Human Molecular Genetics

ARTICLES

Get checked abstract Eric Frisdal, Anke H.E.M. Klerkx, Wilfried Le Goff, Michael W.T. Tanck, Jean-Pierre Lagarde, J. Wouter Jukema, John J.P. Kastelein, M. John Chapman, and Maryse Guerin

Functional interaction between –629C/A, –971G/A and –1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study
Human Molecular Genetics Advance Access published on July 27, 2005
Hum. Mol. Genet. 2005 14: 2607-2618; doi:10.1093/hmg/ddi291 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Fred B. Berry, Yahya Tamimi, Michelle V. Carle, Ordan J. Lehmann, and Michael A. Walter

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis
Human Molecular Genetics Advance Access published on August 4, 2005
Hum. Mol. Genet. 2005 14: 2619-2627; doi:10.1093/hmg/ddi295 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Jinbin Zhai, Hong Lin, Rafaela Canete-Soler, and William W. Schlaepfer

HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS
Human Molecular Genetics Advance Access published on August 3, 2005
Hum. Mol. Genet. 2005 14: 2629-2640; doi:10.1093/hmg/ddi297 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Hélène Bélanger, Patrick Beaulieu, Claudia Moreau, Damian Labuda, Thomas J. Hudson, and Daniel Sinnett

Functional promoter SNPs in cell cycle checkpoint genes
Human Molecular Genetics Advance Access published on August 4, 2005
Hum. Mol. Genet. 2005 14: 2641-2648; doi:10.1093/hmg/ddi298 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract André Toulouse, Faith Au-Yeung, Claudia Gaspar, Julie Roussel, Patrick Dion, and Guy A. Rouleau

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts
Human Molecular Genetics Advance Access published on August 8, 2005
Hum. Mol. Genet. 2005 14: 2649-2660; doi:10.1093/hmg/ddi299 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Alexander Seitz, Dmitri Gourevitch, Xiang-Ming Zhang, Lise Clark, Pan Chen, Maja Kragol, Natasha Levenkova, John Rux, Stefan Samulewicz, and Ellen Heber-Katz

Sense and antisense transcripts of the apolipoprotein E gene in normal and ApoE knockout mice, their expression after spinal cord injury and corresponding human transcripts
Human Molecular Genetics Advance Access published on August 9, 2005
Hum. Mol. Genet. 2005 14: 2661-2670; doi:10.1093/hmg/ddi296 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract F. Djouadi, F. Aubey, D. Schlemmer, J.P.N. Ruiter, R.J.A. Wanders, A.W. Strauss, and Jean Bastin

Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders
Human Molecular Genetics Advance Access published on August 22, 2005
Hum. Mol. Genet. 2005 14: 2695-2703; doi:10.1093/hmg/ddi303 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Peter J.I. Ellis, Emily J. Clemente, Penny Ball, Aminata Touré, Lydia Ferguson, James M.A. Turner, Kate L. Loveland, Nabeel A. Affara, and Paul S. Burgoyne

Deletions on mouse Yq lead to upregulation of multiple X- and Y-linked transcripts in spermatids
Human Molecular Genetics Advance Access published on August 8, 2005
Hum. Mol. Genet. 2005 14: 2705-2715; doi:10.1093/hmg/ddi304 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Peter Proks, Christophe Girard, and Frances M. Ashcroft

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP
Human Molecular Genetics Advance Access published on August 8, 2005
Hum. Mol. Genet. 2005 14: 2717-2726; doi:10.1093/hmg/ddi305 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Hannes Lohi, Leonarda Ianzano, Xiao-Chu Zhao, Elayne M. Chan, Julie Turnbull, Stephen W. Scherer, Cameron A. Ackerley, and Berge A. Minassian

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy
Human Molecular Genetics Advance Access published on August 22, 2005
Hum. Mol. Genet. 2005 14: 2727-2736; doi:10.1093/hmg/ddi306 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Francisca Diaz, Christine K. Thomas, Sofia Garcia, Dayami Hernandez, and Carlos T. Moraes

Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency
Human Molecular Genetics Advance Access published on August 15, 2005
Hum. Mol. Genet. 2005 14: 2737-2748; doi:10.1093/hmg/ddi307 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Sonia Gandhi and Nicholas W. Wood

Molecular pathogenesis of Parkinson's disease
Human Molecular Genetics Advance Access published on August 26, 2005
Hum. Mol. Genet. 2005 14: 2749-2755; doi:10.1093/hmg/ddi308 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Xiayi Ke, Marcos M. Miretti, John Broxholme, Sarah Hunt, Stephan Beck, David R. Bentley, Panos Deloukas, and Lon R. Cardon

A comparison of tagging methods and their tagging space
Human Molecular Genetics Advance Access published on August 15, 2005
Hum. Mol. Genet. 2005 14: 2757-2767; doi:10.1093/hmg/ddi309 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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