Works matching IS 09646906 AND DT 2011 AND VI 20 AND IP 18

Results: 22

APC mutations in colorectal tumours from FAP patients are selected for CtBP-mediated oligomerization of truncated APC.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3554, doi. 10.1093/hmg/ddr273

By:

Schneikert, Jean;
Brauburger, Katharina;
Behrens, Jürgen

Publication type:

Article

Genome-wide association study identifies novel alleles associated with risk of cutaneous basal cell carcinoma and squamous cell carcinoma.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3718, doi. 10.1093/hmg/ddr287

By:

Nan, Hongmei;
Xu, Mousheng;
Kraft, Peter;
Qureshi, Abrar A.;
Chen, Constance;
Guo, Qun;
Hu, Frank B.;
Curhan, Gary;
Amos, Christopher I.;
Wang, Li-E.;
Lee, Jeffrey E.;
Wei, Qingyi;
Hunter, David J.;
Han, Jiali

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 18, p. NP, doi. 10.1093/hmg/ddr323
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 18, p. NP, doi. 10.1093/hmg/ddr321
Publication type:: Article

Modeling neuronal defects associated with a lysosomal disorder using patient-derived induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3653, doi. 10.1093/hmg/ddr285

By:

Lemonnier, Thomas;
Blanchard, Stéphane;
Toli, Diana;
Roy, Elise;
Bigou, Stéphanie;
Froissart, Roseline;
Rouvet, Isabelle;
Vitry, Sandrine;
Heard, Jean Michel;
Bohl, Delphine

Publication type:

Article

Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3642, doi. 10.1093/hmg/ddr284

By:

Mitne-Neto, Miguel;
Machado-Costa, Marcela;
Marchetto, Maria C.N.;
Bengtson, Mario H.;
Joazeiro, Claudio A.;
Tsuda, Hiroshi;
Bellen, Hugo J.;
Silva, Helga C.A.;
Oliveira, Acary S.B.;
Lazar, Monize;
Muotri, Alysson R.;
Zatz, Mayana

Publication type:

Article

Common variants near FRK/COL10A1 and VEGFA are associated with advanced age-related macular degeneration.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3699, doi. 10.1093/hmg/ddr270

By:

Yu, Yi;
Bhangale, Tushar R.;
Fagerness, Jesen;
Ripke, Stephan;
Thorleifsson, Gudmar;
Tan, Perciliz L.;
Souied, Eric H.;
Richardson, Andrea J.;
Merriam, Joanna E.;
Buitendijk, Gabriëlle H.S.;
Reynolds, Robyn;
Raychaudhuri, Soumya;
Chin, Kimberly A.;
Sobrin, Lucia;
Evangelou, Evangelos;
Lee, Phil H.;
Lee, Aaron Y.;
Leveziel, Nicolas;
Zack, Donald J.;
Campochiaro, Betsy

Publication type:

Article

An absence of both lamin B1 and lamin B2 in keratinocytes has no effect on cell proliferation or the development of skin and hair.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3537, doi. 10.1093/hmg/ddr266

By:

Yang, Shao H.;
Chang, Sandy Y.;
Yin, Liya;
Tu, Yiping;
Hu, Yan;
Yoshinaga, Yuko;
de Jong, Pieter J.;
Fong, Loren G.;
Young, Stephen G.

Publication type:

Article

Minocycline inhibits cell death and decreases mutant Huntingtin aggregation by targeting Apaf-1.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3545, doi. 10.1093/hmg/ddr271

By:

Sancho, Mónica;
Herrera, Andrés E.;
Gortat, Anna;
Carbajo, Rodrigo J.;
Pineda-Lucena, Antonio;
Orzáez, Mar;
Pérez-Payá, Enrique

Publication type:

Article

Ccdc66 null mutation causes retinal degeneration and dysfunction.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3620, doi. 10.1093/hmg/ddr282

By:

Gerding, Wanda M.;
Schreiber, Sabrina;
Schulte-Middelmann, Tobias;
de Castro Marques, Andreia;
Atorf, Jenny;
Akkad, Denis A.;
Dekomien, Gabriele;
Kremers, Jan;
Dermietzel, Rolf;
Gal, Andreas;
Rülicke, Thomas;
Ibrahim, Saleh;
Epplen, Jörg T.;
Petrasch-Parwez, Elisabeth

Publication type:

Article

Mutant Atp13a2 proteins involved in parkinsonism are degraded by ER-associated degradation and sensitize cells to ER-stress induced cell death.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3565, doi. 10.1093/hmg/ddr274

By:

Ugolino, Janet;
Fang, Shengyun;
Kubisch, Christian;
Monteiro, Mervyn J.

