Works matching IS 09646906 AND DT 2014 AND VI 23 AND IP 17

Results: 27

Multi-ethnic fine-mapping of 14 central adiposity loci.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4738

By:

Liu, Ching-Ti;
Buchkovich, Martin L.;
Winkler, Thomas W.;
Heid, Iris M.;
Borecki, Ingrid B.;
Fox, Caroline S.;
Mohlke, Karen L.;
North, Kari E.;
Adrienne Cupples, L.

Publication type:

Article

Identification of susceptibility loci for colorectal cancer in a genome-wide meta-analysis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4729

By:

Whiffin, Nicola;
Hosking, Fay J.;
Farrington, Susan M.;
Palles, Claire;
Dobbins, Sara E.;
Zgaga, Lina;
Lloyd, Amy;
Kinnersley, Ben;
Gorman, Maggie;
Tenesa, Albert;
Broderick, Peter;
Wang, Yufei;
Barclay, Ella;
Hayward, Caroline;
Martin, Lynn;
Buchanan, Daniel D.;
Win, Aung Ko;
Hopper, John;
Jenkins, Mark;
Lindor, Noralane M.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 17, p. NP, doi. 10.1093/hmg/ddu404
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 17, p. NP, doi. 10.1093/hmg/ddu403
Publication type:: Article

Progressive axonal transport and synaptic protein changes correlate with behavioral and neuropathological abnormalities in the heterozygous Q175 KI mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4510, doi. 10.1093/hmg/ddu166

By:

Smith, Gaynor A.;
Rocha, Emily M.;
McLean, Jesse R.;
Hayes, Melissa A.;
Izen, Sarah C.;
Isacson, Ole;
Hallett, Penelope J.

Publication type:

Article

Defining the therapeutic window in a severe animal model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4559, doi. 10.1093/hmg/ddu169

By:

Robbins, Kate L.;
Glascock, Jacqueline J.;
Osman, Erkan Y.;
Miller, Madeline R.;
Lorson, Christian L.

Publication type:

Article

Developmental transcriptome analysis of human erythropoiesis.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4528, doi. 10.1093/hmg/ddu167

By:

Shi, Lihong;
Lin, Yu-Hsuan;
Sierant, M.C.;
Zhu, Fan;
Cui, Shuaiying;
Guan, Yuanfang;
Sartor, Maureen A.;
Tanabe, Osamu;
Lim, Kim-Chew;
Engel, James Douglas

Publication type:

Article

Overexpression of LARGE suppresses muscle regeneration via down-regulation of insulin-like growth factor 1 and aggravates muscular dystrophy in mice.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4543, doi. 10.1093/hmg/ddu168

By:

Saito, Fumiaki;
Kanagawa, Motoi;
Ikeda, Miki;
Hagiwara, Hiroki;
Masaki, Toshihiro;
Ohkuma, Hidehiko;
Katanosaka, Yuki;
Shimizu, Teruo;
Sonoo, Masahiro;
Toda, Tatsushi;
Matsumura, Kiichiro

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 17, p. NP, doi. 10.1093/hmg/ddu405
Publication type:: Article

Contents Page.

Published in:: Human Molecular Genetics, 2014, v. 23, n. 17, p. NP, doi. 10.1093/hmg/ddu402
Publication type:: Article

TGFBI (βIG-H3) is a diabetes-risk gene based on mouse and human genetic studies.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4597, doi. 10.1093/hmg/ddu173

By:

Han, Bing;
Luo, Hongyu;
Raelson, John;
Huang, Jie;
Li, Yun;
Tremblay, Johanne;
Hu, Bing;
Qi, Shijie;
Wu, Jiangping

Publication type:

Article

Comprehensive functional annotation of 18 missense mutations found in suspected hemochromatosis type 4 patients.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4479, doi. 10.1093/hmg/ddu160

By:

Callebaut, Isabelle;
Joubrel, Rozenn;
Pissard, Serge;
Kannengiesser, Caroline;
Gérolami, Victoria;
Ged, Cécile;
Cadet, Estelle;
Cartault, François;
Ka, Chandran;
Gourlaouen, Isabelle;
Gourhant, Lénaick;
Oudin, Claire;
Goossens, Michel;
Grandchamp, Bernard;
De Verneuil, Hubert;
Rochette, Jacques;
Férec, Claude;
Le Gac, Gérald

Publication type:

Article

Fluoxetine prevents dystrophic changes in a zebrafish model of Duchenne muscular dystrophy.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4651, doi. 10.1093/hmg/ddu185

By:

Waugh, Trent A.;
Horstick, Eric;
Hur, Junguk;
Jackson, Samuel W.;
Davidson, Ann E.;
Li, Xingli;
Dowling, James J.

Publication type:

Article

Reactivation of maternal SNORD116 cluster via SETDB1 knockdown in Prader-Willi syndrome iPSCs.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4674, doi. 10.1093/hmg/ddu187

By:

Cruvinel, Estela;
Budinetz, Tara;
Germain, Noelle;
Chamberlain, Stormy;
Lalande, Marc;
Martins-Taylor, Kristen

Publication type:

Article

Competing targets of microRNA-608 affect anxiety and hypertension.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4569, doi. 10.1093/hmg/ddu170

By:

Hanin, Geula;
Shenhar-Tsarfaty, Shani;
Yayon, Nadav;
Hoe, Yau Yin;
Bennett, Estelle R.;
Sklan, Ella H.;
Rao, Dabeeru. C.;
Rankinen, Tuomo;
Bouchard, Claude;
Geifman-Shochat, Susana;
Shifman, Sagiv;
Greenberg, David S.;
Soreq, Hermona

Publication type:

Article

Parkinson's disease-linked mutations in VPS35 induce dopaminergic neurodegeneration.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4621, doi. 10.1093/hmg/ddu178

By:

Tsika, Elpida;
Glauser, Liliane;
Moser, Roger;
Fiser, Aris;
Daniel, Guillaume;
Sheerin, Una-Marie;
Lees, Andrew;
Troncoso, Juan C.;
Lewis, Patrick A.;
Bandopadhyay, Rina;
Schneider, Bernard L.;
Moore, Darren J.

