Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 21

Results: 18

In vivo misregulation of genes involved in apoptosis, development and oxidative stress in mice lacking both functional Werner syndrome protein and poly(ADP-ribose) polymerase-1.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3293

By:

Deschênes, François;
Massip, Laurent;
Garand, Chantal;
Lebel, Michel

Publication type:

Article

High-density SNP haplotyping suggests altered regulation of tau gene expression in progressive supranuclear palsy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3281, doi. 10.1093/hmg/ddi361

By:

Rademakers, Rosa;
Melquist, Stacey;
Cruts, Marc;
Theuns, Jessie;
Del-Favero, Jurgen;
Poorkaj, Parvoneh;
Baker, Matt;
Sleegers, Kristel;
Crook, Richard;
De Pooter, Tim;
Kacem, Samira Bel;
Adamson, Jennifer;
Van den Bossche, Dirk;
Van den Broeck, Marleen;
Gass, Jennifer;
Corsmit, Ellen;
De Rijk, Peter;
Thomas, Natalie;
Engelborghs, Sebastiaan;
Heckman, Michael

Publication type:

Article

Quality control of fibrinogen secretion in the molecular pathogenesis of congenital afibrinogenemia.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3271, doi. 10.1093/hmg/ddi360

By:

Vu, Dung;
Di Sanza, Corinne;
Caille, Dorothée;
de Moerloose, Philippe;
Scheib, Holger;
Meda, Paolo;
Neerman-Arbez, Marguerite

Publication type:

Article

Mitochondrial succinate is instrumental for HIF1α nuclear translocation in SDHA-mutant fibroblasts under normoxic conditions.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3263, doi. 10.1093/hmg/ddi359

By:

Brière, Jean-Jacques;
Favier, Judith;
Bénit, Paule;
Ghouzzi, Vincent El;
Lorenzato, Annalisa;
Rabier, Daniel;
Di Renzo, Maria Flavia;
Gimenez-Roqueplo, Anne-Paule;
Rustin, Pierre

Publication type:

Article

No widespread induction of cell death genes occurs in pure motoneurons in an amyotrophic lateral sclerosis mouse model.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3309, doi. 10.1093/hmg/ddi357

By:

Perrin, Florence E.;
Boisset, Gaelle;
Docquier, Mylene;
Schaad, Olivier;
Descombes, Patrick;
Kato, Ann C.

Publication type:

Article

A splice form of polycystin-2, lacking exon 7, does not interact with polycystin-1.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3249, doi. 10.1093/hmg/ddi356

By:

Hackmann, Karl;
Markoff, Arseni;
Qian, Feng;
Bogdanova, Nadia;
Germino, Gregory G.;
Pennekamp, Petra;
Dworniczak, Bernd;
Horst, Jürgen;
Gerke, Volker

Publication type:

Article

Ribonucleoprotein particle formation is necessary but not sufficient for LINE-1 retrotransposition.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3237, doi. 10.1093/hmg/ddi354

By:

Kulpa, Deanna A.;
Moran, John V.

Publication type:

Article

Hypothetical LOC387715 is a second major susceptibility gene for age-related macular degeneration, contributing independently of complement factor H to disease risk.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3227, doi. 10.1093/hmg/ddi353

By:

Rivera, Andrea;
Fisher, Sheila A.;
Fritsche, Lars G.;
Keilhauer, Claudia N.;
Lichtner, Peter;
Meitinger, Thomas;
Weber, Bernhard H.F.

Publication type:

Article

Association of the IL12RB1 promoter polymorphisms with increased risk of atopic dermatitis and other allergic phenotypes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3149, doi. 10.1093/hmg/ddi347

By:

Takahashi, Naomi;
Akahoshi, Mitsuteru;
Matsuda, Akira;
Ebe, Kouji;
Inomata, Naoko;
Obara, Kazuhiko;
Hirota, Tomomitsu;
Nakashima, Kazuko;
Shimizu, Makiko;
Tamari, Mayumi;
Doi, Satoru;
Miyatake, Akihiko;
Enomoto, Tadao;
Nakashima, Hitoshi;
Ikezawa, Zenro;
Shirakawa, Taro

Publication type:

Article

Sulfatases and sulfatase modifying factors: an exclusive and promiscuous relationship.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3203, doi. 10.1093/hmg/ddi351

By:

Sardiello, M.;
Annunziata, I.;
Roma, G.;
Ballabio, A.

