Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 25

Results: 23

WT1 regulates the expression of inhibitory chemokines during heart development.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5083, doi. 10.1093/hmg/ddt358

By:

Velecela, Victor;
Lettice, Laura A.;
Chau, You-Ying;
Slight, Joan;
Berry, Rachel L.;
Thornburn, Anna;
Gunst, Quinn D.;
van den Hoff, Maurice;
Reina, Manuel;
Martínez, Fernando O.;
Hastie, Nicholas D.;
Martínez-Estrada, Ofelia M.

Publication type:

Article

Epigenetic regulation of COL15A1 in smooth muscle cell replicative aging and atherosclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5107, doi. 10.1093/hmg/ddt365

By:

Connelly, Jessica J.;
Cherepanova, Olga A.;
Doss, Jennifer F.;
Karaoli, Themistoclis;
Lillard, Travis S.;
Markunas, Christina A.;
Nelson, Sarah;
Wang, Tianyuan;
Ellis, Peter D.;
Langford, Cordelia F.;
Haynes, Carol;
Seo, David M.;
Goldschmidt-Clermont, Pascal J.;
Shah, Svati H.;
Kraus, William E.;
Hauser, Elizabeth R.;
Gregory, Simon G.

Publication type:

Article

Subnormal levels of POLγA cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5295, doi. 10.1093/hmg/ddt491

By:

Roos, Sara;
Macao, Bertil;
Fusté, Javier Miralles;
Lindberg, Christopher;
Jemt, Elisabeth;
Holme, Elisabeth;
Moslemi, Ali-Reza;
Oldfors, Anders;
Falkenberg, Maria

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt606
Publication type:: Article

Length-dependent CTG·CAG triplet-repeat expansion in myotonic dystrophy patient-derived induced pluripotent stem cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5276

By:

Du, Jintang;
Campau, Erica;
Soragni, Elisabetta;
Jespersen, Christine;
Gottesfeld, Joel M.

Publication type:

Article

CDK6 associates with the centrosome during mitosis and is mutated in a large Pakistani family with primary microcephaly.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5199, doi. 10.1093/hmg/ddt374

By:

Hussain, Muhammad S.;
Baig, Shahid M.;
Neumann, Sascha;
Peche, Vivek S.;
Szczepanski, Sandra;
Nürnberg, Gudrun;
Tariq, Muhammad;
Jameel, Muhammad;
Khan, Tahir N.;
Fatima, Ambrin;
Malik, Naveed A.;
Ahmad, Ilyas;
Altmüller, Janine;
Frommolt, Peter;
Thiele, Holger;
Höhne, Wolfgang;
Yigit, Gökhan;
Wollnik, Bernd;
Neubauer, Bernd A.;
Nürnberg, Peter

Publication type:

Article

Genome-wide association study identifies ZFHX1B as a susceptibility locus for severe myopia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5288

By:

Khor, Chiea Chuen;
Miyake, Masahiro;
Chen, Li Jia;
Shi, Yi;
Barathi, Veluchamy A.;
Qiao, Fan;
Nakata, Isao;
Yamashiro, Kenji;
Zhou, Xin;
Tam, Pancy O.S.;
Cheng, Ching-Yu;
Tai, E Shyong;
Vithana, Eranga N.;
Aung, Tin;
Teo, Yik-Ying;
Wong, Tien-Yin;
Moriyama, Muka;
Ohno-Matsui, Kyoko;
Mochizuki, Manabu;
Matsuda, Fumihiko

Publication type:

Article

Disease-associated MRE11 mutants impact ATM/ATR DNA damage signaling by distinct mechanisms.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5146, doi. 10.1093/hmg/ddt368

By:

Regal, Joshua A.;
Festerling, Todd A.;
Buis, Jeffrey M.;
Ferguson, David O.

Publication type:

Article

Full-length PGC-1α salvages the phenotype of a mouse model of human neuropathy through mitochondrial proliferation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5096, doi. 10.1093/hmg/ddt359

By:

Rona-Voros, Krisztina;
Eschbach, Judith;
Vernay, Aurélia;
Wiesner, Diana;
Schwalenstocker, Birgit;
Geniquet, Pauline;
Mousson De Camaret, Bénédicte;
Echaniz-Laguna, Andoni;
Loeffler, Jean-Philippe;
Ludolph, Albert C.;
Weydt, Patrick;
Dupuis, Luc

Publication type:

Article

The lysosomal inhibitor, chloroquine, increases cell surface BMPR-II levels and restores BMP9 signalling in endothelial cells harbouring BMPR-II mutations.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5296, doi. 10.1093/hmg/ddt492

By:

Dunmore, Benjamin J.;
Drake, Kylie M.;
Upton, Paul D.;
Toshner, Mark R.;
Aldred, Micheala A.;
Morrell, Nicholas W.

