Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 15

Results: 15

Epidermal expression of the truncated prelamin A causing Hutchinson–Gilford progeria syndrome: effects on keratinocytes, hair and skin.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2357, doi. 10.1093/hmg/ddn136

By:

Wang, Yuexia;
Panteleyev, Andrey A.;
Owens, David M.;
Djabali, Karima;
Stewart, Colin L.;
Worman, Howard J.

Publication type:

Article

Major basic protein-1 promotes fibrosis of dystrophic muscle and attenuates the cellular immune response in muscular dystrophy.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2280, doi. 10.1093/hmg/ddn129

By:

Wehling-Henricks, Michelle;
Sokolow, Sophie;
Lee, Jamie J.;
Myung, Kyu H.;
Villalta, S. Armando;
Tidball, James G.

Publication type:

Article

Evidence that the gene encoding insulin degrading enzyme influences human lifespan.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2370, doi. 10.1093/hmg/ddn137

By:

Hong, Mun-Gwan;
Reynolds, Chandra;
Gatz, Margaret;
Johansson, Boo;
Palmer, Jennifer C.;
Gu, Harvest F.;
Blennow, Kaj;
Kehoe, Patrick G.;
de Faire, Ulf;
Pedersen, Nancy L.;
Prince, Jonathan A.

Publication type:

Article

Nf1+/− mice have increased neointima formation via hyperactivation of a Gleevec sensitive molecular pathway.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2336, doi. 10.1093/hmg/ddn134

By:

Lasater, Elisabeth A.;
Bessler, Waylan K.;
Mead, Laura E.;
Horn, Whitney E.;
Clapp, D. Wade;
Conway, Simon J.;
Ingram, David A.;
Li, Fang

Publication type:

Article

Variants in the estrogen receptor alpha gene and its mRNA contribute to risk for schizophrenia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2293, doi. 10.1093/hmg/ddn130

By:

Weickert, Cynthia Shannon;
Miranda-Angulo, Ana L.;
Wong, Jenny;
Perlman, William R.;
Ward, Sarah E.;
Radhakrishna, Vakkalanka;
Straub, Richard E.;
Weinberger, Daniel R.;
Kleinman, Joel E.

Publication type:

Article

Neurological deficits and glycosphingolipid accumulation in saposin B deficient mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2345, doi. 10.1093/hmg/ddn135

By:

Sun, Ying;
Witte, David P.;
Ran, Huimin;
Zamzow, Matt;
Barnes, Sonya;
Cheng, Hua;
Han, Xianlin;
Williams, Michael T.;
Skelton, Matthew R.;
Vorhees, Charles V.;
Grabowski, Gregory A.

Publication type:

Article

Iron-dependent regulation of frataxin expression: implications for treatment of Friedreich ataxia.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2265

By:

Li, Kuanyu;
Besse, Edward K.;
Ha, Dung;
Kovtunovych, Gennadiy;
Rouault, Tracey A.

Publication type:

Article

Novel variants in human Aquaporin-4 reduce cellular water permeability.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2379, doi. 10.1093/hmg/ddn138

By:

Sorani, Marco D.;
Zador, Zsolt;
Hurowitz, Evan;
Yan, Donghong;
Giacomini, Kathleen M.;
Manley, Geoffrey T.

Publication type:

Article

Usher syndromes due to MYO7A, PCDH15, USH2A or GPR98 mutations share retinal disease mechanism.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2405, doi. 10.1093/hmg/ddn140

By:

Jacobson, Samuel G.;
Cideciyan, Artur V.;
Aleman, Tomas S.;
Sumaroka, Alexander;
Roman, Alejandro J.;
Gardner, Leigh M.;
Prosser, Haydn M.;
Mishra, Monalisa;
Bech-Hansen, N. Torben;
Herrera, Waldo;
Schwartz, Sharon B.;
Liu, Xue-Zhong;
Kimberling, William J.;
Steel, Karen P.;
Williams, David S.

Publication type:

Article

Activated caspase-6 and caspase-6-cleaved fragments of huntingtin specifically colocalize in the nucleus.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2390, doi. 10.1093/hmg/ddn139

By:

Warby, Simon C.;
Doty, Crystal N.;
Graham, Rona K.;
Carroll, Jeffrey B.;
Yang, Yu-Zhou;
Singaraja, Roshni R.;
Overall, Christopher M.;
Hayden, Michael R.

Publication type:

Article

Molecular dissection of ALS-associated toxicity of SOD1 in transgenic mice using an exon-fusion approach.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2310, doi. 10.1093/hmg/ddn131

By:

Han-Xiang, Deng;
Hujun, Jiang;
Ronggen, Fu;
Hong, Zhai;
Yong, Shi;
Erdong, Liu;
Makito, Hirano;
Mauro, C. Dal Canto;
Teepu, Siddique

Publication type:

Article

Re-evaluation of putative rheumatoid arthritis susceptibility genes in the post-genome wide association study era and hypothesis of a key pathway underlying susceptibility.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2274

By:

Barton, Anne;
Thomson, Wendy;
Ke, Xiayi;
Eyre, Steve;
Hinks, Anne;
Bowes, John;
Gibbons, Laura;
Plant, Darren;
Wilson, Anthony G.;
Marinou, Ioanna;
Morgan, Ann;
Emery, Paul;
Steer, Sophia;
Hocking, Lynne;
Reid, David M.;
Wordsworth, Paul;
Harrison, Pille;
Worthington, Jane

Publication type:

Article

Progressive loss of mitochondrial DNA in thymidine kinase 2-deficient mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2329, doi. 10.1093/hmg/ddn133

By:

Zhou, Xiaoshan;
Solaroli, Nicola;
Bjerke, Mia;
Stewart, James B.;
Rozell, Björn;
Johansson, Magnus;
Karlsson, Anna

Publication type:

Article

Susceptibility locus for clinical and subclinical coronary artery disease at chromosome 9p21 in the multi-ethnic ADVANCE study.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2320, doi. 10.1093/hmg/ddn132

By:

Assimes, Themistocles L.;
Knowles, Joshua W.;
Basu, Analabha;
Iribarren, Carlos;
Southwick, Audrey;
Tang, Hua;
Absher, Devin;
Li, Jun;
Fair, Joan M.;
Rubin, Geoffrey D.;
Sidney, Stephen;
Fortmann, Stephen P.;
Go, Alan S.;
Hlatky, Mark A.;
Myers, Richard M.;
Risch, Neil;
Quertermous, Thomas

Publication type:

Article

Sphingosine kinase 1/S1P receptor signaling axis controls glial proliferation in mice with Sandhoff disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 15, p. 2257, doi. 10.1093/hmg/ddn126

By:

Wu, Yun-Ping;
Mizugishi, Kiyomi;
Bektas, Meryem;
Sandhoff, Roger;
Proia, Richard L.

Publication type:

Article