Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 12

Results: 24

PINK1 and Parkin complementarily protect dopaminergic neurons in vertebrates.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2423, doi. 10.1093/hmg/ddt095

By:

Matsui, Hideaki;
Gavinio, Roberto;
Asano, Takeshi;
Uemura, Norihito;
Ito, Hidefumi;
Taniguchi, Yoshihito;
Kobayashi, Yoshito;
Maki, Takakuni;
Shen, Jie;
Takeda, Shunichi;
Uemura, Kengo;
Yamakado, Hodaka;
Takahashi, Ryosuke

Publication type:

Article

Myopathic lamin mutations impair nuclear stability in cells and tissue and disrupt nucleo-cytoskeletal coupling.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2335, doi. 10.1093/hmg/ddt079

By:

Zwerger, Monika;
Jaalouk, Diana E.;
Lombardi, Maria L.;
Isermann, Philipp;
Mauermann, Monika;
Dialynas, George;
Herrmann, Harald;
Wallrath, Lori L.;
Lammerding, Jan

Publication type:

Article

GLRB is the third major gene of effect in hyperekplexia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2552, doi. 10.1093/hmg/ddt147

By:

Chung, Seo-Kyung;
Bode, Anna;
Cushion, Thomas D.;
Thomas, Rhys H.;
Hunt, Charlotte;
Wood, Sian-Elin;
Pickrell, William O.;
Drew, Cheney J.G.;
Yamashita, Sumimasa;
Shiang, Rita;
Leiz, Steffen;
Longardt, Ann-Carolyn;
Raile, Vera;
Weschke, Bernhard;
Puri, Ratna D.;
Verma, Ishwar C.;
Harvey, Robert J.;
Ratnasinghe, Didi D.;
Parker, Michael;
Rittey, Chris

Publication type:

Article

Gata3 antagonizes cancer progression in Pten-deficient prostates.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2400, doi. 10.1093/hmg/ddt088

By:

Nguyen, Alana H.T.;
Tremblay, Mathieu;
Haigh, Katharina;
Koumakpayi, Ismaël Hervé;
Paquet, Marilène;
Pandolfi, Pier Paolo;
Mes-Masson, Anne-Marie;
Saad, Fred;
Haigh, Jody J.;
Bouchard, Maxime

Publication type:

Article

Germline and somatic KLLN alterations in breast cancer dysregulate G2 arrest.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2451, doi. 10.1093/hmg/ddt097

By:

Nizialek, Emily A.;
Peterson, Charissa;
Mester, Jessica L.;
Downes-Kelly, Erinn;
Eng, Charis

Publication type:

Article

Common genetic determinants of breast-cancer risk in East Asian women: a collaborative study of 23 637 breast cancer cases and 25 579 controls.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2539, doi. 10.1093/hmg/ddt089

By:

Zheng, Wei;
Zhang, Ben;
Cai, Qiuyin;
Sung, Hyuna;
Michailidou, Kyriaki;
Shi, Jiajun;
Choi, Ji-Yeob;
Long, Jirong;
Dennis, Joe;
Humphreys, Manjeet K.;
Wang, Qin;
Lu, Wei;
Gao, Yu-Tang;
Li, Chun;
Cai, Hui;
Park, Sue K.;
Yoo, Keun-Young;
Noh, Dong-Young;
Han, Wonshik;
Dunning, Alison M.

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 12, p. NP, doi. 10.1093/hmg/ddt236
Publication type:: Article

A patient-derived olfactory stem cell disease model for ataxia-telangiectasia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2495, doi. 10.1093/hmg/ddt101

By:

Stewart, Romal;
Kozlov, Sergei;
Matigian, Nicholas;
Wali, Gautam;
Gatei, Magtouf;
Sutharsan, Ratneswary;
Bellette, Bernadette;
Wraith-Kijas, Amanda;
Cochrane, Julie;
Coulthard, Mark;
Perry, Chris;
Sinclair, Kate;
Mackay-Sim, Alan;
Lavin, Martin F.

Publication type:

Article

Developmental abnormalities in mouse embryos lacking the HDL receptor SR-BI.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2551, doi. 10.1093/hmg/ddt129

By:

Santander, Nicolás Guillermo;
Contreras-Duarte, Susana;
Awad, Marı́a Fernanda;
Lizama, Carlos;
Passalacqua, Isabella;
Rigotti, Attilio;
Busso, Dolores

Publication type:

Article

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

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2411, doi. 10.1093/hmg/ddt094

By:

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

Publication type:

Article

Small-molecule TrkB receptor agonists improve motor function and extend survival in a mouse model of Huntington's disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2462, doi. 10.1093/hmg/ddt098

By:

