Works matching IS 09646906 AND DT 2005 AND VI 14 AND IP 24

Results: 19

Mapping common regulatory variants to human haplotypes.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3963, doi. 10.1093/hmg/ddi420

By:

Pastinen, Tomi;
Ge, Bing;
Gurd, Scott;
Gaudin, Tiffany;
Dore, Carole;
Lemire, Mathieu;
Lepage, Pierre;
Harmsen, Eef;
Hudson, Thomas J.

Publication type:

Article

Meta-analysis of genome-wide linkage studies for quantitative lipid traits in African Americans.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3955, doi. 10.1093/hmg/ddi419

By:

Malhotra, Alka;
Coon, Hilary;
Feitosa, Mary F.;
Li, Wei-Dong;
North, Kari E.;
Price, R. Arlen;
Bouchard, Claude;
Hunt, Steven C.;
Wolford, Johanna K.

Publication type:

Article

T−13910 DNA variant associated with lactase persistence interacts with Oct-1 and stimulates lactase promoter activity in vitro.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3945, doi. 10.1093/hmg/ddi418

By:

Lewinsky, Rikke H.;
Jensen, Tine G.K.;
Møller, Jette;
Stensballe, Allan;
Olsen, Jørgen;
Troelsen, Jesper T.

Publication type:

Article

Scaffold protein harmonin (USH1C) provides molecular links between Usher syndrome type 1 and type 2.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3933, doi. 10.1093/hmg/ddi417

By:

Reiners, Jan;
van Wijk, Erwin;
Märker, Tina;
Zimmermann, Ulrike;
Jürgens, Karin;
te Brinke, Heleen;
Overlack, Nora;
Roepman, Ronald;
Knipper, Marlies;
Kremer, Hannie;
Wolfrum, Uwe

Publication type:

Article

Usherin, the defective protein in Usher syndrome type IIA, is likely to be a component of interstereocilia ankle links in the inner ear sensory cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3921, doi. 10.1093/hmg/ddi416

By:

Adato, Avital;
Lefèvre, Gaëlle;
Delprat, Benjamin;
Michel, Vincent;
Michalski, Nicolas;
Chardenoux, Sébastien;
Weil, Dominique;
El-Amraoui, Aziz;
Petit, Christine

Publication type:

Article

Deletion of the ANKRD15 gene at 9p24.3 causes parent-of-origin-dependent inheritance of familial cerebral palsy.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3911, doi. 10.1093/hmg/ddi415

By:

Lerer, Israela;
Sagi, Michal;
Meiner, Vardiella;
Cohen, Tirza;
Zlotogora, Joel;
Abeliovich, Dvorah

Publication type:

Article

Dazl binds in vivo to specific transcripts and can regulate the pre-meiotic translation of Mvh in germ cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3899, doi. 10.1093/hmg/ddi414

By:

Reynolds, Nicola;
Collier, Brian;
Maratou, Klio;
Bingham, Victoria;
Speed, Robert M.;
Taggart, Mary;
Semple, Colin A.;
Gray, Nicola K.;
Cooke, Howard J.

Publication type:

Article

Stress-induced alterations in parkin solubility promote parkin aggregation and compromise parkin's protective function.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3885, doi. 10.1093/hmg/ddi413

By:

Wang, Cheng;
Ko, Han Seok;
Thomas, Bobby;
Tsang, Fai;
Chew, Katherine C.M.;
Tay, Shiam-Peng;
Ho, Michelle W.L.;
Lim, Tit-Meng;
Soong, Tuck-Wah;
Pletnikova, Olga;
Troncoso, Juan;
Dawson, Valina L.;
Dawson, Ted M.;
Lim, Kah-Leong

Publication type:

Article

A loss of genome buffering capacity of Dahl salt-sensitive model to modulate blood pressure as a cause of hypertension.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3877, doi. 10.1093/hmg/ddi412

By:

Charron, Sophie;
Lambert, Raphaëlle;
Eliopoulos, Vasiliki;
Duong, Chenda;
Ménard, Annie;
Roy, Julie;
Deng, Alan Y.

