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

Results: 22

Histone methylation is mechanistically linked to DNA methylation at imprinting control regions in mammals.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3375, doi. 10.1093/hmg/ddp277

By:

Henckel, Amandine;
Nakabayashi, Kazuhiko;
Sanz, Lionel A.;
Feil, Robert;
Hata, Kenichiro;
Arnaud, Philippe

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 18, p. NP, doi. 10.1093/hmg/ddp351
Publication type:: Article

Common variants in KCNQ1 are associated with type 2 diabetes and impaired fasting glucose in a Chinese Han population.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3508, doi. 10.1093/hmg/ddp294

By:

Qi, Qibin;
Li, Huaixing;
Loos, Ruth J.F.;
Liu, Chen;
Wu, Ying;
Hu, Frank B.;
Wu, Hongyu;
Lu, Ling;
Yu, Zhijie;
Lin, Xu

Publication type:

Article

Contiguous gene deletion of ELOVL7, ERCC8 and NDUFAF2 in a patient with a fatal multisystem disorder.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3365, doi. 10.1093/hmg/ddp276

By:

Janssen, Rolf J.R.J.;
Distelmaier, Felix;
Smeets, Roel;
Wijnhoven, Tessa;
Østergaard, Elsebet;
Jaspers, Nicolaas G.J.;
Raams, Anja;
Kemp, Stephan;
Rodenburg, Richard J.T.;
Willems, Peter H.M.G.;
van den Heuvel, Lambert P.W.J.;
Smeitink, Jan A.M.;
Nijtmans, Leo G.J.

Publication type:

Article

Loss of positive allosteric interactions between neuronal nitric oxide synthase and phosphofructokinase contributes to defects in glycolysis and increased fatigability in muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3439, doi. 10.1093/hmg/ddp288

By:

Wehling-Henricks, Michelle;
Oltmann, Meredith;
Rinaldi, Chiara;
Myung, Kyu H.;
Tidball, James G.

Publication type:

Article

The disease-protective complement factor H allotypic variant Ile62 shows increased binding affinity for C3b and enhanced cofactor activity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3452, doi. 10.1093/hmg/ddp289

By:

Tortajada, Agustín;
Montes, Tamara;
Martı́nez-Barricarte, Rubén;
Morgan, B. Paul;
Harris, Claire L.;
de Córdoba, Santiago Rodríguez

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 18, p. NP, doi. 10.1093/hmg/ddp348
Publication type:: Article

Common body mass index-associated variants confer risk of extreme obesity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3502

By:

Cotsapas, Chris;
Speliotes, Elizabeth K.;
Hatoum, Ida J.;
Greenawalt, Danielle M.;
Dobrin, Radu;
Lum, Pek Y.;
Suver, Christine;
Chudin, Eugene;
Kemp, Daniel;
Reitman, Marc;
Voight, Benjamin F.;
Neale, Benjamin M.;
Schadt, Eric E.;
Hirschhorn, Joel N.;
Kaplan, Lee M.;
Daly, Mark J.

Publication type:

Article

Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3407, doi. 10.1093/hmg/ddp281

By:

Malena, Adriana;
Loro, Emanuele;
Di Re, Miriam;
Holt, Ian J.;
Vergani, Lodovica

Publication type:

Article

Direct and indirect roles of RECQL4 in modulating base excision repair capacity.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3470, doi. 10.1093/hmg/ddp291

By:

Schurman, Shepherd H.;
Hedayati, Mohammad;
Wang, ZhengMing;
Singh, Dharmendra K.;
Speina, Elzbieta;
Zhang, Yongqing;
Becker, Kevin;
Macris, Margaret;
Sung, Patrick;
Wilson, David M.;
Croteau, Deborah L.;
Bohr, Vilhelm A.

