Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 3

Results: 17

Disruption of polycystin-L causes hippocampal and thalamocortical hyperexcitability.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 448, doi. 10.1093/hmg/ddv484

By:

Gang Yao;
Chong Luo;
Harvey, Michael;
Maoqing Wu;
Schreiber, Taylor H.;
Yanjun Du;
Basora, Nuria;
Xuefeng Su;
Contreras, Diego;
Jing Zhou

Publication type:

Article

Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 620, doi. 10.1093/hmg/ddv494

By:

Zhaoming Wang;
Wei Jie Seow;
Kouya Shiraishi;
Chao A. Hsiung;
Keitaro Matsuo;
Jie Liu;
Kexin Chen;
Taiki Yamji;
Yang Yang;
I-Shou Chang;
Chen Wu;
Yun-Chul Hong;
Laurie Burdett;
Wyatt, Kathleen;
Chung, Charles C.;
Shengchao A. Li;
Yeager, Meredith;
Hutchinson, Amy;
Wei Hu;
Caporaso, Neil

Publication type:

Article

De novo dominant ASXL3 mutations alter H2A deubiquitination and transcription in Bainbridge-Ropers syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 597, doi. 10.1093/hmg/ddv499

By:

Srivastava, Anshika;
Ritesh, K. C.;
Yao-Chang Tsan;
Liao, Rosy;
Fengyun Su;
Xuhong Cao;
Hannibal, Mark C.;
Keegan, Catherine E.;
Chinnaiyan, Arul M.;
Martin, Donna M.;
Bielas, Stephanie L.

Publication type:

Article

Epigenome-wide association study identifies TXNIP gene associated with type 2 diabetes mellitus and sustained hyperglycemia.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 609, doi. 10.1093/hmg/ddv493

By:

Soriano-Tárraga, Carolina;
Jiménez-Conde, Jordi;
Giralt-Steinhauer, Eva;
Mola-Caminal, Marina;
Vivanco-Hidalgo, Rosa M.;
Ois, Angel;
Rodríguez-Campello, Ana;
Cuadrado-Godia, Elisa;
Sayols-Baixeras, Sergi;
Elosua, Roberto;
Roquer, Jaume

Publication type:

Article

Identification and functional characterization of de novo FOXP1 variants provides novel insights into the etiology of neurodevelopmental disorder.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 546, doi. 10.1093/hmg/ddv495

By:

Sollis, Elliot;
Graham, Sarah A.;
Vino, Arianna;
Froehlich, Henning;
Vreeburg, Maaike;
Dimitropoulou, Danai;
Gilissen, Christian;
Pfundt, Rolph;
Rappold, Gudrun A.;
Brunner, Han G.;
Deriziotis, Pelagia;
Fisher, Simon E.

Publication type:

Article

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 472, doi. 10.1093/hmg/ddv486

By:

Sobrier, Marie-Laure;
Yu-Cheng Tsai;
Pérez, Christelle;
Leheup, Bruno;
Bouceba, Tahar;
Duquesnoy, Philippe;
Copin, Bruno;
Sizova, Daria;
Penzo, Alfredo;
Stanger, Ben Z.;
Cooke, Nancy E.;
Liebhaber, Stephen A.;
Amselem, Serge

Publication type:

Article

Large-scale probabilistic 3D organization of human chromosome territories.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 419, doi. 10.1093/hmg/ddv479

By:

Sehgal, Nitasha;
Fritz, Andrew J.;
Vecerova, Jaromira;
Hu Ding;
Zihe Chen;
Stojkovic, Branislav;
Bhattacharya, Sambit;
Jinhui Xu;
Berezney, Ronald

Publication type:

Article

SMN deficiency does not induce oxidative stress in SMA iPSC-derived astrocytes or motor neurons.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 514, doi. 10.1093/hmg/ddv489

By:

Patitucci, Teresa N.;
Ebert, Allison D.

