Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 1

Results: 18

Loss of WNK2 expression by promoter gene methylation occurs in adult gliomas and triggers Rac1-mediated tumour cell invasiveness.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 84, doi. 10.1093/hmg/dds405

By:

Moniz, Sónia;
Martinho, Olga;
Pinto, Filipe;
Sousa, Bárbara;
Loureiro, Cláudia;
Oliveira, Maria José;
Moita, Luís Ferreira;
Honavar, Mrinalini;
Pinheiro, Célia;
Pires, Manuel;
Lopes, José Manuel;
Jones, Chris;
Costello, Joseph F.;
Paredes, Joana;
Reis, Rui Manuel;
Jordan, Peter

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds536
Publication type:: Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds538
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds539
Publication type:: Article

Gene-centric meta-analyses of 108 912 individuals confirm known body mass index loci and reveal three novel signals.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 184

By:

Guo, Yiran;
Lanktree, Matthew B.;
Taylor, Kira C.;
Hakonarson, Hakon;
Lange, Leslie A.;
Keating, Brendan J.

Publication type:

Article

A fully humanized transgenic mouse model of Huntington disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 18, doi. 10.1093/hmg/dds397

By:

Southwell, Amber L.;
Warby, Simon C.;
Carroll, Jeffrey B.;
Doty, Crystal N.;
Skotte, Niels H.;
Zhang, Weining;
Villanueva, Erika B.;
Kovalik, Vlad;
Xie, Yuanyun;
Pouladi, Mahmoud A.;
Collins, Jennifer A.;
Yang, X. William;
Franciosi, Sonia;
Hayden, Michael R.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 1, p. NP, doi. 10.1093/hmg/dds537
Publication type:: Article

Control of epigenetic states by WT1 via regulation of de novo DNA methyltransferase 3A.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 74, doi. 10.1093/hmg/dds403

By:

Szemes, Marianna;
Dallosso, Anthony R.;
Melegh, Zsombor;
Curry, Thomas;
Li, Yifan;
Rivers, Caroline;
Uney, James;
Mägdefrau, Ann-Sophie;
Schwiderski, Karolin;
Park, Ji H.;
Brown, Keith W.;
Shandilya, Jayasha;
Roberts, Stefan G. E.;
Malik, Karim

Publication type:

Article

Mutations in FKBP10, which result in Bruck syndrome and recessive forms of osteogenesis imperfecta, inhibit the hydroxylation of telopeptide lysines in bone collagen.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 1, doi. 10.1093/hmg/dds371

By:

Schwarze, Ulrike;
Cundy, Tim;
Pyott, Shawna M.;
Christiansen, Helena E.;
Hegde, Madhuri R.;
Bank, Ruud A.;
Pals, Gerard;
Ankala, Arunkanth;
Conneely, Karen;
Seaver, Laurie;
Yandow, Suzanne M.;
Raney, Ellen;
Babovic-Vuksanovic, Dusica;
Stoler, Joan;
Ben-Neriah, Ziva;
Segel, Reeval;
Lieberman, Sari;
Siderius, Liesbeth;
Al-Aqeel, Aida;
Hannibal, Mark

Publication type:

Article

l-arginine:glycine amidinotransferase deficiency protects from metabolic syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 110, doi. 10.1093/hmg/dds407

By:

Choe, Chi-un;
Nabuurs, Christine;
Stockebrand, Malte C.;
Neu, Axel;
Nunes, Patricia;
Morellini, Fabio;
Sauter, Kathrin;
Schillemeit, Stefan;
Hermans-Borgmeyer, Irm;
Marescau, Bart;
Heerschap, Arend;
Isbrandt, Dirk

Publication type:

Article

Determining consequences of retinal membrane guanylyl cyclase (RetGC1) deficiency in human Leber congenital amaurosis en route to therapy: residual cone-photoreceptor vision correlates with biochemical properties of the mutants.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 168, doi. 10.1093/hmg/dds421

By:

Jacobson, Samuel G.;
Cideciyan, Artur V.;
Peshenko, Igor V.;
Sumaroka, Alexander;
Olshevskaya, Elena V.;
Cao, Lihui;
Schwartz, Sharon B.;
Roman, Alejandro J.;
Olivares, Melani B.;
Sadigh, Sam;
Yau, King-Wai;
Heon, Elise;
Stone, Edwin M.;
Dizhoor, Alexander M.

Publication type:

Article

Defects in mitochondrial localization and ATP synthesis in the mdx mouse model of Duchenne muscular dystrophy are not alleviated by PDE5 inhibition.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 153, doi. 10.1093/hmg/dds415

By:

Percival, Justin M.;
Siegel, Michael P.;
Knowels, Gary;
Marcinek, David J.

Publication type:

Article

Deletion of Rictor in neural progenitor cells reveals contributions of mTORC2 signaling to tuberous sclerosis complex.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 140, doi. 10.1093/hmg/dds414

By:

Carson, Robert P.;
Fu, Cary;
Winzenburger, Peggy;
Ess, Kevin C.

Publication type:

Article

NPC1 defect results in abnormal platelet formation and function: studies in Niemann–Pick disease type C1 patients and zebrafish.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 61, doi. 10.1093/hmg/dds401

By:

Louwette, Sophie;
Régal, Luc;
Wittevrongel, Christine;
Thys, Chantal;
Vandeweeghde, Gwenny;
Decuyper, Elisa;
Leemans, Peter;
De Vos, Rita;
Van Geet, Chris;
Jaeken, Jaak;
Freson, Kathleen

Publication type:

Article

Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 96, doi. 10.1093/hmg/dds406

By:

Samaco, Rodney C.;
McGraw, Christopher M.;
Ward, Christopher S.;
Sun, Yaling;
Neul, Jeffrey L.;
Zoghbi, Huda Y.

Publication type:

Article

Expression of wild-type human superoxide dismutase-1 in mice causes amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 51, doi. 10.1093/hmg/dds399

By:

Graffmo, Karin S.;
Forsberg, Karin;
Bergh, Johan;
Birve, Anna;
Zetterström, Per;
Andersen, Peter M.;
Marklund, Stefan L.;
Brännström, Thomas

Publication type:

Article

The ciliary Evc/Evc2 complex interacts with Smo and controls Hedgehog pathway activity in chondrocytes by regulating Sufu/Gli3 dissociation and Gli3 trafficking in primary cilia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 124

By:

Caparrós-Martín, Jose A.;
Valencia, María;
Reytor, Edel;
Pacheco, María;
Fernandez, Margarita;
Perez-Aytes, Antonio;
Gean, Esther;
Lapunzina, Pablo;
Peters, Heiko;
Goodship, Judith A.;
Ruiz-Perez, Victor L.

Publication type:

Article

Loss of CRB2 in the mouse retina mimics human retinitis pigmentosa due to mutations in the CRB1 gene.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 1, p. 35, doi. 10.1093/hmg/dds398

By:

Alves, Celso Henrique;
Sanz Sanz, Alicia;
Park, Bokyung;
Pellissier, Lucie P.;
Tanimoto, Naoyuki;
Beck, Susanne C.;
Huber, Gesine;
Murtaza, Mariyam;
Richard, Fabrice;
Sridevi Gurubaran, Iswariyaraja;
Garcia Garrido, Marina;
Levelt, Christiaan N.;
Rashbass, Penny;
Le Bivic, André;
Seeliger, Mathias W.;
Wijnholds, Jan

Publication type:

Article