Works matching IS 09646906 AND DT 2013 AND VI 22 AND IP 3

Results: 21

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3).

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 508, doi. 10.1093/hmg/dds449

By:

Hübener, Jeannette;
Weber, Jonasz Jeremiasz;
Richter, Claudia;
Honold, Lisa;
Weiss, Andreas;
Murad, Fabronia;
Breuer, Peter;
Wüllner, Ullrich;
Bellstedt, Peter;
Paquet-Durand, Francois;
Takano, Jiro;
Saido, Takaomi C.;
Riess, Olaf;
Nguyen, Huu Phuc

Publication type:

Article

Expression of DUX4 in zebrafish development recapitulates facioscapulohumeral muscular dystrophy.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 568, doi. 10.1093/hmg/dds467

By:

Mitsuhashi, Hiroaki;
Mitsuhashi, Satomi;
Lynn-Jones, Taylor;
Kawahara, Genri;
Kunkel, Louis M.

Publication type:

Article

p63 control of desmosome gene expression and adhesion is compromised in AEC syndrome.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 531, doi. 10.1093/hmg/dds464

By:

Ferone, Giustina;
Mollo, Maria Rosaria;
Thomason, Helen A.;
Antonini, Dario;
Zhou, Huiqing;
Ambrosio, Raffaele;
De Rosa, Laura;
Salvatore, Domenico;
Getsios, Spiro;
van Bokhoven, Hans;
Dixon, Jill;
Missero, Caterina

Publication type:

Article

MicroRNA-205 regulates the expression of Parkinson's disease-related leucine-rich repeat kinase 2 protein.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 608, doi. 10.1093/hmg/dds470

By:

Cho, Hyun Jin;
Liu, Guoxiang;
Jin, Seok Min;
Parisiadou, Loukia;
Xie, Chengsong;
Yu, Jia;
Sun, Lixin;
Ma, Bo;
Ding, Jinhui;
Vancraenenbroeck, Renée;
Lobbestael, Evy;
Baekelandt, Veerle;
Taymans, Jean-Marc;
He, Ping;
Troncoso, Juan C.;
Shen, Yong;
Cai, Huaibin

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds548
Publication type:: Article

Subscription Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds550
Publication type:: Article

Bone marrow transplantation improves the outcome of Atm-deficient mice through the migration of ATM-competent cells.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 493, doi. 10.1093/hmg/dds448

By:

Pietzner, J.;
Baer, P.C.;
Duecker, R.P.;
Merscher, M.B.;
Satzger-Prodinger, C.;
Bechmann, I.;
Wietelmann, A.;
Del Turco, D.;
Doering, C.;
Kuci, S.;
Bader, P.;
Schirmer, S.;
Zielen, S.;
Schubert, R.

Publication type:

Article

Antagonism of GxxPG fragments ameliorates manifestations of aortic disease in Marfan syndrome mice.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 433, doi. 10.1093/hmg/dds439

By:

Guo, Gao;
Muñoz-García, Begoña;
Ott, Claus-Eric;
Grünhagen, Johannes;
Mousa, Shaaban A.;
Pletschacher, Angelika;
von Kodolitsch, Yskert;
Knaus, Petra;
Robinson, Peter N.

Publication type:

Article

Genome-wide copy number variation study in anorectal malformations.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 621, doi. 10.1093/hmg/dds451

By:

Wong, Emily H.M.;
Cui, Long;
Ng, Chun-Laam;
Tang, Clara S.M.;
Liu, Xue-Lai;
So, Man-Ting;
Yip, Benjamin Hon-Kei;
Cheng, Guo;
Zhang, Ruizhong;
Tang, Wai-Kiu;
Yang, Wanling;
Lau, Yu-Lung;
Baum, Larry;
Kwan, Patrick;
Sun, Liang-Dan;
Zuo, Xian-Bo;
Ren, Yun-Qing;
Yin, Xian-Yong;
Miao, Xiao-Ping;
Liu, Jianjun

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds549
Publication type:: Article

Somatic gain-of-function mutations in PIK3CA in patients with macrodactyly.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 444, doi. 10.1093/hmg/dds440

By:

Rios, Jonathan J.;
Paria, Nandina;
Burns, Dennis K.;
Israel, Bonnie A.;
Cornelia, Reuel;
Wise, Carol A.;
Ezaki, Marybeth

Publication type:

Article

The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 544, doi. 10.1093/hmg/dds465

By:

