Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 4

Results: 23

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt023
Publication type:: Article

Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 717, doi. 10.1093/hmg/dds479

By:

Farg, Manal A.;
Soo, Kai Y.;
Warraich, Sadaf T.;
Sundaramoorthy, Vinod;
Blair, Ian P.;
Atkin, Julie D.

Publication type:

Article

Noncanonical microRNAs and endogenous siRNAs in normal and psoriatic human skin.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 737, doi. 10.1093/hmg/dds481

By:

Xia, Jing;
Joyce, Cailin E.;
Bowcock, Anne M.;
Zhang, Weixiong

Publication type:

Article

Reduction of polyglutamine toxicity by TDP-43, FUS and progranulin in Huntington's disease models.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 782, doi. 10.1093/hmg/dds485

By:

Tauffenberger, Arnaud;
Chitramuthu, Babykumari P.;
Bateman, Andrew;
Bennett, Hugh PJ.;
Parker, J. Alex

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt024
Publication type:: Article

A genome-wide study shows a limited contribution of rare copy number variants to Alzheimer's disease risk.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 816, doi. 10.1093/hmg/dds476

By:

Chapman, Jade;
Rees, Elliott;
Harold, Denise;
Ivanov, Dobril;
Gerrish, Amy;
Sims, Rebecca;
Hollingworth, Paul;
Stretton, Alexandra;
Holmans, Peter;
Owen, Michael J.;
O'Donovan, Michael C.;
Williams, Julie;
Kirov, George

Publication type:

Article

The frontotemporal lobar degeneration risk factor, TMEM106B, regulates lysosomal morphology and function.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 685, doi. 10.1093/hmg/dds475

By:

Brady, Owen A.;
Zheng, Yanqiu;
Murphy, Kira;
Huang, Marshall;
Hu, Fenghua

Publication type:

Article

Oncogenic FGFR3 gene fusions in bladder cancer.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 795, doi. 10.1093/hmg/dds486

By:

Williams, Sarah V.;
Hurst, Carolyn D.;
Knowles, Margaret A.

Publication type:

Article

Haploinsufficiency at the human IFNGR2 locus contributes to mycobacterial disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 769, doi. 10.1093/hmg/dds484

By:

Kong, Xiao-Fei;
Vogt, Guillaume;
Itan, Yuval;
Macura-Biegun, Anna;
Szaflarska, Anna;
Kowalczyk, Danuta;
Chapgier, Ariane;
Abhyankar, Avinash;
Furthner, Dieter;
Djambas Khayat, Claudia;
Okada, Satoshi;
Bryant, Vanessa L.;
Bogunovic, Dusan;
Kreins, Alexandra;
Moncada-Vélez, Marcela;
Migaud, Mélanie;
Al-Ajaji, Sulaiman;
Al-Muhsen, Saleh;
Holland, Steven M.;
Abel, Laurent

Publication type:

Article

Expanded CTG repeats trigger miRNA alterations in Drosophila that are conserved in myotonic dystrophy type 1 patients.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 704, doi. 10.1093/hmg/dds478

By:

Fernandez-Costa, Juan M.;
Garcia-Lopez, Amparo;
Zuñiga, Sheila;
Fernandez-Pedrosa, Victoria;
Felipo-Benavent, Amelia;
Mata, Manuel;
Jaka, Oihane;
Aiastui, Ana;
Hernandez-Torres, Francisco;
Aguado, Begoña;
Perez-Alonso, Manuel;
Vilchez, Jesus J.;
Lopez de Munain, Adolfo;
Artero, Ruben D.

Publication type:

Article

Focal facial dermal dysplasia, type IV, is caused by mutations in CYP26C1.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 696, doi. 10.1093/hmg/dds477

By:

Slavotinek, Anne M.;
Mehrotra, Pavni;
Nazarenko, Irina;
Tang, Paul Ling-Fung;
Lao, Richard;
Cameron, Don;
Li, Ben;
Chu, Catherine;
Chou, Chris;
Marqueling, Ann L.;
Yahyavi, Mani;
Cordoro, Kelly;
Frieden, Ilona;
Glaser, Tom;
Prescott, Trine;
Morren, Marie-Anne;
Devriendt, Koen;
Kwok, Pui-yan;
Petkovich, Martin;
Desnick, Robert J.

