Works matching IS 09646906 AND DT 2009 AND VI 18 AND IP 13

Results: 22

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 13, p. NP, doi. 10.1093/hmg/ddp224
Publication type:: Article

Involvement of SMARCA2/BRM in the SWI/SNF chromatin-remodeling complex in schizophrenia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2483, doi. 10.1093/hmg/ddp166

By:

Koga, Minori;
Ishiguro, Hiroki;
Yazaki, Saori;
Horiuchi, Yasue;
Arai, Makoto;
Niizato, Kazuhiro;
Iritani, Shuji;
Itokawa, Masanari;
Inada, Toshiya;
Iwata, Nakao;
Ozaki, Norio;
Ujike, Hiroshi;
Kunugi, Hiroshi;
Sasaki, Tsukasa;
Takahashi, Makoto;
Watanabe, Yuichiro;
Someya, Toshiyuki;
Kakita, Akiyoshi;
Takahashi, Hitoshi;
Nawa, Hiroyuki

Publication type:

Article

Decreased TCF7L2 protein levels in type 2 diabetes mellitus correlate with downregulation of GIP- and GLP-1 receptors and impaired beta-cell function.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2388, doi. 10.1093/hmg/ddp178

By:

Shu, Luan;
Matveyenko, Aleksey V.;
Kerr-Conte, Julie;
Cho, Jae-Hyoung;
McIntosh, Christopher H.S.;
Maedler, Kathrin

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 13, p. NP, doi. 10.1093/hmg/ddp225
Publication type:: Article

Ectopic expression of CGG containing mRNA is neurotoxic in mammals.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2443, doi. 10.1093/hmg/ddp182

By:

Hashem, Vera;
Galloway, Jocelyn N.;
Mori, Mayra;
Willemsen, Rob;
Oostra, Ben A.;
Paylor, Richard;
Nelson, David L.

Publication type:

Article

Systems biology of autosomal dominant polycystic kidney disease (ADPKD): computational identification of gene expression pathways and integrated regulatory networks.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2328, doi. 10.1093/hmg/ddp165

By:

Song, Xuewen;
Di Giovanni, Valeria;
He, Ning;
Wang, Kairong;
Ingram, Alistair;
Rosenblum, Norman D.;
Pei, York

Publication type:

Article

The T-381C SNP in BNP gene may be modestly associated with type 2 diabetes: an updated meta-analysis in 49 279 subjects.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2495, doi. 10.1093/hmg/ddp169

By:

Choquet, Hélène;
Cavalcanti-Proença, Christine;
Lecoeur, Cécile;
Dina, Christian;
Cauchi, Stéphane;
Vaxillaire, Martine;
Hadjadj, Samy;
Horber, Fritz;
Potoczna, Natasha;
Charpentier, Guillaume;
Ruiz, Juan;
Hercberg, Serge;
Maimaitiming, Suliya;
Roussel, Ronan;
Boenhnke, Michael;
Jackson, Anne U.;
Patsch, Wolfgang;
Krempler, Franz;
Voight, Benjamin F.;
Altshuler, David

Publication type:

Article

Hypoxanthine-guanine phosphoribosyl transferase regulates early developmental programming of dopamine neurons: implications for Lesch-Nyhan disease pathogenesis.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2317, doi. 10.1093/hmg/ddp164

By:

Ceballos-Picot, Irene;
Mockel, Lionel;
Potier, Marie-Claude;
Dauphinot, Luce;
Shirley, Thomas L.;
Torero-Ibad, Raoul;
Fuchs, Julia;
Jinnah, H.A.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 13, p. NP, doi. 10.1093/hmg/ddp223
Publication type:: Article

Functional genomic analysis of frataxin deficiency reveals tissue-specific alterations and identifies the PPARγ pathway as a therapeutic target in Friedreich’s ataxia.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2452, doi. 10.1093/hmg/ddp183

By:

Coppola, Giovanni;
Marmolino, Daniele;
Lu, Daning;
Wang, Qing;
Cnop, Miriam;
Rai, Myriam;
Acquaviva, Fabio;
Cocozza, Sergio;
Pandolfo, Massimo;
Geschwind, Daniel H.

Publication type:

Article

Activating the synthesis of progerin, the mutant prelamin A in Hutchinson–Gilford progeria syndrome, with antisense oligonucleotides.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2462, doi. 10.1093/hmg/ddp184

By:

Fong, Loren G.;
Vickers, Timothy A.;
Farber, Emily A.;
Choi, Christine;
Yun, Ui Jeong;
Hu, Yan;
Yang, Shao H.;
Coffinier, Catherine;
Lee, Roger;
Yin, Liya;
Davies, Brandon S.J.;
Andres, Douglas A.;
Spielmann, H. Peter;
Bennett, C. Frank;
Young, Stephen G.

