Human Molecular Genetics

ARTICLES:

David A. van Heel, Bryan M. Dechairo, Gary Dawson, Dermot P.B. McGovern, Kenichi Negoro, Alisoun H. Carey, Lon R. Cardon, Ian Mackay, Derek P. Jewell, and Nicholas J. Lench

The IBD6 Crohn's disease locus demonstrates complex interactions with CARD15 and IBD5 disease-associated variants
Human Molecular Genetics Advance Access published on August 19, 2003
Hum. Mol. Genet. 2003 12: 2569-2575; doi:10.1093/hmg/ddg281 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

James A. Traherne, Michael R. Hill, Pirro Hysi, Mauro D'Amato, John Broxholme, Richard Mott, Miriam F. Moffatt, and William O.C.M. Cookson

LD mapping of maternally and non-maternally derived alleles and atopy in FcRI-ß
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2577-2585; doi:10.1093/hmg/ddg290 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Duong P. Huynh, Daniel R. Scoles, Dung Nguyen, and Stefan M. Pulst

The autosomal recessive juvenile Parkinson disease gene product, parkin, interacts with and ubiquitinates synaptotagmin XI
Human Molecular Genetics Advance Access published on August 12, 2003
Hum. Mol. Genet. 2003 12: 2587-2597; doi:10.1093/hmg/ddg269 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Nathan Pankratz, William C. Nichols, Sean K. Uniacke, Cheryl Halter, Jill Murrell, Alice Rudolph, Clifford W. Shults, P. Michael Conneally, Tatiana Foroud, and the Parkinson Study Group

Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
Human Molecular Genetics Advance Access published on August 12, 2003
Hum. Mol. Genet. 2003 12: 2599-2608; doi:10.1093/hmg/ddg270 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Aida Abu-Baker, Christiane Messaed, Janet Laganiere, Claudia Gaspar, Bernard Brais, and Guy A. Rouleau

Involvement of the ubiquitin-proteasome pathway and molecular chaperones in oculopharyngeal muscular dystrophy
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2609-2623; doi:10.1093/hmg/ddg293 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Atsushi Iwata, Mieko Maruyama, Takumi Akagi, Tsutomu Hashikawa, Ichiro Kanazawa, Shoji Tsuji, and Nobuyuki Nukina

Alpha-synuclein degradation by serine protease neurosin: implication for pathogenesis of synucleinopathies
Human Molecular Genetics Advance Access published on August 19, 2003
Hum. Mol. Genet. 2003 12: 2625-2635; doi:10.1093/hmg/ddg283 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Amr Abdelgany, Matthew Wood, and David Beeson

Allele-specific silencing of a pathogenic mutant acetylcholine receptor subunit by RNA interference
Human Molecular Genetics Advance Access published on August 19, 2003
Hum. Mol. Genet. 2003 12: 2637-2644; doi:10.1093/hmg/ddg280 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Madhuri Warren, Christopher J. Lord, Julio Masabanda, Darren Griffin, and Alan Ashworth

Phenotypic effects of heterozygosity for a BRCA2 mutation
Human Molecular Genetics Advance Access published on August 19, 2003
Hum. Mol. Genet. 2003 12: 2645-2656; doi:10.1093/hmg/ddg277 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Caroline Hayward, Xinhua Shu, Artur V. Cideciyan, Alan Lennon, Perdita Barran, Sepideh Zareparsi, Lindsay Sawyer, Grace Hendry, Baljean Dhillon, Ann H. Milam, Philip J. Luthert, Anand Swaroop, Nicholas D. Hastie, Samuel G. Jacobson, and Alan F. Wright

Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2657-2667; doi:10.1093/hmg/ddg289 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Ming Guo, Elizabeth J. Hong, Jolene Fernandes, S. Larry Zipursky, and Bruce A. Hay

A reporter for amyloid precursor protein -secretase activity in Drosophila
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2669-2678; doi:10.1093/hmg/ddg292 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christopher A. Haiman, Daniel O. Stram, Malcolm C. Pike, Laurence N. Kolonel, Noel P. Burtt, David Altshuler, Joel Hirschhorn, and Brian E. Henderson

A comprehensive haplotype analysis of CYP19 and breast cancer risk: the Multiethnic Cohort
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2679-2692; doi:10.1093/hmg/ddg294 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Hana Antonicka, Scot C. Leary, Guy-Hellen Guercin, Jeffrey N. Agar, Rita Horvath, Nancy G. Kennaway, Cary O. Harding, Michaela Jaksch, and Eric A. Shoubridge

Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
Human Molecular Genetics Advance Access published on August 19, 2003
Hum. Mol. Genet. 2003 12: 2693-2702; doi:10.1093/hmg/ddg284 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christopher J. Ward, David Yuan, Tatyana V. Masyuk, Xiaofang Wang, Rachaneekorn Punyashthiti, Shelly Whelan, Robert Bacallao, Roser Torra, Nicholas F. LaRusso, Vicente E. Torres, and Peter C. Harris

Cellular and subcellular localization of the ARPKD protein; fibrocystin is expressed on primary cilia
Human Molecular Genetics Advance Access published on August 12, 2003
Hum. Mol. Genet. 2003 12: 2703-2710; doi:10.1093/hmg/ddg274 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Alicia Alonso, Radma Mahmood, Shulan Li, Fanny Cheung, Kinya Yoda, and Peter E. Warburton

Genomic microarray analysis reveals distinct locations for the CENP-A binding domains in three human chromosome 13q32 neocentromeres
Human Molecular Genetics Advance Access published on August 19, 2003
Hum. Mol. Genet. 2003 12: 2711-2721; doi:10.1093/hmg/ddg282 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Bernhard Horsthemke, Hülya Nazlican, Johannes Hüsing, Ludger Klein-Hitpaß, Uwe Claussen, Susanne Michel, Christina Lich, Gabriele Gillessen-Kaesbach, and Karin Buiting

Somatic mosaicism for maternal uniparental disomy 15 in a girl with Prader–Willi syndrome: confirmation by cell cloning and identification of candidate downstream genes
Human Molecular Genetics Advance Access published on August 27, 2003
Hum. Mol. Genet. 2003 12: 2723-2732; doi:10.1093/hmg/ddg291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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