Works matching IS 09646906 AND DT 2017 AND VI 26 AND IP 21

Results: 19

Exome-wide association study reveals novel psoriasis susceptibility locus at TNFSF15 and rare protective alleles in genes contributing to type I IFN signalling.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4301, doi. 10.1093/hmg/ddx328

By:

Dand, Nick;
Mucha, Sören;
Tsoi, Lam C.;
Mahil, Satveer K.;
Stuart, Philip E.;
Arnold, Andreas;
Baurecht, Hansjörg;
Burden, A. David;
Duffin, Kristina Callis;
Chandran, Vinod;
Curtis, Charles J.;
Barker, Jonathan N.

Publication type:

Article

Treacher Collins syndrome mutations in Saccharomyces cerevisiae destabilize RNA polymerase I and III complex integrity.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4290, doi. 10.1093/hmg/ddx317

By:

Walker-Kopp, Nancy;
Jackobel, Ashleigh J.;
Pannafino, Gianno N.;
Morocho, Paola A.;
Xia Xu;
Knutson, Bruce A.

Publication type:

Article

Retracted: Elevated NADPH oxidase activity contributes to oxidative stress and cell death in Huntington's disease.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4314, doi. 10.1093/hmg/ddx303

By:

Valencia, Antonio;
Sapp, Ellen;
Kimm, Jeffrey S.;
McClory, Hollis;
Reeves, Patrick B.;
Alexander, Jonathan;
Ansong, Kwadwo A.;
Masso, Nicholas;
Frosch, Matthew P.;
Kegel, Kimberly B.;
Xueyi Li;
DiFiglia, Marian

Publication type:

Article

IKKβ and mutant huntingtin interactions regulate the expression of IL-34: implications for microglialmediated neurodegeneration in HD.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4267, doi. 10.1093/hmg/ddx315

By:

Khoshnan, Ali;
Sabbaugh, Adam;
Calamini, Barbara;
Marinero, Steven A.;
Dunn, Denise E.;
Jung Hyun Yoo;
Jan Ko;
Lo, Donald C.;
Patterson, Paul H.

Publication type:

Article

DARS2 protects against neuroinflammation and apoptotic neuronal loss, but is dispensable for myelin producing cells.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4181, doi. 10.1093/hmg/ddx307

By:

Aradjanski, Marijana;
Dogan, Sukru Anil;
Lotter, Stephan;
Shuaiyu Wang;
Hermans, Steffen;
Wibom, Rolf;
Rugarli, Elena;
Trifunovic, Aleksandra

Publication type:

Article

Zebrafish cdc6 hypomorphic mutation causes Meier-Gorlin syndrome-like phenotype.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4168, doi. 10.1093/hmg/ddx305

By:

Likun Yao;
Jing Chen;
Xiaotong Wu;
Shunji Jia;
Anming Meng

Publication type:

Article

Homeostatic plasticity can be induced and expressed to restore synaptic strength at neuromuscular junctions undergoing ALS-related degeneration.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4153, doi. 10.1093/hmg/ddx304

By:

Perry, Sarah;
Yifu Han;
Das, Anushka;
Dickman, Dion

Publication type:

Article

Identification of a novel synaptic protein, TMTC3, involved in periventricular nodular heterotopia with intellectual disability and epilepsy.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4278, doi. 10.1093/hmg/ddx316

By:

Farhan, Sali M. K.;
Nixon, Kevin C. J.;
Everest, Michelle;
Edwards, Tara N.;
Long, Shirley;
Segal, Dmitri;
Knip, Maria J.;
Arts, Heleen H.;
Chakrabarti, Rana;
Jian Wang;
Robinson, John F.;
Lee, Donald;
Mirsattari, Seyed M.;
Rupar, C. Anthony;
Siu, Victoria M.;
Poulter, Michael O.;
Hegele, Robert A.;
Kramer, Jamie M.

Publication type:

Article

Dysregulation of chromatin remodelling complexes in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4142, doi. 10.1093/hmg/ddx301

By:

Tibshirani, Michael;
Zhao, Beibei;
Gentil, Benoit J.;
Minotti, Sandra;
Marques, Christine;
Keith, Julia;
Rogaeva, Ekaterina;
Zinman, Lorne;
Rouaux, Caroline;
Robertson, Janice;
Durham, Heather D.

