Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 19

Results: 16

Distinct gene expression profiles and reduced JNK signaling in retinitis pigmentosa caused by RP1 mutations.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2945, doi. 10.1093/hmg/ddi325

By:

Liu, Jiewu;
Huang, Qian;
Higdon, Jason;
Liu, Wei;
Xie, Tao;
Yamashita, Tetsuji;
Cheon, Kyeogmi;
Cheng, Cheng;
Zuo, Jian

Publication type:

Article

Impaired genomic stability and increased oxidative stress exacerbate different features of Ataxia-telangiectasia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2929, doi. 10.1093/hmg/ddi324

By:

Ziv, Shelly;
Brenner, Ori;
Amariglio, Ninette;
Smorodinsky, Nechama I.;
Galron, Ronit;
Carrion, Danaise V.;
Zhang, Weijia;
Sharma, Girdhar G.;
Pandita, Raj K.;
Agarwal, Manjula;
Elkon, Ran;
Katzin, Nirit;
Bar-Am, Irit;
Pandita, Tej K.;
Kucherlapati, Raju;
Rechavi, Gideon;
Shiloh, Yosef;
Barzilai, Ari

Publication type:

Article

Functional SNPs in the distal promoter of the ST2 gene are associated with atopic dermatitis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2919, doi. 10.1093/hmg/ddi323

By:

Shimizu, Makiko;
Matsuda, Akira;
Yanagisawa, Ken;
Hirota, Tomomitsu;
Akahoshi, Mitsuteru;
Inomata, Naoko;
Ebe, Kouji;
Tanaka, Keiko;
Sugiura, Hisashi;
Nakashima, Kazuko;
Tamari, Mayumi;
Takahashi, Naomi;
Obara, Kazuhiko;
Enomoto, Tadao;
Okayama, Yoshimichi;
Gao, Pei-Song;
Huang, Shau-Ku;
Tominaga, Shin-ichi;
Ikezawa, Zenro;
Shirakawa, Taro

Publication type:

Article

Differential expression of sex-linked and autosomal germ-cell-specific genes during spermatogenesis in the mouse.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2911, doi. 10.1093/hmg/ddi322

By:

Wang, P. Jeremy;
Page, David C.;
McCarrey, John R.

Publication type:

Article

Ataxin-2 and huntingtin interact with endophilin-A complexes to function in plastin-associated pathways.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2893, doi. 10.1093/hmg/ddi321

By:

Ralser, Markus;
Nonhoff, Ute;
Albrecht, Mario;
Lengauer, Thomas;
Wanker, Erich E.;
Lehrach, Hans;
Krobitsch, Sylvia

Publication type:

Article

The soluble epoxide hydrolase gene harbors sequence variation associated with susceptibility to and protection from incident ischemic stroke.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2829, doi. 10.1093/hmg/ddi315

By:

Fornage, Myriam;
Lee, Craig R.;
Doris, Peter A.;
Bray, Molly S.;
Heiss, Gerardo;
Zeldin, Darryl C.;
Boerwinkle, Eric

Publication type:

Article

HD CAG repeat implicates a dominant property of huntingtin in mitochondrial energy metabolism.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2871, doi. 10.1093/hmg/ddi319

By:

Seong, Ihn Sik;
Ivanova, Elena;
Lee, Jong-Min;
Choo, Yeun Su;
Fossale, Elisa;
Anderson, MaryAnne;
Gusella, James F.;
Laramie, Jason M.;
Myers, Richard H.;
Lesort, Mathieu;
MacDonald, Marcy E.

Publication type:

Article

The 'involution' of mannose-binding lectin.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2859, doi. 10.1093/hmg/ddi318

By:

Seyfarth, Jeanette;
Garred, Peter;
Madsen, Hans O.

Publication type:

Article

Pas1, a G<sub>1</sub> cyclin, regulates amino acid uptake and rescues a delay in G<sub>1</sub> arrest in Tsc1 and Tsc2 mutants in Schizosaccharomyces pombe.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2851, doi. 10.1093/hmg/ddi317

By:

van Slegtenhorst, Marjon;
Mustafa, Aladdin;
Henske, Elizabeth Petri

Publication type:

Article

A-type lamins are essential for TGF-β1 induced PP2A to dephosphorylate transcription factors.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2839, doi. 10.1093/hmg/ddi316

By:

Van Berlo, J.H.;
Voncken, J.W.;
Kubben, N.;
Broers, J.L.V.;
Duisters, R.;
van Leeuwen, R.E.W.;
Crijns, H.J.G.M.;
Ramaekers, F.C.S.;
Hutchison, C.J.;
Pinto, Y.M.

Publication type:

Article

FcγRIIB Ile232Thr transmembrane polymorphism associated with human systemic lupus erythematosus decreases affinity to lipid rafts and attenuates inhibitory effects on B cell receptor signaling.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2881, doi. 10.1093/hmg/ddi320

By:

Kono, Hajime;
Kyogoku, Chieko;
Suzuki, Takeshi;
Tsuchiya, Naoyuki;
Honda, Hiroaki;
Yamamoto, Kazuhiko;
Tokunaga, Katsushi;
Honda, Zen-Ichiro

Publication type:

Article

Engineering translocations with delayed replication: evidence for cis control of chromosome replication timing.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2813, doi. 10.1093/hmg/ddi314

By:

Breger, Kevin S.;
Smith, Leslie;
Thayer, Mathew J.

Publication type:

Article

Endoplasmic reticulum stress compromises the ubiquitin–proteasome system.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2787

By:

Menéndez-Benito, Victoria;
Verhoef, Lisette G.G.C.;
Masucci, Maria G.;
Dantuma, Nico P.

Publication type:

Article

Coding SNP in tenascin-C Fn-III-D domain associates with adult asthma.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2779, doi. 10.1093/hmg/ddi311

By:

Matsuda, Akira;
Hirota, Tomomitsu;
Akahoshi, Mitsuteru;
Shimizu, Makiko;
Tamari, Mayumi;
Miyatake, Akihiko;
Takahashi, Atsushi;
Nakashima, Kazuko;
Takahashi, Naomi;
Obara, Kazuhiko;
Yuyama, Noriko;
Doi, Satoru;
Kamogawa, Yumiko;
Enomoto, Tadao;
Ohshima, Koichi;
Tsunoda, Tatsuhiko;
Miyatake, Shoichiro;
Fujita, Kimie;
Kusakabe, Moriaki;
Izuhara, Kenji

Publication type:

Article

ABCA4 mutations causing mislocalization are found frequently in patients with severe retinal dystrophies.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2769, doi. 10.1093/hmg/ddi310

By:

Wiszniewski, Wojciech;
Zaremba, Charles M.;
Yatsenko, Alexander N.;
Jamrich, Milan;
Wensel, Theodore G.;
Lewis, Richard Alan;
Lupski, James R.

Publication type:

Article

Mdm muscular dystrophy: interactions with calpain 3 and a novel functional role for titin's N2A domain.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 19, p. 2801, doi. 10.1093/hmg/ddi313

By:

Huebsch, Kimberly A.;
Kudryashova, Elena;
Wooley, Christine M.;
Sher, Roger B.;
Seburn, Kevin L.;
Spencer, Melissa J.;
Cox, Gregory A.

Publication type:

Article