Works matching IS 09646906 AND DT 2004 AND VI 13 AND IP 3

Results: 12

Limited capacity of the nuclear matrix to bind telomere repeat binding factor TRF1 may restrict the proliferation of mortal human fibroblasts.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 285

By:

Okabe, Jun;
Eguchi, Akiko;
Wadhwa, Renu;
Rakwal, Randeep;
Tsukinoki, Rumi;
Hayakawa, Takao;
Nakanishi, Mahito

Publication type:

Article

Defining haplotype blocks and tag single-nucleotide polymorphisms in the human genome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 335, doi. 10.1093/hmg/ddh035

By:

Schulze, Thomas G.;
Zhang, Kui;
Chen, Yu-Sheng;
Akula, Nirmala;
Sun, Fengzhu;
McMahon, Francis J.

Publication type:

Article

Defective bone mineralization and osteopenia in young adult FGFR3−/− mice.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 271

By:

Valverde-Franco, Gladys;
Liu, Hanlong;
Davidson, David;
Chai, Sen;
Valderrama-Carvajal, Hector;
Goltzman, David;
Ornitz, David M.;
Henderson, Janet E.

Publication type:

Article

Temporal gene expression profiling of dystrophin-deficient (mdx) mouse diaphragm identifies conserved and muscle group-specific mechanisms in the pathogenesis of muscular dystrophy.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 257, doi. 10.1093/hmg/ddh033

By:

Porter, John D.;
Merriam, Anita P.;
Leahy, Patrick;
Gong, Bendi;
Feuerman, Jason;
Cheng, Georgiana;
Khanna, Sangeeta

Publication type:

Article

An unusual N-terminal deletion of the laminin α3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 365

By:

McLean, W. H. Irwin;
Irvine, Alan D.;
Hamill, Kevin J.;
Whittock, Neil V.;
Coleman-Campbell, Carrie M.;
Mellerio, Jemima E.;
Ashton, Gabrielle S.;
Dopping-Hepenstal, Patricia J. H.;
Eady, Robin A. J.;
Jamil, Tanvir;
Phillips, Roderic J.;
Shabbir, S. Ghulam;
Haroon, Tahir S.;
Khurshid, Khawar;
Moore, Jonathan E.;
Page, Brian;
Darling, Jonathan;
Atherton, David J.;
van Steensel, Maurice A. M.;
Munro, Colin S.

Publication type:

Article

Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot–Marie–Tooth neuropathy type 4B2/11p15.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 363

By:

Senderek, Jan;
Bergmann, Carsten;
Weber, Susanne;
Ketelsen, Uwe-Peter;
Schorle, Hubert;
Rudnik-Schöneborn, Sabine;
Büttner, Reinhard;
Buchheim, Eckhard;
Zerres, Klaus

Publication type:

Article

Expression of complement components in the peripheral nervous system.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 295

By:

de Jonge, Rosalein R.;
van Schaik, Ivo N.;
Vreijling, Jeroen P.;
Troost, Dirk;
Baas, Frank

Publication type:

Article

Developmentally regulated functions of the H19 differentially methylated domain.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 353

By:

Vernucci, Maria;
Cerrato, Flavia;
Pedone, Paolo V.;
Dandolo, Luisa;
Bruni, Carmelo B.;
Riccio, Andrea

Publication type:

Article

Mitochondrial complex I mutations in Caenorhabditis elegans produce cytochrome c oxidase deficiency, oxidative stress and vitamin-responsive lactic acidosis.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 303

By:

Grad, Leslie I.;
Lemire, Bernard D.

Publication type:

Article

Two essential splice lariat branchpoint sequences in one intron in a xeroderma pigmentosum DNA repair gene: mutations result in reduced XPC mRNA levels that correlate with cancer risk.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 343

By:

Khan, Sikandar G.;
Metin, Ahmet;
Gozukara, Engin;
Inui, Hiroki;
Shahlavi, Tala;
Muniz-Medina, Vanessa;
Baker, Carl C.;
Ueda, Takahiro;
Aiken, Juliet R.;
Schneider, Thomas D.;
Kraemer, Kenneth H.

Publication type:

Article

Mutations in the human RAX homeobox gene in a patient with anophthalmia and sclerocornea.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 315

By:

Voronina, Vera A.;
Kozhemyakina, Elena A.;
O'Kernick, Christina M.;
Kahn, Natan D.;
Wenger, Sharon L.;
Linberg, John V.;
Schneider, Adele S.;
Mathers, Peter H.

Publication type:

Article

Expression and molecular characterization of alternative transcripts of the ARHGEF5/TIM oncogene specific for human breast cancer.

Published in:

Human Molecular Genetics, 2004, v. 13, n. 3, p. 323

By:

Debily, Marie-Anne;
Camarca, Alessandra;
Ciullo, Marina;
Mayer, Claudine;
El Marhomy, Sandrine;
Ba, Ismaila;
Jalil, Abdelali;
Anzisi, Annamaria;
Guardiola, John;
Piatier-Tonneau, Dominique

Publication type:

Article