Publication type:

Article

Defective mitochondrial rRNA methyltransferase MRM2 causes MELAS-like clinical syndrome.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4257, doi. 10.1093/hmg/ddx314

By:

Garone, Caterina;
D'Souza, Aaron R.;
Dallabona, Cristina;
Lodi, Tiziana;
Rebelo-Guiomar, Pedro;
Rorbach, Joanna;
Donati, Maria Alice;
Procopio, Elena;
Montomoli, Martino;
Guerrini, Renzo;
Zeviani, Massimo;
Calvo, Sarah E.;
Mootha, Vamsi K.;
DiMauro, Salvatore;
Ferrero, Ileana;
Minczuk, Michal

Publication type:

Article

Non-random length distribution of individual telomeres in immunodeficiency, centromeric instability and facial anomalies syndrome, type I.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4244, doi. 10.1093/hmg/ddx313

By:

Sagie, Shira;
Edni, Omer;
Weinberg, Joseph;
Toubiana, Shir;
Kozlovski, Tal;
Frostig, Tzviel;
Katzin, Nirit;
Bar-Am, Irit;
Selig, Sara

Publication type:

Article

Cell identity bookmarking through heterogeneous chromatin landscape maintenance during the cell cycle.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4231, doi. 10.1093/hmg/ddx312

By:

Huaibing Luo;
Yanping Xi;
Wei Li;
Jin Li;
Yan Li;
Shihua Dong;
Lina Peng;
Yaping Liu;
Wenqiang Yu

Publication type:

Article

The Prader-Willi syndrome proteins MAGEL2 and necdin regulate leptin receptor cell surface abundance through ubiquitination pathways.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4215, doi. 10.1093/hmg/ddx311

By:

Wijesuriya, Tishani Methsala;
De Ceuninck, Leentje;
Masschaele, Delphine;
Sanderson, Matthea R.;
Carias, Karin Vanessa;
Tavernier, Jan;
Wevrick, Rachel

Publication type:

Article

Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4203, doi. 10.1093/hmg/ddx310

By:

Stäubli, Andrina;
Capatina, Nadejda;
Fuhrer, Yvonne;
Munier, Francis L.;
Labs, Stephan;
Schorderet, Daniel F.;
Tiwari, Amit;
Verrey, Francois;
Heon, Elise;
Ching-Yu Cheng;
Tien-Yin Wong;
Berger, Wolfgang;
Camargo, Simone M. R.;
Kloeckener-Gruissem, Barbara

Publication type:

Article

Liver cyst gene knockout in cholangiocytes inhibits cilium formation and Wnt signaling.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4190, doi. 10.1093/hmg/ddx308

By:

Wills, Edgar S.;
te Morsche, René H. M.;
van Reeuwijk, Jeroen;
Horn, Nicola;
Geomini, Iris;
de Laarschot, Liyanne F. M. van;
Mans, Dorus A.;
Ueffing, Marius;
Boldt, Karsten;
Drenth, Joost P. H.;
Roepman, Ronald

Publication type:

Article

MeCP2_E1 N-terminal modifications affect its degradation rate and are disrupted by the Ala2Val Rett mutation.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4132, doi. 10.1093/hmg/ddx300

By:

Sheikh, Taimoor I.;
Martínez de Paz, Alexia;
Akhtar, Shamim;
Ausió, Juan;
Vincent, John B.

Publication type:

Article

Inhibition of mitochondrial fragmentation protects against Alzheimer's disease in rodent model.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4118, doi. 10.1093/hmg/ddx299

By:

Wenzhang Wang;
Jun Yin;
Xiaopin Ma;
Fanpeng Zhao;
Siedlak, Sandra L.;
Zhenlian Wang;
Torres, Sandy;
Hisashi Fujioka;
Ying Xu;
Perry, George;
Xiongwei Zhu

Publication type:

Article

The NAD<sup>+</sup>-dependent deacetylase SIRT2 attenuates oxidative stress and mitochondrial dysfunction and improves insulin sensitivity in hepatocytes.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4105, doi. 10.1093/hmg/ddx298

By:

Lemos, Vera;
de Oliveira, Rita M.;
Naia, Luana;
Szegö, Éva;
Ramos, Elisabete;
Pinho, Sônia;
Magro, Fernando;
Cavadas, Cláudia;
Rego, A. Cristina;
Costa, Vítor;
Outeiro, Tiago F.;
Gomes, Pedro

Publication type:

Article

Loss of ADAMTS3 activity causes Hennekam lymphangiectasia--lymphedema syndrome 3.

Published in:

Human Molecular Genetics, 2017, v. 26, n. 21, p. 4095, doi. 10.1093/hmg/ddx297

By:

Brouillard, Pascal;
Dupont, Laura;
Helaers, Raphael;
Coulie, Richard;
Tiller, George E.;
Peeden, Joseph;
Colige, Alain;
Vikkula, Miikka

Publication type:

Article