Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 12

Results: 22

Zebrafish models of collagen VI-related myopathies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2433, doi. 10.1093/hmg/ddq126

By:

Telfer, W.R.;
Busta, A.S.;
Bonnemann, C.G.;
Feldman, E.L.;
Dowling, J.J.

Publication type:

Article

In silico replication of the genome-wide association results of the Type 1 Diabetes Genetics Consortium.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2534, doi. 10.1093/hmg/ddq133

By:

Qu, Hui-Qi;
Bradfield, Jonathan P.;
Li, Quan;
Kim, Cecilia;
Frackelton, Edward;
Grant, Struan F.A.;
Hakonarson, Hakon;
Polychronakos, Constantin

Publication type:

Article

Parkinson disease protein DJ-1 converts from a zymogen to a protease by carboxyl-terminal cleavage.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2395, doi. 10.1093/hmg/ddq113

By:

Chen, Jue;
Li, Lian;
Chin, Lih-Shen

Publication type:

Article

Inhibiting the ubiquitin–proteasome system leads to preferential accumulation of toxic N-terminal mutant huntingtin fragments.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2445, doi. 10.1093/hmg/ddq127

By:

Li, Xiang;
Wang, Chuan-En;
Huang, Shanshan;
Xu, Xingshun;
Li, Xiao-Jiang;
Li, He;
Li, Shihua

Publication type:

Article

Transcriptome analysis and molecular signature of human retinal pigment epithelium.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2468, doi. 10.1093/hmg/ddq129

By:

Strunnikova, N.V.;
Maminishkis, A.;
Barb, J.J.;
Wang, F.;
Zhi, C.;
Sergeev, Y.;
Chen, W.;
Edwards, A.O.;
Stambolian, D.;
Abecasis, G.;
Swaroop, A.;
Munson, P.J.;
Miller, S.S.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 12, p. NP, doi. 10.1093/hmg/ddq188
Publication type:: Article

The Nance–Horan syndrome protein encodes a functional WAVE homology domain (WHD) and is important for co-ordinating actin remodelling and maintaining cell morphology.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2421, doi. 10.1093/hmg/ddq125

By:

Brooks, Simon P.;
Coccia, Margherita;
Tang, Hao R.;
Kanuga, Naheed;
Machesky, Laura M.;
Bailly, Maryse;
Cheetham, Michael E.;
Hardcastle, Alison J.

Publication type:

Article

SOX10 structure–function analysis in the chicken neural tube reveals important insights into its role in human neurocristopathies.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2409, doi. 10.1093/hmg/ddq124

By:

Cossais, François;
Wahlbuhl, Mandy;
Kriesch, Jana;
Wegner, Michael

Publication type:

Article

Mutations in MUSK causing congenital myasthenic syndrome impair MuSK–Dok-7 interaction.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2370, doi. 10.1093/hmg/ddq110

By:

Maselli, Ricardo A.;
Arredondo, Juan;
Cagney, Órla;
Ng, Jarae J.;
Anderson, Jennifer A.;
Williams, Colette;
Gerke, Bae J.;
Soliven, Betty;
Wollmann, Robert L.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 12, p. NP, doi. 10.1093/hmg/ddq187
Publication type:: Article

Positive selection drives population differentiation in the skeletal genes in modern humans.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2341, doi. 10.1093/hmg/ddq107

By:

Wu, Dong-Dong;
Zhang, Ya-Ping

Publication type:

Article

ELF5-enforced transcriptional networks define an epigenetically regulated trophoblast stem cell compartment in the human placenta.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2456, doi. 10.1093/hmg/ddq128

By:

Hemberger, Myriam;
Udayashankar, Ramya;
Tesar, Paul;
Moore, Harry;
Burton, Graham J.

Publication type:

Article

Silencing ataxin-3 mitigates degeneration in a rat model of Machado–Joseph disease: no role for wild-type ataxin-3?

