Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 17

Results: 21

Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3415, doi. 10.1093/hmg/ddt191

By:

Farooq, Faraz;
Abadía-Molina, Francisco;
MacKenzie, Duncan;
Hadwen, Jeremiah;
Shamim, Fahad;
O'Reilly, Sean;
Holcik, Martin;
MacKenzie, Alex

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 17, p. NP, doi. 10.1093/hmg/ddt388
Publication type:: Article

In vitro-differentiated neural cell cultures progress towards donor-identical brain tissue.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3534, doi. 10.1093/hmg/ddt208

By:

Hjelm, Brooke E.;
Salhia, Bodour;
Kurdoglu, Ahmet;
Szelinger, Szabolcs;
Reiman, Rebecca A.;
Sue, Lucia I.;
Beach, Thomas G.;
Huentelman, Matthew J.;
Craig, David W.

Publication type:

Article

Enhanced optineurin E50K–TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3559, doi. 10.1093/hmg/ddt210

By:

Minegishi, Yuriko;
Iejima, Daisuke;
Kobayashi, Hiroaki;
Chi, Zai-Long;
Kawase, Kazuhide;
Yamamoto, Tetsuya;
Seki, Tomohisa;
Yuasa, Shinsuke;
Fukuda, Keiichi;
Iwata, Takeshi

Publication type:

Article

Progressive impairment of muscle regeneration in muscleblind-like 3 isoform knockout mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3547, doi. 10.1093/hmg/ddt209

By:

Poulos, Michael G.;
Batra, Ranjan;
Li, Moyi;
Yuan, Yuan;
Zhang, Chaolin;
Darnell, Robert B.;
Swanson, Maurice S.

Publication type:

Article

Hypothalamic expression of mutant huntingtin contributes to the development of depressive-like behavior in the BAC transgenic mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3485, doi. 10.1093/hmg/ddt203

By:

Hult Lundh, Sofia;
Nilsson, Nathalie;
Soylu, Rana;
Kirik, Deniz;
Petersén, Åsa

Publication type:

Article

A novel function of Ataxin-1 in the modulation of PP2A activity is dysregulated in the spinocerebellar ataxia type 1.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3425

By:

Sánchez, Ivelisse;
Piñol, Patricia;
Corral-Juan, Marc;
Pandolfo, Massimo;
Matilla-Dueñas, Antoni

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 17, p. NP, doi. 10.1093/hmg/ddt389
Publication type:: Article

Efficacy of N-acetylcysteine in phenotypic suppression of mouse models of Niemann–Pick disease, type C1.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3508, doi. 10.1093/hmg/ddt206

By:

Fu, Rao;
Wassif, Christopher A.;
Yanjanin, Nicole M.;
Watkins-Chow, Dawn E.;
Baxter, Laura L.;
Incao, Art;
Liscum, Laura;
Sidhu, Rohini;
Firnkes, Sally;
Graham, Mark;
Ory, Daniel S.;
Porter, Forbes D.;
Pavan, William J.

Publication type:

Article

Genome-wide analysis of BMI in adolescents and young adults reveals additional insight into the effects of genetic loci over the life course.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3597

By:

Graff, Mariaelisa;
Ngwa, Julius S.;
Workalemahu, Tsegaselassie;
Homuth, Georg;
Schipf, Sabine;
Teumer, Alexander;
Völzke, Henry;
Wallaschofski, Henri;
Abecasis, Goncalo R.;
Edward, Lakatta;
Francesco, Cucca;
Sanna, Serena;
Scheet, Paul;
Schlessinger, David;
Sidore, Carlo;
Xiao, Xiangjun;
Wang, Zhaoming;
Chanock, Stephen J.;
Jacobs, Kevin B.;
Hayes, Richard B.