Publication type:

Article

The novel Parkinson's disease linked mutation G51D attenuates in vitro aggregation and membrane binding of α-synuclein, and enhances its secretion and nuclear localization in cells.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4491, doi. 10.1093/hmg/ddu165

By:

Fares, Mohamed-Bilal;
Ait-Bouziad, Nadine;
Dikiy, Igor;
Mbefo, Martial K.;
Jovičić, Ana;
Kiely, Aoife;
Holton, Janice L.;
Lee, Seung-Jae;
Gitler, Aaron D.;
Eliezer, David;
Lashuel, Hilal A.

Publication type:

Article

Formin 1 and Filamin B physically interact to coordinate chondrocyte proliferation and differentiation in the growth plate.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4663

By:

Hu, Jianjun;
Lu, Jie;
Lian, Gewei;
Ferland, Russell J.;
Dettenhofer, Markus;
Sheen, Volney L.

Publication type:

Article

Genome-wide mapping of IBD segments in an Ashkenazi PD cohort identifies associated haplotypes.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4693, doi. 10.1093/hmg/ddu158

By:

Vacic, Vladimir;
Ozelius, Laurie J.;
Clark, Lorraine N.;
Bar-Shira, Anat;
Gana-Weisz, Mali;
Gurevich, Tanya;
Gusev, Alexander;
Kedmi, Merav;
Kenny, Eimear E.;
Liu, Xinmin;
Mejia-Santana, Helen;
Mirelman, Anat;
Raymond, Deborah;
Saunders-Pullman, Rachel;
Desnick, Robert J.;
Atzmon, Gil;
Burns, Edward R.;
Ostrer, Harry;
Hakonarson, Hakon;
Bergman, Aviv

Publication type:

Article

No large-effect low-frequency coding variation found for myocardial infarction.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4721, doi. 10.1093/hmg/ddu175

By:

Holmen, Oddgeir L.;
Zhang, He;
Zhou, Wei;
Schmidt, Ellen;
Hovelson, Daniel H.;
Langhammer, Arnulf;
Løchen, Maja-Lisa;
Ganesh, Santhi K.;
Mathiesen, Ellisiv B.;
Vatten, Lars;
Platou, Carl;
Wilsgaard, Tom;
Chen, Jin;
Skorpen, Frank;
Dalen, Håvard;
Boehnke, Michael;
Abecasis, Goncalo R.;
Njølstad, Inger;
Hveem, Kristian;
Willer, Cristen J.

Publication type:

Article

Glia are critical for the neuropathology of complex I deficiency in Drosophila.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4686, doi. 10.1093/hmg/ddu188

By:

Hegde, Vijay R.;
Vogel, Rutger;
Feany, Mel B.

Publication type:

Article

The contribution of deleterious germline mutations in BRCA1, BRCA2 and the mismatch repair genes to ovarian cancer in the population.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4703, doi. 10.1093/hmg/ddu172

By:

Song, Honglin;
Cicek, Mine S.;
Dicks, Ed;
Harrington, Patricia;
Ramus, Susan J.;
Cunningham, Julie M.;
Fridley, Brooke L.;
Tyrer, Jonathan P.;
Alsop, Jennifer;
Jimenez-Linan, Mercedes;
Gayther, Simon A.;
Goode, Ellen L.;
Pharoah, Paul D.P.

Publication type:

Article

Identification of a splicing variant that regulates type 2 diabetes risk factor CDKAL1 level by a coding-independent mechanism in human.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4639, doi. 10.1093/hmg/ddu184

By:

Zhou, Bo;
Wei, Fan-Yan;
Kanai, Narumi;
Fujimura, Atsushi;
Kaitsuka, Taku;
Tomizawa, Kazuhito

Publication type:

Article

Prion protein facilitates synaptic vesicle release by enhancing release probability.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4581, doi. 10.1093/hmg/ddu171

By:

Robinson, Susan W.;
Nugent, Marie L.;
Dinsdale, David;
Steinert, Joern R.

Publication type:

Article

Estimation and partitioning of (co)heritability of inflammatory bowel disease from GWAS and immunochip data.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4710

By:

Chen, Guo-Bo;
Lee, Sang Hong;
Brion, Marie-Jo A.;
Montgomery, Grant W.;
Wray, Naomi R.;
Radford-Smith, Graham L.;
Visscher, Peter M.

Publication type:

Article

Dissecting the mechanisms underlying the accumulation of mitochondrial DNA deletions in human skeletal muscle.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4612, doi. 10.1093/hmg/ddu176

By:

Campbell, Georgia;
Krishnan, Kim J.;
Deschauer, Marcus;
Taylor, Robert W.;
Turnbull, Doug M.

Publication type:

Article

Abnormal visual gain control in a Parkinson's disease model.

Published in:

Human Molecular Genetics, 2014, v. 23, n. 17, p. 4465, doi. 10.1093/hmg/ddu159

By:

Afsari, Farinaz;
Christensen, Kenneth V.;
Smith, Garrick Paul;
Hentzer, Morten;
Nippe, Olivia M.;
Elliott, Christopher J. H.;
Wade, Alex R.

Publication type:

Article