Works matching IS 09646906 AND DT 2001 AND VI 10 AND IP 3

Results: 15

PTEN induces apoptosis and cell cycle arrest through phosphoinositol-3-kinase/Akt-dependent and -independent pathways.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 237, doi. 10.1093/hmg/10.3.237

By:

Weng, Liang-Ping;
Brown, Jessica L.;
Eng, Charis

Publication type:

Article

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 189, doi. 10.1093/hmg/10.3.189

By:

Tiso, Natascia

Publication type:

Article

Transient ectopic expression of PTEN in thyroid cancer cell lines induces cell cycle arrest and cell type-dependent cell death.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 251, doi. 10.1093/hmg/10.3.251

By:

Weng, Liang-Ping;
Gimm, Oliver;
Kum, Jennifer B.;
Smith, Wendy M.;
Zhou, Xiao-Ping;
Wynford-Thomas, David;
Leone, Gustavo;
Eng, Charis

Publication type:

Article

Maternal sex chromosome non-disjunction: evidence for X chromosome-specific risk factors.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 243, doi. 10.1093/hmg/10.3.243

By:

Thomas, N. Simon

Publication type:

Article

Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 283, doi. 10.1093/hmg/10.3.283

By:

Handschug, Katrin;
Sperling, Silke;
Yoon, Sung-Joo Kim;
Hennig, Steffen;
Clark, Adrian J.L.;
Huebner, Angela

Publication type:

Article

The spatial organization of human chromosomes within the nuclei of normal and emerin-mutant cells.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 211, doi. 10.1093/hmg/10.3.211

By:

Boyle, Shelagh;
Gilchrist, Susan;
Bridger, Joanna M.

Publication type:

Article

A translocation breakpoint cluster disrupts the newly defined 3 ′ end of the SNURF - SNRPN transcription unit on chromosome 15.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 201, doi. 10.1093/hmg/10.3.201

By:

Wirth, Jutta;
Back, Elke;
Huttenhofer, Alexander;
Nothwang, Hans-Gerd;
Lich, Christina;
Grob, Stephanie;
Henzel, Corinna;
Schinzel, Albert;
Kioschis, Petra;
Tommerup, Niels;
Ropers, Hans-Hilger;
Horsthemke, Bernhard;
Buiting, Karin

Publication type:

Article

Transgenic mice expressing mutant caveolin-3 show severe myopathy associated with increased nNOS activity.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 173, doi. 10.1093/hmg/10.3.173

By:

Sunada, Yoshihide

Publication type:

Article

Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 221, doi. 10.1093/hmg/10.3.221

By:

McGrath, John A.;
Duijf, Pascal H.G.;
Doetsch, Volker;
Irvine, Alan D.;
de Waal, Rob;
Vanmolkot, Kaate R.J.;
Wessagowit, Vesarat;
Kelly, Alexander;
Atherton, David J.;
Griffiths, W. Andrew D.;
Orlow, Seth J.;
van Haeringen, Arie;
Ausems, Margreet G.E.M.;
Yang, Annie;
McKeon, Frank;
Bamshad, Michael A.;
Brunner, Han G.;
Hamel, Ben C.J.;
van Bokhoven, Hans

Publication type:

Article

Distinct roles for two N-terminal cleaved domains in mitochondrial import of the yeast frataxin homolog, Yfh1p.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 259, doi. 10.1093/hmg/10.3.259

By:

Gordon, Donna M.;
Kogan, Mikhail;
Knight, Simon A.B.;
Dancis, Andrew;
Pain, Debkumar

Publication type:

Article

Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1 ) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 179, doi. 10.1093/hmg/10.3.179

By:

Mardy, Sek

Publication type:

Article

High resolution deletion analysis of constitutional DNA from neurofibromatosis type 2 (NF2) patients using microarray-CGH.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 271, doi. 10.1093/hmg/10.3.271

By:

Bruder, Carl E.G.;
Hirvelä, Carina;
Tapia-Paez, Isabel;
Fransson, Ingegerd;
Segraves, Richard;
Hamilton, Greg;
Zhang, Xiao Xiao;
Evans, D. Gareth;
Wallace, Andrew J.;
Baser, Michael;
Zucman-Rossi, Jessica;
Hergersberg, Martin;
Boltshauser, Eugene;
Papi, Laura;
Rouleau, Guy A.;
Poptodorov, George;
Jordanova, Albena;
Rask-Andersen, Helge;
Kluwe, Lan;
Mautner, Victor

Publication type:

Article

Mutations in the human forkhead transcription factor FOXE3 associated with anterior segment ocular dysgenesis and cataracts.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 231, doi. 10.1093/hmg/10.3.231

By:

Semina, Elena V.

Publication type:

Article

Mutations in the transcriptional activator EYA4 cause late-onset deafness at the DFNA10 locus.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 195, doi. 10.1093/hmg/10.3.195

By:

Wayne, Sigrid;
Robertson, Nahid G.;
DeClau, Frank;
Chen, Nancy;
Verhoeven, Kristien;
Prasad, Sai;
Tranebjärg, Lisbeth;
Morton, Cynthia C.;
Ryan, Allen F.;
Camp, Guy;
Smith, Richard J.H.

Publication type:

Article

Gentamicin-mediated suppression of Hurler syndrome stop mutations restores a low level of α -l -iduronidase activity and reduces lysosomal glycosaminoglycan accumulation.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 3, p. 291, doi. 10.1093/hmg/10.3.291

By:

Keeling, Kim M.;
Brooks, Doug A.;
Hopwood, John J.;
Li, Peining;
Thompson, Jerry N.;
Bedwell, David M.

Publication type:

Article