Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 11

Results: 18

Neurofibromin is a novel regulator of RAS-induced signals in primary vascular smooth muscle cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1921, doi. 10.1093/hmg/ddl114

By:

Li, Fang;
Munchhof, Amy M.;
White, Hilary A.;
Mead, Laura E.;
Krier, Theresa R.;
Fenoglio, Amy;
Chen, Shi;
Wu, Xiaohua;
Cai, Shanbao;
Yang, Feng-Chun;
Ingram, David A.

Publication type:

Article

Genetic variation in IL6 gene and type 2 diabetes: tagging-SNP haplotype analysis in large-scale case–control study and meta-analysis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1914, doi. 10.1093/hmg/ddl113

By:

Qi, Lu;
van Dam, Rob M.;
Meigs, James B.;
Manson, JoAnn E.;
Hunter, David;
Hu, Frank B.

Publication type:

Article

Common genetic variants of the FADS1 FADS2 gene cluster and their reconstructed haplotypes are associated with the fatty acid composition in phospholipids.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1745, doi. 10.1093/hmg/ddl117

By:

Schaeffer, Linda;
Gohlke, Henning;
Müller, Martina;
Heid, Iris M.;
Palmer, Lyle J.;
Kompauer, Iris;
Demmelmair, Hans;
Illig, Thomas;
Koletzko, Berthold;
Heinrich, Joachim

Publication type:

Article

The role of PI3K/AKT, MAPK/ERK and NFκβ signalling in the maintenance of human embryonic stem cell pluripotency and viability highlighted by transcriptional profiling and functional analysis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1894, doi. 10.1093/hmg/ddl112

By:

Armstrong, Lyle;
Hughes, Owen;
Yung, Sun;
Hyslop, Louise;
Stewart, Rebecca;
Wappler, Ilka;
Peters, Heiko;
Walter, Theresia;
Stojkovic, Petra;
Evans, Jerome;
Stojkovic, Miodrag;
Lako, Majlinda

Publication type:

Article

Obesity, hyperphagia and increased metabolic efficiency in Pc1 mutant mice.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1884, doi. 10.1093/hmg/ddl111

By:

Lloyd, David J.;
Bohan, Sandy;
Gekakis, Nicholas

Publication type:

Article

Pharmacologic and genetic inhibition of hsp90-dependent trafficking reduces aggregation and promotes degradation of the expanded glutamine androgen receptor without stress protein induction.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1876, doi. 10.1093/hmg/ddl110

By:

Thomas, Monzy;
Harrell, Jennifer M.;
Morishima, Yoshihiro;
Peng, Hwei-Ming;
Pratt, William B.;
Lieberman, Andrew P.

Publication type:

Article

Origination and evolution of a human-specific transmembrane protein gene, c1orf37-dup.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1870, doi. 10.1093/hmg/ddl109

By:

Yu, Haijing;
Jiang, Huifeng;
Zhou, Qi;
Yang, Jufen;
Cun, Yina;
Su, Bing;
Xiao, Chunjie;
Wang, Wen

Publication type:

Article

Neurofibroma-associated growth factors activate a distinct signaling network to alter the function of neurofibromin-deficient endothelial cells.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1858, doi. 10.1093/hmg/ddl108

By:

Munchhof, Amy M.;
Li, Fang;
White, Hilary A.;
Mead, Laura E.;
Krier, Theresa R.;
Fenoglio, Amy;
Li, Xiaohong;
Yuan, Jin;
Yang, Feng-Chun;
Ingram, David A.

Publication type:

Article

A heterozygous activating mutation in the sulphonylurea receptor SUR1 (ABCC8) causes neonatal diabetes.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1793, doi. 10.1093/hmg/ddl101

By:

Proks, Peter;
Arnold, Amanda L.;
Bruining, Jan;
Girard, Christophe;
Flanagan, Sarah E.;
Larkin, Brian;
Colclough, Kevin;
Hattersley, Andrew T.;
Ashcroft, Frances M.;
Ellard, Sian

Publication type:

Article

In-frame deletion in a novel centrosomal/ciliary protein CEP290/NPHP6 perturbs its interaction with RPGR and results in early-onset retinal degeneration in the rd16 mouse.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1847, doi. 10.1093/hmg/ddl107

By:

Chang, Bo;
Khanna, Hemant;
Hawes, Norman;
Jimeno, David;
He, Shirley;
Lillo, Concepcion;
Parapuram, Sunil K.;
Cheng, Hong;
Scott, Alison;
Hurd, Ron E.;
Sayer, John A.;
Otto, Edgar A.;
Attanasio, Massimo;
O'Toole, John F.;
Jin, Genglin;
Shou, Chengchao;
Hildebrandt, Friedhelm;
Williams, David S.;
Heckenlively, John R.;
Swaroop, Anand

Publication type:

Article

Endoplasmic reticulum stress-induced caspase-4 activation mediates apoptosis and neurodegeneration in INCL.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1826, doi. 10.1093/hmg/ddl105

By:

Kim, Sung-Jo;
Zhang, Zhongjian;
Hitomi, Emiko;
Lee, Yi-Ching;
Mukherjee, Anil B.

Publication type:

Article

Association of PINK1 and DJ-1 confers digenic inheritance of early-onset Parkinson's disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1816, doi. 10.1093/hmg/ddl104

By:

Tang, Beisha;
Xiong, Hui;
Sun, Ping;
Zhang, Yuhu;
Wang, Danling;
Hu, Zhengmao;
Zhu, Zanhua;
Ma, Hong;
Pan, Qian;
Xia, Jia-hui;
Xia, Kun;
Zhang, Zhuohua

Publication type:

Article

DM2 intronic expansions: evidence for CCUG accumulation without flanking sequence or effects on ZNF9 mRNA processing or protein expression.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1808, doi. 10.1093/hmg/ddl103

By:

Margolis, Jamie M.;
Schoser, Benedikt G.;
Moseley, Melinda L.;
Day, John W.;
Ranum, Laura P.W.

Publication type:

Article

Suppression of disease phenotypes of adult mito-mice carrying pathogenic mtDNA by bone marrow transplantation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1801, doi. 10.1093/hmg/ddl102

By:

Inoue, Shin-Ichi;
Ishikawa, Kaori;
Nakada, Kazuto;
Sato, Akitsugu;
Miyoshi, Hiroyuki;
Hayashi, Jun-Ichi

Publication type:

Article

The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1835, doi. 10.1093/hmg/ddl106

By:

Antonicka, Hana;
Sasarman, Florin;
Kennaway, Nancy G.;
Shoubridge, Eric A.

Publication type:

Article

Defects in articular cartilage metabolism and early arthritis in fibroblast growth factor receptor 3 deficient mice.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1783, doi. 10.1093/hmg/ddl100

By:

Valverde-Franco, G.;
Binette, J.S.;
Li, W.;
Wang, H.;
Chai, S.;
Laflamme, F.;
Tran-Khanh, N.;
Quenneville, E.;
Meijers, T.;
Poole, A.R.;
Mort, J.S.;
Buschmann, M.D.;
Henderson, J.E.

Publication type:

Article

Identification of cis-regulatory elements for MECP2 expression.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1769, doi. 10.1093/hmg/ddl099

By:

Liu, Jinglan;
Francke, Uta

Publication type:

Article

Mitochondrial localization of telomerase as a determinant for hydrogen peroxide-induced mitochondrial DNA damage and apoptosis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 11, p. 1757, doi. 10.1093/hmg/ddl098

By:

Santos, Janine Hertzog;
Meyer, Joel N.;
Van Houten, Bennett

Publication type:

Article