Works in Human Molecular Genetics, 2009, Vol 18, Issue 23

Results: 25

Common fragile sites are characterized by histone hypoacetylation.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4501, doi. 10.1093/hmg/ddp410

By:

Jiang, Yanwen;
Lucas, Isabelle;
Young, David J.;
Davis, Elizabeth M.;
Karrison, Theodore;
Rest, Joshua S.;
Le Beau, Michelle M.

Publication type:

Article

Genome-wide significant predictors of metabolites in the one-carbon metabolism pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4677, doi. 10.1093/hmg/ddp428

By:

Hazra, Aditi;
Kraft, Peter;
Lazarus, Ross;
Chen, Constance;
Chanock, Stephen J.;
Jacques, Paul;
Selhub, Jacob;
Hunter, David J.

Publication type:

Article

Interaction between environmental and genetic factors modulates schizophrenic endophenotypes in the Snap-25 mouse mutant blind-drunk.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4576, doi. 10.1093/hmg/ddp425

By:

Oliver, Peter L.;
Davies, Kay E.

Publication type:

Article

A genome-wide study of common SNPs and CNVs in cognitive performance in the CANTAB.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4650, doi. 10.1093/hmg/ddp413

By:

Need, Anna C.;
Attix, Deborah K.;
McEvoy, Jill M.;
Cirulli, Elizabeth T.;
Linney, Kristen L.;
Hunt, Priscilla;
Ge, Dongliang;
Heinzen, Erin L.;
Maia, Jessica M.;
Shianna, Kevin V.;
Weale, Michael E.;
Cherkas, Lynn F.;
Clement, Gail;
Spector, Tim D.;
Gibson, Greg;
Goldstein, David B.

Publication type:

Article

Pharmacological activation of PPARβ/δ stimulates utrophin A expression in skeletal muscle fibers and restores sarcolemmal integrity in mature mdx mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4640, doi. 10.1093/hmg/ddp431

By:

Miura, Pedro;
Chakkalakal, Joe V.;
Boudreault, Louise;
Bélanger, Guy;
Hébert, Richard L.;
Renaud, Jean-Marc;
Jasmin, Bernard J.

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 23, p. NP, doi. 10.1093/hmg/ddp485
Publication type:: Article

The ocular albinism type 1 (OA1) G-protein-coupled receptor functions with MART-1 at early stages of melanogenesis to control melanosome identity and composition.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4530, doi. 10.1093/hmg/ddp415

By:

Giordano, Francesca;
Bonetti, Ciro;
Surace, Enrico M.;
Marigo, Valeria;
Raposo, Graça

Publication type:

Article

Ku70 regulates Bax-mediated pathogenesis in laminin-α2-deficient human muscle cells and mouse models of congenital muscular dystrophy.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4467, doi. 10.1093/hmg/ddp399

By:

Vishnudas, Vivek K.;
Miller, Jeffrey Boone

Publication type:

Article

Mutant SOD1 in neuronal mitochondria causes toxicity and mitochondrial dynamics abnormalities.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4552, doi. 10.1093/hmg/ddp421

By:

Magrané, Jordi;
Hervias, Isabel;
Henning, Matthew S.;
Damiano, Maria;
Kawamata, Hibiki;
Manfredi, Giovanni

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 23, p. NP, doi. 10.1093/hmg/ddp487
Publication type:: Article

A mouse model for Meckel syndrome reveals Mks1 is required for ciliogenesis and Hedgehog signaling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4565, doi. 10.1093/hmg/ddp422

By:

Weatherbee, Scott D.;
Niswander, Lee A.;
Anderson, Kathryn V.

Publication type:

Article

Genetic variation in GPR133 is associated with height: genome wide association study in the self-contained population of Sorbs.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4662, doi. 10.1093/hmg/ddp423

By:

Tönjes, Anke;
Koriath, Moritz;
Schleinitz, Dorit;
Dietrich, Kerstin;
Böttcher, Yvonne;
Rayner, Nigel W.;
Almgren, Peter;
Enigk, Beate;
Richter, Olaf;
Rohm, Silvio;
Fischer-Rosinsky, Antje;
Pfeiffer, Andreas;
Hoffmann, Katrin;
Krohn, Knut;
Aust, Gabriela;
Spranger, Joachim;
Groop, Leif;
Blüher, Matthias;
Kovacs, Peter;
Stumvoll, Michael

Publication type:

Article

GIGYF2 gene disruption in mice results in neurodegeneration and altered insulin-like growth factor signaling.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4629, doi. 10.1093/hmg/ddp430

By:

Giovannone, Barbara;
Tsiaras, William G.;
de la Monte, Suzanne;
Klysik, Jan;
Lautier, Corinne;
Karashchuk, Galina;
Goldwurm, Stefano;
Smith, Robert J.

