Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 20

Results: 15

Contribution of nuclear and extranuclear polyQ to neurological phenotypes in mouse models of Huntington's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3065, doi. 10.1093/hmg/ddi340

By:

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

Publication type:

Article

Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3035, doi. 10.1093/hmg/ddi336

By:

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

Publication type:

Article

Unrip, a factor implicated in cap-independent translation, associates with the cytosolic SMN complex and influences its intracellular localization.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3099, doi. 10.1093/hmg/ddi343

By:

Grimmler, Matthias;
Otter, Simon;
Peter, Christoph;
Müller, Felicitas;
Chari, Ashwin;
Fischer, Utz

Publication type:

Article

Complete loss-of-function of the heart/muscle-specific adenine nucleotide translocator is associated with mitochondrial myopathy and cardiomyopathy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3079, doi. 10.1093/hmg/ddi341

By:

Palmieri, Luigi;
Alberio, Simona;
Pisano, Isabella;
Lodi, Tiziana;
Meznaric-Petrusa, Mija;
Zidar, Janez;
Santoro, Antonella;
Scarcia, Pasquale;
Fontanesi, Flavia;
Lamantea, Eleonora;
Ferrero, Iliana;
Zeviani, Massimo

Publication type:

Article

Mapping cis-regulatory domains in the human genome using multi-species conservation of synteny.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3057, doi. 10.1093/hmg/ddi338

By:

Ahituv, Nadav;
Prabhakar, Shyam;
Poulin, Francis;
Rubin, Edward M.;
Couronne, Olivier

Publication type:

Article

Juxtaposition of the HPFH2 enhancer is not sufficient to reactivate the γ-globin gene in adult erythropoiesis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3047, doi. 10.1093/hmg/ddi337

By:

Xiang, Ping;
Han, Hemei;
Barkess, Grainne;
Olave, Ivan;
Fang, Xiangdong;
Yin, Wenxuan;
Stamatoyannopoulos, George;
Li, Qiliang

Publication type:

Article

Mutations in human CPO gene predict clinical expression of either hepatic hereditary coproporphyria or erythropoietic harderoporphyria.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3089, doi. 10.1093/hmg/ddi342

By:

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

Publication type:

Article

Fancd2 functions in a double strand break repair pathway that is distinct from non-homologous end joining.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3027, doi. 10.1093/hmg/ddi334

By:

Houghtaling, Scott;
Newell, Amy;
Akkari, Yassmine;
Taniguchi, Toshiyasu;
Olson, Susan;
Grompe, Markus

Publication type:

Article

Impaired hepatocyte survival and liver regeneration in Atm-deficient mice.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3019, doi. 10.1093/hmg/ddi333

By:

Lu, Shu;
Shen, Kate C.;
Wang, Yaolin;
Brooks, S.C.;
Wang, Y. Alan

Publication type:

Article

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.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 2971, doi. 10.1093/hmg/ddi327

By:

Falchi, Mario;
Andrew, Toby;
Snieder, Harold;
Swaminathan, Ramasamyiyer;
Surdulescu, Gabriela L.;
Spector, Tim D.

Publication type:

Article

Discontinuities and unsynapsed regions in meiotic chromosomes have a cis effect on meiotic recombination patterns in normal human males.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3013, doi. 10.1093/hmg/ddi332

By:

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

Publication type:

Article

Incomplete processing of mutant lamin A in Hutchinson–Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 2959, doi. 10.1093/hmg/ddi326

By:

Glynn, Michael W.;
Glover, Thomas W.

Publication type:

Article

Lithium rescues toxicity of aggregate-prone proteins in Drosophila by perturbing Wnt pathway.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 3003, doi. 10.1093/hmg/ddi331

By:

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

Publication type:

Article

Intracellular entrapment of wild-type TSH receptor by oligomerization with mutants linked to dominant TSH resistance.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 2991, doi. 10.1093/hmg/ddi329

By:

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

Publication type:

Article

Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 20, p. 2981, doi. 10.1093/hmg/ddi328

By:

Nikali, Kaisu;
Suomalainen, Anu;
Saharinen, Juha;
Kuokkanen, Mikko;
Spelbrink, Johannes N.;
Lönnqvist, Tuula;
Peltonen, Leena

Publication type:

Article