Works matching IS 09646906 AND DT 2012 AND VI 21 AND IP 2

Results: 24

Mutant huntingtin's interaction with mitochondrial protein Drp1 impairs mitochondrial biogenesis and causes defective axonal transport and synaptic degeneration in Huntington's disease.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 406, doi. 10.1093/hmg/ddr475

By:

Shirendeb, Ulziibat P.;
Calkins, Marcus J.;
Manczak, Maria;
Anekonda, Vishwanath;
Dufour, Brett;
McBride, Jodi L.;
Mao, Peizhong;
Reddy, P. Hemachandra

Publication type:

Article

Population-specific coding variant underlies genome-wide association with adiponectin level.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 463, doi. 10.1093/hmg/ddr480

By:

Croteau-Chonka, Damien C.;
Wu, Ying;
Li, Yun;
Fogarty, Marie P.;
Lange, Leslie A.;
Kuzawa, Christopher W.;
McDade, Thomas W.;
Borja, Judith B.;
Luo, Jingchun;
AbdelBaky, Omar;
Combs, Terry P.;
Adair, Linda S.;
Lange, Ethan M.;
Mohlke, Karen L.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr565
Publication type:: Article

Dysregulation of Rho GTPases in the αPix/Arhgef6 mouse model of X-linked intellectual disability is paralleled by impaired structural and synaptic plasticity and cognitive deficits.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 268, doi. 10.1093/hmg/ddr457

By:

Ramakers, Ger J.A.;
Wolfer, David;
Rosenberger, Georg;
Kuchenbecker, Kerstin;
Kreienkamp, Hans-Jürgen;
Prange-Kiel, Janine;
Rune, Gabriele;
Richter, Karin;
Langnaese, Kristina;
Masneuf, Sophie;
Bösl, Michael R.;
Fischer, Klaus-Dieter;
Krugers, Harm J.;
Lipp, Hans-Peter;
van Galen, Elly;
Kutsche, Kerstin

Publication type:

Article

Deregulation of the A-to-I RNA editing mechanism in psychiatric disorders.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 311, doi. 10.1093/hmg/ddr461

By:

Silberberg, Gilad;
Lundin, Daniel;
Navon, Ruth;
Öhman, Marie

Publication type:

Article

Germline SDHx variants modify breast and thyroid cancer risks in Cowden and Cowden-like syndrome via FAD/NAD-dependant destabilization of p53.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 300, doi. 10.1093/hmg/ddr459

By:

Ni, Ying;
He, Xin;
Chen, Jinlian;
Moline, Jessica;
Mester, Jessica;
Orloff, Mohammed S.;
Ringel, Matthew D.;
Eng, Charis

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr561
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr563
Publication type:: Article

NMNAT suppresses Tau-induced neurodegeneration by promoting clearance of hyperphosphorylated Tau oligomers in a Drosophila model of tauopathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 237, doi. 10.1093/hmg/ddr449

By:

Ali, Yousuf O.;
Ruan, Kai;
Zhai, R. Grace

Publication type:

Article

Inherited and de novo SHANK2 variants associated with autism spectrum disorder impair neuronal morphogenesis and physiology.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 344, doi. 10.1093/hmg/ddr470

By:

Berkel, Simone;
Tang, Wannan;
Treviño, Mario;
Vogt, Miriam;
Obenhaus, Horst Andreas;
Gass, Peter;
Scherer, Stephen Wayne;
Sprengel, Rolf;
Schratt, Gerhard;
Rappold, Gudrun Anna

Publication type:

Article

CREB-activity and nmnat2 transcription are down-regulated prior to neurodegeneration, while NMNAT2 over-expression is neuroprotective, in a mouse model of human tauopathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 251, doi. 10.1093/hmg/ddr492

By:

Ljungberg, M. Cecilia;
Ali, Yousuf O.;
Zhu, Jie;
Wu, Chia-Shan;
Oka, Kazuhiro;
Zhai, R. Grace;
Lu, Hui-Chen

Publication type:

Article

Alterations in expression levels of deafness dystonia protein 1 affect mitochondrial morphology.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 287, doi. 10.1093/hmg/ddr458

By:

Engl, Gertraud;
Florian, Stefan;
Tranebjærg, Lisbeth;
Rapaport, Doron

Publication type:

Article

A frameshift mutation in LRSAM1 is responsible for a dominant hereditary polyneuropathy.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 358, doi. 10.1093/hmg/ddr471

By:

Weterman, Marian A.J.;
Sorrentino, Vincenzo;
Kasher, Paul R.;
Jakobs, Marja E.;
van Engelen, Baziel G.M.;
Fluiter, Kees;
de Wissel, Marit B.;
Sizarov, Aleksander;
Nürnberg, Gudrun;
Nürnberg, Peter;
Zelcer, Noam;
Schelhaas, H. Jurgen;
Baas, Frank

Publication type:

Article

A genome-wide association study identifies a novel susceptibility locus for renal cell carcinoma on 12p11.23.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 456, doi. 10.1093/hmg/ddr479

By:

Wu, Xifeng;
Scelo, Ghislaine;
Purdue, Mark P.;
Rothman, Nathaniel;
Johansson, Mattias;
Ye, Yuanqing;
Wang, Zhaoming;
Zelenika, Diana;
Moore, Lee E.;
Wood, Christopher G.;
Prokhortchouk, Egor;
Gaborieau, Valerie;
Jacobs, Kevin B.;
Chow, Wong-Ho;
Toro, Jorge R.;
Zaridze, David;
Lin, Jie;
Lubinski, Jan;
Trubicka, Joanna;
Szeszenia-Dabrowska, Neonilia