Publication type:

Article

Global map of physical interactions among differentially expressed genes in multiple sclerosis relapses and remissions.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3606, doi. 10.1093/hmg/ddr281

By:

Tuller, Tamir;
Atar, Shimshi;
Ruppin, Eytan;
Gurevich, Michael;
Achiron, Anat

Publication type:

Article

The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3592, doi. 10.1093/hmg/ddr280

By:

Coene, Karlien L.M.;
Mans, Dorus A.;
Boldt, Karsten;
Gloeckner, C. Johannes;
van Reeuwijk, Jeroen;
Bolat, Emine;
Roosing, Susanne;
Letteboer, Stef J.F.;
Peters, Theo A.;
Cremers, Frans P.M.;
Ueffing, Marius;
Roepman, Ronald

Publication type:

Article

Association of variants in FRAP1 and PDGFRA with corneal curvature in Asian populations from Singapore.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3693, doi. 10.1093/hmg/ddr269

By:

Han, Siyu;
Chen, Peng;
Fan, Qiao;
Khor, Chiea-Chuen;
Sim, Xueling;
Tay, Wan-Ting;
Ong, Rick Twee-Hee;
Suo, Chen;
Goh, Liang-Kee;
Lavanya, Raghavan;
Zheng, Yingfeng;
Wu, Renyi;
Seielstad, Mark;
Vithana, Eranga;
Liu, Jianjun;
Chia, Kee-Seng;
Lee, Jeannette Jen-Mai;
Tai, E-Shyong;
Wong, Tien-Yin;
Aung, Tin

Publication type:

Article

Temporal requirement for high SMN expression in SMA mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3578

By:

Le, Thanh T.;
McGovern, Vicki L.;
Alwine, Isaac E.;
Wang, Xueyong;
Massoni-Laporte, Aurelie;
Rich, Mark M.;
Burghes, Arthur H.M.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 18, p. NP, doi. 10.1093/hmg/ddr319
Publication type:: Article

Identification of a functional rare variant in autism using genome-wide screen for monoallelic expression.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3632, doi. 10.1093/hmg/ddr283

By:

Ben-David, Eyal;
Granot-Hershkovitz, Einat;
Monderer-Rothkoff, Galya;
Lerer, Elad;
Levi, Shlomit;
Yaari, Maya;
Ebstein, Richard P.;
Yirmiya, Nurit;
Shifman, Sagiv

Publication type:

Article

Folic acid supplementation can adversely affect murine neural tube closure and embryonic survival.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3678, doi. 10.1093/hmg/ddr289

By:

Marean, Amber;
Graf, Amanda;
Zhang, Ying;
Niswander, Lee

Publication type:

Article

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3667, doi. 10.1093/hmg/ddr288

By:

Kwon, Deborah Y.;
Motley, William W.;
Fischbeck, Kenneth H.;
Burnett, Barrington G.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2011, v. 20, n. 18, p. NP, doi. 10.1093/hmg/ddr317
Publication type:: Article

Genome-wide association study identifies two loci strongly affecting transferrin glycosylation.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3710, doi. 10.1093/hmg/ddr272

By:

Kutalik, Zoltán;
Benyamin, Beben;
Bergmann, Sven;
Mooser, Vincent;
Waeber, Gérard;
Montgomery, Grant W.;
Martin, Nicholas G.;
Madden, Pamela A.F.;
Heath, Andrew C.;
Beckmann, Jacques S.;
Vollenweider, Peter;
Marques-Vidal, Pedro;
Whitfield, John B.

Publication type:

Article

A functional variant in ZNF512B is associated with susceptibility to amyotrophic lateral sclerosis in Japanese.

Published in:

Human Molecular Genetics, 2011, v. 20, n. 18, p. 3684, doi. 10.1093/hmg/ddr268

By:

Iida, Aritoshi;
Takahashi, Atsushi;
Kubo, Michiaki;
Saito, Susumu;
Hosono, Naoya;
Ohnishi, Yozo;
Kiyotani, Kazuma;
Mushiroda, Taisei;
Nakajima, Masahiro;
Ozaki, Kouichi;
Tanaka, Toshihiro;
Tsunoda, Tatsuhiko;
Oshima, Shuichi;
Sano, Motoki;
Kamei, Tetsumasa;
Tokuda, Torao;
Aoki, Masashi;
Hasegawa, Kazuko;
Mizoguchi, Koichi;
Morita, Mitsuya

Publication type:

Article