Works matching IS 09646906 AND DT 2010 AND VI 19 AND IP 24

Results: 22

Ablation of the Sam68 gene impairs female fertility and gonadotropin-dependent follicle development.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4886, doi. 10.1093/hmg/ddq422

By:

Bianchi, Enrica;
Barbagallo, Federica;
Valeri, Claudia;
Geremia, Raffaele;
Salustri, Antonietta;
De Felici, Massimo;
Sette, Claudio

Publication type:

Article

The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4759, doi. 10.1093/hmg/ddq402

By:

Schütz, Melanie;
Scimemi, Pietro;
Majumder, Paromita;
De Siati, Romolo Daniele;
Crispino, Giulia;
Rodriguez, Laura;
Bortolozzi, Mario;
Santarelli, Rosamaria;
Seydel, Anke;
Sonntag, Stephan;
Ingham, Neil;
Steel, Karen P.;
Willecke, Klaus;
Mammano, Fabio

Publication type:

Article

Differences in RDS trafficking, assembly and function in cones versus rods: insights from studies of C150S-RDS.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4799, doi. 10.1093/hmg/ddq410

By:

Chakraborty, Dibyendu;
Conley, Shannon M.;
Stuck, Michael W.;
Naash, Muna I.

Publication type:

Article

A genome-wide association study reveals susceptibility variants for non-small cell lung cancer in the Korean population.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4948, doi. 10.1093/hmg/ddq421

By:

Yoon, Kyong-Ah;
Park, Jae Hee;
Han, Jihye;
Park, Sohee;
Lee, Geon Kook;
Han, Ji-Youn;
Zo, Jae Ill;
Kim, Jeongseon;
Lee, Jong Eun;
Takahashi, Atsushi;
Kubo, Michiaki;
Nakamura, Yusuke;
Lee, Jin Soo

Publication type:

Article

Genetic determinants of HSP70 gene expression following heat shock.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4939, doi. 10.1093/hmg/ddq418

By:

Maugeri, Narelle;
Radhakrishnan, Jayachandran;
Knight, Julian C.

Publication type:

Article

Differential effects of alendronate and losartan therapy on osteopenia and aortic aneurysm in mice with severe Marfan syndrome.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4790, doi. 10.1093/hmg/ddq409

By:

Nistala, Harikiran;
Lee-Arteaga, Sui;
Carta, Luca;
Cook, Jason R.;
Smaldone, Silvia;
Siciliano, Gabriella;
Rifkin, Aaron N.;
Dietz, Harry C.;
Rifkin, Daniel B.;
Ramirez, Francesco

Publication type:

Article

Subscription Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq489
Publication type:: Article

An examination of wild-type SOD1 in modulating the toxicity and aggregation of ALS-associated mutant SOD1.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4774, doi. 10.1093/hmg/ddq408

By:

Prudencio, Mercedes;
Durazo, Armando;
Whitelegge, Julian P.;
Borchelt, David R.

Publication type:

Article

Measurement methods and accuracy in copy number variation: failure to replicate associations of beta-defensin copy number with Crohn's disease.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4930, doi. 10.1093/hmg/ddq411

By:

Aldhous, Marian C.;
Abu Bakar, Suhaili;
Prescott, Natalie J.;
Palla, Raquel;
Soo, Kimberley;
Mansfield, John C.;
Mathew, Christopher G.;
Satsangi, Jack;
Armour, John A.L.

Publication type:

Article

Cover Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq485
Publication type:: Article

Genome-wide association study for adiponectin levels in Filipino women identifies CDH13 and a novel uncommon haplotype at KNG1–ADIPOQ.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4955, doi. 10.1093/hmg/ddq423

By:

Wu, Ying;
Li, Yun;
Lange, Ethan M.;
Croteau-Chonka, Damien C.;
Kuzawa, Christopher W.;
McDade, Thomas W.;
Qin, Li;
Curocichin, Ghenadie;
Borja, Judith B.;
Lange, Leslie A.;
Adair, Linda S.;
Mohlke, Karen L.

