Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 20

Results: 23

A genome-wide association study identified new variants associated with the risk of chronic hepatitis B.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4233, doi. 10.1093/hmg/ddt266

By:

Kim, Yoon Jun;
Kim, Hwi Young;
Lee, Jeong-Hoon;
Yu, Su Jong;
Yoon, Jung-Hwan;
Lee, Hyo-Suk;
Kim, Chung Yong;
Cheong, Jae Youn;
Cho, Sung Won;
Park, Neung Hwa;
Park, Byung Lae;
Namgoong, Seok;
Kim, Lyoung Hyo;
Cheong, Hyun Sub;
Shin, Hyoung Doo

Publication type:

Article

Ablation of P2X7 receptor exacerbates gliosis and motoneuron death in the SOD1-G93A mouse model of amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4102, doi. 10.1093/hmg/ddt259

By:

Apolloni, Savina;
Amadio, Susanna;
Montilli, Cinzia;
Volonté, Cinzia;
D'Ambrosi, Nadia

Publication type:

Article

A mutation in Tubb2b, a human polymicrogyria gene, leads to lethality and abnormal cortical development in the mouse.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4053, doi. 10.1093/hmg/ddt255

By:

Stottmann, R.W.;
Donlin, M.;
Hafner, A.;
Bernard, A.;
Sinclair, D.A.;
Beier, D.R.

Publication type:

Article

New evidence for positive selection helps explain the paternal age effect observed in achondroplasia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4117, doi. 10.1093/hmg/ddt260

By:

Shinde, Deepali N.;
Elmer, Dominik P.;
Calabrese, Peter;
Boulanger, Jérôme;
Arnheim, Norman;
Tiemann-Boege, Irene

Publication type:

Article

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4206, doi. 10.1093/hmg/ddt272

By:

Broucqsault, Natacha;
Morere, Julia;
Gaillard, Marie-Cécile;
Dumonceaux, Julie;
Torrents, Julia;
Salort-Campana, Emmanuelle;
Maues De Paula, André;
Bartoli, Marc;
Fernandez, Carla;
Chesnais, Anne Laure;
Ferreboeuf, Maxime;
Sarda, Laure;
Dufour, Henry;
Desnuelle, Claude;
Attarian, Shahram;
Levy, Nicolas;
Nguyen, Karine;
Magdinier, Frédérique;
Roche, Stéphane

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 20, p. NP, doi. 10.1093/hmg/ddt475
Publication type:: Article

Differentiation of epidermal keratinocytes is dependent on glucosylceramide:ceramide processing.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4164, doi. 10.1093/hmg/ddt264

By:

Amen, Nicole;
Mathow, Daniel;
Rabionet, Mariona;
Sandhoff, Roger;
Langbein, Lutz;
Gretz, Norbert;
Jäckel, Carsten;
Gröne, Hermann-Josef;
Jennemann, Richard

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 20, p. NP, doi. 10.1093/hmg/ddt469
Publication type:: Article

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4084, doi. 10.1093/hmg/ddt258

By:

Gogliotti, Rocky G.;
Cardona, Herminio;
Singh, Jasbir;
Bail, Sophie;
Emery, Carina;
Kuntz, Nancy;
Jorgensen, Michael;
Durens, Madel;
Xia, Bing;
Barlow, Courtenay;
Heier, Christopher R.;
Plasterer, Heather L.;
Jacques, Vincent;
Kiledjian, Megerditch;
Jarecki, Jill;
Rusche, James;
DiDonato, Christine J.

Publication type:

Article

Coronary heart disease is associated with a mutation in mitochondrial tRNA.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4064, doi. 10.1093/hmg/ddt256

By:

Jia, Zidong;
Wang, Xinjian;
Qin, Yanwen;
Xue, Ling;
Jiang, Pingping;
Meng, Yanzi;
Shi, Suxue;
Wang, Yan;
Qin Mo, Jun;
Guan, Min-Xin

Publication type:

Article

Linear and extended: a common polyglutamine conformation recognized by the three antibodies MW1, 1C2 and 3B5H10.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4215, doi. 10.1093/hmg/ddt273

By:

Klein, Fabrice A. C.;
Zeder-Lutz, Gabrielle;
Cousido-Siah, Alexandra;
Mitschler, André;
Katz, Aline;
Eberling, Pascal;
Mandel, Jean-Louis;
Podjarny, Alberto;
Trottier, Yvon

Publication type:

Article

PLEKHG5 deficiency leads to an intermediate form of autosomal-recessive Charcot–Marie–Tooth disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4224, doi. 10.1093/hmg/ddt274

By:

Azzedine, Hamid;
Zavadakova, Petra;
Planté-Bordeneuve, Violaine;
Vaz Pato, Maria;
Pinto, Nuno;
Bartesaghi, Luca;
Zenker, Jennifer;
Poirot, Olivier;
Bernard-Marissal, Nathalie;
Arnaud Gouttenoire, Estelle;
Cartoni, Romain;
Title, Alexandra;
Venturini, Giulia;
Médard, Jean-Jacques;
Makowski, Edward;
Schöls, Ludger;
Claeys, Kristl G.;
Stendel, Claudia;
Roos, Andreas;
Weis, Joachim

Publication type:

Article

The Bardet–Biedl syndrome-related protein CCDC28B modulates mTORC2 function and interacts with SIN1 to control cilia length independently of the mTOR complex.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4031, doi. 10.1093/hmg/ddt253

By:

Cardenas-Rodriguez, Magdalena;
Irigoín, Florencia;
Osborn, Daniel P.S.;
Gascue, Cecilia;
Katsanis, Nicholas;
Beales, Philip L.;
Badano, Jose L.

