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
Subscription Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds550
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
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
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
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
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
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
Editorial Board.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds549
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
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
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
Contents Page.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 3, p. NP, doi. 10.1093/hmg/dds547
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
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
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
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