Publication type:

Article

Distribution of the strength of selection against amino acid replacements in human proteins.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3191, doi. 10.1093/hmg/ddi350

By:

Yampolsky, Lev Y.;
Kondrashov, Fyodor A.;
Kondrashov, Alexey S.

Publication type:

Article

Dilated cardiomyopathy in the nmd mouse: transgenic rescue and QTLs that improve cardiac function and survival.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3179, doi. 10.1093/hmg/ddi349

By:

Maddatu, Terry P.;
Garvey, Sean M.;
Schroeder, David G.;
Zhang, Wiedong;
Kim, Soh-Yule;
Nicholson, Anthony I.;
Davis, Crystal J.;
Cox, Gregory A.

Publication type:

Article

Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3161, doi. 10.1093/hmg/ddi348

By:

Van Agtmael, Tom;
Schlötzer-Schrehardt, Ursula;
McKie, Lisa;
Brownstein, David G.;
Lee, Angela W.;
Cross, Sally H.;
Sado, Yoshikazu;
Mullins, John J.;
Pöschl, Ernst;
Jackson, Ian J.

Publication type:

Article

ZNF217 suppresses cell death associated with chemotherapy and telomere dysfunction.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3219, doi. 10.1093/hmg/ddi352

By:

Huang, Guiqing;
Krig, Sheryl;
Kowbel, David;
Xu, Hongmei;
Hyun, Bill;
Volik, Stas;
Feuerstein, Burt;
Mills, Gordon B.;
Stokoe, David;
Yaswen, Paul;
Collins, Colin

Publication type:

Article

Interspecies synteny mapping identifies a quantitative trait locus for bone mineral density on human chromosome Xp22.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3141, doi. 10.1093/hmg/ddi346

By:

Parsons, Claire A.;
Mroczkowski, H. Joel;
McGuigan, Fiona E.A.;
Albagha, Omar M.E.;
Manolagas, Stavros;
Reid, David M.;
Ralston, Stuart H.;
Reis, Robert J. Shmookler

Publication type:

Article

Cellular differentiation hierarchies in normal and culture-adapted human embryonic stem cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3129, doi. 10.1093/hmg/ddi345

By:

Enver, Tariq;
Soneji, Shamit;
Joshi, Chirag;
Brown, John;
Iborra, Francisco;
Orntoft, Torben;
Thykjaer, Thomas;
Maltby, Edna;
Smith, Kath;
Dawud, Raed Abu;
Jones, Mark;
Matin, Maryam;
Gokhale, Paul;
Draper, Jonathan;
Andrews, Peter W.

Publication type:

Article

Pathogenetic mechanisms of hematological abnormalities of patients with MYH9 mutations.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3169, doi. 10.1093/hmg/ddi344

By:

Pecci, Alessandro;
Canobbio, Ilaria;
Balduini, Alessandra;
Stefanini, Lucia;
Cisterna, Barbara;
Marseglia, Carmela;
Noris, Patrizia;
Savoia, Anna;
Balduini, Carlo L.;
Torti, Mauro

Publication type:

Article

Recruitment of katanin p60 by phosphorylated NDEL1, an LIS1 interacting protein, is essential for mitotic cell division and neuronal migration.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 21, p. 3113, doi. 10.1093/hmg/ddi339

By:

Toyo-Oka, Kazuhito;
Sasaki, Shinji;
Yano, Yoshihisa;
Mori, Daisuke;
Kobayashi, Takuya;
Toyoshima, Yoko Y.;
Tokuoka, Suzumi M.;
Ishii, Satoshi;
Shimizu, Takao;
Muramatsu, Masami;
Hiraiwa, Noriko;
Yoshiki, Atsushi;
Wynshaw-Boris, Anthony;
Hirotsune, Shinji

Publication type:

Article