Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 23

Results: 21

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 23, p. NP, doi. 10.1093/hmg/ddt563
Publication type:: Article

Mutations in the 3′ untranslated region of FUS causing FUS overexpression are associated with amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4748, doi. 10.1093/hmg/ddt328

By:

Sabatelli, Mario;
Moncada, Alice;
Conte, Amelia;
Lattante, Serena;
Marangi, Giuseppe;
Luigetti, Marco;
Lucchini, Matteo;
Mirabella, Massimiliano;
Romano, Angela;
Del Grande, Alessandra;
Bisogni, Giulia;
Doronzio, Paolo Niccolo';
Rossini, Paolo Maria;
Zollino, Marcella

Publication type:

Article

The UPF3B gene, implicated in intellectual disability, autism, ADHD and childhood onset schizophrenia regulates neural progenitor cell behaviour and neuronal outgrowth.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4673, doi. 10.1093/hmg/ddt315

By:

Jolly, Lachlan A.;
Homan, Claire C.;
Jacob, Reuben;
Barry, Simon;
Gecz, Jozef

Publication type:

Article

Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4857, doi. 10.1093/hmg/ddt336

By:

Ansari, Morad;
Mckeigue, Paul M.;
Skerka, Christine;
Hayward, Caroline;
Rudan, Igor;
Vitart, Veronique;
Polasek, Ozren;
Armbrecht, Ana-Maria;
Yates, John R.W.;
Vatavuk, Zoran;
Bencic, Goran;
Kolcic, Ivana;
Oostra, Ben A.;
Van Duijn, Cornelia M.;
Campbell, Susan;
Stanton, Chloe M.;
Huffman, Jennifer;
Shu, Xinhua;
Khan, Jane C.;
Shahid, Humma

Publication type:

Article

Cigarette smoking induces small airway epithelial epigenetic changes with corresponding modulation of gene expression.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4726, doi. 10.1093/hmg/ddt326

By:

Buro-Auriemma, Lauren J.;
Salit, Jacqueline;
Hackett, Neil R.;
Walters, Matthew S.;
Strulovici-Barel, Yael;
Staudt, Michelle R.;
Fuller, Jennifer;
Mahmoud, Mai;
Stevenson, Christopher S.;
Hilton, Holly;
Ho, Melisa W.Y.;
Crystal, Ronald G.

Publication type:

Article

Wnt/β-catenin signaling suppresses DUX4 expression and prevents apoptosis of FSHD muscle cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4661, doi. 10.1093/hmg/ddt314

By:

Block, Gregory J.;
Narayanan, Divya;
Amell, Amanda M.;
Petek, Lisa M.;
Davidson, Kathryn C.;
Bird, Thomas D.;
Tawil, Rabi;
Moon, Randall T.;
Miller, Daniel G.

Publication type:

Article

Molecular modeling indicates distinct classes of missense variants with mild and severe XLRS phenotypes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4756, doi. 10.1093/hmg/ddt329

By:

Sergeev, Yuri V.;
Vitale, Susan;
Sieving, Paul A.;
Vincent, Ajoy;
Robson, Anthony G.;
Moore, Anthony T.;
Webster, Andrew R.;
Holder, Graham E.

Publication type:

Article

Differential effects of Best disease causing missense mutations on bestrophin-1 trafficking.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4688, doi. 10.1093/hmg/ddt316

By:

Johnson, Adiv A.;
Lee, Yong-Suk;
Stanton, J. Brett;
Yu, Kuai;
Hartzell, Criss H.;
Marmorstein, Lihua Y.;
Marmorstein, Alan D.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 23, p. NP, doi. 10.1093/hmg/ddt565
Publication type:: Article

Different selective pressures shape the evolution of Toll-like receptors in human and African great ape populations.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4829, doi. 10.1093/hmg/ddt335

By:

Quach, Hélène;
Wilson, Daniel;
Laval, Guillaume;
Patin, Etienne;
Manry, Jeremy;
Guibert, Jessica;
Barreiro, Luis B.;
Nerrienet, Eric;
Verschoor, Ernst;
Gessain, Antoine;
Przeworski, Molly;
Quintana-Murci, Lluis

Publication type:

Article

Mitochondrial DNA deletions in muscle satellite cells: implications for therapies.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4739, doi. 10.1093/hmg/ddt327

By:

Spendiff, Sally;
Reza, Mojgan;
Murphy, Julie L.;
Gorman, Grainne;
Blakely, Emma L.;
Taylor, Robert W.;
Horvath, Rita;
Campbell, Georgia;
Newman, Jane;
Lochmüller, Hanns;
Turnbull, Doug M.

