Human Molecular Genetics

Editorial:

Kay E. Davies

Hum. Mol. Genet. 2005 14: 1243; doi:10.1093/hmg/ddi150 [Extract] [FREE Full Text] [PDF] [Request Permissions]  

Article:

Dermot P.B. McGovern, Pirro Hysi, Tariq Ahmad, David A. van Heel, Miriam F. Moffatt, Alisoun Carey, William O.C. Cookson, and Derek P. Jewell

Association between a complex insertion/deletion polymorphism in NOD1 (CARD4) and susceptibility to inflammatory bowel disease
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1245-1250; doi:10.1093/hmg/ddi135 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Harald Bär, Dirk Fischer, Bertrand Goudeau, Rudolf A. Kley, Christoph S. Clemen, Patrick Vicart, Harald Herrmann, Matthias Vorgerd, and Rolf Schröder

Pathogenic effects of a novel heterozygous R350P desmin mutation on the assembly of desmin intermediate filaments in vivo and in vitro
Human Molecular Genetics Advance Access published on March 30, 2005
Hum. Mol. Genet. 2005 14: 1251-1260; doi:10.1093/hmg/ddi136 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Paul Gissen, Colin A. Johnson, Dean Gentle, Laurence D. Hurst, Aidan J. Doherty, Cahir J. O'Kane, Deirdre A. Kelly, and Eamonn R. Maher

Comparative evolutionary analysis of VPS33 homologues: genetic and functional insights
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1261-1270; doi:10.1093/hmg/ddi137 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Miriam Ferrer, Jose A. Rodríguez, Ellen A. Spierings, Johan P. de Winter, Giuseppe Giaccone, and Frank A.E. Kruyt

Identification of multiple nuclear export sequences in Fanconi anemia group A protein that contribute to CRM1-dependent nuclear export
Human Molecular Genetics Advance Access published on March 24, 2005
Hum. Mol. Genet. 2005 14: 1271-1281; doi:10.1093/hmg/ddi138 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Christelle Forcet, Sandrine Etienne-Manneville, Hélène Gaude, Laurence Fournier, Sébastien Debilly, Marko Salmi, Annette Baas, Sylviane Olschwang, Hans Clevers, and Marc Billaud

Functional analysis of Peutz–Jeghers mutations reveals that the LKB1 C-terminal region exerts a crucial role in regulating both the AMPK pathway and the cell polarity
Human Molecular Genetics Advance Access published on March 30, 2005
Hum. Mol. Genet. 2005 14: 1283-1292; doi:10.1093/hmg/ddi139 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Muriel Asheuer, Ivan Bieche, Ingrid Laurendeau, Ann Moser, Bernard Hainque, Michel Vidaud, and Patrick Aubourg

Decreased expression of ABCD4 and BG1 genes early in the pathogenesis of X-linked adrenoleukodystrophy
Human Molecular Genetics Advance Access published on March 30, 2005
Hum. Mol. Genet. 2005 14: 1293-1303; doi:10.1093/hmg/ddi140 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Kevin Maas, Heidi Chen, Yu Shyr, Nancy J. Olsen, and Thomas Aune

Shared gene expression profiles in individuals with autoimmune disease and unaffected first-degree relatives of individuals with autoimmune disease
Human Molecular Genetics Advance Access published on April 6, 2005
Hum. Mol. Genet. 2005 14: 1305-1314; doi:10.1093/hmg/ddi141 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Lee M. Butcher, Emma Meaburn, Jo Knight, Pak C. Sham, Leonard C. Schalkwyk, Ian W. Craig, and Robert Plomin

SNPs, microarrays and pooled DNA: identification of four loci associated with mild mental impairment in a sample of 6000 children
Human Molecular Genetics Advance Access published on March 30, 2005
Hum. Mol. Genet. 2005 14: 1315-1325; doi:10.1093/hmg/ddi142 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Xinrong Lu, Mallikarjuna Guruju, John Oswald, and Paulo A. Ferreira

Limited proteolysis differentially modulates the stability and subcellular localization of domains of RPGRIP1 that are distinctly affected by mutations in Leber's congenital amaurosis
Human Molecular Genetics Advance Access published on March 30, 2005
Hum. Mol. Genet. 2005 14: 1327-1340; doi:10.1093/hmg/ddi143 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Merran Finnis, Sonia Dayan, Lynne Hobson, Georgia Chenevix-Trench, Kathryn Friend, Karin Ried, Deon Venter, Erica Woollatt, Elizabeth Baker, and Robert I. Richards

Common chromosomal fragile site FRA16D mutation in cancer cells
Human Molecular Genetics Advance Access published on April 6, 2005
Hum. Mol. Genet. 2005 14: 1341-1349; doi:10.1093/hmg/ddi144 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Sonia Eladad, Tian-Zhang Ye, Peng Hu, Margaret Leversha, Sergey Beresten, Michael J. Matunis, and Nathan A. Ellis

Intra-nuclear trafficking of the BLM helicase to DNA damage-induced foci is regulated by SUMO modification
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1351-1365; doi:10.1093/hmg/ddi145 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Corinne Grey, Annabelle Méry, and Michel Pucéat

Fine-tuning in Ca²⁺ homeostasis underlies progression of cardiomyopathy in myocytes derived from genetically modified embryonic stem cells
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1367-1377; doi:10.1093/hmg/ddi146 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Jeremy M. Van Raamsdonk, Jacqueline Pearson, Daniel A. Rogers, Nagat Bissada, A. Wayne Vogl, Michael R. Hayden, and Blair R. Leavitt

Loss of wild-type huntingtin influences motor dysfunction and survival in the YAC128 mouse model of Huntington disease
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1379-1392; doi:10.1093/hmg/ddi147 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Zhicheng Lin, Donna Walther, Xiao-Ying Yu, Suxia Li, Tomas Drgon, and George R. Uhl

SLC18A2 promoter haplotypes and identification of a novel protective factor against alcoholism
Human Molecular Genetics Advance Access published on April 13, 2005
Hum. Mol. Genet. 2005 14: 1393-1404; doi:10.1093/hmg/ddi148 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

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