Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 4

Results: 21

Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 667, doi. 10.1093/hmg/ddn396

By:

Tuxworth, Richard I.;
Vivancos, Valérie;
O'Hare, Megan B.;
Tear, Guy

Publication type:

Article

Homozygous disruption of PDZD7 by reciprocal translocation in a consanguineous family: a new member of the Usher syndrome protein interactome causing congenital hearing impairment.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 655, doi. 10.1093/hmg/ddn395

By:

Schneider, Eberhard;
Märker, Tina;
Daser, Angelika;
Frey-Mahn, Gabriele;
Beyer, Vera;
Farcas, Ruxandra;
Schneider-Rätzke, Brigitte;
Kohlschmidt, Nicolai;
Grossmann, Bärbel;
Bauss, Katharina;
Napiontek, Ulrike;
Keilmann, Annerose;
Bartsch, Oliver;
Zechner, Ulrich;
Wolfrum, Uwe;
Haaf, Thomas

Publication type:

Article

Altered serotonin receptor expression is associated with depression-related behavior in the R6/1 transgenic mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 753, doi. 10.1093/hmg/ddn385

By:

Pang, Terence Y.C.;
Du, Xin;
Zajac, Michelle S.;
Howard, Monique L.;
Hannan, Anthony J.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp040
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp037
Publication type:: Article

Targeted resequencing of two genes, RAGE and POLL, confirms findings from a genome-wide scan for adaptive evolution and provides evidence for positive selection in additional populations.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 779, doi. 10.1093/hmg/ddn399

By:

Kelley, Joanna L.;
Turkheimer, Kayley;
Haney, Margo;
Swanson, Willie J.

Publication type:

Article

Zebrafish Tsc1 reveals functional interactions between the cilium and the TOR pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 595, doi. 10.1093/hmg/ddn384

By:

DiBella, Linda M.;
Park, Alice;
Sun, Zhaoxia

Publication type:

Article

Residual laminin-binding activity and enhanced dystroglycan glycosylation by LARGE in novel model mice to dystroglycanopathy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 621, doi. 10.1093/hmg/ddn387

By:

Kanagawa, Motoi;
Nishimoto, Akemi;
Chiyonobu, Tomohiro;
Takeda, Satoshi;
Miyagoe-Suzuki, Yuko;
Wang, Fan;
Fujikake, Nobuhiro;
Taniguchi, Mariko;
Lu, Zhongpeng;
Tachikawa, Masaji;
Nagai, Yoshitaka;
Tashiro, Fumi;
Miyazaki, Jun-Ichi;
Tajima, Youichi;
Takeda, Shin'ichi;
Endo, Tamao;
Kobayashi, Kazuhiro;
Campbell, Kevin P.;
Toda, Tatsushi

Publication type:

Article

Positive and negative feedback regulates the transcription factor FOXL2 in response to cell stress: evidence for a regulatory imbalance induced by disease-causing mutations.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 632, doi. 10.1093/hmg/ddn389

By:

Benayoun, Bérénice A.;
Batista, Frank;
Auer, Jana;
Dipietromaria, Aurélie;
L'Hôte, David;
De Baere, Elfride;
Veitia, Reiner A.

Publication type:

Article

GRM7 variants confer susceptibility to age-related hearing impairment.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 785, doi. 10.1093/hmg/ddn402

By:

Friedman, Rick A.;
Van Laer, Lut;
Huentelman, Matthew J.;
Sheth, Sonal S.;
Van Eyken, Els;
Corneveaux, Jason J.;
Tembe, Waibhav D.;
Halperin, Rebecca F.;
Thorburn, Ashley Q.;
Thys, Sofie;
Bonneux, Sarah;
Fransen, Erik;
Huyghe, Jeroen;
Pyykkö, Ilmari;
Cremers, Cor W.R.J.;
Kremer, Hannie;
Dhooge, Ingeborg;
Stephens, Dafydd;
Orzan, Eva;
Pfister, Markus

Publication type:

Article

Unbalanced deoxynucleotide pools cause mitochondrial DNA instability in thymidine phosphorylase-deficient mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 714, doi. 10.1093/hmg/ddn401

By:

López, Luis C.;
Akman, Hasan O.;
García-Cazorla, Ángeles;
Dorado, Beatriz;
Martí, Ramón;
Nishino, Ichizo;
Tadesse, Saba;
Pizzorno, Giuseppe;
Shungu, Dikoma;
Bonilla, Eduardo;
Tanji, Kurenai;
Hirano, Michio

