Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 9

Results: 17

Impaired helix 12 dynamics due to proline 892 substitutions in the androgen receptor are associated with complete androgen insensitivity.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1561, doi. 10.1093/hmg/ddl075

By:

Elhaji, Youssef A.;
Stoica, Ileana;
Dennis, Sheldon;
Purisima, Enrico O.;
Lumbroso, Rose;
Beitel, Lenore K.;
Trifiro, Mark A.

Publication type:

Article

The nuclear MicroSpherule protein 58 is a novel RNA-binding protein that interacts with fragile X mental retardation protein in polyribosomal mRNPs from neurons.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1525, doi. 10.1093/hmg/ddl074

By:

Davidovic, Laetitia;
Bechara, Elias;
Gravel, Maud;
Jaglin, Xavier H.;
Tremblay, Sandra;
Sik, Attila;
Bardoni, Barbara;
Khandjian, Edouard W.

Publication type:

Article

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1559, doi. 10.1093/hmg/ddl079

By:

Thompson, Debra A.;
Janecke, Andreas R.;
Lange, Jessica;
Feathers, Kecia L.;
Hübner, Christian A.;
McHenry, Christina L.;
Stockton, David W.;
Rammesmayer, Gabriele;
Lupski, James R.;
Antinolo, Guillermo;
Ayuso, Carmen;
Baiget, Montserrat;
Gouras, Peter;
Heckenlively, John R.;
den Hollander, Anneke;
Jacobson, Samuel G.;
Lewis, Richard A.;
Sieving, Paul A.;
Wissinger, Bernd;
Yzer, Suzanne

Publication type:

Article

Effect of mutations in the PCSK9 gene on the cell surface LDL receptors.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1551, doi. 10.1093/hmg/ddl077

By:

Cameron, Jamie;
Holla, Øystein L.;
Ranheim, Trine;
Kulseth, Mari Ann;
Berge, Knut Erik;
Leren, Trond P.

Publication type:

Article

Association of alcohol dehydrogenase genes with alcohol dependence: a comprehensive analysis.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1539, doi. 10.1093/hmg/ddl073

By:

Edenberg, Howard J.;
Xuei, Xiaoling;
Chen, Hui-Ju;
Tian, Huijun;
Wetherill, Leah Flury;
Dick, Danielle M.;
Almasy, Laura;
Bierut, Laura;
Bucholz, Kathleen K.;
Goate, Alison;
Hesselbrock, Victor;
Kuperman, Samuel;
Nurnberger, John;
Porjesz, Bernice;
Rice, John;
Schuckit, Marc;
Tischfield, Jay;
Begleiter, Henri;
Foroud, Tatiana

Publication type:

Article

Body weight is modulated by levels of full-length Huntingtin.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1513, doi. 10.1093/hmg/ddl072

By:

Van Raamsdonk, Jeremy M.;
Gibson, William T.;
Pearson, Jacqueline;
Murphy, Zoe;
Lu, Ge;
Leavitt, Blair R.;
Hayden, Michael R.

Publication type:

Article

Context-specific functional effects of IFNGR1 promoter polymorphism.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1475, doi. 10.1093/hmg/ddl071

By:

Koch, Oliver;
Kwiatkowski, Dominic P.;
Udalova, Irina A.

Publication type:

Article

Identification of an N-terminal glycogen synthase kinase 3 phosphorylation site which regulates the functional localization of polycystin-2 in vivo and in vitro.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1465, doi. 10.1093/hmg/ddl070

By:

Streets, Andrew J.;
Moon, David J.;
Kane, Michelle E.;
Obara, Tomoko;
Ong, Albert C.M.

Publication type:

Article

Gene targeting of GAN in mouse causes a toxic accumulation of microtubule-associated protein 8 and impaired retrograde axonal transport.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1451, doi. 10.1093/hmg/ddl069

By:

Ding, Jianqing;
Allen, Elizabeth;
Wang, Wei;
Valle, Angela;
Wu, Chengbiao;
Nardine, Timothy;
Cui, Bianxiao;
Yi, Jing;
Taylor, Anne;
Jeon, Noo Li;
Chu, Steven;
So, Yuen;
Vogel, Hannes;
Tolwani, Ravi;
Mobley, William;
Yang, Yanmin

Publication type:

Article

A profile of alternative RNA splicing and transcript variation of CACNA1H, a human T-channel gene candidate for idiopathic generalized epilepsies.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1497, doi. 10.1093/hmg/ddl068

By:

Zhong, Xiaoli;
Liu, Jinrong R.;
Kyle, John W.;
Hanck, Dorothy A.;
Agnew, William S.

Publication type:

Article

Molecular pathways that influence human tau-induced pathology in Caenorhabditis elegans.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1483, doi. 10.1093/hmg/ddl067

By:

Kraemer, Brian C.;
Burgess, Jack K.;
Chen, Jin H.;
Thomas, James H.;
Schellenberg, Gerard D.

Publication type:

Article

Mitochondria are a direct site of Aβ accumulation in Alzheimer's disease neurons: implications for free radical generation and oxidative damage in disease progression.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1437, doi. 10.1093/hmg/ddl066

By:

Manczak, Maria;
Anekonda, Thimmappa S.;
Henson, Edward;
Park, Byung S.;
Quinn, Joseph;
Reddy, P. Hemachandra

Publication type:

Article

Targeted inhibition of Ca2+/calmodulin signaling exacerbates the dystrophic phenotype in mdx mouse muscle.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1423, doi. 10.1093/hmg/ddl065

By:

Chakkalakal, Joe V.;
Michel, Stephanie A.;
Chin, Eva R.;
Michel, Robin N.;
Jasmin, Bernard J.

Publication type:

Article

Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1413, doi. 10.1093/hmg/ddl064

By:

Williamson, Kathleen A.;
Hever, Ann M.;
Rainger, Joe;
Rogers, R. Curtis;
Magee, Alex;
Fiedler, Zdenek;
Keng, Wee Teik;
Sharkey, Freddie H.;
McGill, Niolette;
Hill, Clare J.;
Schneider, Adele;
Messina, Mario;
Turnpenny, Peter D.;
Fantes, Judy A.;
van Heyningen, Veronica;
FitzPatrick, David R.

Publication type:

Article

Polymorphism in the activity of human crossover hotspots independent of local DNA sequence variation.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1401, doi. 10.1093/hmg/ddl063

By:

Neumann, Rita;
Jeffreys, Alec J.

Publication type:

Article

Branching and nucleokinesis defects in migrating interneurons derived from doublecortin knockout mice.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1387, doi. 10.1093/hmg/ddl062

By:

Kappeler, Caroline;
Saillour, Yoann;
Baudoin, Jean-Pierre;
Tuy, Françoise Phan Dinh;
Alvarez, Chantal;
Houbron, Christophe;
Gaspar, Patricia;
Hamard, Ghislaine;
Chelly, Jamel;
Métin, Christine;
Francis, Fiona

Publication type:

Article

Mutations in DNA methyltransferase DNMT3B in ICF syndrome affect its regulation by DNMT3L.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 9, p. 1375, doi. 10.1093/hmg/ddl059

By:

Xie, Zheng-Hua;
Huang, Yan-Nv;
Chen, Zhao-Xia;
Riggs, Arthur D.;
Ding, Jian-Ping;
Gowher, Humaira;
Jeltsch, Albert;
Sasaki, Hiroyuki;
Hata, Kenichiro;
Xu, Guo-Liang

Publication type:

Article