Beygo, Jasmin;
Citro, Valentina;
Sparago, Angela;
De Crescenzo, Agostina;
Cerrato, Flavia;
Heitmann, Melanie;
Rademacher, Katrin;
Guala, Andrea;
Enklaar, Thorsten;
Anichini, Cecilia;
Cirillo Silengo, Margherita;
Graf, Notker;
Prawitt, Dirk;
Cubellis, Maria Vittoria;
Horsthemke, Bernhard;
Buiting, Karin;
Riccio, Andrea

Publication type:

Article

ORMDL3 modulates store-operated calcium entry and lymphocyte activation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 519, doi. 10.1093/hmg/dds450

By:

Carreras-Sureda, Amado;
Cantero-Recasens, Gerard;
Rubio-Moscardo, Fanny;
Kiefer, Kerstin;
Peinelt, Christine;
Niemeyer, Barbara A.;
Valverde, Miguel A.;
Vicente, Rubén

Publication type:

Article

Gene therapy provides long-term visual function in a pre-clinical model of retinitis pigmentosa.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 558, doi. 10.1093/hmg/dds466

By:

Wert, Katherine J.;
Davis, Richard J.;
Sancho-Pelluz, Javier;
Nishina, Patsy M.;
Tsang, Stephen H.

Publication type:

Article

Trans-chromosomic mice containing a human CYP3A cluster for prediction of xenobiotic metabolism in humans.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 578, doi. 10.1093/hmg/dds468

By:

Kazuki, Yasuhiro;
Kobayashi, Kaoru;
Aueviriyavit, Sasitorn;
Oshima, Takeshi;
Kuroiwa, Yoshimi;
Tsukazaki, Yasuko;
Senda, Naoto;
Kawakami, Hiroki;
Ohtsuki, Sumio;
Abe, Satoshi;
Takiguchi, Masato;
Hoshiya, Hidetoshi;
Kajitani, Naoyo;
Takehara, Shoko;
Kubo, Kinya;
Terasaki, Tetsuya;
Chiba, Kan;
Tomizuka, Kazuma;
Oshimura, Mitsuo

Publication type:

Article

Kidins220 accumulates with tau in human Alzheimer's disease and related models: modulation of its calpain-processing by GSK3β/PP1 imbalance.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 466

By:

López-Menéndez, Celia;
Gamir-Morralla, Andrea;
Jurado-Arjona, Jerónimo;
Higuero, Alonso M.;
Campanero, Miguel R.;
Ferrer, Isidro;
Hernández, Félix;
Ávila, Jesús;
Díaz-Guerra, Margarita;
Iglesias, Teresa

Publication type:

Article

iPS cell modeling of Best disease: insights into the pathophysiology of an inherited macular degeneration.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 593, doi. 10.1093/hmg/dds469

By:

Singh, Ruchira;
Shen, Wei;
Kuai, David;
Martin, Jessica M.;
Guo, Xiangrong;
Smith, Molly A.;
Perez, Enio T.;
Phillips, M. Joseph;
Simonett, Joseph M.;
Wallace, Kyle A.;
Verhoeven, Amelia D.;
Capowski, Elizabeth E.;
Zhang, Xiaoqing;
Yin, Yingnan;
Halbach, Patrick J.;
Fishman, Gerald A.;
Wright, Lynda S.;
Pattnaik, Bikash R.;
Gamm, David M.

Publication type:

Article

Seven functional classes of Barth syndrome mutation.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 483, doi. 10.1093/hmg/dds447

By:

Whited, Kevin;
Baile, Matthew G.;
Currier, Pamela;
Claypool, Steven M.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds547
Publication type:: Article

Abnormal cerebellar development and ataxia in CARP VIII morphant zebrafish.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 417, doi. 10.1093/hmg/dds438

By:

Aspatwar, Ashok;
Tolvanen, Martti E.E.;
Jokitalo, Eija;
Parikka, Mataleena;
Ortutay, Csaba;
Harjula, Sanna-Kaisa E.;
Rämet, Mika;
Vihinen, Mauno;
Parkkila, Seppo

Publication type:

Article

Hip14l-deficient mice develop neuropathological and behavioural features of Huntington disease.

Published in:

Human Molecular Genetics, 2013, v. 22, n. 3, p. 452, doi. 10.1093/hmg/dds441

By:

Sutton, Liza M.;
Sanders, Shaun S.;
Butland, Stefanie L.;
Singaraja, Roshni R.;
Franciosi, Sonia;
Southwell, Amber L.;
Doty, Crystal N.;
Schmidt, Mandi E.;
Mui, Katherine K.N.;
Kovalik, Vlad;
Young, Fiona B.;
Zhang, Weining;
Hayden, Michael R.

Publication type:

Article