Publication type:

Article

The malin–laforin complex suppresses the cellular toxicity of misfolded proteins by promoting their degradation through the ubiquitin–proteasome system.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 688, doi. 10.1093/hmg/ddn398

By:

Garyali, Punitee;
Siwach, Pratibha;
Singh, Pankaj Kumar;
Puri, Rajat;
Mittal, Shuchi;
Sengupta, Sonali;
Parihar, Rashmi;
Ganesh, Subramaniam

Publication type:

Article

Disruption of nesprin-1 produces an Emery Dreifuss muscular dystrophy-like phenotype in mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 607, doi. 10.1093/hmg/ddn386

By:

Puckelwartz, Megan J.;
Kessler, Eric;
Zhang, Yuan;
Hodzic, Didier;
Randles, K. Natalie;
Morris, Glenn;
Earley, Judy U.;
Hadhazy, Michele;
Holaska, James M.;
Mewborn, Stephanie K.;
Pytel, Peter;
McNally, Elizabeth M.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp038
Publication type:: Article

Pre-B-cell leukemia homeobox 1 (PBX1) shows functional and possible genetic association with bone mineral density variation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 679, doi. 10.1093/hmg/ddn397

By:

Cheung, Ching-Lung;
Chan, Benjamin Y.Y.;
Chan, Vivian;
Ikegawa, Shiro;
Kou, Ikuyo;
Ngai, Heidi;
Smith, David;
Luk, Keith D.K.;
Huang, Qing-Yang;
Mori, Seijiro;
Sham, Pak-Chung;
Kung, Annie W.C.

Publication type:

Article

Differential nuclear scaffold/matrix attachment marks expressed genes†.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 645, doi. 10.1093/hmg/ddn394

By:

Linnemann, Amelia K.;
Platts, Adrian E.;
Krawetz, Stephen A.

Publication type:

Article

Effects of overexpression of Huntingtin proteins on mitochondrial integrity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 737, doi. 10.1093/hmg/ddn404

By:

Wang, Hongmin;
Lim, Precious J.;
Karbowski, Mariusz;
Monteiro, Mervyn J.

Publication type:

Article

Severe neurological phenotypes of Q129 DRPLA transgenic mice serendipitously created by en masse expansion of CAG repeats in Q76 DRPLA mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 723, doi. 10.1093/hmg/ddn403

By:

Sato, Toshiya;
Miura, Masami;
Yamada, Mitsunori;
Yoshida, Takayuki;
Wood, Jonathan D.;
Yazawa, Ikuru;
Masuda, Masao;
Suzuki, Takeo;
Shin, Ryong-Moon;
Yau, Hau-Jie;
Liu, Fu-Chin;
Shimohata, Takayoshi;
Onodera, Osamu;
Ross, Christopher A.;
Katsuki, Motoya;
Takahashi, Hitoshi;
Kano, Masanobu;
Aosaki, Toshihiko;
Tsuji, Shoji

Publication type:

Article

Genome-wide association analysis of susceptibility and clinical phenotype in multiple sclerosis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 767, doi. 10.1093/hmg/ddn388

By:

Baranzini, Sergio E.;
Wang, Joanne;
Gibson, Rachel A.;
Galwey, Nicholas;
Naegelin, Yvonne;
Barkhof, Frederik;
Radue, Ernst-Wilhelm;
Lindberg, Raija L.P.;
Uitdehaag, Bernard M.G.;
Johnson, Michael R.;
Angelakopoulou, Aspasia;
Hall, Leslie;
Richardson, Jill C.;
Prinjha, Rab K.;
Gass, Achim;
Geurts, Jeroen J.G.;
Kragt, Jolijn;
Sombekke, Madeleine;
Vrenken, Hugo;
Qualley, Pamela

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 4, p. NP, doi. 10.1093/hmg/ddp039
Publication type:: Article

Cardiac-specific ablation of Cypher leads to a severe form of dilated cardiomyopathy with premature death.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 4, p. 701, doi. 10.1093/hmg/ddn400

By:

Zheng, Ming;
Cheng, Hongqiang;
Li, Xiaodong;
Zhang, Jianlin;
Cui, Li;
Ouyang, Kunfu;
Han, Liang;
Zhao, Ting;
Gu, Yusu;
Dalton, Nancy D.;
Bang, Marie-Louise;
Peterson, Kirk L.;
Chen, Ju

Publication type:

Article