Publication type:

Article

Mouse models of MeCP2 disorders share gene expression changes in the cerebellum and hypothalamus.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2431, doi. 10.1093/hmg/ddp181

By:

Ben-Shachar, Shay;
Chahrour, Maria;
Thaller, Christina;
Shaw, Chad A.;
Zoghbi, Huda Y.

Publication type:

Article

Sar1-GTPase-dependent ER exit of KATP channels revealed by a mutation causing congenital hyperinsulinism.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2400, doi. 10.1093/hmg/ddp179

By:

Taneja, Tarvinder K.;
Mankouri, Jamel;
Karnik, Rucha;
Kannan, Soundarapandian;
Smith, Andrew J.;
Munsey, Tim;
Christesen, Henrik B.T.;
Beech, David J.;
Sivaprasadarao, Asipu

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 13, p. NP, doi. 10.1093/hmg/ddp228
Publication type:: Article

RNA transcripts, miRNA-sized fragments and proteins produced from D4Z4 units: new candidates for the pathophysiology of facioscapulohumeral dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2414, doi. 10.1093/hmg/ddp180

By:

Snider, Lauren;
Asawachaicharn, Amy;
Tyler, Ashlee E.;
Geng, Linda N.;
Petek, Lisa M.;
Maves, Lisa;
Miller, Daniel G.;
Lemmers, Richard J.L.F.;
Winokur, Sara T.;
Tawil, Rabi;
van der Maarel, Silvère M.;
Filippova, Galina N.;
Tapscott, Stephen J.

Publication type:

Article

A C-terminal mutation of ATP1A3 underscores the crucial role of sodium affinity in the pathophysiology of rapid-onset dystonia-parkinsonism.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2370, doi. 10.1093/hmg/ddp170

By:

Blanco-Arias, Patricia;
Einholm, Anja P.;
Mamsa, Hafsa;
Concheiro, Carla;
Gutiérrez-de-Terán, Hugo;
Romero, Jesús;
Toustrup-Jensen, Mads S.;
Carracedo, Ángel;
Jen, Joanna C.;
Vilsen, Bente;
Sobrido, María-Jesús

Publication type:

Article

Formin1 disruption confers oligodactylism and alters Bmp signaling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2472, doi. 10.1093/hmg/ddp185

By:

Zhou, Fen;
Leder, Philip;
Zuniga, Aimée;
Dettenhofer, Markus

Publication type:

Article

A hypomorphic allele of Tsc2 highlights the role of TSC1/TSC2 in signaling to AKT and models mild human TSC2 alleles.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2378, doi. 10.1093/hmg/ddp176

By:

Pollizzi, Kristen;
Malinowska-Kolodziej, Izabela;
Doughty, Cheryl;
Betz, Charles;
Ma, Jian;
Goto, June;
Kwiatkowski, David J.

Publication type:

Article

TRIM32 is an E3 ubiquitin ligase for dysbindin.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2344, doi. 10.1093/hmg/ddp167

By:

Locke, Matthew;
Tinsley, Caroline L.;
Benson, Matthew A.;
Blake, Derek J.

Publication type:

Article

Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2518, doi. 10.1093/hmg/ddp177

By:

Barton, Anne;
Eyre, Steve;
Ke, Xiayi;
Hinks, Anne;
Bowes, John;
Flynn, Edward;
Martin, Paul;
Wilson, Anthony G.;
Morgan, Ann W.;
Emery, Paul;
Steer, Sophia;
Hocking, Lynne J.;
Reid, David M.;
Harrison, Pille;
Wordsworth, Paul;
Thomson, Wendy;
Worthington, Jane

Publication type:

Article

Functional polymorphisms, altered gene expression and genetic association link NRH:quinone oxidoreductase 2 to breast cancer with wild-type p53.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2502, doi. 10.1093/hmg/ddp171

By:

Yu, Ke-Da;
Di, Gen-Hong;
Yuan, Wen-Tao;
Fan, Lei;
Wu, Jiong;
Hu, Zhen;
Shen, Zhen-Zhou;
Zheng, Ying;
Huang, Wei;
Shao, Zhi-Ming

Publication type:

Article

Thin filament length dysregulation contributes to muscle weakness in nemaline myopathy patients with nebulin deficiency.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 13, p. 2359, doi. 10.1093/hmg/ddp168

By:

Ottenheijm, Coen A.C.;
Witt, Christian C.;
Stienen, Ger J.;
Labeit, Siegfried;
Beggs, Alan H.;
Granzier, Henk

Publication type:

Article