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

Results: 23

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
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
Contents Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt023
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
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
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
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
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
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
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
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
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
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
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
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
Editorial Board.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt025
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
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
Subscription Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. NP, doi. 10.1093/hmg/ddt026
Publication type:
Article