Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 16

Results: 15

Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2541, doi. 10.1093/hmg/ddn154

By:

Maussion, Gilles;
Carayol, Jérôme;
Lepagnol-Bestel, Aude-Marie;
Tores, Frédéric;
Loe-Mie, Yann;
Milbreta, Ulla;
Rousseau, Francis;
Fontaine, Karine;
Renaud, Julie;
Moalic, Jean-Marie;
Philippi, Anne;
Chedotal, Alain;
Gorwood, Philip;
Ramoz, Nicolas;
Hager, Jörg;
Simonneau, Michel

Publication type:

Article

LAPSER1/LZTS2: a pluripotent tumor suppressor linked to the inhibition of katanin-mediated microtubule severing.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2524, doi. 10.1093/hmg/ddn153

By:

Sudo, Haruka;
Maru, Yoshiro

Publication type:

Article

A regulatory SNP of the BICD1 gene contributes to telomere length variation in humans.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2518, doi. 10.1093/hmg/ddn152

By:

Mangino, Massimo;
Brouilette, Scott;
Braund, Peter;
Tirmizi, Nighat;
Vasa-Nicotera, Mariuca;
Thompson, John R.;
Samani, Nilesh J.

Publication type:

Article

Cell-lineage regulated myogenesis for dystrophin replacement: a novel therapeutic approach for treatment of muscular dystrophy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2507, doi. 10.1093/hmg/ddn151

By:

Kimura, En;
Han, Jay J.;
Li, Sheng;
Fall, Brent;
Ra, Jennifer;
Haraguchi, Miki;
Tapscott, Stephen J.;
Chamberlain, Jeffrey S.

Publication type:

Article

A variant in the sonic hedgehog regulatory sequence (ZRS) is associated with triphalangeal thumb and deregulates expression in the developing limb.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2417, doi. 10.1093/hmg/ddn141

By:

Furniss, Dominic;
Lettice, Laura A.;
Taylor, Indira B.;
Critchley, Paul S.;
Giele, Henk;
Hill, Robert E.;
Wilkie, Andrew O.M.

Publication type:

Article

Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2496, doi. 10.1093/hmg/ddn150

By:

Ashley, Neil;
O'Rourke, Anthony;
Smith, Conrad;
Adams, Susan;
Gowda, Vasantha;
Zeviani, Massimo;
Brown, Garry K.;
Fratter, Carl;
Poulton, Joanna

Publication type:

Article

Thymidine kinase 2 (H126N) knockin mice show the essential role of balanced deoxynucleotide pools for mitochondrial DNA maintenance.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2433, doi. 10.1093/hmg/ddn143

By:

Akman, Hasan O.;
Dorado, Beatriz;
López, Luis C.;
García-Cazorla, Ángeles;
Vilà, Maya R.;
Tanabe, Lauren M.;
Dauer, William T.;
Bonilla, Eduardo;
Tanji, Kurenai;
Hirano, Michio

Publication type:

Article

Abnormal social behaviors and altered gene expression rates in a mouse model for Potocki-Lupski syndrome.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2486, doi. 10.1093/hmg/ddn148

By:

Molina, Jessica;
Carmona-Mora, Paulina;
Chrast, Jacqueline;
Krall, Paola M.;
Canales, César P.;
Lupski, James R.;
Reymond, Alexandre;
Walz, Katherina

Publication type:

Article

Autophagy-mediated clearance of aggresomes is not a universal phenomenon.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2570, doi. 10.1093/hmg/ddn157

By:

Wong, Esther S.P.;
Tan, Jeanne M.M.;
Soong, Wen-E;
Hussein, Kamila;
Nukina, Nobuyuki;
Dawson, Valina L.;
Dawson, Ted M.;
Cuervo, Ana Maria;
Lim, Kah-Leong

Publication type:

Article

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2552, doi. 10.1093/hmg/ddn156

By:

Kariya, Shingo;
Park, Gyu-Hwan;
Maeno-Hikichi, Yuka;
Leykekhman, Olga;
Lutz, Cathleen;
Arkovitz, Marc S.;
Landmesser, Lynn T.;
Monani, Umrao R.

Publication type:

Article

The Primary open-angle glaucoma gene WDR36 functions in ribosomal RNA processing and interacts with the p53 stress–response pathway.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2474, doi. 10.1093/hmg/ddn147

By:

Skarie, Jonathan M.;
Link, Brian A.

Publication type:

Article

ccm1 cell autonomously regulates endothelial cellular morphogenesis and vascular tubulogenesis in zebrafish.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2424, doi. 10.1093/hmg/ddn142

By:

Hogan, Benjamin M.;
Bussmann, Jeroen;
Wolburg, Hartwig;
Schulte-Merker, Stefan

Publication type:

Article

Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2441, doi. 10.1093/hmg/ddn144

By:

Pawlisz, Ashley S.;
Mutch, Christopher;
Wynshaw-Boris, Anthony;
Chenn, Anjen;
Walsh, Christopher A.;
Feng, Yuanyi

Publication type:

Article

No association between the SRD5A2 gene A49T missense variant and prostate cancer risk: lessons learned.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2456, doi. 10.1093/hmg/ddn145

By:

Pearce, C. Leigh;
Van Den Berg, David J.;
Makridakis, Nick;
Reichardt, Juergen K.V.;
Ross, Ronald K.;
Pike, Malcolm C.;
Kolonel, Laurence N.;
Henderson, Brian E.

Publication type:

Article

Elucidating the relationship between DISC1, NDEL1 and NDE1 and the risk for schizophrenia: Evidence of epistasis and competitive binding.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 16, p. 2462, doi. 10.1093/hmg/ddn146

By:

Burdick, Katherine E.;
Kamiya, Atsushi;
Hodgkinson, Colin A.;
Lencz, Todd;
DeRosse, Pamela;
Ishizuka, Koko;
Elashvili, Sarah;
Arai, Hiroyuki;
Goldman, David;
Sawa, Akira;
Malhotra, Anil K.

Publication type:

Article