Works matching IS 09646906 AND DT 2006 AND VI 15 AND IP 24

Results: 11

ENU mutagenesis identifies mice with cardiac fibrosis and hepatic steatosis caused by a mutation in the mitochondrial trifunctional protein β-subunit.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3569, doi. 10.1093/hmg/ddl433

By:

Kao, Hsiao-Jung;
Cheng, Ching-Feng;
Chen, Yen-Hui;
Hung, Shuen-Iu;
Huang, Cheng-Chih;
Millington, David;
Kikuchi, Tateki;
Wu, Jer-Yuarn;
Chen, Yuan-Tsong

Publication type:

Article

Evidence for a colorectal cancer susceptibility locus on chromosome 3q21–q24 from a high-density SNP genome-wide linkage scan.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3592, doi. 10.1093/hmg/ddl435

By:

Kemp, Zoe;
Carvajal-Carmona, Luis;
Spain, Sarah;
Barclay, Ella;
Gorman, Margaret;
Martin, Lynn;
Jaeger, Emma;
Brooks, Neil;
Bishop, D. Timothy;
Thomas, Huw;
Tomlinson, Ian;
Papaemmanuil, Elli;
Webb, Emily;
Sellick, Gabrielle S.;
Wood, Wendy;
Evans, Gareth;
Lucassen, Anneke;
Maher, Eamonn R.;
Houlston, Richard S.

Publication type:

Article

Mutant huntingtin inhibits clathrin-independent endocytosis and causes accumulation of cholesterol in vitro and in vivo.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3578, doi. 10.1093/hmg/ddl434

By:

Trushina, Eugenia;
Singh, Raman Deep;
Dyer, Roy B.;
Cao, Sheng;
Shah, Vijay H.;
Parton, Robert G.;
Pagano, Richard E.;
McMurray, Cynthia T.

Publication type:

Article

Increased SK3 expression in DM1 lens cells leads to impaired growth through a greater calcium-induced fragility.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3559, doi. 10.1093/hmg/ddl432

By:

Rhodes, Jeremy D.;
Monckton, Darren G.;
McAbney, John P.;
Prescott, Alan R.;
Duncan, George

Publication type:

Article

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3544, doi. 10.1093/hmg/ddl431

By:

Tarrade, Anne;
Fassier, Coralie;
Courageot, Sabrina;
Charvin, Delphine;
Vitte, Jérémie;
Peris, Leticia;
Thorel, Alain;
Mouisel, Etienne;
Fonknechten, Nuria;
Roblot, Natacha;
Seilhean, Danielle;
Diérich, Andrée;
Hauw, Jean Jacques;
Melki, Judith

Publication type:

Article

Unexpected mosaicism of R201H-GNAS1 mutant-bearing cells in the testes underlie macro-orchidism without sexual precocity in McCune–Albright syndrome.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3538, doi. 10.1093/hmg/ddl430

By:

Rey, Rodolfo A.;
Venara, Marcela;
Coutant, Régis;
Trabut, Jean-Baptiste;
Rouleau, Stéphanie;
Lahlou, Najiba;
Sultan, Charles;
Limal, Jean-Marie;
Picard, Jean-Yves;
Lumbroso, Serge

Publication type:

Article

Haplotype-specific expression of exon 10 at the human MAPT locus.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3529, doi. 10.1093/hmg/ddl429

By:

Caffrey, Tara M.;
Joachim, Catharine;
Paracchini, Silvia;
Esiri, Margaret M.;
Wade-Martins, Richard

Publication type:

Article

Pax2 gene dosage influences cystogenesis in autosomal dominant polycystic kidney disease.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3520, doi. 10.1093/hmg/ddl428

By:

Stayner, Cherie;
Iglesias, Diana M.;
Goodyer, Paul R.;
Ellis, Lana;
Germino, Greg;
Zhou, Jing;
Eccles, Michael R.

Publication type:

Article

Intragenic deletion of Tgif causes defectsin brain development.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3508, doi. 10.1093/hmg/ddl427

By:

Kuang, Chenzhong;
Xiao, Yan;
Yang, Ling;
Chen, Qian;
Wang, Zhenzhen;
Conway, Simon J.;
Chen, Yan

Publication type:

Article

Haplotype spanning TTC12 and ANKK1, flanked by the DRD2 and NCAM1 loci, is strongly associated to nicotine dependence in two distinct American populations.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3498, doi. 10.1093/hmg/ddl426

By:

Gelernter, Joel;
Yu, Yi;
Weiss, Roger;
Brady, Kathleen;
Panhuysen, Carolien;
Yang, Bao-zhu;
Kranzler, Henry R.;
Farrer, Lindsay

Publication type:

Article

Itch genetically interacts with Notch1 in a mouse autoimmune disease model.

Published in:

Human Molecular Genetics, 2006, v. 15, n. 24, p. 3485, doi. 10.1093/hmg/ddl425

By:

Matesic, Lydia E.;
Haines, Diana C.;
Copeland, Neal G.;
Jenkins, Nancy A.

Publication type:

Article