Publication type:

Article

A mutation in the FAM36A gene, the human ortholog of COX20, impairs cytochrome c oxidase assembly and is associated with ataxia and muscle hypotonia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 656, doi. 10.1093/hmg/dds473

By:

Szklarczyk, Radek;
Wanschers, Bas F. J.;
Nijtmans, Leo G.;
Rodenburg, Richard J.;
Zschocke, Johannes;
Dikow, Nicola;
van den Brand, Mariël A. M.;
Hendriks-Franssen, Marthe G. M.;
Gilissen, Christian;
Veltman, Joris A.;
Nooteboom, Marco;
Koopman, Werner J. H.;
Willems, Peter H.G.M.;
Smeitink, Jan A. M.;
Huynen, Martijn A.;
van den Heuvel, Lambertus P.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt025
Publication type:: Article

COPI transport complexes bind to specific RNAs in neuronal cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 729, doi. 10.1093/hmg/dds480

By:

Todd, Adrian G.;
Lin, Hai;
Ebert, Allison D.;
Liu, Yunlong;
Androphy, Elliot J.

Publication type:

Article

A novel function for the survival motoneuron protein as a translational regulator.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 668, doi. 10.1093/hmg/dds474

By:

Sanchez, Gabriel;
Dury, Alain Y.;
Murray, Lyndsay M.;
Biondi, Olivier;
Tadesse, Helina;
El Fatimy, Rachid;
Kothary, Rashmi;
Charbonnier, Frédéric;
Khandjian, Edouard W.;
Côté, Jocelyn

Publication type:

Article

Replicative mechanisms of CNV formation preferentially occur as intrachromosomal events: evidence from Potocki–Lupski duplication syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 749, doi. 10.1093/hmg/dds482

By:

Sun, Zhe;
Liu, Pengfei;
Jia, Xueyuan;
Withers, Marjorie A.;
Jin, Li;
Lupski, James R.;
Zhang, Feng

Publication type:

Article

Muscle-specific expression of LARGE restores neuromuscular transmission deficits in dystrophic LARGEmyd mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 757, doi. 10.1093/hmg/dds483

By:

Gumerson, Jessica D.;
Davis, Carol S.;
Kabaeva, Zhyldyz T.;
Hayes, John M.;
Brooks, Susan V.;
Michele, Daniel E.

Publication type:

Article

Protein disulfide isomerase in ALS mouse glia links protein misfolding with NADPH oxidase-catalyzed superoxide production.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 646, doi. 10.1093/hmg/dds472

By:

Jaronen, Merja;
Vehviläinen, Piia;
Malm, Tarja;
Keksa-Goldsteine, Velta;
Pollari, Eveliina;
Valonen, Piia;
Koistinaho, Jari;
Goldsteins, Gundars

Publication type:

Article

Neuronopathic Gaucher's disease: induced pluripotent stem cells for disease modelling and testing chaperone activity of small compounds.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 633, doi. 10.1093/hmg/dds471

By:

Tiscornia, Gustavo;
Lorenzo Vivas, Erika;
Matalonga, Leslie;
Berniakovich, Ina;
Barragán Monasterio, Montserrat;
Eguizábal, Cristina;
Gort, Laura;
González, Federico;
Ortiz Mellet, Carmen;
García Fernández, José Manuel;
Ribes, Antonia;
Veiga, Anna;
Izpisua Belmonte, Juan Carlos

Publication type:

Article

Estimation and partitioning of polygenic variation captured by common SNPs for Alzheimer's disease, multiple sclerosis and endometriosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 832

By:

Lee, S. Hong;
Harold, Denise;
Nyholt, Dale R.;
Goddard, Michael E.;
Zondervan, Krina T.;
Williams, Julie;
Montgomery, Grant W.;
Wray, Naomi R.;
Visscher, Peter M.

Publication type:

Article

Yeast model for evaluating the pathogenic significance of SDHB, SDHC and SDHD mutations in PHEO–PGL syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 804, doi. 10.1093/hmg/dds487

By:

Panizza, Elena;
Ercolino, Tonino;
Mori, Luigi;
Rapizzi, Elena;
Castellano, Maurizio;
Opocher, Giuseppe;
Ferrero, Ileana;
Neumann, Hartmut P.H.;
Mannelli, Massimo;
Goffrini, Paola

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt026
Publication type:: Article

Common variation at 2q22.3 (ZEB2) influences the risk of renal cancer.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 4, p. 825, doi. 10.1093/hmg/dds489

By:

Henrion, Marc;
Frampton, Matthew;
Scelo, Ghislaine;
Purdue, Mark;
Ye, Yuanqing;
Broderick, Peter;
Ritchie, Alastair;
Kaplan, Richard;
Meade, Angela;
McKay, James;
Johansson, Mattias;
Lathrop, Mark;
Larkin, James;
Rothman, Nathaniel;
Wang, Zhaoming;
Chow, Wong-Ho;
Stevens, Victoria L.;
Ryan Diver, W.;
Gapstur, Susan M.;
Albanes, Demetrius

Publication type:

Article