Publication type:

Article

Whole-exome sequencing identifies ADAM10 mutations as a cause of reticulate acropigmentation of Kitamura, a clinical entity distinct from Dowling-Degos disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3524, doi. 10.1093/hmg/ddt207

By:

Kono, Michihiro;
Sugiura, Kazumitsu;
Suganuma, Mutsumi;
Hayashi, Masahiro;
Takama, Hiromichi;
Suzuki, Tamio;
Matsunaga, Kayoko;
Tomita, Yasushi;
Akiyama, Masashi

Publication type:

Article

APP/PS1 mice overexpressing SREBP-2 exhibit combined Aβ accumulation and tau pathology underlying Alzheimer's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3460, doi. 10.1093/hmg/ddt201

By:

Barbero-Camps, Elisabet;
Fernández, Anna;
Martínez, Laura;
Fernández-Checa, Jose C.;
Colell, Anna

Publication type:

Article

Venous malformation-causative TIE2 mutations mediate an AKT-dependent decrease in PDGFB.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3438, doi. 10.1093/hmg/ddt198

By:

Uebelhoer, Melanie;
Nätynki, Marjut;
Kangas, Jaakko;
Mendola, Antonella;
Nguyen, Ha-Long;
Soblet, Julie;
Godfraind, Catherine;
Boon, Laurence M.;
Eklund, Lauri;
Limaye, Nisha;
Vikkula, Miikka

Publication type:

Article

The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3583

By:

Urbanek, Margrit;
Hayes, M. Geoffrey;
Armstrong, Loren L.;
Morrison, Jean;
Lowe, Lynn P.;
Badon, Sylvia E.;
Scheftner, Doug;
Pluzhnikov, Anna;
Levine, David;
Laurie, Cathy C.;
McHugh, Caitlin;
Ackerman, Christine M.;
Mirel, Daniel B.;
Doheny, Kimberly F.;
Guo, Cong;
Scholtens, Denise M.;
Dyer, Alan R.;
Metzger, Boyd E.;
Reddy, Timothy E.;
Cox, Nancy J.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 17, p. NP, doi. 10.1093/hmg/ddt391
Publication type:: Article

Missense mutation in mouse GALC mimics human gene defect and offers new insights into Krabbe disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3397, doi. 10.1093/hmg/ddt190

By:

Potter, Gregory B.;
Santos, Marta;
Davisson, Muriel T.;
Rowitch, David H.;
Marks, Dan L.;
Bongarzone, Ernesto R.;
Petryniak, Magdalena A.

Publication type:

Article

Functional implications of splicing polymorphisms in the human genome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3449, doi. 10.1093/hmg/ddt200

By:

Kurmangaliyev, Yerbol Z.;
Sutormin, Roman A.;
Naumenko, Sergey A.;
Bazykin, Georgii A.;
Gelfand, Mikhail S.

Publication type:

Article

Dyskeratosis congenita mutations in dyskerin SUMOylation consensus sites lead to impaired telomerase RNA accumulation and telomere defects.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3498, doi. 10.1093/hmg/ddt204

By:

Brault, Marie Eve;
Lauzon, Catherine;
Autexier, Chantal

Publication type:

Article

Bcl6a function is required during optic cup formation to prevent p53-dependent apoptosis and colobomata.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3568, doi. 10.1093/hmg/ddt211

By:

Lee, Jiwoon;
Lee, Bum-Kyu;
Gross, Jeffrey M.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 17, p. NP, doi. 10.1093/hmg/ddt390
Publication type:: Article

PGC-1α is a male-specific disease modifier of human and experimental amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 17, p. 3477, doi. 10.1093/hmg/ddt202

By:

Eschbach, Judith;
Schwalenstöcker, Birgit;
Soyal, Selma M.;
Bayer, Hanna;
Wiesner, Diana;
Akimoto, Chizuru;
Nilsson, Ann-Charloth;
Birve, Anna;
Meyer, Thomas;
Dupuis, Luc;
Danzer, Karin M.;
Andersen, Peter M.;
Witting, Anke;
Ludolph, Albert C.;
Patsch, Wolfgang;
Weydt, Patrick

Publication type:

Article