Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 2

Results: 22

Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 2, p. 345, doi. 10.1093/hmg/ddq469
Publication type:: Article

A novel mouse model of cerebral cavernous malformations based on the two-hit mutation hypothesis recapitulates the human disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 211, doi. 10.1093/hmg/ddq433

By:

McDonald, David A.;
Shenkar, Robert;
Shi, Changbin;
Stockton, Rebecca A.;
Akers, Amy L.;
Kucherlapati, Melanie H.;
Kucherlapati, Raju;
Brainer, James;
Ginsberg, Mark H.;
Awad, Issam A.;
Marchuk, Douglas A.

Publication type:

Article

Meclizine is neuroprotective in models of Huntington's disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 294, doi. 10.1093/hmg/ddq464

By:

Gohil, Vishal M.;
Offner, Nicolas;
Walker, James A.;
Sheth, Sunil A.;
Fossale, Elisa;
Gusella, James F.;
MacDonald, Marcy E.;
Neri, Christian;
Mootha, Vamsi K.

Publication type:

Article

Loss-of-function point mutations associated with renal tubular dysgenesis provide insights about renin function and cellular trafficking.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 301, doi. 10.1093/hmg/ddq465

By:

Michaud, Annie;
Bur, Daniel;
Gribouval, Olivier;
Muller, Laurent;
Iturrioz, Xavier;
Clemessy, Maud;
Gasc, Jean-Marie;
Gubler, Marie-Claire;
Corvol, Pierre

Publication type:

Article

Disruption of PCP signaling causes limb morphogenesis and skeletal defects and may underlie Robinow syndrome and brachydactyly type B.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 271, doi. 10.1093/hmg/ddq462

By:

Wang, Bing;
Sinha, Tanvi;
Jiao, Kai;
Serra, Rosa;
Wang, Jianbo

Publication type:

Article

Most genome-wide significant susceptibility loci for schizophrenia and bipolar disorder reported to date cross-traditional diagnostic boundaries.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 387, doi. 10.1093/hmg/ddq471

By:

Williams, Hywel J.;
Craddock, Nicholas;
Russo, Giancarlo;
Hamshere, Marian L.;
Moskvina, Valentina;
Dwyer, Sarah;
Smith, Rhodri L.;
Green, Elaine;
Grozeva, Detelina;
Holmans, Peter;
Owen, Michael J.;
O'Donovan, Michael C.

Publication type:

Article

Endothelial cells from humans and mice with polycystic kidney disease are characterized by polyploidy and chromosome segregation defects through survivin down-regulation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 354, doi. 10.1093/hmg/ddq470

By:

AbouAlaiwi, Wissam A.;
Ratnam, Shobha;
Booth, Robert L.;
Shah, Jagesh V.;
Nauli, Surya M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq532
Publication type:: Article

Systemic splicing factor deficiency causes tissue-specific defects: a zebrafish model for retinitis pigmentosa†.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 368, doi. 10.1093/hmg/ddq473

By:

Linder, Bastian;
Dill, Holger;
Hirmer, Anja;
Brocher, Jan;
Lee, Gek Ping;
Mathavan, Sinnakaruppan;
Bolz, Hanno Jörn;
Winkler, Christoph;
Laggerbauer, Bernhard;
Fischer, Utz

Publication type:

Article

Npc1 haploinsufficiency promotes weight gain and metabolic features associated with insulin resistance.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 312, doi. 10.1093/hmg/ddq466

By:

Jelinek, David;
Millward, Veronica;
Birdi, Amandip;
Trouard, Theodore P.;
Heidenreich, Randall A.;
Garver, William S.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq533
Publication type:: Article

Evidence of severe mitochondrial oxidative stress and a protective effect of low oxygen in mouse models of inherited photoreceptor degeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 322, doi. 10.1093/hmg/ddq467

By:

Vlachantoni, Dafni;
Bramall, Alexa N.;
Murphy, Michael P.;
Taylor, Robert W.;
Shu, Xinhua;
Tulloch, Brian;
Van Veen, Theo;
Turnbull, Douglass M.;
McInnes, Roderick R.;
Wright, Alan F.

Publication type:

Article

Rare melanocortin-3 receptor mutations with in vitro functional consequences are associated with human obesity.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 392, doi. 10.1093/hmg/ddq472

By:

Mencarelli, Monica;
Dubern, Beatrice;
Alili, Rohia;
Maestrini, Sabrina;
Benajiba, Lina;
Tagliaferri, Mariantonella;
Galan, Pilar;
Rinaldi, Maura;
Simon, Chantal;
Tounian, Patrick;
Hercberg, Serge;
Liuzzi, Antonio;
Di Blasio, Anna Maria;
Clement, Karine

Publication type:

Article

Astrocyte loss of mutant SOD1 delays ALS disease onset and progression in G85R transgenic mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 286, doi. 10.1093/hmg/ddq463

By:

Wang, Lijun;
Gutmann, David H.;
Roos, Raymond P.

Publication type:

Article

Defective gonadotropin-releasing hormone neuron migration in mice lacking SEMA3A signalling through NRP1 and NRP2: implications for the aetiology of hypogonadotropic hypogonadism.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 336, doi. 10.1093/hmg/ddq468

By:

Cariboni, Anna;
Davidson, Kathryn;
Rakic, Sonja;
Maggi, Roberto;
Parnavelas, John G.;
Ruhrberg, Christiana

Publication type:

Article

ERK activation by the polyphenols fisetin and resveratrol provides neuroprotection in multiple models of Huntington's disease.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 261, doi. 10.1093/hmg/ddq460

By:

Maher, Pamela;
Dargusch, Richard;
Bodai, Laszlo;
Gerard, Paul E.;
Purcell, Judith M.;
Marsh, J. Lawrence

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq535
Publication type:: Article

Telomere deficiencies on chromosomes 9p, 15p, 15q and Xp: potential biomarkers for breast cancer risk.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 378, doi. 10.1093/hmg/ddq461

By:

Zheng, Yun-Ling;
Zhou, Xin;
Loffredo, Christopher A.;
Shields, Peter G.;
Sun, Bing

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 2, p. NP, doi. 10.1093/hmg/ddq534
Publication type:: Article

The Opdc missense mutation of Pax2 has a milder than loss-of-function phenotype.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 223, doi. 10.1093/hmg/ddq457

By:

Cross, Sally H.;
McKie, Lisa;
West, Katrine;
Coghill, Emma L.;
Favor, Jack;
Bhattacharya, Shoumo;
Brown, Steve D.M.;
Jackson, Ian J.

Publication type:

Article

Dystrophin conferral using human endothelium expressing HLA-E in the non-immunosuppressive murine model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 235, doi. 10.1093/hmg/ddq458

By:

Cui, Chang-Hao;
Miyoshi, Shunichiro;
Tsuji, Hiroko;
Makino, Hatsune;
Kanzaki, Seiichi;
Kami, Daisuke;
Terai, Masanori;
Suzuki, Harumi;
Umezawa, Akihiro

Publication type:

Article

A novel Caenorhabditis elegans allele, smn-1(cb131), mimicking a mild form of spinal muscular atrophy, provides a convenient drug screening platform highlighting new and pre-approved compounds.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 2, p. 245, doi. 10.1093/hmg/ddq459

By:

Sleigh, James N.;
Buckingham, Steven D.;
Esmaeili, Behrooz;
Viswanathan, Mohan;
Cuppen, Edwin;
Westlund, Bethany M.;
Sattelle, David B.

Publication type:

Article