Publication type:

Article

TDP-43 functions within a network of hnRNP proteins to inhibit the production of a truncated human SORT1 receptor.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 534, doi. 10.1093/hmg/ddv491

By:

Mohagheghi, Fatemeh;
Prudencio, Mercedes;
Stuani, Cristiana;
Cook, Casey;
Jansen-West, Karen;
Dickson, Dennis W.;
Petrucelli, Leonard;
Buratti, Emanuele

Publication type:

Article

The exome sequencing identified the mutation in YARS2 encoding the mitochondrial tyrosyl-tRNA synthetase as a nuclear modifier for the phenotypic manifestation of Leber's hereditary optic neuropathy-associated mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 584, doi. 10.1093/hmg/ddv498

By:

Pingping Jiang;
Xiaofen Jin;
Yanyan Peng;
Meng Wang;
Hao Liu;
Xiaoling Liu;
Zengjun Zhang;
Yanchun Ji;
Juanjuan Zhang;
Min Liang;
Fuxin Zhao;
Yan-Hong Sun;
Minglian Zhang;
Xiangtian Zhou;
Ye Chen;
Jun Qin Mo;
Taosheng Huang;
Jia Qu;
Min-Xin Guan

Publication type:

Article

Impact of the Usher syndrome on olfaction.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 524, doi. 10.1093/hmg/ddv490

By:

Jansen, Fabian;
Kalbe, Benjamin;
Scholz, Paul;
Mikosz, Marta;
Wunderlich, Kirsten A.;
Kurtenbach, Stefan;
Nagel-Wolfrum, Kerstin;
Wolfrum, Uwe;
Hatt, Hanns;
Osterloh, Sabrina

Publication type:

Article

ACTG2 variants impair actin polymerization in sporadic Megacystis Microcolon Intestinal Hypoperistalsis Syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 571, doi. 10.1093/hmg/ddv497

By:

Halim, Danny;
Hofstra, Robert M. W.;
Signorile, Luca;
Verdijk, Rob M.;
van der Werf, Christine S.;
Sribudiani, Yunia;
Brouwer, Rutger W. W.;
van IJcken, Wilfred F. J.;
Dahl, Niklas;
Verheij, Joke B. G. M.;
Baumann, Clarisse;
Kerner, John;
van Bever, Yolande;
Galjart, Niels;
Wijnen, Rene M. H.;
Tibboel, Dick;
Burns, Alan J.;
Muller, Françoise;
Brooks, Alice S.;
Alves, Maria M.

Publication type:

Article

Fine mapping of meiotic NAHR-associated crossovers causing large NF1 deletions.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 484, doi. 10.1093/hmg/ddv487

By:

Hillmer, Morten;
Wagner, David;
Summerer, Anna;
Daiber, Michaela;
Mautner, Victor-Felix;
Messiaen, Ludwine;
Cooper, David N.;
Kehrer-Sawatzki, Hildegard

Publication type:

Article

OFIP/KIAA0753 forms a complex with OFD1 and FOR20 at pericentriolar satellites and centrosomes and is mutated in one individual with oral-facial-digital syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 497, doi. 10.1093/hmg/ddv488

By:

Chevrier, Véronique;
Bruel, Ange-Line;
Van Dam, Teunis J. P.;
Franco, Brunella;
Lo Scalzo, Melissa;
Lembo, Frédérique;
Audebert, Stéphane;
Baudelet, Emilie;
Isnardon, Daniel;
Bole, Angélique;
Borg, Jean-Paul;
Kuentz, Paul;
Thevenon, Julien;
Burglen, Lydie;
Faivre, Laurence;
Rivière, Jean-Baptiste;
Huynen, Martijn A.;
Birnbaum, Daniel;
Rosnet, Olivier;
Thauvin-Robinet, Christel

Publication type:

Article

Mitochondrial defects and neurodegeneration in mice overexpressing wild-type or G399S mutant HtrA2.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 459, doi. 10.1093/hmg/ddv485

By:

Casadei, Nicolas;
Sood, Poonam;
Ulrich, Thomas;
Fallier-Becker, Petra;
Kieper, Nicole;
Helling, Stefan;
May, Caroline;
Glaab, Enrico;
Jing Chen;
Nuber, Silke;
Marcus, Katrin;
Rapaport, Doron;
Ott, Thomas;
Riess, Olaf;
Krüger, Rejko;
Fitzgerald, Julia C.

Publication type:

Article

The molecular basis of variable phenotypic severity among common missense mutations causing Rett syndrome.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 558, doi. 10.1093/hmg/ddv496

By:

Brown, Kyla;
Selfridge, Jim;
Lagger, Sabine;
Connelly, John;
De Sousa, Dina;
Kerr, Alastair;
Webb, Shaun;
Guy, Jacky;
Merusi, Cara;
Koerner, Martha V.;
Bird, Adrian

Publication type:

Article

Urogenital development in Pallister-Hall syndrome is disrupted in a cell-lineage-specific manner by constitutive expression of GLI3 repressor.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 3, p. 437, doi. 10.1093/hmg/ddv483

By:

Blake, Joshua;
Di Hu;
Cain, Jason E.;
Rosenblum, Norman D.

Publication type:

Article