Publication type:

Article

Retinal degeneration associated with RDH12 mutations results from decreased 11-cis retinal synthesis due to disruption of the visual cycle.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3865, doi. 10.1093/hmg/ddi411

By:

Thompson, Debra A.;
Janecke, Andreas R.;
Lange, Jessica;
Feathers, Kecia L.;
Hübner, Christian A.;
McHenry, Christina L.;
Stockton, David W.;
Rammesmayer, Gabriele;
Lupski, James R.;
Antinolo, Guillermo;
Ayuso, Carmen;
Baiget, Montserrat;
Gouras, Peter;
Heckenlively, John R.;
den Hollander, Anneke;
Jacobson, Samuel G.;
Lewis, Richard A.;
Sieving, Paul A.;
Wissinger, Bernd;
Yzer, Suzanne

Publication type:

Article

Targeted disruption of hepatic frataxin expression causes impaired mitochondrial function, decreased life span and tumor growth in mice.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3857, doi. 10.1093/hmg/ddi410

By:

Thierbach, René;
Schulz, Tim J.;
Isken, Frank;
Voigt, Anja;
Mietzner, Brun;
Drewes, Gunnar;
von Kleist-Retzow, Jürgen-Christoph;
Wiesner, Rudolf J.;
Magnuson, Mark A.;
Puccio, Hélène;
Pfeiffer, Andreas F.H.;
Steinberg, Pablo;
Ristow, Michael

Publication type:

Article

Molecular complementation of IL-12Rβ1 deficiency reveals functional differences between IL-12Rβ1 alleles including partial IL-12Rβ1 deficiency.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3847, doi. 10.1093/hmg/ddi409

By:

van de Vosse, Esther;
de Paus, Roelof A.;
van Dissel, Jaap T.;
Ottenhoff, Tom H.M.

Publication type:

Article

Evaluation of the RET regulatory landscape reveals the biological relevance of a HSCR-implicated enhancer.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3837, doi. 10.1093/hmg/ddi408

By:

Grice, Elizabeth A.;
Rochelle, Erin S.;
Green, Eric D.;
Chakravarti, Aravinda;
McCallion, Andrew S.

Publication type:

Article

Selective degeneration and nuclear localization of mutant huntingtin in the YAC128 mouse model of Huntington disease.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3823, doi. 10.1093/hmg/ddi407

By:

Van Raamsdonk, Jeremy M.;
Murphy, Zoe;
Slow, Elizabeth J.;
Leavitt, Blair R.;
Hayden, Michael R.

Publication type:

Article

A common haplotype at the CD36 locus is associated with high free fatty acid levels and increased cardiovascular risk in Caucasians.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3973, doi. 10.1093/hmg/ddi399

By:

Ma, Xiaowei;
Bacci, Simonetta;
Mlynarski, Wojciech;
Gottardo, Lucia;
Soccio, Teresa;
Menzaghi, Claudia;
Iori, Elisabetta;
Lager, Robert A.;
Shroff, Adhir R.;
Gervino, Ernest V.;
Nesto, Richard W.;
Johnstone, Michael T.;
Abumrad, Nada A.;
Avogaro, Angelo;
Trischitta, Vincenzo;
Doria, Alessandro

Publication type:

Article

Physiological identification of human transcripts translationally regulated by a specific microRNA.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3813, doi. 10.1093/hmg/ddi397

By:

Nakamoto, Mika;
Jin, Peng;
O'Donnell, William T.;
Warren, Stephen T.

Publication type:

Article

Endoplasmic reticulum stress and mitochondrial cell death pathways mediate A53T mutant alpha-synuclein-induced toxicity.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3801, doi. 10.1093/hmg/ddi396

By:

Smith, Wanli W.;
Jiang, Haibing;
Pei, Zhong;
Tanaka, Yuji;
Morita, Hokuto;
Sawa, Akira;
Dawson, Valina L.;
Dawson, Ted M.;
Ross, Christopher A.

Publication type:

Article

Frataxin deficiency alters heme pathway transcripts and decreases mitochondrial heme metabolites in mammalian cells.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3787, doi. 10.1093/hmg/ddi393

By:

Schoenfeld, Robert A.;
Napoli, Eleonora;
Wong, Alice;
Zhan, Shan;
Reutenauer, Laurence;
Morin, Dexter;
Buckpitt, Alan R.;
Taroni, Franco;
Lonnerdal, Bo;
Ristow, Michael;
Puccio, Hélène;
Cortopassi, Gino A.

Publication type:

Article

CDKL5/Stk9 kinase inactivation is associated with neuronal developmental disorders.

Published in:

Human Molecular Genetics, 2005, v. 14, n. 24, p. 3775, doi. 10.1093/hmg/ddi391

By:

Lin, Clark;
Franco, Brunella;
Rosner, Marsha Rich

Publication type:

Article