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2012, v. 21, n. 2, p. NP, doi. 10.1093/hmg/ddr567
Publication type:: Article

An alpha 2 collagen VIII transgenic knock-in mouse model of Fuchs endothelial corneal dystrophy shows early endothelial cell unfolded protein response and apoptosis.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 384, doi. 10.1093/hmg/ddr473

By:

Jun, Albert S.;
Meng, Huan;
Ramanan, Naren;
Matthaei, Mario;
Chakravarti, Shukti;
Bonshek, Richard;
Black, Graeme C.M.;
Grebe, Rhonda;
Kimos, Martha

Publication type:

Article

Identification of four novel variants that influence central corneal thickness in multi-ethnic Asian populations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 437, doi. 10.1093/hmg/ddr463

By:

Cornes, Belinda K.;
Khor, Chiea Chuen;
Nongpiur, Monisha E.;
Xu, Liang;
Tay, Wan-Ting;
Zheng, Yingfeng;
Lavanya, Raghavan;
Li, Yang;
Wu, Renyi;
Sim, Xueling;
Wang, Ya-Xing;
Chen, Peng;
Teo, Yik Ying;
Chia, Kee-Seng;
Seielstad, Mark;
Liu, Jianjun;
Hibberd, Martin L.;
Cheng, Ching-Yu;
Saw, Seang-Mei;
Tai, E-Shyong

Publication type:

Article

Gcn5 loss-of-function accelerates cerebellar and retinal degeneration in a SCA7 mouse model.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 394, doi. 10.1093/hmg/ddr474

By:

Chen, Yi Chun;
Gatchel, Jennifer R.;
Lewis, Rebecca W.;
Mao, Chai-An;
Grant, Patrick A.;
Zoghbi, Huda Y.;
Dent, Sharon Y.R.

Publication type:

Article

Long-range DNA looping and gene expression analyses identify DEXI as an autoimmune disease candidate gene.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 322, doi. 10.1093/hmg/ddr468

By:

Davison, Lucy J.;
Wallace, Chris;
Cooper, Jason D.;
Cope, Nathan F.;
Wilson, Nicola K.;
Smyth, Deborah J.;
Howson, Joanna M.M.;
Saleh, Nada;
Al-Jeffery, Abdullah;
Angus, Karen L.;
Stevens, Helen E.;
Nutland, Sarah;
Duley, Simon;
Coulson, Richard M.R.;
Walker, Neil M.;
Burren, Oliver S.;
Rice, Catherine M.;
Cambien, Francois;
Zeller, Tanja;
Munzel, Thomas

Publication type:

Article

Association of 8q22.3 locus in Chinese Han with idiopathic premature ovarian failure (POF).

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 430, doi. 10.1093/hmg/ddr462

By:

Qin, Yingying;
Zhao, Han;
Xu, Jianfeng;
Shi, Yongyong;
Li, Zhiqiang;
Qiao, Jie;
Liu, Jiayin;
Qin, Chunrong;
Ren, Chune;
Li, Jie;
Chen, Shiling;
Cao, Yunxia;
Simpson, Joe Leigh;
Chen, Zi-Jiang

Publication type:

Article

Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 371, doi. 10.1093/hmg/ddr472

By:

Toperoff, Gidon;
Aran, Dvir;
Kark, Jeremy D.;
Rosenberg, Michael;
Dubnikov, Tatyana;
Nissan, Batel;
Wainstein, Julio;
Friedlander, Yechiel;
Levy-Lahad, Ephrat;
Glaser, Benjamin;
Hellman, Asaf

Publication type:

Article

Loci affecting gamma-glutamyl transferase in adults and adolescents show age × SNP interaction and cardiometabolic disease associations.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 446, doi. 10.1093/hmg/ddr478

By:

Middelberg, Rita P.;
Benyamin, Beben;
de Moor, Marleen H.M.;
Warrington, Nicole M.;
Gordon, Scott;
Henders, Anjali K.;
Medland, Sarah E.;
Nyholt, Dale R.;
de Geus, Eco J.C.;
Hottenga, Jouke J.;
Willemsen, Gonneke;
Beilin, Lawrence J.;
Mori, Trevor A.;
Wright, Margaret J.;
Heath, Andrew C.;
Madden, Pamela A.F.;
Boomsma, Dorret I.;
Pennell, Craig E.;
Montgomery, Grant W.;
Martin, Nicholas G.

Publication type:

Article

E-cadherin impairment increases cell survival through Notch-dependent upregulation of Bcl-2.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 334, doi. 10.1093/hmg/ddr469

By:

Ferreira, António Carlos;
Suriano, Gianpaolo;
Mendes, Nuno;
Gomes, Bárbara;
Wen, Xiaogang;
Carneiro, Fátima;
Seruca, Raquel;
Machado, José Carlos

Publication type:

Article

A genome-wide association study identifies a potential novel gene locus for keratoconus, one of the commonest causes for corneal transplantation in developed countries.

Published in:

Human Molecular Genetics, 2012, v. 21, n. 2, p. 421, doi. 10.1093/hmg/ddr460

By:

Li, Xiaohui;
Bykhovskaya, Yelena;
Haritunians, Talin;
Siscovick, David;
Aldave, Anthony;
Szczotka-Flynn, Loretta;
Iyengar, Sudha K.;
Rotter, Jerome I.;
Taylor, Kent D.;
Rabinowitz, Yaron S.

Publication type:

Article