Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 10

Results: 11

Contrasting effects on HIF-1 α regulation by disease-causing pVHL mutations correlate with patterns of tumourigenesis in von Hippel-Lindau disease.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1029, doi. 10.1093/hmg/10.10.1029

By:

Clifford, Steven C.

Publication type:

Article

von Hippel-Lindau protein mutants linked to type 2C VHL disease preserve the ability to downregulate HIF.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1019, doi. 10.1093/hmg/10.10.1019

By:

Hoffman, Michael A.;
Ohh, Michael;
Yang, Haifeng;
Klco, Jeff M.;
Ivan, Mircea;
Kaelin, William G.

Publication type:

Article

Altered proteasomal function due to the expression of polyglutamine-expanded truncated N-terminal huntingtin induces apoptosis by caspase activation through mitochondrial cytochrome c release.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1049, doi. 10.1093/hmg/10.10.1049

By:

Jana, Nihar Ranjan

Publication type:

Article

Transgenic mice with an expanded CAG repeat controlled by the human AR promoter show polyglutamine nuclear inclusions and neuronal dysfunction without neuronal cell death.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1039, doi. 10.1093/hmg/10.10.1039

By:

Adachi, Hiroaki;
Kume, Akito;
Li, Mei;
Nakagomi, Yuji;
Niwa, Hisayoshi;
Do, Jun;
Sang, Chen;
Kobayashi, Yasushi;
Doyu, Manabu;
Sobue, Gen

Publication type:

Article

Trans-ethnic fine mapping of a quantitative trait locus for circulating angiotensin I-converting enzyme (ACE).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1077, doi. 10.1093/hmg/10.10.1077

By:

McKenzie, Colin A.

Publication type:

Article

Defect of histone acetyltransferase activity of the nuclear transcriptional coactivator CBP in Rubinstein-Taybi syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1071, doi. 10.1093/hmg/10.10.1071

By:

Murata, Takashi;
Kurokawa, Riki;
Krones, Anna;
Tatsumi, Ken;
Ishii, Masami;
Taki, Tomohiko;
Masuno, Mitsuo;
Ohashi, Hirofumi;
Yanagisawa, Masayoshi;
Rosenfeld, Michael G.;
Glass, Christopher K.;
Hayashi, Yasuhide

Publication type:

Article

DCX in PC12 cells: CREB-mediated transcription and neurite outgrowth.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1061, doi. 10.1093/hmg/10.10.1061

By:

Shmueli, Orit;
Gdalyahu, Amos;
Sorokina, Ksenia;
Nevo, Eviater;
Avivi, Aaron;
Reiner, Orly

Publication type:

Article

Induced myelination and demyelination in a conditional mouse model of Charcot-Marie-Tooth disease type 1A.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1007, doi. 10.1093/hmg/10.10.1007

By:

Perea, Javier

Publication type:

Article

Paternal monoallelic expression of PEG3 in the human placenta.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1093, doi. 10.1093/hmg/10.10.1093

By:

Hiby, Susan E.;
Lough, Maria;
Keverne, E. Barry;
Surani, M. Azim;
Loke, Yung Wai;
King, Ashley

Publication type:

Article

Histone H2A variants and the inactive X chromosome: identification of a second macroH2A variant.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1101, doi. 10.1093/hmg/10.10.1101

By:

Chadwick, Brian P.

Publication type:

Article

MECP2 truncating mutations cause histone H4 hyperacetylation in Rett syndrome.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 10, p. 1085, doi. 10.1093/hmg/10.10.1085

By:

Wan, Mimi;
Zhao, Keji;
Lee, Stephen Sung Jae;
Francke, Uta

Publication type:

Article