Publication type:

Article

Fine-mapping identifies multiple prostate cancer risk loci at 5p15, one of which associates with TERT expression.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4239, doi. 10.1093/hmg/ddt334

By:

Kote-Jarai, Zsofia;
Saunders, Edward J.;
Leongamornlert, Daniel A.;
Tymrakiewicz, Malgorzata;
Dadaev, Tokhir;
Jugurnauth-Little, Sarah;
Ross-Adams, Helen;
Al Olama, Ali Amin;
Benlloch, Sara;
Halim, Silvia;
Russell, Roslin;
Dunning, Alison M.;
Luccarini, Craig;
Dennis, Joe;
Neal, David E.;
Hamdy, Freddie C.;
Donovan, Jenny L.;
Muir, Ken;
Giles, Graham G.;
Severi, Gianluca

Publication type:

Article

Blood RNA profiling in a large cohort of multiple sclerosis patients and healthy controls.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4194, doi. 10.1093/hmg/ddt267

By:

Nickles, Dorothee;
Chen, Hsuan P.;
Li, Michael M.;
Khankhanian, Pouya;
Madireddy, Lohith;
Caillier, Stacy J.;
Santaniello, Adam;
Cree, Bruce A.C.;
Pelletier, Daniel;
Hauser, Stephen L.;
Oksenberg, Jorge R.;
Baranzini, Sergio E.

Publication type:

Article

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4136, doi. 10.1093/hmg/ddt262

By:

Ishihara, Tomohiko;
Ariizumi, Yuko;
Shiga, Atsushi;
Kato, Taisuke;
Tan, Chun-Feng;
Sato, Tatsuya;
Miki, Yukari;
Yokoo, Mariko;
Fujino, Takeshi;
Koyama, Akihide;
Yokoseki, Akio;
Nishizawa, Masatoyo;
Kakita, Akiyoshi;
Takahashi, Hitoshi;
Onodera, Osamu

Publication type:

Article

The DcpS inhibitor RG3039 improves motor function in SMA mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4074, doi. 10.1093/hmg/ddt257

By:

Van Meerbeke, James P.;
Gibbs, Rebecca M.;
Plasterer, Heather L.;
Miao, Wenyan;
Feng, Zhihua;
Lin, Ming-Yi;
Rucki, Agnieszka A.;
Wee, Claribel D.;
Xia, Bing;
Sharma, Shefali;
Jacques, Vincent;
Li, Darrick K.;
Pellizzoni, Livio;
Rusche, James R.;
Ko, Chien-Ping;
Sumner, Charlotte J.

Publication type:

Article

Dilysine motifs in exon 2b of SMN protein mediate binding to the COPI vesicle protein α-COP and neurite outgrowth in a cell culture model of spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4043, doi. 10.1093/hmg/ddt254

By:

Custer, Sara K.;
Todd, Adrian G.;
Singh, Natalia N.;
Androphy, Elliot J.

Publication type:

Article

Type of uromodulin mutation and allelic status influence onset and severity of uromodulin-associated kidney disease in mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4148, doi. 10.1093/hmg/ddt263

By:

Kemter, Elisabeth;
Prueckl, Petra;
Sklenak, Stefanie;
Rathkolb, Birgit;
Habermann, Felix A.;
Hans, Wolfgang;
Gailus-Durner, Valérie;
Fuchs, Helmut;
Hrabě de Angelis, Martin;
Wolf, Eckhard;
Aigner, Bernhard;
Wanke, Ruediger

Publication type:

Article

Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4127, doi. 10.1093/hmg/ddt261

By:

Koval, Erica D.;
Shaner, Carey;
Zhang, Peter;
du Maine, Xavier;
Fischer, Kimberlee;
Tay, Jia;
Chau, B. Nelson;
Wu, Gregory F.;
Miller, Timothy M.

Publication type:

Article

Regional chromatin decompaction in Cornelia de Lange syndrome associated with NIPBL disruption can be uncoupled from cohesin and CTCF.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 20, p. 4180, doi. 10.1093/hmg/ddt265

By:

Nolen, Leisha D.;
Boyle, Shelagh;
Ansari, Morad;
Pritchard, Emily;
Bickmore, Wendy A.

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 20, p. NP, doi. 10.1093/hmg/ddt473
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 20, p. NP, doi. 10.1093/hmg/ddt471
Publication type:: Article