Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 9

Results: 14

Identification of transcriptional targets for Six5: implication for the pathogenesis of myotonic dystrophy type 1.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1045, doi. 10.1093/hmg/11.9.1045

By:

Sato, Shigeru;
Nakamura, Miwa;
Cho, Diane H.;
Tapscott, Stephen J.;
Ozaki, Hidenori;
Kawakami, Kiyoshi

Publication type:

Article

Gene complementation of airway epithelium in the cystic fibrosis mouse is necessary and sufficient to correct the pathogen clearance and inflammatory abnormalities.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1059, doi. 10.1093/hmg/11.9.1059

By:

Oceandy, Delvac;
McMorran, Brendan J.;
Smith, Stephen N.;
Schreiber, Rainer;
Kunzelmann, Karl;
Alton, Eric W.F.W.;
Hume, David A.;
Wainwright, Brandon J.

Publication type:

Article

Heat shock protein 27 prevents cellular polyglutamine toxicity and suppresses the increase of reactive oxygen species caused by huntingtin.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1137, doi. 10.1093/hmg/11.9.1137

By:

Wyttenbach, Andreas;
Sauvageot, Olivier;
Carmichael, Jenny;
Diaz-Latoud, Chantal;
Arrigo, Andre-Patrik;
Rubinsztein, David C.

Publication type:

Article

Aggregate-prone proteins with polyglutamine and polyalanine expansions are degraded by autophagy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1107, doi. 10.1093/hmg/11.9.1107

By:

Ravikumar, Brinda;
Duden, Rainer;
Rubinsztein, David C.

Publication type:

Article

Murine model of autosomal dominant retinitis pigmentosa generated by targeted deletion at codon 307 of the rds–peripherin gene.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1005, doi. 10.1093/hmg/11.9.1005

By:

McNally, Niamh;
Kenna, Paul F.;
Rancourt, Derrick;
Ahmed, Tanweer;
Stitt, Alan;
Colledge, William H.;
Lloyd, David G.;
Palfi, Arpad;
O'Neill, Brian;
Humphries, Marian M.;
Humphries, Peter;
Farrar, G. Jane

Publication type:

Article

Identification of a novel family of presenilin homologues.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1037, doi. 10.1093/hmg/11.9.1037

By:

Ponting, Chris P.;
Hutton, Mike;
Nyborg, Andrew;
Baker, Matthew;
Jansen, Karen;
Golde, Todd E.

Publication type:

Article

Expression of Dp260 in muscle tethers the actin cytoskeleton to the dystrophin–glycoprotein complex and partially prevents dystrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1095, doi. 10.1093/hmg/11.9.1095

By:

Warner, Laura E.;
DelloRusso, Christiana;
Crawford, Robert W.;
Rybakova, Inna N.;
Patel, Jitandrakumar R.;
Ervasti, James M.;
Chamberlain, Jeffrey S.

Publication type:

Article

Mutations in the LGI1/Epitempin gene on 10q24 cause autosomal dominant lateral temporal epilepsy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1119, doi. 10.1093/hmg/11.9.1119

By:

Morante-Redolat, José M.;
Gorostidi-Pagola, Ana;
Piquer-Sirerol, Salomé;
Sáenz, Amets;
Poza, Juan J.;
Galán, Juan;
Gesk, Stefan;
Sarafidou, Theologia;
Mautner, Victor-F.;
Binelli, Simona;
Staub, Eike;
Hinzmann, Bernd;
French, Lisa;
Prud'homme, Jean-F.;
Passarelli, Daniela;
Scannapieco, Paolo;
Tassinari, Carlo A.;
Avanzini, Giuliano;
Martí-Massó, José F.;
Kluwe, Lan

Publication type:

Article

A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1069, doi. 10.1093/hmg/11.9.1069

By:

Mårdh, Carina K.;
Bäckman, Birgitta;
Holmgren, Gösta;
Hu, Jan C.-C.;
Simmer, James P.;
Forsman-Semb, Kristina

Publication type:

Article

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1017, doi. 10.1093/hmg/11.9.1017

By:

Lefebvre, Suzie;
Burlet, Philippe;
Viollet, Louis;
Bertrandy, Solange;
Huber, Céline;
Belser, Caroline;
Munnich, Arnold

Publication type:

Article

VSX1: A gene for posterior polymorphous dystrophy and keratoconus.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1029, doi. 10.1093/hmg/11.9.1029

By:

Héon, Elise;
Greenberg, Alex;
Kopp, Kelly K.;
Rootman, David;
Vincent, Andrea L.;
Billingsley, Gail;
Priston, Megan;
Dorval, Kimberley M.;
Chow, Robert L.;
McInnes, Roderick R.;
Heathcote, Godfrey;
Westall, Carol;
Sutphin, John E.;
Semina, Elena;
Bremner, Rod;
Stone, Edwin M.

Publication type:

Article

Pallister–Hall syndrome phenotype in mice mutant for Gli3.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1129, doi. 10.1093/hmg/11.9.1129

By:

Böse, Jens;
Grotewold, Lars;
Rüther, Ulrich

Publication type:

Article

YAC transgenic mice carrying pathological alleles of the MJD1 locus exhibit a mild and slowly progressive cerebellar deficit.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 1075, doi. 10.1093/hmg/11.9.1075

By:

Cemal, Cemal K.;
Carroll, Christopher J.;
Lawrence, Lorraine;
Lowrie, Margaret B.;
Ruddle, Piers;
Al-Mahdawi, Sahar;
King, Rosalind H.M.;
Pook, Mark A.;
Huxley, Clare;
Chamberlain, Susan

Publication type:

Article

Different RPGR exon ORF15 mutations in Canids provide insights into photoreceptor cell degeneration.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 9, p. 993, doi. 10.1093/hmg/11.9.993

By:

Zhang, Qi;
Acland, Gregory M.;
Wu, Wen X.;
Johnson, Jennifer L.;
Pearce-Kelling, Sue;
Tulloch, Brian;
Vervoort, Raf;
Wright, Alan F.;
Aguirre, Gustavo D.

Publication type:

Article