Works matching IS 09646906 AND DT 2016 AND VI 25 AND IP 9

Results: 18

Whole exome sequencing identifies lncRNA GAS8-AS1 and LPAR4 as novel papillary thyroid carcinoma driver alternations.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1875, doi. 10.1093/hmg/ddw056

By:

Wenting Pan;
Liqing Zhou;
Minghua Ge;
Bin Zhang;
Xinyu Yang;
Xiangyu Xiong;
Guobin Fu;
Jian Zhang;
Xilin Nie;
Hongmin Li;
Xiaohu Tang;
Jinyu Wei;
Mingming Shao;
Jian Zheng;
Qipeng Yuan;
Wen Tan;
Chen Wu;
Ming Yang;
Dongxin Lin

Publication type:

Article

Genome-wide association analysis of self-reported events in 6135 individuals and 252 827 controls identifies 8 loci associated with thrombosis.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1867, doi. 10.1093/hmg/ddw037

By:

Hinds, David A.;
Buil, Alfonso;
Ziemek, Daniel;
Martinez-Perez, Angel;
Malik, Rainer;
Folkersen, Lasse;
Germain, Marine;
Mälarstig, Anders;
Brown, Andrew;
Soria, Jose Manuel;
Dichgans, Martin;
Nan Bing;
Franco-Cereceda, Anders;
Juan Carlos Souto;
Dermitzakis, Emmanouil T.;
Hamsten, Anders;
Worrall, Bradford B.;
Tung, Joyce Y.;
Sabater-Lleal, Maria

Publication type:

Article

A general framework for meta-analyzing dependent studies with overlapping subjects in association mapping.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1857, doi. 10.1093/hmg/ddw049

By:

Buhm Han;
Dat Duong;
Jae Hoon Sul;
de Bakker, Paul I. W.;
Eskin, Eleazar;
Raychaudhuri, Soumya

Publication type:

Article

Germline ESR2 mutation predisposes to medullary thyroid carcinoma and causes up-regulation of RET expression.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1836, doi. 10.1093/hmg/ddw057

By:

Smith, Joel;
Read, Martin L.;
Hoffman, Jon;
Brown, Rachel;
Bradshaw, Beth;
Campbell, Christopher;
Cole, Trevor;
Navas, Johanna Dieguez;
Eatock, Fiona;
Gundara, Justin S.;
Lian, Eric;
Mcmullan, Dom;
Morgan, Neil V.;
Mulligan, Lois;
Morrison, Patrick J.;
Robledo, Mercedes;
Simpson, Michael A.;
Smith, Vicki E.;
Stewart, Sue;
Trembath, Richard C.

Publication type:

Article

Missense variants in the middle domain of DNM1L in cases of infantile encephalopathy alter peroxisomes and mitochondria when assayed in Drosophila.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1846, doi. 10.1093/hmg/ddw059

By:

Yu-Hsin Chao;
Robak, Laurie A.;
Fan Xia;
Koenig, Mary K.;
Adesina, Adekunle;
Bacino, Carlos A.;
Scaglia, Fernando;
Bellen, Hugo J.;
Wangler, Michael F.

Publication type:

Article

Recessive NEK9 mutation causes a lethal skeletal dysplasia with evidence of cell cycle and ciliary defects.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1824, doi. 10.1093/hmg/ddw054

By:

Casey, Jillian P.;
Brennan, Kieran;
Scheidel, Noemie;
McGettigan, Paul;
Lavin, Paul T.;
Carter, Stephen;
Ennis, Sean;
Dorkins, Huw;
Ghali, Neeti;
Blacque, Oliver E.;
Mc Gee, Margaret M.;
Murphy, Helen;
Lynch, Sally Ann

Publication type:

Article

Poly-dipeptides encoded by the C9ORF72 repeats block global protein translation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1803, doi. 10.1093/hmg/ddw052

By:

Kohsuke Kanekura;
Takuya Yagi;
Cammack, Alexander J.;
Mahadevan, Jana;
Masahiko Kuroda;
Harms, Matthew B.;
Miller, Timothy M.;
Urano, Fumihiko

Publication type:

Article

SLC52A3, A Brown-Vialetto-van Laere syndrome candidate gene is essential for mouse development, but dispensable for motor neuron differentiation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1814, doi. 10.1093/hmg/ddw053

