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