Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 24

Results: 12

Rescue of neurodegeneration in Niemann–Pick C mice by a prion-promoter-driven Npc1 cDNA transgene.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3107, doi. 10.1093/hmg/11.24.3107

By:

Loftus, Stacie K.;
Erickson, Robert P.;
Walkley, Steven U.;
Bryant, Mark A.;
Incao, Arturo;
Heidenreich, Randall A.;
Pavan, William J.

Publication type:

Article

Mutations in congenital myasthenic syndromes reveal an ɛ subunit C-terminal cysteine, C470, crucial for maturation and surface expression of adult AChR.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3087, doi. 10.1093/hmg/11.24.3087

By:

Ealing, John;
Webster, Richard;
Brownlow, Sharon;
Abdelgany, Amr;
Oosterhuis, Hans;
Muntoni, Francesco;
Vaux, David J.;
Vincent, Angela;
Beeson, David

Publication type:

Article

Identification of the coding sequences responsible for Tsc2-mediated tumor suppression using a transgenic rat system.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 2997, doi. 10.1093/hmg/11.24.2997

By:

Momose, Shuji;
Kobayashi, Toshiyuki;
Mitani, Hiroaki;
Hirabayashi, Masumi;
Ito, Kazumi;
Ueda, Masatsugu;
Nabeshima, Yo-ichi;
Hino, Okio

Publication type:

Article

Localization in the human retina of the X-linked retinitis pigmentosa protein RP2, its homologue cofactor C and the RP2 interacting protein Arl3.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3065, doi. 10.1093/hmg/11.24.3065

By:

Grayson, Celene;
Bartolini, Francesca;
Chapple, J. Paul;
Willison, Keith R.;
Bhamidipati, Arunashree;
Lewis, Sally A.;
Luthert, Philip J.;
Hardcastle, Alison J.;
Cowan, Nicholas J.;
Cheetham, Michael E.

Publication type:

Article

Intracellular retention of mutant retinoschisin is the pathological mechanism underlying X-linked retinoschisis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3097, doi. 10.1093/hmg/11.24.3097

By:

Wang, Tao;
Waters, Caroline T.;
Rothman, Alex M.K.;
Jakins, Tracy J.;
Römisch, Karin;
Trump, Dorothy

Publication type:

Article

Sox10 haploinsufficiency affects maintenance of progenitor cells in a mouse model of Hirschsprung disease.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3075, doi. 10.1093/hmg/11.24.3075

By:

Paratore, Christian;
Eichenberger, Christof;
Suter, Ueli;
Sommer, Lukas

Publication type:

Article

A cellular model for Friedreich Ataxia reveals small-molecule glutathione peroxidase mimetics as novel treatment strategy.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3055, doi. 10.1093/hmg/11.24.3055

By:

Jauslin, Matthias L.;
Wirth, Thomas;
Meier, Thomas;
Schoumacher, Fabrice

Publication type:

Article

Relative contribution of variation within the APOC3/A4/A5 gene cluster in determining plasma triglycerides.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3039, doi. 10.1093/hmg/11.24.3039

By:

Talmud, Philippa J.;
Hawe, Emma;
Martin, Steve;
Olivier, Michael;
Miller, George J.;
Rubin, Edward M.;
Pennacchio, Len A.;
Humphries, Steve E.

Publication type:

Article

Two independent apolipoprotein A5 haplotypes influence human plasma triglyceride levels.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3031, doi. 10.1093/hmg/11.24.3031

By:

Pennacchio, Len A.;
Olivier, Michael;
Hubacek, Jaroslav A.;
Krauss, Ronald M.;
Rubin, Edward M.;
Cohen, Jonathan C.

Publication type:

Article

Molecular mechanisms of autosomal recessive hypercholesterolemia.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3019, doi. 10.1093/hmg/11.24.3019

By:

Wilund, Kenneth R.;
Yi, Ming;
Campagna, Filomena;
Arca, Marcello;
Zuliani, Giovanni;
Fellin, Renato;
Ho, Yiu-Kee;
Garcia, J. Victor;
Hobbs, Helen H.;
Cohen, Jonathan C.

Publication type:

Article

A novel gene, Pog, is necessary for primordial germ cell proliferation in the mouse and underlies the germ cell deficient mutation, gcd.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3047, doi. 10.1093/hmg/11.24.3047

By:

Agoulnik, Alexander I.;
Lu, Baisong;
Zhu, Qichao;
Truong, Cavatina;
Ty, Maria T.;
Arango, Nelson;
Chada, Kiran K.;
Bishop, Colin E.

Publication type:

Article

Trapping of messenger RNA by Fragile X Mental Retardation protein into cytoplasmic granules induces translation repression.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 24, p. 3007, doi. 10.1093/hmg/11.24.3007

By:

Mazroui, Rachid;
Huot, Marc-Etienne;
Tremblay, Sandra;
Filion, Christine;
Labelle, Yves;
Khandjian, Edouard W.

Publication type:

Article