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2380, doi. 10.1093/hmg/ddq111

By:

Alves, Sandro;
Nascimento-Ferreira, Isabel;
Dufour, Noëlle;
Hassig, Raymonde;
Auregan, Gwennaëlle;
Nóbrega, Clévio;
Brouillet, Emmanuel;
Hantraye, Philippe;
Pedroso de Lima, Maria C.;
Déglon, Nicole;
de Almeida, Luís Pereira

Publication type:

Article

A model organism approach: defining the role of Neph proteins as regulators of neuron and kidney morphogenesis.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2347, doi. 10.1093/hmg/ddq108

By:

Neumann-Haefelin, Elke;
Kramer-Zucker, Albrecht;
Slanchev, Krasimir;
Hartleben, Björn;
Noutsou, Foteini;
Martin, Katrin;
Wanner, Nicola;
Ritter, Alexander;
Gödel, Markus;
Pagel, Philip;
Fu, Xiao;
Müller, Alexandra;
Baumeister, Ralf;
Walz, Gerd;
Huber, Tobias B.

Publication type:

Article

The DISC1 Ser704Cys substitution affects centrosomal localization of its binding partner PCM1 in glia in human brain.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2487, doi. 10.1093/hmg/ddq130

By:

Eastwood, Sharon L.;
Walker, Mary;
Hyde, Thomas M.;
Kleinman, Joel E.;
Harrison, Paul J.

Publication type:

Article

Fine scale mapping of the breast cancer 16q12 locus.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2507, doi. 10.1093/hmg/ddq122

By:

Udler, Miriam S.;
Ahmed, Shahana;
Healey, Catherine S.;
Meyer, Kerstin;
Struewing, Jeffrey;
Maranian, Melanie;
Kwon, Erika M.;
Zhang, Jinghui;
Tyrer, Jonathan;
Karlins, Eric;
Platte, Radka;
Kalmyrzaev, Bolot;
Dicks, Ed;
Field, Helen;
Maia, Ana-Teresa;
Prathalingam, Radhika;
Teschendorff, Andrew;
McArthur, Stewart;
Doody, David R.;
Luben, Robert

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 12, p. NP, doi. 10.1093/hmg/ddq186
Publication type:: Article

A functional variant in the 3′-UTR of angiopoietin-1 might reduce stroke risk by interfering with the binding efficiency of microRNA 211.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2524, doi. 10.1093/hmg/ddq131

By:

Chen, Jingzhou;
Yang, Tao;
Yu, Hui;
Sun, Kai;
Shi, Yi;
Song, Weihua;
Bai, Yongyi;
Wang, Xiaojian;
Lou, Kejia;
Song, Yan;
Zhang, Yinhui;
Hui, Rutai

Publication type:

Article

A systematic gene-based screen of chr4q22–q32 identifies association of a novel susceptibility gene, DKK2, with the quantitative trait of alcohol dependence symptom counts.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2497, doi. 10.1093/hmg/ddq112

By:

Kalsi, Gursharan;
Kuo, Po-Hsiu;
Aliev, Fazil;
Alexander, Jeffry;
McMichael, Omari;
Patterson, Diana G.;
Walsh, Dermot;
Zhao, Zhongming;
Schuckit, Marc;
Nurnberger, John;
Edenberg, Howard;
Kramer, John;
Vladimirov, Vladimir;
Prescott, Carol A.;
Dick, Danielle M.;
Kendler, Kenneth S.;
Riley, Brien P.

Publication type:

Article

A novel requirement in mammalian spermatid differentiation for the DAZ-family protein Boule.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2360, doi. 10.1093/hmg/ddq109

By:

VanGompel, Michael J.W.;
Xu, Eugene Yujun

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 12, p. NP, doi. 10.1093/hmg/ddq185
Publication type:: Article

The FOXE1 locus is a major genetic determinant for radiation-related thyroid carcinoma in Chernobyl.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 12, p. 2516, doi. 10.1093/hmg/ddq123

By:

Takahashi, Meiko;
Saenko, Vladimir A.;
Rogounovitch, Tatiana I.;
Kawaguchi, Takahisa;
Drozd, Valentina M.;
Takigawa-Imamura, Hisako;
Akulevich, Natallia M.;
Ratanajaraya, Chanavee;
Mitsutake, Norisato;
Takamura, Noboru;
Danilova, Larisa I.;
Lushchik, Maxim L.;
Demidchik, Yuri E.;
Heath, Simon;
Yamada, Ryo;
Lathrop, Mark;
Matsuda, Fumihiko;
Yamashita, Shunichi

Publication type:

Article