By:

Intoh, Atsushi;
Suzuki, Naoki;
Koszka, Kathryn;
Eggan, Kevin

Publication type:

Article

Mitochondrial targeting of XJB-5-131 attenuates or improves pathophysiology in HdhQ150 animals with well-developed disease phenotypes.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1792, doi. 10.1093/hmg/ddw051

By:

Polyzos, Aris;
Holt, Amy;
Brown, Christopher;
Cosme, Celica;
Wipf, Peter;
Gomez-Marin, Alex;
Castro, Maríadel R.;
Ayala-Peña, Sylvette;
McMurray, Cynthia T.

Publication type:

Article

Motor deficits associated with Huntington's disease occur in the absence of striatal degeneration in BACHD transgenic mice.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1780, doi. 10.1093/hmg/ddw050

By:

Mantovani, Susanna;
Gordon, Richard;
Rui Li;
Christie, Daniel C.;
Kumar, Vinod;
Woodruff, Trent M.

Publication type:

Article

The handedness-associated PCSK6 locus spans an intronic promoter regulating novel transcripts.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1771, doi. 10.1093/hmg/ddw047

By:

Shore, Robert;
Covill, Laura;
Pettigrew, Kerry A.;
Brandler, William M.;
Diaz, Rebeca;
Yiwang Xu;
Tello, Javier A.;
Talcott, Joel B.;
Newbury, Dianne F.;
Stein, John;
Monaco, Anthony P.;
Paracchini, Silvia

Publication type:

Article

Defining functional classes of Barth syndrome mutation in humans.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1754, doi. 10.1093/hmg/ddw046

By:

Ya-Wen Lu;
Galbraith, Laura;
Herndon, Jenny D.;
Ya-Lin Lu;
Pras-Raves, Mia;
Vervaart, Martin;
Van Kampen, Antoine;
Luyf, Angela;
Koehler, Carla M.;
McCaffery, J. Michael;
Gottlieb, Eyal;
Vaz, Frederic M.;
Claypool, Steven M.

Publication type:

Article

Mitochondria-targeted molecules MitoQ and SS31 reduce mutant huntingtin-induced mitochondrial toxicity and synaptic damage in Huntington's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1739, doi. 10.1093/hmg/ddw045

By:

Xiangling Yin;
Manczak, Maria;
Reddy, P. Hemachandra

Publication type:

Article

Tissue-specific models of spinal muscular atrophy confirm a critical role of SMN in motor neurons from embryonic to adult stages.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1728, doi. 10.1093/hmg/ddw044

By:

Laird, Angela S.;
Mackovski, Nikolce;
Rinkwitz, Silke;
Becker, Thomas S.;
Giacomotto, Jean

Publication type:

Article

Global hypermethylation in fetal cortex of Down syndrome due to DNMT3L overexpression.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1714, doi. 10.1093/hmg/ddw043

By:

Jie Lu;
Mccarter, Monika;
Lian, Gewei;
Esposito, Giuseppe;
Capoccia, Elena;
Delli-Bovi, Laurent C.;
Hecht, Jonathan;
Sheen, Volney

Publication type:

Article

NF1 germline mutation differentially dictates optic glioma formation and growth in neurofibromatosis-1.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1703, doi. 10.1093/hmg/ddw039

By:

Toonen, Joseph A.;
Anastasaki, Corina;
Smithson, Laura J.;
Gianino, Scott M.;
Kairong Li;
Kesterson, Robert A.;
Gutmann, David H.

Publication type:

Article

Acute and crucial requirement for MeCP2 function upon transition from early to late adult stages of brain maturation.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1690, doi. 10.1093/hmg/ddw038

By:

Fang Du;
Nguyen, Minh Vu Chuong;
Karten, Ariel;
Felice, Christy A.;
Mandel, Gail;
Ballas, Nurit

Publication type:

Article

αB-Crystallin overexpression in astrocytes modulates the phenotype of the BACHD mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2016, v. 25, n. 9, p. 1677, doi. 10.1093/hmg/ddw028

By:

Oliveira, Ana Osório;
Osmand, Alexander;
Outeiro, Tiago Fleming;
Muchowski, Paul Joseph;
Finkbeiner, Steven

Publication type:

Article