Jiang, Mali;
Peng, Qi;
Liu, Xia;
Jin, Jing;
Hou, Zhipeng;
Zhang, Jiangyang;
Mori, Susumu;
Ross, Christopher A.;
Ye, Keqiang;
Duan, Wenzhen

Publication type:

Article

Progressive development of polycystic kidney disease in the mouse model expressing Pkd1 extracellular domain.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2361, doi. 10.1093/hmg/ddt081

By:

Kurbegovic, Almira;
Trudel, Marie

Publication type:

Article

KBP–cytoskeleton interactions underlie developmental anomalies in Goldberg–Shprintzen syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2387

By:

Drévillon, Loïc;
Megarbane, André;
Demeer, Bénédicte;
Matar, Corine;
Benit, Paule;
Briand-Suleau, Audrey;
Bodereau, Virginie;
Ghoumid, Jamal;
Nasser, Mayssa;
Decrouy, Xavier;
Doco-Fenzy, Martine;
Rustin, Pierre;
Gaillard, Dominique;
Goossens, Michel;
Giurgea, Irina

Publication type:

Article

Investigating the contribution of VAPB/ALS8 loss of function in amyotrophic lateral sclerosis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2350, doi. 10.1093/hmg/ddt080

By:

Kabashi, Edor;
El Oussini, Hajer;
Bercier, Valérie;
Gros-Louis, François;
Valdmanis, Paul N.;
McDearmid, Jonathan;
Mejier, Inge A.;
Dion, Patrick A.;
Dupre, Nicolas;
Hollinger, David;
Sinniger, Jérome;
Dirrig-Grosch, Sylvie;
Camu, William;
Meininger, Vincent;
Loeffler, Jean-Philippe;
René, Frédérique;
Drapeau, Pierre;
Rouleau, Guy A.;
Dupuis, Luc

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 12, p. NP, doi. 10.1093/hmg/ddt235
Publication type:: Article

Tardbpl splicing rescues motor neuron and axonal development in a mutant tardbp zebrafish.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2376, doi. 10.1093/hmg/ddt082

By:

Hewamadduma, Channa A.A.;
Grierson, Andrew J.;
Ma, Taylur P.;
Pan, Luyuan;
Moens, Cecilia B.;
Ingham, Philip W.;
Ramesh, Tennore;
Shaw, Pamela J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 12, p. NP, doi. 10.1093/hmg/ddt233
Publication type:: Article

Genome-wide association analysis of red blood cell traits in African Americans: the COGENT Network.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2529

By:

Chen, Zhao;
Tang, Hua;
Qayyum, Rehan;
Schick, Ursula M.;
Nalls, Michael A.;
Handsaker, Robert;
Li, Jin;
Lu, Yingchang;
Yanek, Lisa R.;
Keating, Brendan;
Meng, Yan;
van Rooij, Frank J.A.;
Okada, Yukinori;
Kubo, Michiaki;
Rasmussen-Torvik, Laura;
Keller, Margaux F.;
Lange, Leslie;
Evans, Michele;
Bottinger, Erwin P.;
Linderman, Michael D.

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. 12, p. 2520, doi. 10.1093/hmg/ddt086

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;
Russel, 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

Role of Gα(olf) in familial and sporadic adult-onset primary dystonia.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2510, doi. 10.1093/hmg/ddt102

By:

Vemula, Satya R.;
Puschmann, Andreas;
Xiao, Jianfeng;
Zhao, Yu;
Rudzińska, Monika;
Frei, Karen P.;
Truong, Daniel D.;
Wszolek, Zbigniew K.;
LeDoux, Mark S.

Publication type:

Article

Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2482, doi. 10.1093/hmg/ddt100

By:

Barbelanne, Marine;
Song, Jenny;
Ahmadzai, Mustafa;
Tsang, William Y.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 12, p. NP, doi. 10.1093/hmg/ddt234
Publication type:: Article

Tissue-specific effects of saposin A and saposin B on glycosphingolipid degradation in mutant mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2435, doi. 10.1093/hmg/ddt096

By:

Sun, Ying;
Zamzow, Matt;
Ran, Huimin;
Zhang, Wujuan;
Quinn, Brian;
Barnes, Sonya;
Witte, David P.;
Setchell, Kenneth D.R.;
Williams, Michael T.;
Vorhees, Charles V.;
Grabowski, Gregory A.

Publication type:

Article

Overdosage of Hand2 causes limb and heart defects in the human chromosomal disorder partial trisomy distal 4q.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 12, p. 2471, doi. 10.1093/hmg/ddt099

By:

Tamura, Masaru;
Hosoya, Masaki;
Fujita, Motoi;
Iida, Tomoko;
Amano, Takanori;
Maeno, Akiteru;
Kataoka, Taro;
Otsuka, Taketo;
Tanaka, Shigekazu;
Tomizawa, Shuichi;
Shiroishi, Toshihiko

Publication type:

Article