Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 17

Results: 15

Molecular scanning of the human sorbin and SH3-domain-containing-1 ( SORBS1) gene: positive association of the T228A polymorphism with obesity and type 2 diabetes.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1753, doi. 10.1093/hmg/10.17.1753

By:

Lin, Wen-Hsing;
Chiu, Ken C.;
Chang, Hui-Min;
Lee, Kuan-Chin;
Tai, Tong-Yuan;
Chuang, Lee-Ming

Publication type:

Article

Domain homologues of dopamine β -hydroxylase and ferric reductase: roles for iron metabolism in neurodegenerative disorders?

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1853, doi. 10.1093/hmg/10.17.1853

By:

Ponting, Chris P.

Publication type:

Article

Identification of an endogenous RNA transcribed from the antisense strand of the HFE gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1859, doi. 10.1093/hmg/10.17.1859

By:

Thénié, Agnès C.;
Gicquel, Isabelle M.;
Hardy, Serge;
Ferran, Hélène;
Fergelot, Patricia;
Le Gall, Jean-Yves;
Mosser, Jean

Publication type:

Article

Quantitative effects on gene silencing by allelic variation at a tetranucleotide microsatellite.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1785, doi. 10.1093/hmg/10.17.1785

By:

Albanèse, Véronique;
Biguet, Nicole Faucon;
Kiefer, Hélène;
Bayard, Elisa;
Mallet, Jacques;
Meloni, Rolando

Publication type:

Article

The mutational spectrum of human malignant autosomal recessive osteopetrosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1767, doi. 10.1093/hmg/10.17.1767

By:

Sobacchi, Cristina;
Frattini, Annalisa;
Orchard, Paul;
Porras, Oscar;
Tezcan, Ilhan;
Andolina, Marino;
Babul-Hirji, Riyana;
Baric, Ivo;
Canham, Natalie;
Chitayat, David;
Dupuis-Girod, Sophie;
Ellis, Ian;
Etzioni, Amos;
Fasth, Anders;
Fisher, Alain;
Gerritsen, Bert;
Gulino, Virginia;
Horwitz, Edwin;
Klamroth, Verena;
Lanino, Edoardo

Publication type:

Article

Divergent evolution in M6P/IGF2R imprinting from the Jurassic to the Quaternary.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1721, doi. 10.1093/hmg/10.17.1721

By:

Killian, J. Keith;
Nolan, Catherine M.;
Wylie, Andrew A.;
Li, Tao;
Vu, Thanh H.;
Hoffman, Andrew R.;
Jirtle, Randy L.

Publication type:

Article

Quantitative localization of heterogeneous methyl-CpG-binding protein 2 (MeCP2) expression phenotypes in normal and Rett syndrome brain by laser scanning cytometry.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1729, doi. 10.1093/hmg/10.17.1729

By:

LaSalle, Janine M.;
Goldstine, Jared;
Balmer, Damina;
Greco, Claudia M.

Publication type:

Article

Pathological and genetic analysis of the degenerating muscle (dmu) mouse: a new allele of Scn8a.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1819, doi. 10.1093/hmg/10.17.1819

By:

De Repentigny, Yves;
Côté, Patrice D.;
Pool, Madeline;
Bernier, Gilbert;
Girard, Sonia;
Vidal, Silvia M.;
Kothary, Rashmi

Publication type:

Article

Mutations in the X-linked filamin 1 gene cause periventricular nodular heterotopia in males as well as in females.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1775, doi. 10.1093/hmg/10.17.1775

By:

Sheen, Volney L.;
Dixon, Peter H.;
Fox, Jeremy W.;
Hong, Susan E.;
Kinton, Lucy;
Sisodiya, Sanjay M.;
Duncan, John S.;
Dubeau, Francois;
Scheffer, Ingrid E.;
Schachter, Steven C.;
Wilner, Andrew;
Henchy, Ruth;
Crino, Peter;
Kamuro, Kazuhiro;
DiMario, Frances;
Berg, Michel;
Kuzniecky, Ruben;
Cole, Andrew J.;
Bromfield, Edward;
Biber, Michael

Publication type:

Article

Fumarylacetoacetate, the metabolite accumulating in hereditary tyrosinemia, activates the ERK pathway and induces mitotic abnormalities and genomic instability.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1741, doi. 10.1093/hmg/10.17.1741

By:

Jorquera, Rossana;
Tanguay, Robert M.

Publication type:

Article

α -synuclein gene haplotypes are associated with Parkinson’s disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1847, doi. 10.1093/hmg/10.17.1847

By:

Farrer, Matt;
Maraganore, Demetrius M.;
Lockhart, Paul;
Singleton, Andrew;
Lesnick, T.G.;
de Andrade, Mariza;
West, Andrew;
de Silva, Rohan;
Hardy, John;
Hernandez, Dena

Publication type:

Article

The sarcolemmal proteins dysferlin and caveolin-3 interact in skeletal muscle.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1761, doi. 10.1093/hmg/10.17.1761

By:

Matsuda, Chie;
Hayashi, Yukiko K.;
Ogawa, Megumu;
Aoki, Masashi;
Murayama, Kumiko;
Nishino, Ichizo;
Nonaka, Ikuya;
Arahata, Kiichi;
Brown, Jr., Robert H.

Publication type:

Article

Insights into psoriasis and other inflammatory diseases from large-scale gene expression studies.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1793, doi. 10.1093/hmg/10.17.1793

By:

Bowcock, M.;
Shannon, William;
Du, Fenghe;
Duncan, Jill;
Cao, Kai;
Aftergut, Kent;
Catier, Jennifer;
Fernandez-Vina, A.;
Menter, Alan

Publication type:

Article

Polyglutamine expansions cause decreased CRE-mediated transcription and early gene expression changes prior to cell death in an inducible cell model of Huntington’s disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1829, doi. 10.1093/hmg/10.17.1829

By:

Wyttenbach, Andreas;
Swartz, Jina;
Kita, Hiroko;
Thykjaer, Thomas;
Carmichael, Jenny;
Bradley, Jane;
Brown, Rosemary;
Maxwell, Michelle;
Schapira, Anthony;
Orntoft, Torben F.;
Kato, Kikuya;
Rubinsztein, David C.

Publication type:

Article

The huntingtin interacting protein HIP1 is a clathrin and α -adaptin-binding protein involved in receptor-mediated endocytosis.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 17, p. 1807, doi. 10.1093/hmg/10.17.1807

By:

Waelter, Stephanie;
Scherzinger, Eberhard;
Hasenbank, Renate;
Nordhoff, Eckhard;
Lurz, Rudi;
Goehler, Heike;
Gauss, Christine;
Sathasivam, Kirupa;
Bates, Gillian P.;
Lehrach, Hans;
Wanker, Erich E.

Publication type:

Article