Publication type:

Article

A strong role for the ABCG2 gene in susceptibility to gout in New Zealand Pacific Island and Caucasian, but not Māori, case and control sample sets.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4813, doi. 10.1093/hmg/ddq412

By:

Phipps-Green, Amanda J.;
Hollis-Moffatt, Jade E.;
Dalbeth, Nicola;
Merriman, Marilyn E.;
Topless, Ruth;
Gow, Peter J.;
Harrison, Andrew A.;
Highton, John;
Jones, Peter B.B.;
Stamp, Lisa K.;
Merriman, Tony R.

Publication type:

Article

Hydroureternephrosis due to loss of Sox9-regulated smooth muscle cell differentiation of the ureteric mesenchyme.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4918, doi. 10.1093/hmg/ddq426

By:

Airik, Rannar;
Trowe, Mark-Oliver;
Foik, Anna;
Farin, Henner F.;
Petry, Marianne;
Schuster-Gossler, Karin;
Schweizer, Michaela;
Scherer, Gerd;
Kist, Ralf;
Kispert, Andreas

Publication type:

Article

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4837, doi. 10.1093/hmg/ddq414

By:

Fassone, Elisa;
Duncan, Andrew J.;
Taanman, Jan-Willem;
Pagnamenta, Alistair T.;
Sadowski, Michael I.;
Holand, Tatjana;
Qasim, Waseem;
Rutland, Paul;
Calvo, Sarah E.;
Mootha, Vamsi K.;
Bitner-Glindzicz, Maria;
Rahman, Shamima

Publication type:

Article

Contents Page.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq483
Publication type:: Article

Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4861, doi. 10.1093/hmg/ddq419

By:

Gegg, Matthew E.;
Cooper, J. Mark;
Chau, Kai-Yin;
Rojo, Manuel;
Schapira, Anthony H.V.;
Taanman, Jan-Willem

Publication type:

Article

A single postnatal injection of oxytocin rescues the lethal feeding behaviour in mouse newborns deficient for the imprinted Magel2 gene.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4895, doi. 10.1093/hmg/ddq424

By:

Schaller, Fabienne;
Watrin, Françoise;
Sturny, Rachel;
Massacrier, Annick;
Szepetowski, Pierre;
Muscatelli, Françoise

Publication type:

Article

Molecular networks implicated in speech-related disorders: FOXP2 regulates the SRPX2/uPAR complex.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4848, doi. 10.1093/hmg/ddq415

By:

Roll, Patrice;
Vernes, Sonja C.;
Bruneau, Nadine;
Cillario, Jennifer;
Ponsole-Lenfant, Magali;
Massacrier, Annick;
Rudolf, Gabrielle;
Khalife, Manal;
Hirsch, Edouard;
Fisher, Simon E.;
Szepetowski, Pierre

Publication type:

Article

Correction of CNS defects in the MPSII mouse model via systemic enzyme replacement therapy.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4871, doi. 10.1093/hmg/ddq420

By:

Polito, Vinicia Assunta;
Abbondante, Serena;
Polishchuk, Roman S.;
Nusco, Edoardo;
Salvia, Rosaria;
Cosma, Maria Pia

Publication type:

Article

Editorial Board.

Published in:: Human Molecular Genetics, 2010, v. 19, n. 24, p. NP, doi. 10.1093/hmg/ddq487
Publication type:: Article

A feedback loop regulates splicing of the spinal muscular atrophy-modifying gene, SMN2.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4906, doi. 10.1093/hmg/ddq425

By:

Jodelka, Francine M.;
Ebert, Allison D.;
Duelli, Dominik M.;
Hastings, Michelle L.

Publication type:

Article

A centronuclear myopathy-dynamin 2 mutation impairs skeletal muscle structure and function in mice.

Published in:

Human Molecular Genetics, 2010, v. 19, n. 24, p. 4820, doi. 10.1093/hmg/ddq413

By:

Durieux, Anne-Cécile;
Vignaud, Alban;
Prudhon, Bernard;
Viou, Mai Thao;
Beuvin, Maud;
Vassilopoulos, Stéphane;
Fraysse, Bodvaël;
Ferry, Arnaud;
Lainé, Jeanne;
Romero, Norma B.;
Guicheney, Pascale;
Bitoun, Marc

Publication type:

Article