Publication type:

Article

X11β rescues memory and long-term potentiation deficits in Alzheimer's disease APPswe Tg2576 mice.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4492, doi. 10.1093/hmg/ddp408

By:

Mitchell, Jacqueline C.;
Ariff, Belall B.;
Yates, Darran M.;
Lau, Kwok-Fai;
Perkinton, Michael S.;
Rogelj, Boris;
Stephenson, John D.;
Miller, Christopher C.J.;
McLoughlin, Declan M.

Publication type:

Article

Genetic evidence for a role of adiponutrin in the metabolism of apolipoprotein B-containing lipoproteins.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4669, doi. 10.1093/hmg/ddp424

By:

Kollerits, Barbara;
Coassin, Stefan;
Beckmann, Noam D.;
Teumer, Alexander;
Kiechl, Stefan;
Döring, Angela;
Kavousi, Maryam;
Hunt, Steven C.;
Lamina, Claudia;
Paulweber, Bernhard;
Kutalik, Zoltán;
Nauck, Matthias;
van Duijn, Cornelia M.;
Heid, Iris M.;
Willeit, Johann;
Brandstätter, Anita;
Adams, Ted D.;
Mooser, Vincent;
Aulchenko, Yurii S.;
Völzke, Henry

Publication type:

Article

An increased frequency of the 5A allele in the promoter region of the MMP3 gene is associated with abdominal aortic aneurysms.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4688, doi. 10.1093/hmg/ddp439

By:

Deguara, Jean;
Burnand, Kevin G.;
Berg, Jonathan;
Green, Peter;
Lewis, Cathryn M.;
Chinien, Ganesh;
Waltham, Matthew;
Taylor, Peter;
Stern, Rowena F.;
Solomon, Ellen;
Smith, Alberto

Publication type:

Article

Myosin VI is required for the proper maturation and function of inner hair cell ribbon synapses.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4615, doi. 10.1093/hmg/ddp429

By:

Roux, Isabelle;
Hosie, Suzanne;
Johnson, Stuart L.;
Bahloul, Amel;
Cayet, Nadège;
Nouaille, Sylvie;
Kros, Corné J.;
Petit, Christine;
Safieddine, Saaid

Publication type:

Article

Lowe syndrome patient fibroblasts display Ocrl1-specific cell migration defects that cannot be rescued by the homologous Inpp5b phosphatase.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4478, doi. 10.1093/hmg/ddp407

By:

Coon, Brian G.;
Mukherjee, Debarati;
Hanna, Claudia B.;
Riese, David J.;
Lowe, Martin;
Aguilar, R. Claudio

Publication type:

Article

Missense mutations in the SH3TC2 protein causing Charcot-Marie-Tooth disease type 4C affect its localization in the plasma membrane and endocytic pathway.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4603, doi. 10.1093/hmg/ddp427

By:

Lupo, Vincenzo;
Galindo, Máximo I.;
Martínez-Rubio, Dolores;
Sevilla, Teresa;
Vílchez, Juan J.;
Palau, Francesc;
Espinós, Carmen

Publication type:

Article

Functional analysis of 5-lipoxygenase promoter repeat variants.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4521, doi. 10.1093/hmg/ddp414

By:

Vikman, Susanna;
Brena, Romulo M.;
Armstrong, Patrice;
Hartiala, Jaana;
Stephensen, Charles B.;
Allayee, Hooman

Publication type:

Article

CDKL5 influences RNA splicing activity by its association to the nuclear speckle molecular machinery.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4590, doi. 10.1093/hmg/ddp426

By:

Ricciardi, Sara;
Kilstrup-Nielsen, Charlotte;
Bienvenu, Thierry;
Jacquette, Aurélia;
Landsberger, Nicoletta;
Broccoli, Vania

Publication type:

Article

Pathogenic NAP57 mutations decrease ribonucleoprotein assembly in dyskeratosis congenita.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4546, doi. 10.1093/hmg/ddp416

By:

Grozdanov, Petar N.;
Fernandez-Fuentes, Narcis;
Fiser, Andras;
Meier, U. Thomas

Publication type:

Article

An allergy-associated polymorphism in a novel regulatory element enhances IL13 expression.

Published in:

Human Molecular Genetics, 2009, v. 18, n. 23, p. 4513, doi. 10.1093/hmg/ddp411

By:

Kiesler, Patricia;
Shakya, Arvind;
Tantin, Dean;
Vercelli, Donata

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 23, p. NP, doi. 10.1093/hmg/ddp488
Publication type:: Article

Cover Page.

Published in:: Human Molecular Genetics, 2009, v. 18, n. 23, p. NP, doi. 10.1093/hmg/ddp486
Publication type:: Article