Works matching IS 09646906 AND DT 2003 AND VI 12 AND IP 12

Results: 10

The p38 subunit of the aminoacyl-tRNA synthetase complex is a Parkin substrate: linking protein biosynthesis and neurodegeneration.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1427, doi. 10.1093/hmg/ddg159

By:

Corti, Olga;
Hampe, Cornelia;
Koutnikova, Hana;
Darios, Frédéric;
Jacquier, Sandrine;
Prigent, Annick;
Robinson, Jean-Charles;
Pradier, Laurent;
Ruberg, Merle;
Mirande, Marc;
Hirsch, Etienne;
Rooney, Thomas;
Fournier, Alain;
Brice, Alexis

Publication type:

Article

Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1439, doi. 10.1093/hmg/ddg158

By:

Sock, Elisabeth;
Pagon, Roberta A.;
Keymolen, Kathelijn;
Lissens, Willy;
Wegner, Michael;
Scherer, Gerd

Publication type:

Article

Neuromuscular defects in a Drosophila survival motor neuron gene mutant.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1367, doi. 10.1093/hmg/ddg157

By:

Chan, Yick Bun;
Miguel-Aliaga, Irene;
Franks, Chris;
Thomas, Natasha;
Trülzsch, Barbara;
Sattelle, David B.;
Davies, Kay E.;
van den Heuvel, Marcel

Publication type:

Article

IL1 receptor accessory protein like, a protein involved in X-linked mental retardation, interacts with Neuronal Calcium Sensor-1 and regulates exocytosis.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1415, doi. 10.1093/hmg/ddg147

By:

Bahi, Nadia;
Friocourt, Gaelle;
Carrié, Alain;
Graham, Margaret E.;
Weiss, Jamie L.;
Chafey, Philippe;
Fauchereau, Fabien;
Burgoyne, Robert D.;
Chelly, Jamel

Publication type:

Article

Huntingtin contains a highly conserved nuclear export signal.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1393, doi. 10.1093/hmg/ddg156

By:

Xia, Jianrun;
Lee, Denise H.;
Taylor, Jillian;
Vandelft, Mark;
Truant, Ray

Publication type:

Article

Maternal alleles acquiring paternal methylation patterns in biparental complete hydatidiform moles.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1405, doi. 10.1093/hmg/ddg152

By:

El-Maarri, Osman;
Seoud, Muhieddine;
Coullin, Philippe;
Herbiniaux, Ursula;
Oldenburg, Johannes;
Rouleau, Guy;
Slim, Rima

Publication type:

Article

Polyglutamine protein aggregation and toxicity are linked to the cellular stress response.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1377, doi. 10.1093/hmg/ddg151

By:

Cowan, K.J.;
Diamond, M.I.;
Welch, W.J.

Publication type:

Article

Typical type 2 diabetes mellitus and HFE gene mutations: a population-based case – control study.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1361, doi. 10.1093/hmg/ddg149

By:

Halsall, David J.;
McFarlane, Ian;
Luan, Jian'an;
Cox, Timothy M.;
Wareham, Nicholas J.

Publication type:

Article

Candidate DNA replication initiation regions at human trinucleotide repeat disease loci.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1461, doi. 10.1093/hmg/ddg155

By:

Nenguke, Taurai;
Aladjem, Mirit I.;
Gusella, James F.;
Wexler, Nancy S.;
Arnheim, Norman

Publication type:

Article

Fukutin is required for maintenance of muscle integrity, cortical histiogenesis and normal eye development.

Published in:

Human Molecular Genetics, 2003, v. 12, n. 12, p. 1449, doi. 10.1093/hmg/ddg153

By:

Takeda, Satoshi;
Kondo, Mari;
Sasaki, Junko;
Kurahashi, Hiroki;
Kano, Hiroki;
Arai, Ken;
Misaki, Kazuyo;
Fukui, Takehiko;
Kobayashi, Kazuhiro;
Tachikawa, Masaji;
Imamura, Michihiro;
Nakamura, Yusuke;
Shimizu, Teruo;
Murakami, Tatsufumi;
Sunada, Yoshihide;
Fujikado, Takashi;
Matsumura, Kiichiro;
Terashima, Toshio;
Toda, Tatsushi

Publication type:

Article