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
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
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
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
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
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
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
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