Publication type:

Article

DJ-1 Associates with lipid rafts by palmitoylation and regulates lipid rafts-dependent endocytosis in astrocytes.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4805, doi. 10.1093/hmg/ddt332

By:

Kim, Kwang Soo;
Kim, Jin Soo;
Park, Ji-Young;
Suh, Young Ho;
Jou, Ilo;
Joe, Eun-Hye;
Park, Sang Myun

Publication type:

Article

The ALS disease-associated mutant TDP-43 impairs mitochondrial dynamics and function in motor neurons.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4706, doi. 10.1093/hmg/ddt319

By:

Wang, Wenzhang;
Li, Li;
Lin, Wen-Lang;
Dickson, Dennis W.;
Petrucelli, Leonard;
Zhang, Teng;
Wang, Xinglong

Publication type:

Article

A genome-wide association study of atopic dermatitis identifies loci with overlapping effects on asthma and psoriasis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4841, doi. 10.1093/hmg/ddt317

By:

Weidinger, Stephan;
Willis-Owen, Saffron A.G.;
Kamatani, Yoichiro;
Baurecht, Hansjörg;
Morar, Nilesh;
Liang, Liming;
Edser, Pauline;
Street, Teresa;
Rodriguez, Elke;
O'Regan, Grainne M.;
Beattie, Paula;
Fölster-Holst, Regina;
Franke, Andre;
Novak, Natalija;
Fahy, Caoimhe M.;
Winge, Mårten C.G.;
Kabesch, Michael;
Illig, Thomas;
Heath, Simon;
Söderhäll, Cilla

Publication type:

Article

Nav1.1 haploinsufficiency in excitatory neurons ameliorates seizure-associated sudden death in a mouse model of Dravet syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4784, doi. 10.1093/hmg/ddt331

By:

Ogiwara, Ikuo;
Iwasato, Takuji;
Miyamoto, Hiroyuki;
Iwata, Ryohei;
Yamagata, Tetsushi;
Mazaki, Emi;
Yanagawa, Yuchio;
Tamamaki, Nobuaki;
Hensch, Takao K.;
Itohara, Shigeyoshi;
Yamakawa, Kazuhiro

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 23, p. NP, doi. 10.1093/hmg/ddt566
Publication type:: Article

Hyperactive Ras/MAPK signaling is critical for tibial nonunion fracture in neurofibromin-deficient mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4818, doi. 10.1093/hmg/ddt333

By:

Sharma, Richa;
Wu, Xiaohua;
Rhodes, Steven D.;
Chen, Shi;
He, Yongzheng;
Yuan, Jin;
Li, Jiliang;
Yang, Xianlin;
Li, Xiaohong;
Jiang, Li;
Kim, Edward T.;
Stevenson, David A.;
Viskochil, David;
Xu, Mingjiang;
Yang, Feng-Chun

Publication type:

Article

Characterization of human sporadic ALS biomarkers in the familial ALS transgenic mSOD1G93A mouse model.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4720, doi. 10.1093/hmg/ddt325

By:

Lilo, Eitan;
Wald-Altman, Shane;
Solmesky, Leonardo J.;
Ben Yaakov, Keren;
Gershoni-Emek, Noga;
Bulvik, Shlomo;
Kassis, Ibrahim;
Karussis, Dimitrios;
Perlson, Eran;
Weil, Miguel

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 23, p. NP, doi. 10.1093/hmg/ddt564
Publication type:: Article

Curcumin facilitates a transitory cellular stress response in Trembler-J mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4698, doi. 10.1093/hmg/ddt318

By:

Okamoto, Yuji;
Pehlivan, Davut;
Wiszniewski, Wojciech;
Beck, Christine R.;
Snipes, G. Jackson;
Lupski, James R.;
Khajavi, Mehrdad

Publication type:

Article

Mitochondrial respiration without ubiquinone biosynthesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 23, p. 4768, doi. 10.1093/hmg/ddt330

By:

Wang, Ying;
Hekimi, Siegfried

Publication type:

Article