Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 10

Results: 14

Open chromatin profiling of human postmortem brain infers functional roles for non-coding schizophrenia loci.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1942, doi. 10.1093/hmg/ddx103

By:

Fullard, John F.;
Giambartolomei, Claudia;
Hauberg, Mads E.;
Ke Xu;
Voloudakis, Georgios;
Zhiping Shao;
Bare, Christopher;
Dudley, Joel T.;
Mattheisen, Manuel;
Robakis, Nikolaos K.;
Haroutunian, Vahram;
Roussos, Panos

Publication type:

Article

Mutations in XLF/NHEJ1/Cernunnos gene results in downregulation of telomerase genes expression and telomere shortening.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1900, doi. 10.1093/hmg/ddx098

By:

Carrillo, Jaime;
Calvete, Oriol;
Pintado-Berninches, Laura;
Manguan-García, Cristina;
Navarro, Julian Sevilla;
Arias-Salgado, Elena G.;
Sastre, Leandro;
Guenechea, Guillermo;
Granados, Eduardo López;
de Villartay, Jean-Pierre;
Revy, Patrick;
Benitez, Javier;
Perona, Rosario

Publication type:

Article

Downregulation of pathways implicated in liver inflammation and tumorigenesis of glycogen storage disease type Ia mice receiving gene therapy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1890, doi. 10.1093/hmg/ddx097

By:

Goo-Young Kim;
Joon Hyun Kwon;
Jun-Ho Cho;
Zhang, Lisa;
Mansfield, Brian C.;
Chou, Janice Y.

Publication type:

Article

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1927, doi. 10.1093/hmg/ddx102

By:

Ling Zhang;
Jingmin Wang;
Cheng Zhang;
Dongxiao Li;
Carvalho, Claudia M. B.;
Haoran Ji;
Jianqiu Xiao;
Ye Wu;
Weichen Zhou;
Hongyan Wang;
Li Jin;
Yang Luo;
Xiru Wu;
Lupski, James R.;
Feng Zhang;
Yuwu Jiang

Publication type:

Article

Sirt3 protects dopaminergic neurons from mitochondrial oxidative stress.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1915, doi. 10.1093/hmg/ddx100

By:

Han Shi;
Han-Xiang Deng;
Gius, David;
Schumacker, Paul T.;
Surmeier, D. James;
Yong-Chao Ma

Publication type:

Article

A critical role of Hrd1 in the regulation of optineurin degradation and aggresome formation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1877, doi. 10.1093/hmg/ddx096

By:

Jiahui Mao;
Qin Xia;
Chunfeng Liu;
Zheng Ying;
Hongfeng Wang;
Guanghui Wang

Publication type:

Article

Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1863, doi. 10.1093/hmg/ddx090

By:

Brookes, Steven J.;
Barron, Martin J.;
Smith, Claire E. L.;
Poulter, James A.;
Mighell, Alan J.;
Inglehearn, Chris F.;
Brown, Catriona J.;
Rodd, Helen;
Kirkham, Jennifer;
Dixon, Michael J.

Publication type:

Article

Genetic absence of ALOX5 protects from homocysteineinduced memory impairment, tau phosphorylation and synaptic pathology.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1855, doi. 10.1093/hmg/ddx088

By:

Jian-Guo Li;
Barrero, Carlos;
Merali, Salim;
Praticò, Domenico

Publication type:

Article

Genome-wide association study of iron traits and relation to diabetes in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL): potential genomic intersection of iron and glucose regulation?

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1966, doi. 10.1093/hmg/ddx082

By:

Raffield, Laura M.;
Louie, Tin;
Sofer, Tamar;
Jain, Deepti;
Ipp, Eli;
Taylor, Kent D.;
Papanicolaou, George J.;
Avilés-Santa, Larissa;
Lange, Leslie A.;
Laurie, Cathy C.;
Conomos, Matthew P.;
Thornton, Timothy A.;
Chen, Yii-Der Ida;
Qi, Qibin;
Cotler, Scott;
Thyagarajan, Bharat;
Schneiderman, Neil;
Rotter, Jerome I.;
Reiner, Alex P.;
Lin, Henry J.

Publication type:

Article

Muscle-specific expression of the RNA-binding protein Staufen1 induces progressive skeletal muscle atrophy via regulation of phosphatase tensin homolog.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1821, doi. 10.1093/hmg/ddx085

By:

Parks, Tara E. Crawford;
Ravel-Chapuis, Aymeric;
Bondy-Chorney, Emma;
Renaud, Jean-Marc;
Côté, Jocelyn;
Jasmin, Bernard J.

Publication type:

Article

Testing the Ret and Sema3d genetic interaction in mouse enteric nervous system development.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1811, doi. 10.1093/hmg/ddx084

By:

Kapoor, Ashish;
Auer, Dallas R.;
Lee, Dongwon;
Chatterjee, Sumantra;
Chakravarti, Aravinda

Publication type:

Article

PDGFRB gain-of-function mutations in sporadic infantile myofibromatosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1801, doi. 10.1093/hmg/ddx081

By:

Arts, Florence A.;
Sciot, Raf;
Brichard, Bénédicte;
Renard, Marleen;
de Rocca Serra, Audrey;
Dachy, Guillaume;
Noël, Laura A.;
Velghe, Amélie I.;
Galant, Christine;
Debiec-Rychter, Maria;
Van Damme, An;
Vikkula, Miikka;
Helaers, Raphaël;
Limaye, Nisha;
Poirel, Hélène A.;
Demoulin, Jean-Baptiste

Publication type:

Article

PNPLA1 defects in patients with autosomal recessive congenital ichthyosis and KO mice sustain PNPLA1 irreplaceable function in epidermal omega-Oacylceramide synthesis and skin permeability barrier.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1787, doi. 10.1093/hmg/ddx079

By:

Pichery, Mélanie;
Huchenq, Anne;
Sandhoff, Roger;
Severino-Freire, Maella;
Zaafouri, Sarra;
Opálka, Lukáš;
Levade, Thierry;
Soldan, Vanessa;
Bertrand-Michel, Justine;
Lhuillier, Emeline;
Serre, Guy;
Maruani, Annabel;
Mazereeuw-Hautier, Juliette;
Jonca, Nathalie

Publication type:

Article

AAV-mediated transfer of FKRP shows therapeutic efficacy in a murine model but requires control of gene expression.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 10, p. 1952, doi. 10.1093/hmg/ddx066

By:

Gicquel, Evelyne;
Maizonnier, Natacha;
Foltz, Steven J.;
Martin, William J.;
Bourg, Nathalie;
Svinartchouk, Fedor;
Charton, Karine;
Beedle, Aaron M.;
Richard, Isabelle

Publication type:

Article