Human Molecular Genetics

ARTICLES

Get checked abstract Michael W. Glynn and Thomas W. Glover

Incomplete processing of mutant lamin A in Hutchinson–Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition
Human Molecular Genetics Advance Access published on August 26, 2005
Hum. Mol. Genet. 2005 14: 2959-2969; doi:10.1093/hmg/ddi326 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Mario Falchi, Toby Andrew, Harold Snieder, Ramasamyiyer Swaminathan, Gabriela L. Surdulescu, and Tim D. Spector

Identification of QTLs for serum lipid levels in a female sib-pair cohort: a novel application to improve the power of two-locus linkage analysis
Human Molecular Genetics Advance Access published on August 31, 2005
Hum. Mol. Genet. 2005 14: 2971-2979; doi:10.1093/hmg/ddi327 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Kaisu Nikali, Anu Suomalainen, Juha Saharinen, Mikko Kuokkanen, Johannes N. Spelbrink, Tuula Lönnqvist, and Leena Peltonen

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky
Human Molecular Genetics Advance Access published on August 31, 2005
Hum. Mol. Genet. 2005 14: 2981-2990; doi:10.1093/hmg/ddi328 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Davide Calebiro, Tiziana de Filippis, Simona Lucchi, Cesare Covino, Sara Panigone, Paolo Beck-Peccoz, David Dunlap, and Luca Persani

Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance
Human Molecular Genetics Advance Access published on August 31, 2005
Hum. Mol. Genet. 2005 14: 2991-3002; doi:10.1093/hmg/ddi329 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Zdenek Berger, Evangelia K. Ttofi, Claire H. Michel, Matthieu Y. Pasco, Sean Tenant, David C. Rubinsztein, and Cahir J. O'Kane

Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway
Human Molecular Genetics Advance Access published on September 2, 2005
Hum. Mol. Genet. 2005 14: 3003-3011; doi:10.1093/hmg/ddi331 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Fei Sun, Maria Oliver-Bonet, Thomas Liehr, Heike Starke, Kiril Trpkov, Evelyn Ko, Alfred Rademaker, and Renée H. Martin

Discontinuities and unsynapsed regions in meiotic chromosomes have a cis effect on meiotic recombination patterns in normal human males
Human Molecular Genetics Advance Access published on September 9, 2005
Hum. Mol. Genet. 2005 14: 3013-3018; doi:10.1093/hmg/ddi332 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Shu Lu, Kate C. Shen, Yaolin Wang, S.C. Brooks, and Y. Alan Wang

Impaired hepatocyte survival and liver regeneration in Atm-deficient mice
Human Molecular Genetics Advance Access published on September 2, 2005
Hum. Mol. Genet. 2005 14: 3019-3025; doi:10.1093/hmg/ddi333 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Scott Houghtaling, Amy Newell, Yassmine Akkari, Toshiyasu Taniguchi, Susan Olson, and Markus Grompe

Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining
Human Molecular Genetics Advance Access published on August 31, 2005
Hum. Mol. Genet. 2005 14: 3027-3033; doi:10.1093/hmg/ddi334 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Fiona Mansergh, Noelle C. Orton, John P. Vessey, Melanie R. Lalonde, William K. Stell, Francois Tremblay, Steven Barnes, Derrick E. Rancourt, and N. Torben Bech-Hansen

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina
Human Molecular Genetics Advance Access published on September 9, 2005
Hum. Mol. Genet. 2005 14: 3035-3046; doi:10.1093/hmg/ddi336 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Ping Xiang, Hemei Han, Grainne Barkess, Ivan Olave, Xiangdong Fang, Wenxuan Yin, George Stamatoyannopoulos, and Qiliang Li

Juxtaposition of the HPFH2 enhancer is not sufficient to reactivate the -globin gene in adult erythropoiesis
Human Molecular Genetics Advance Access published on September 9, 2005
Hum. Mol. Genet. 2005 14: 3047-3056; doi:10.1093/hmg/ddi337 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Nadav Ahituv, Shyam Prabhakar, Francis Poulin, Edward M. Rubin, and Olivier Couronne

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny
Human Molecular Genetics Advance Access published on September 9, 2005
Hum. Mol. Genet. 2005 14: 3057-3063; doi:10.1093/hmg/ddi338 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Caroline L. Benn, Christian Landles, He Li, Andrew D. Strand, Ben Woodman, Kirupa Sathasivam, Shi-Hua Li, Shabnam Ghazi-Noori, Emma Hockly, Syed M.N.N. Faruque, Jang-Ho J. Cha, Paul T. Sharpe, James M. Olson, Xiao-Jiang Li, and Gillian P. Bates

Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease
Human Molecular Genetics Advance Access published on September 23, 2005
Hum. Mol. Genet. 2005 14: 3065-3078; doi:10.1093/hmg/ddi340 [Abstract] [FREE Full Text] [PDF] [Request Permissions]  

Get checked abstract Caroline Schmitt, Laurent Gouya, Eva Malonova, Jérôme Lamoril, Jean-Michel Camadro, Magali Flamme, Christian Rose, Said Lyoumi, Vasco Da Silva, Catherine Boileau, Bernard Grandchamp, Carole Beaumont, Jean-Charles Deybach, and Hervé Puy

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria
Human Molecular Genetics Advance Access published on September 13, 2005
Hum. Mol. Genet. 2005 14: 3089-3098; doi:10.1093/hmg/ddi342 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

Get checked abstract Matthias Grimmler, Simon Otter, Christoph Peter, Felicitas Müller, Ashwin Chari, and Utz Fischer

Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization
Human Molecular Genetics Advance Access published on September 13, 2005
Hum. Mol. Genet. 2005 14: 3099-3111; doi:10.1093/hmg/ddi343 [Abstract] [FREE Full Text] [PDF] [Supplementary Material] [Request Permissions]  

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