Works matching IS 09646906 AND DT 2002 AND VI 11 AND IP 19

Results: 15

Nucleocytoplasmic transfer of the NF2 tumor suppressor protein merlin is regulated by exon 2 and a CRM1-dependent nuclear export signal in exon 15.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2269, doi. 10.1093/hmg/11.19.2269

By:

Kressel, Michael;
Schmucker, Beatrice

Publication type:

Article

Functional substitution for TAFII250 by a retroposed homolog that is expressed in human spermatogenesis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2341, doi. 10.1093/hmg/11.19.2341

By:

Wang, P. Jeremy;
Page, David C.

Publication type:

Article

Poly(ADP-ribose) polymerase 2 localizes to mammalian active centromeres and interacts with PARP-1, Cenpa, Cenpb and Bub3, but not Cenpc.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2319, doi. 10.1093/hmg/11.19.2319

By:

Saxena, Alka;
Wong, Lee H.;
Kalitsis, Paul;
Earle, Elizabeth;
Shaffer, Lisa G.;
Choo, K.H. Andy

Publication type:

Article

Mutations of the GREAT gene cause cryptorchidism.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2309, doi. 10.1093/hmg/11.19.2309

By:

Gorlov, Ivan P.;
Kamat, Aparna;
Bogatcheva, Natalia V.;
Jones, Eric;
Lamb, Dolores J.;
Truong, Anne;
Bishop, Colin E.;
McElreavey, Ken;
Agoulnik, Alexander I.

Publication type:

Article

Linkage disequilibrium between polymorphisms in the human TNFRSF1B gene and their association with bone mass in perimenopausal women.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2289, doi. 10.1093/hmg/11.19.2289

By:

Albagha, Omar M.E.;
Tasker, Paul N.;
McGuigan, Fiona E.A.;
Reid, David M.;
Ralston, Stuart H

Publication type:

Article

Identification of a presymptomatic molecular phenotype in Hdh CAG knock-in mice.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2233, doi. 10.1093/hmg/11.19.2233

By:

Fossale, Elisa;
Wheeler, Vanessa C.;
Vrbanac, Vladimir;
Lebel, Lori-Anne;
Teed, Allison;
Mysore, Jayalakshmi S.;
Gusella, James F.;
MacDonald, Marcy E.;
Persichetti, Francesca

Publication type:

Article

Evaluating test statistics to select interesting genes in microarray experiments† This paper is part of the Microarray Report Special Series. See Orr, H.J. (2002) Hum. Mol. Genet., 11: 1909–1910.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2223, doi. 10.1093/hmg/11.19.2223

By:

Kooperberg, Charles;
Sipione, Simonetta;
LeBlanc, Michael;
Strand, Andrew D.;
Cattaneo, Elena;
Olson, James M.

Publication type:

Article

Estimating the statistical significance of gene expression changes observed with oligonucleotide arrays† This paper is part of the Microarray Report Special Series. See Orr, H.J. (2002) Hum. Mol. Genet., 11: 1909–1910.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2207, doi. 10.1093/hmg/11.19.2207

By:

Strand, Andrew D.;
Olson, James M.;
Kooperberg, Charles

Publication type:

Article

PRODH mutations and hyperprolinemia in a subset of schizophrenic patients.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2243, doi. 10.1093/hmg/11.19.2243

By:

Jacquet, Hélène;
Raux, Grégory;
Thibaut, Florence;
Hecketsweiler, Bernadette;
Houy, Emmanuelle;
Demilly, Caroline;
Haouzir, Sadeq;
Allio, Gabrielle;
Fouldrin, Gael;
Drouin, Valérie;
Bou, Jacqueline;
Petit, Michel;
Campion, Dominique;
Frébourg, Thierry

Publication type:

Article

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2331, doi. 10.1093/hmg/11.19.2331

By:

Grubenmann, Claudia E.;
Frank, Christian G.;
Kjaergaard, Susanne;
Berger, Eric G.;
Aebi, Markus;
Hennet, Thierry

Publication type:

Article

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2297, doi. 10.1093/hmg/11.19.2297

By:

Buj-Bello, Anna;
Furling, Denis;
Tronchère, Hélène;
Laporte, Jocelyn;
Lerouge, Thierry;
Butler-Browne, Gillian S.;
Mandel, Jean-Louis

Publication type:

Article

Modulation of polyglutamine-induced cell death by genes identified by expression profiling.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2279, doi. 10.1093/hmg/11.19.2279

By:

Kita, Hiroko;
Carmichael, Jenny;
Swartz, Jina;
Muro, Shizuko;
Wyttenbach, Andreas;
Matsubara, Kenichi;
Rubinsztein, David C.;
Kato, Kikuya

Publication type:

Article

Multiple susceptibility loci for multiple sclerosis.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2251

By:

Haines, Jonathan L.;
Bradford, Yuki;
Garcia, Melissa E.;
Reed, Allison D.;
Neumeister, Elizabeth;
Pericak-Vance, Margaret A.;
Rimmler, Jacqueline B.;
Menold, Marissa M.;
Martin, Eden R.;
Oksenberg, Jorge R.;
Barcellos, Lisa F.;
Lincoln, Robin;
Hauser, Stephen L.

Publication type:

Article

Fine mapping of a multiple sclerosis locus to 2.5 Mb on chromosome 17q22–q24.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2257, doi. 10.1093/hmg/11.19.2257

By:

Saarela, Janna;
Schoenberg Fejzo, Marlena;
Chen, Daniel;
Finnilä, Saara;
Parkkonen, Maikki;
Kuokkanen, Satu;
Sobel, Eric;
Tienari, Pentti J.;
Sumelahti, Marja-Liisa;
Wikström, Juhani;
Elovaara, Irina;
Koivisto, Keijo;
Pirttilä, Tuula;
Reunanen, Mauri;
Palotie, Aarno;
Peltonen, Leena

Publication type:

Article

Validation in mesenchymal progenitor cells of a mutation-independent ex vivo approach to gene therapy for osteogenesis imperfecta.

Published in:

Human Molecular Genetics, 2002, v. 11, n. 19, p. 2201, doi. 10.1093/hmg/11.19.2201

By:

Millington-Ward, Sophia;
Allers, Carolina;
Tuohy, Gearóid;
Conget, Paulette;
Allen, Danny;
McMahon, Helena P.;
Kenna, Paul F.;
Humphries, Peter;
Farrar, G. Jane

Publication type:

Article