Works matching IS 09646906 AND DT 2000 AND VI 9 AND IP 15

Results: 17

Laforin, defective in the progressive myoclonus epilepsy of Lafora type, is a dual-specificity phosphatase associated with polyribosomes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2251, doi. 10.1093/oxfordjournals.hmg.a018916

By:

Ganesh, Subramaniam

Publication type:

Article

Genetic dissection of a rat model for rheumatoid arthritis: significant gender influences on autosomal modifier loci.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2241, doi. 10.1093/oxfordjournals.hmg.a018915

By:

Furuya, Takefumi

Publication type:

Article

Identification of WTAP, a novel Wilms' tumour 1-associating protein.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2231, doi. 10.1093/oxfordjournals.hmg.a018914

By:

Little, Natalie A.

Publication type:

Article

Interaction between LIS1 and doublecortin, two lissencephaly gene products.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2205, doi. 10.1093/oxfordjournals.hmg.a018911

By:

Caspi, Michal

Publication type:

Article

Germline APC variants in patients with multiple colorectal adenomas, with evidence for the particular importance of E1317Q.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2215, doi. 10.1093/oxfordjournals.hmg.a018912

By:

Lamlum, Hanan;
Tassan, Nada;
Jaeger, Emma;
Frayling, Ian;
Sieber, Oliver;
Reza, Faisal Bin;
Eckert, Maria;
Rowan, Andrew;
Barclay, Ella;
Atkin, Wendy;
Williams, Christopher;
Gilbert, John;
Cheadle, Jeremy;
Bell, Jennie;
Houlston, Richard;
Bodmer, Walter;
Sampson, Julian;
Tomlinson, Ian

Publication type:

Article

RNA hyperediting and alternative splicing of hematopoietic cell phosphatase ( PTPN6) gene in acute myeloid leukemia.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2297, doi. 10.1093/oxfordjournals.hmg.a018921

By:

Beghini, Alessandro

Publication type:

Article

Deletion of azoospermia factor a (AZFa ) region of human Y chromosome caused by recombination between HERV15 proviruses.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2291, doi. 10.1093/oxfordjournals.hmg.a018920

By:

Sun, Chao

Publication type:

Article

Two imprinted gene mutations: three phenotypes.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2263, doi. 10.1093/oxfordjournals.hmg.a018917

By:

Cattanach, Bruce M.

Publication type:

Article

The transcriptional factor LBP-1c/CP2/LSF gene on chromosome 12 is a genetic determinant of Alzheimer's disease.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2275, doi. 10.1093/oxfordjournals.hmg.a018918

By:

Lambert, Jean-Charles;
Goumidi, Louisa;
Vrièze, Fabienne Wavrant-De;
Frigard, Bernard;
Harris, Judith M.;
Cummings, Alistair;
Coates, John;
Pasquier, Florence;
Cottel, Dominique;
Gaillac, Marianne;
Clair, David;
Mann, David M.A.;
Hardy, John;
Lendon, Corinne L.;
Amouyel, Philippe;
Chartier-Harlin, Marie-Christine

Publication type:

Article

Myotubularin, a phosphatase deficient in myotubular myopathy, acts on phosphatidylinositol 3-kinase and phosphatidylinositol 3-phosphate pathway.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2223, doi. 10.1093/oxfordjournals.hmg.a018913

By:

Blondeau, François

Publication type:

Article

Nuclear inclusions in oculopharyngeal muscular dystrophy consist of poly(A) binding protein 2 aggregates which sequester poly(A) RNA.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2321, doi. 10.1093/oxfordjournals.hmg.a018924

By:

Calado, Angelo

Publication type:

Article

Dissociation of the dystroglycan complex in caveolin-3-deficient limb girdle muscular dystrophy.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2335, doi. 10.1093/oxfordjournals.hmg.a018926

By:

Herrmann, Ralf

Publication type:

Article

Structural and functional analysis of mutations in alkaptonuria.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2341, doi. 10.1093/oxfordjournals.hmg.a018927

By:

Rodríguez, José M.

Publication type:

Article

Skeletal muscle sodium channel gating in mice deficient in myotonic dystrophy protein kinase.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2313, doi. 10.1093/oxfordjournals.hmg.a018923

By:

Mounsey, J. Paul

Publication type:

Article

Alzheimer's disease-associated presenilin 2 interacts with DRAL, an LIM-domain protein.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2281, doi. 10.1093/oxfordjournals.hmg.a018919

By:

Tanahashi, Hiroshi

Publication type:

Article

Identification and characterization of an ataxin-1-interacting protein: A1Up, a ubiquitin-like nuclear protein.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2305, doi. 10.1093/oxfordjournals.hmg.a018922

By:

Davidson, Jennifer D.;
Riley, Brigit;
Burright, Eric N.;
Duvick, Lisa A.;
Zoghbi, Huda Y.;
Orr, Harry T.

Publication type:

Article

Functional impairment of lens aquaporin in two families with dominantly inherited cataracts.

Published in:

Human Molecular Genetics, 2000, v. 9, n. 15, p. 2329, doi. 10.1093/oxfordjournals.hmg.a018925

By:

Francis, Peter

Publication type:

Article