bulbar muscular atrophy
Hum. Mol. Genet. 2002 11: 2103-2111; doi:10.1093/hmg/11.18.2103 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bart Loeys, Lionel Van Maldergem, Geert Mortier, Paul Coucke, Sabine Gerniers, Jean-Marie Naeyaert, and Anne De Paepe

Homozygosity for a missense mutation in fibulin-5 (FBLN5) results in a severe form of cutis laxa
Hum. Mol. Genet. 2002 11: 2113-2118; doi:10.1093/hmg/11.18.2113 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Tim Cundy, Madhuri Hegde, Dorit Naot, Belinda Chong, Alan King, Robyn Wallace, John Mulley, Donald R. Love, Joerg Seidel, Matthew Fawkner, Tatjana Banovic, Karen E. Callon, Andrew B. Grey, Ian R. Reid, Catherine A. Middleton-Hardie, and Jillian Cornish

A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
Hum. Mol. Genet. 2002 11: 2119-2127; doi:10.1093/hmg/11.18.2119 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Dixie-Ann N. W. Persaud-Sawin, Antonius VanDongen, and Rose-Mary N. Boustany

Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis
Hum. Mol. Genet. 2002 11: 2129-2142; doi:10.1093/hmg/11.18.2129 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Amanda P. Wheatley, Daniel J. Bolland, Jane E. Hewitt, Jane C. Dewar, and Ian P. Hall

Identification of the autoantigen SART-1 as a candidate gene for the development of atopy
Hum. Mol. Genet. 2002 11: 2143-2146; doi:10.1093/hmg/11.18.2143 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Matthew T. Wheeler, Sara Zarnegar, and Elizabeth M. McNally

-Sarcoglycan, a novel component of the sarcoglycan complex, is reduced in muscular dystrophy
Hum. Mol. Genet. 2002 11: 2147-2154; doi:10.1093/hmg/11.18.2147 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Mao-Sen Sun, Chi-Jiunn Pan, Jeng-Jer Shieh, Abhijit Ghosh, Li-Yuan Chen, Brian C. Mansfield, Jerrold M. Ward, Barry J. Byrne, and Janice Yang Chou

Sustained hepatic and renal glucose-6-phosphatase expression corrects glycogen storage disease type Ia in mice
Hum. Mol. Genet. 2002 11: 2155-2164; doi:10.1093/hmg/11.18.2155 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Marie-Thérèse Bihoreau, Natalia Megel, Joanna H. Brown, Bettina Kränzlin, Laurence Crombez, Yulia Tychinskaya, John Broxholme, Susanne Kratz, Volker Bergmann, Sigrid Hoffman, Dominique Gauguier, and Norbert Gretz

Characterization of a major modifier locus for polycystic kidney disease (Modpkdr1) in the Han:SPRD(cy/+) rat in a region conserved with a mouse modifier locus for Alport syndrome
Hum. Mol. Genet. 2002 11: 2165-2173; doi:10.1093/hmg/11.18.2165 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Rajesh Sharma, Saeeda Bhatti, Mariluz Gomez, Rhonda M. Clark, Cynthia Murray, Tetsuo Ashizawa, and Sanjay I. Bidichandani

The GAA triplet-repeat sequence in Friedreich ataxia shows a high level of somatic instability in vivo, with a significant predilection for large contractions
Hum. Mol. Genet. 2002 11: 2175-2187; doi:10.1093/hmg/11.18.2175 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Atul Mohindra, Laura E. Hays, Eric N. Phillips, Bradley D. Preston, Thomas Helleday, and Mark Meuth

Defects in homologous recombination repair in mismatch-repair-deficient tumour cell lines
Hum. Mol. Genet. 2002 11: 2189-2200; doi:10.1093/hmg/11.18.2189 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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