Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 11

Results: 16

Huntingtin phosphorylation on serine 421 is significantly reduced in the striatum and by polyglutamine expansion in vivo.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1569, doi. 10.1093/hmg/ddi165

By:

Warby, Simon C.;
Chan, Edmond Y.;
Metzler, Martina;
Gan, Lu;
Singaraja, Roshni R.;
Crocker, Susan F.;
Robertson, Harold A.;
Hayden, Michael R.

Publication type:

Article

Human–mouse comparative analysis reveals that branch-site plasticity contributes to splicing regulation.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1559, doi. 10.1093/hmg/ddi164

By:

Kol, Guy;
Lev-Maor, Galit;
Ast, Gil

Publication type:

Article

Genome-wide linkage identifies novel modifier loci of aganglionosis in the Sox10Dom model of Hirschsprung disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1549, doi. 10.1093/hmg/ddi163

By:

Owens, Sarah E.;
Broman, Karl W.;
Wiltshire, Tim;
Elmore, J. Bradford;
Bradley, Kevin M.;
Smith, Jeffrey R.;
Southard-Smith, E. Michelle

Publication type:

Article

Transgenic mice expressing CUG-BP1 reproduce splicing mis-regulation observed in myotonic dystrophy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1539, doi. 10.1093/hmg/ddi162

By:

Ho, Thai H.;
Bundman, Donnie;
Armstrong, Dawna L.;
Cooper, Thomas A.

Publication type:

Article

Sustained ERK1/2 but not STAT1 or 3 activation is required for thanatophoric dysplasia phenotypes in PC12 cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1529, doi. 10.1093/hmg/ddi161

By:

Nowroozi, Nakisa;
Raffioni, Simona;
Wang, Tracy;
Apostol, Barbara L.;
Bradshaw, Ralph A.;
Thompson, Leslie Michels

Publication type:

Article

Genetic models show that parathyroid hormone and 1,25-dihydroxyvitamin D3 play distinct and synergistic roles in postnatal mineral ion homeostasis and skeletal development.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1515, doi. 10.1093/hmg/ddi160

By:

Xue, Yingben;
Karaplis, Andrew C.;
Hendy, Geoffrey N.;
Goltzman, David;
Miao, Dengshun

Publication type:

Article

Loss of ZMPSTE24 (FACE-1) causes autosomal recessive restrictive dermopathy and accumulation of Lamin A precursors.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1503, doi. 10.1093/hmg/ddi159

By:

Navarro, Claire L.;
Cadiñanos, Juan;
Sandre-Giovannoli, Annachiara De;
Bernard, Rafaëlle;
Courrier, Sébastien;
Boccaccio, Irène;
Boyer, Amandine;
Kleijer, Wim J.;
Wagner, Anja;
Giuliano, Fabienne;
Beemer, Frits A.;
Freije, Jose M.;
Cau, Pierre;
Hennekam, Raoul C.M.;
López-Otín, Carlos;
Badens, Catherine;
Lévy, Nicolas

Publication type:

Article

Altered pre-lamin A processing is a common mechanism leading to lipodystrophy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1489, doi. 10.1093/hmg/ddi158

By:

Capanni, Cristina;
Mattioli, Elisabetta;
Columbaro, Marta;
Lucarelli, Enrico;
Parnaik, Veena K.;
Novelli, Giuseppe;
Wehnert, Manfred;
Cenni, Vittoria;
Maraldi, Nadir M.;
Squarzoni, Stefano;
Lattanzi, Giovanna

Publication type:

Article

Hydrolethalus syndrome is caused by a missense mutation in a novel gene HYLS1.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1475, doi. 10.1093/hmg/ddi157

By:

Mee, Lisa;
Honkala, Heli;
Kopra, Outi;
Vesa, Jouni;
Finnilä, Saara;
Visapää, Ilona;
Sang, Tzu-Kang;
Jackson, George R.;
Salonen, Riitta;
Kestilä, Marjo;
Peltonen, Leena

Publication type:

Article

Identification and characterization of a novel gene Saf transcribed from the opposite strand of Fas.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1465, doi. 10.1093/hmg/ddi156

By:

Yan, Ming-De;
Hong, Chih-Chen;
Lai, Gi-Ming;
Cheng, Ann-Lii;
Lin, Ya-Wen;
Chuang, Shuang-En

Publication type:

Article

Phytoestrogen exposure elevates PTEN levels.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1457, doi. 10.1093/hmg/ddi155

By:

Waite, Kristin A.;
Sinden, Michelle R.;
Eng, Charis

Publication type:

Article

Toll-like receptor 4 variant D299G is associated with susceptibility to age-related macular degeneration.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1449, doi. 10.1093/hmg/ddi154

By:

Zareparsi, Sepideh;
Buraczynska, Monika;
Branham, Kari E.H.;
Shah, Sapna;
Eng, Donna;
Li, Mingyao;
Pawar, Hemant;
Yashar, Beverly M.;
Moroi, Sayoko E.;
Lichter, Paul R.;
Petty, Howard R.;
Richards, Julia E.;
Abecasis, Gonçalo R.;
Elner, Victor M.;
Swaroop, Anand

Publication type:

Article

Lowe syndrome protein Ocrl1 is translocated to membrane ruffles upon Rac GTPase activation: a new perspective on Lowe syndrome pathophysiology.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1441, doi. 10.1093/hmg/ddi153

By:

Faucherre, Adèle;
Desbois, Pierrette;
Nagano, Fumiko;
Satre, Véronique;
Lunardi, Joël;
Gacon, Gérard;
Dorseuil, Olivier

Publication type:

Article

A role for fibroblast growth factor receptor-2 in the altered osteoblast phenotype induced by Twist haploinsufficiency in the Saethre–Chotzen syndrome.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1429, doi. 10.1093/hmg/ddi152

By:

Guenou, Hind;
Kaabeche, Karim;
Mée, Sandrine Le;
Marie, Pierre J.

Publication type:

Article

SINE exonic insertion in the PTPLA gene leads to multiple splicing defects and segregates with the autosomal recessive centronuclear myopathy in dogs.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1417, doi. 10.1093/hmg/ddi151

By:

Pelé, Manuel;
Tiret, Laurent;
Kessler, Jean-Louis;
Blot, Stéphane;
Panthier, Jean-Jacques

Publication type:

Article

The Charcot–Marie–Tooth type 2A gene product, Mfn2, up-regulates fuel oxidation through expression of OXPHOS system.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 11, p. 1405, doi. 10.1093/hmg/ddi149

By:

Pich, Sara;
Bach, Daniel;
Briones, Paz;
Liesa, Marc;
Camps, Marta;
Testar, Xavier;
Palacín, Manuel;
Zorzano, Antonio

Publication type:

Article