Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 18

Results: 15

Rad50 depletion impacts upon ATR-dependent DNA damage responses.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2685, doi. 10.1093/hmg/ddi302

By:

Zhong, Hui;
Bryson, Alyson;
Eckersdorff, Mark;
Ferguson, David O.

Publication type:

Article

Aberrant recombination involving the granzyme locus occurs in Atm<sup>−/−</sup> T-cell lymphomas.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2671, doi. 10.1093/hmg/ddi301

By:

Winrow, Christopher J.;
Pankratz, Daniel G.;
Vibat, Cecile Rose T.;
Bowen, T.J.;
Callahan, Marie A.;
Warren, Amy J.;
Hilbush, Brian S.;
Wynshaw-Boris, Anthony;
Hasel, Karl W.;
Weaver, Zoë;
Lockhart, David J.;
Barlow, Carrolee

Publication type:

Article

Ribosomal frameshifting on MJD-1 transcripts with long CAG tracts.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2649, doi. 10.1093/hmg/ddi299

By:

Toulouse, André;
Au-Yeung, Faith;
Gaspar, Claudia;
Roussel, Julie;
Dion, Patrick;
Rouleau, Guy A.

Publication type:

Article

HoxB2 binds mutant SOD1 and is altered in transgenic model of ALS.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2629, doi. 10.1093/hmg/ddi297

By:

Zhai, Jinbin;
Lin, Hong;
Canete-Soler, Rafaela;
Schlaepfer, William W.

Publication type:

Article

A comparison of tagging methods and their tagging space.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2757, doi. 10.1093/hmg/ddi309

By:

Ke, Xiayi;
Miretti, Marcos M.;
Broxholme, John;
Hunt, Sarah;
Beck, Stephan;
Bentley, David R.;
Deloukas, Panos;
Cardon, Lon R.

Publication type:

Article

Molecular pathogenesis of Parkinson's disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2749, doi. 10.1093/hmg/ddi308

By:

Gandhi, Sonia;
Wood, Nicholas W.

Publication type:

Article

Mice lacking COX10 in skeletal muscle recapitulate the phenotype of progressive mitochondrial myopathies associated with cytochrome c oxidase deficiency.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2737, doi. 10.1093/hmg/ddi307

By:

Diaz, Francisca;
Thomas, Christine K.;
Garcia, Sofia;
Hernandez, Dayami;
Moraes, Carlos T.

Publication type:

Article

Novel glycogen synthase kinase 3 and ubiquitination pathways in progressive myoclonus epilepsy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2727, doi. 10.1093/hmg/ddi306

By:

Lohi, Hannes;
Ianzano, Leonarda;
Zhao, Xiao-Chu;
Chan, Elayne M.;
Turnbull, Julie;
Scherer, Stephen W.;
Ackerley, Cameron A.;
Minassian, Berge A.

Publication type:

Article

Functional effects of KCNJ11 mutations causing neonatal diabetes: enhanced activation by MgATP.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2717, doi. 10.1093/hmg/ddi305

By:

Proks, Peter;
Girard, Christophe;
Ashcroft, Frances M.

Publication type:

Article

Deletions on mouse Yq lead to upregulation of multiple X- and Y-linked transcripts in spermatids.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2705, doi. 10.1093/hmg/ddi304

By:

Ellis, Peter J.I.;
Clemente, Emily J.;
Ball, Penny;
Touré, Aminata;
Ferguson, Lydia;
Turner, James M.A.;
Loveland, Kate L.;
Affara, Nabeel A.;
Burgoyne, Paul S.

Publication type:

Article

Bezafibrate increases very-long-chain acyl-CoA dehydrogenase protein and mRNA expression in deficient fibroblasts and is a potential therapy for fatty acid oxidation disorders.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2695, doi. 10.1093/hmg/ddi303

By:

Djouadi, F.;
Aubey, F.;
Schlemmer, D.;
Ruiter, J.P.N.;
Wanders, R.J.A.;
Strauss, A.W.;
Bastin, Jean

Publication type:

Article

Sense and antisense transcripts of the apolipoprotein E gene in normal and ApoE knockout mice, their expression after spinal cord injury and corresponding human transcripts.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2661, doi. 10.1093/hmg/ddi296

By:

Seitz, Alexander;
Gourevitch, Dmitri;
Zhang, Xiang-Ming;
Clark, Lise;
Chen, Pan;
Kragol, Maja;
Levenkova, Natasha;
Rux, John;
Samulewicz, Stefan;
Heber-Katz, Ellen

Publication type:

Article

Functional promoter SNPs in cell cycle checkpoint genes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2641

By:

Bélanger, Hélène;
Beaulieu, Patrick;
Moreau, Claudia;
Labuda, Damian;
Hudson, Thomas J.;
Sinnett, Daniel

Publication type:

Article

The establishment of a predictive mutational model of the forkhead domain through the analyses of FOXC2 missense mutations identified in patients with hereditary lymphedema with distichiasis.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2619, doi. 10.1093/hmg/ddi295

By:

Berry, Fred B.;
Tamimi, Yahya;
Carle, Michelle V.;
Lehmann, Ordan J.;
Walter, Michael A.

Publication type:

Article

Functional interaction between −629C/A, −971G/A and −1337C/T polymorphisms in the CETP gene is a major determinant of promoter activity and plasma CETP concentration in the REGRESS Study.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 18, p. 2607, doi. 10.1093/hmg/ddi291

By:

Frisdal, Eric;
Klerkx, Anke H.E.M.;
Goff, Wilfried Le;
Tanck, Michael W.T.;
Lagarde, Jean-Pierre;
Jukema, J. Wouter;
Kastelein, John J.P.;
Chapman, M. John;
Guerin, Maryse

Publication type:

Article