Publication type:

Article

Quantification of shape and cell polarity reveals a novel mechanism underlying malformations resulting from related FGF mutations during facial morphogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5160, doi. 10.1093/hmg/ddt369

By:

Li, Xin;
Young, Nathan M.;
Tropp, Stephen;
Hu, Diane;
Xu, Yanhua;
Hallgrímsson, Benedikt;
Marcucio, Ralph S.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt605
Publication type:: Article

A defective Krab-domain zinc-finger transcription factor contributes to altered myogenesis in myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5188, doi. 10.1093/hmg/ddt373

By:

Gauthier, Morgane;
Marteyn, Antoine;
Denis, Jérôme Alexandre;
Cailleret, Michel;
Giraud-Triboult, Karine;
Aubert, Sophie;
Lecuyer, Camille;
Marie, Joelle;
Furling, Denis;
Vernet, Rémi;
Yanguas, Clara;
Baldeschi, Christine;
Pietu, Geneviève;
Peschanski, Marc;
Martinat, Cécile

Publication type:

Article

Myc inhibition impairs autophagosome formation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5237, doi. 10.1093/hmg/ddt381

By:

Toh, Pearl P. C.;
Luo, Shouqing;
Menzies, Fiona M.;
Raskó, Tamás;
Wanker, Erich E.;
Rubinsztein, David C.

Publication type:

Article

Congenital myopathy is caused by mutation of HACD1.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5229, doi. 10.1093/hmg/ddt380

By:

Muhammad, Emad;
Reish, Orit;
Ohno, Yusuke;
Scheetz, Todd;
DeLuca, Adam;
Searby, Charles;
Regev, Miriam;
Benyamini, Lilach;
Fellig, Yakov;
Kihara, Akio;
Sheffield, Val C.;
Parvari, Ruti

Publication type:

Article

Vps33b pathogenic mutations preferentially affect VIPAS39/SPE-39-positive endosomes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5215, doi. 10.1093/hmg/ddt378

By:

Tornieri, Karine;
Zlatic, Stephanie A.;
Mullin, Ariana P.;
Werner, Erica;
Harrison, Robert;
L'Hernault, Steven W.;
Faundez, Victor

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt608
Publication type:: Article

Non-exomic and synonymous variants in ABCA4 are an important cause of Stargardt disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5136, doi. 10.1093/hmg/ddt367

By:

Braun, Terry A.;
Mullins, Robert F.;
Wagner, Alex H.;
Andorf, Jeaneen L.;
Johnston, Rebecca M.;
Bakall, Benjamin B.;
Deluca, Adam P.;
Fishman, Gerald A.;
Lam, Byron L.;
Weleber, Richard G.;
Cideciyan, Artur V.;
Jacobson, Samuel G.;
Sheffield, Val C.;
Tucker, Budd A.;
Stone, Edwin M.

Publication type:

Article

A comprehensive molecular study on Coffin–Siris and Nicolaides–Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5121, doi. 10.1093/hmg/ddt366

By:

Wieczorek, Dagmar;
Bögershausen, Nina;
Beleggia, Filippo;
Steiner-Haldenstätt, Sabine;
Pohl, Esther;
Li, Yun;
Milz, Esther;
Martin, Marcel;
Thiele, Holger;
Altmüller, Janine;
Alanay, Yasemin;
Kayserili, Hülya;
Klein-Hitpass, Ludger;
Böhringer, Stefan;
Wollstein, Andreas;
Albrecht, Beate;
Boduroglu, Koray;
Caliebe, Almuth;
Chrzanowska, Krystyna;
Cogulu, Ozgur

Publication type:

Article

A GAA repeat expansion reporter model of Friedreich's ataxia recapitulates the genomic context and allows rapid screening of therapeutic compounds.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5173, doi. 10.1093/hmg/ddt370

By:

Lufino, Michele M.P.;
Silva, Ana M.;
Németh, Andrea H.;
Alegre-Abarrategui, Javier;
Russell, Angela J.;
Wade-Martins, Richard

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 25, p. NP, doi. 10.1093/hmg/ddt607
Publication type:: Article

Impaired amino acid metabolism contributes to fasting-induced hypoglycemia in fatty acid oxidation defects.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5249, doi. 10.1093/hmg/ddt382

By:

Houten, Sander M.;
Herrema, Hilde;
te Brinke, Heleen;
Denis, Simone;
Ruiter, Jos P.N.;
van Dijk, Theo H.;
Argmann, Carmen A.;
Ottenhoff, Roelof;
Müller, Michael;
Groen, Albert K.;
Kuipers, Folkert;
Reijngoud, Dirk-Jan;
Wanders, Ronald J.A.

Publication type:

Article

Armet/Manf and Creld2 are components of a specialized ER stress response provoked by inappropriate formation of disulphide bonds: implications for genetic skeletal diseases.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 25, p. 5262, doi. 10.1093/hmg/ddt383

By:

Hartley, Claire L.;
Edwards, Sarah;
Mullan, Lorna;
Bell, Peter A.;
Fresquet, Maryline;
Boot-Handford, Raymond P.;
Briggs, Michael D.

Publication type:

Article