Publication type:

Article

Association of variants in the PCSK1 gene with obesity in the EPIC-Norfolk study.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3496, doi. 10.1093/hmg/ddp280

By:

Kilpeläinen, Tuomas O.;
Bingham, Sheila A.;
Khaw, Kay-Tee;
Wareham, Nicholas J.;
Loos, Ruth J.F.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 18, p. NP, doi. 10.1093/hmg/ddp350
Publication type:: Article

Impaired DNA replication prompts deletions within palindromic sequences, but does not induce translocations in human cells.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3397, doi. 10.1093/hmg/ddp279

By:

Kurahashi, Hiroki;
Inagaki, Hidehito;
Kato, Takema;
Hosoba, Eriko;
Kogo, Hiroshi;
Ohye, Tamae;
Tsutsumi, Makiko;
Bolor, Hasbaira;
Tong, Maoqing;
Emanuel, Beverly S.

Publication type:

Article

Functional role for senataxin, defective in ataxia oculomotor apraxia type 2, in transcriptional regulation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3384, doi. 10.1093/hmg/ddp278

By:

Suraweera, Amila;
Lim, YiChieh;
Woods, Rick;
Birrell, Geoff W.;
Nasim, Talat;
Becherel, Olivier J.;
Lavin, Martin F.

Publication type:

Article

Mutation of SYNE-1, encoding an essential component of the nuclear lamina, is responsible for autosomal recessive arthrogryposis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3462, doi. 10.1093/hmg/ddp290

By:

Attali, Ruben;
Warwar, Nasim;
Israel, Ariel;
Gurt, Irina;
McNally, Elizabeth;
Puckelwartz, Megan;
Glick, Benjamin;
Nevo, Yoram;
Ben-Neriah, Ziva;
Melki, Judith

Publication type:

Article

Truncation and pathogenic mutations facilitate the formation of intracellular aggregates of TDP-43.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3353, doi. 10.1093/hmg/ddp275

By:

Nonaka, Takashi;
Kametani, Fuyuki;
Arai, Tetsuaki;
Akiyama, Haruhiko;
Hasegawa, Masato

Publication type:

Article

Fancm-deficient mice reveal unique features of Fanconi anemia complementation group M.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3484, doi. 10.1093/hmg/ddp297

By:

Bakker, Sietske T.;
van de Vrugt, Henri J.;
Rooimans, Martin A.;
Oostra, Anneke B.;
Steltenpool, Jurgen;
Delzenne-Goette, Elly;
van der Wal, Anja;
van der Valk, Martin;
Joenje, Hans;
te Riele, Hein;
de Winter, Johan P.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 18, p. NP, doi. 10.1093/hmg/ddp349
Publication type:: Article

A genome-wide association study of northwestern Europeans involves the C-type natriuretic peptide signaling pathway in the etiology of human height variation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3516, doi. 10.1093/hmg/ddp296

By:

Estrada, Karol;
Krawczak, Michael;
Schreiber, Stefan;
van Duijn, Kate;
Stolk, Lisette;
van Meurs, Joyce B.J.;
Liu, Fan;
Penninx, Brenda W.J.H.;
Smit, Jan H.;
Vogelzangs, Nicole;
Hottenga, Jouke Jan;
Willemsen, Gonneke;
de Geus, Eco J.C.;
Lorentzon, Mattias;
von Eller-Eberstein, Huberta;
Lips, Paul;
Schoor, Natascha;
Pop, Victor;
de Keijzer, Jules;
Hofman, Albert

Publication type:

Article

Harnessing the information contained within genome-wide association studies to improve individual prediction of complex disease risk.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3525, doi. 10.1093/hmg/ddp295

By:

Evans, David M.;
Visscher, Peter M.;
Wray, Naomi R.

Publication type:

Article

Loss of Bloom syndrome protein destabilizes human gene cluster architecture.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3417, doi. 10.1093/hmg/ddp282

By:

Killen, Michael W.;
Stults, Dawn M.;
Adachi, Noritaka;
Hanakahi, Les;
Pierce, Andrew J.

Publication type:

Article

A cell-autonomous role for WT1 in regulating Sry in vivo.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 18, p. 3429, doi. 10.1093/hmg/ddp283

By:

Bradford, Stephen T.;
Wilhelm, Dagmar;
Bandiera, Roberto;
Vidal, Valerie;
Schedl, Andreas;
Koopman, Peter

Publication type:

Article