Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 17

Results: 15

Als2 mRNA splicing variants detected in KO mice rescue severe motor dysfunction phenotype in Als2 knock-down zebrafish.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2691, doi. 10.1093/hmg/ddn171

By:

Gros-Louis, Francois;
Kriz, Jasna;
Kabashi, Edor;
McDearmid, Jonathan;
Millecamps, Stéphanie;
Urushitani, Makoto;
Lin, Li;
Dion, Patrick;
Zhu, Qinzhang;
Drapeau, Pierre;
Julien, Jean-Pierre;
Rouleau, Guy A.

Publication type:

Article

Pooled analysis of genetic variation at chromosome 8q24 and colorectal neoplasia risk.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2665, doi. 10.1093/hmg/ddn166

By:

Berndt, Sonja I.;
Potter, John D.;
Hazra, Aditi;
Yeager, Meredith;
Thomas, Gilles;
Makar, Karen W.;
Welch, Robert;
Cross, Amanda J.;
Huang, Wen-Yi;
Schoen, Robert E.;
Giovannucci, Edward;
Chan, Andrew T.;
Chanock, Stephen J.;
Peters, Ulrike;
Hunter, David J.;
Hayes, Richard B.

Publication type:

Article

Variation in crossover interference levels on individual chromosomes from human males.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2583, doi. 10.1093/hmg/ddn158

By:

Lian, Jie;
Yin, Yimeng;
Oliver-Bonet, Maria;
Liehr, Thomas;
Ko, Evelyn;
Turek, Paul;
Sun, Fei;
Martin, Renée H.

Publication type:

Article

Rhesus monkeys and humans share common susceptibility genes for age-related macular disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2673, doi. 10.1093/hmg/ddn167

By:

Francis, Peter J.;
Appukuttan, Binoy;
Simmons, Emily;
Landauer, Noelle;
Stoddard, Jonathan;
Hamon, Sara;
Ott, Jurg;
Ferguson, Betsy;
Klein, Michael;
Stout, J. Timothy;
Neuringer, Martha

Publication type:

Article

Multistep, sequential control of the trafficking and function of the multiple sulfatase deficiency gene product, SUMF1 by PDI, ERGIC-53 and ERp44.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2610, doi. 10.1093/hmg/ddn161

By:

Fraldi, Alessandro;
Zito, Ester;
Annunziata, Fabio;
Lombardi, Alessia;
Cozzolino, Marianna;
Monti, Maria;
Spampanato, Carmine;
Ballabio, Andrea;
Pucci, Piero;
Sitia, Roberto;
Cosma, Maria Pia

Publication type:

Article

Dystonia-associated mutations cause premature degradation of torsinA protein and cell-type-specific mislocalization to the nuclear envelope.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2712, doi. 10.1093/hmg/ddn173

By:

Giles, Lisa M.;
Chen, Jue;
Li, Lian;
Chin, Lih-Shen

Publication type:

Article

Autophagic dysfunction in mucolipidosis type IV patients.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2723, doi. 10.1093/hmg/ddn174

By:

Vergarajauregui, Silvia;
Connelly, Patricia S.;
Daniels, Mathew P.;
Puertollano, Rosa

Publication type:

Article

Homozygous WNT10b mutation and complex inheritance in Split-Hand/Foot Malformation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2644, doi. 10.1093/hmg/ddn164

By:

Ugur, Sibel Aylin;
Tolun, Aslihan

Publication type:

Article

Sex differences in a transgenic rat model of Huntington's disease: decreased 17β-estradiol levels correlate with reduced numbers of DARPP32+ neurons in males.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2595, doi. 10.1093/hmg/ddn159

By:

Bode, Felix J.;
Stephan, Michael;
Suhling, Hendrik;
Pabst, Reinhard;
Straub, Rainer H.;
Raber, Kerstin A.;
Bonin, Michael;
Nguyen, Huu Phuc;
Riess, Olaf;
Bauer, Andreas;
Sjoberg, Charlotte;
Petersén, Åsa;
von Hörsten, Stephan

Publication type:

Article

HMSN/ACC truncation mutations disrupt brain-type creatine kinase-dependant activation of K+/Cl− co-transporter 3.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2703, doi. 10.1093/hmg/ddn172

By:

Salin-Cantegrel, Adèle;
Shekarabi, Masoud;
Holbert, Sébastien;
Dion, Patrick;
Rochefort, Daniel;
Laganière, Janet;
Dacal, Sandra;
Hince, Pascale;
Karemera, Liliane;
Gaspar, Claudia;
Lapointe, Jean-Yves;
Rouleau, Guy A.

Publication type:

Article

Regulation of DNA methylation activity through Dnmt3L promoter methylation by Dnmt3 enzymes in embryonic development.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2654, doi. 10.1093/hmg/ddn165

By:

Hu, Ye-Guang;
Hirasawa, Ryutaro;
Hu, Jia-Lei;
Hata, Kenichiro;
Li, Chun-Liang;
Jin, Ying;
Chen, Taiping;
Li, En;
Rigolet, Muriel;
Viegas-Péquignot, Evani;
Sasaki, Hiroyuki;
Xu, Guo-Liang

Publication type:

Article

Somatically acquired hypomethylation of IGF2 in breast and colorectal cancer.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2633, doi. 10.1093/hmg/ddn163

By:

Ito, Yoko;
Koessler, Thibaud;
Ibrahim, Ashraf E.K.;
Rai, Sushma;
Vowler, Sarah L.;
Abu-Amero, Sayeda;
Silva, Ana-Luisa;
Maia, Ana-Teresa;
Huddleston, Joanna E.;
Uribe-Lewis, Santiago;
Woodfine, Kathryn;
Jagodic, Maja;
Nativio, Raffaella;
Dunning, Alison;
Moore, Gudrun;
Klenova, Elena;
Bingham, Sheila;
Pharoah, Paul D.P.;
Brenton, James D.;
Beck, Stephan

Publication type:

Article

An african-specific functional polymorphism in KCNMB1 shows sex-specific association with asthma severity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2681, doi. 10.1093/hmg/ddn168

By:

Seibold, Max A.;
Wang, Bin;
Eng, Celeste;
Kumar, Gunjan;
Beckman, Kenneth B.;
Sen, Saunak;
Choudhry, Shweta;
Meade, Kelley;
Lenoir, Michael;
Watson, H. Geoffrey;
Thyne, Shannon;
Williams, L. Keoki;
Kumar, Rajesh;
Weiss, Kevin B.;
Grammer, Leslie C.;
Avila, Pedro C.;
Schleimer, Robert P.;
Burchard, Esteban González;
Brenner, Robert

Publication type:

Article

Accumulation of N-terminal mutant huntingtin in mouse and monkey models implicated as a pathogenic mechanism in Huntington's disease.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2738, doi. 10.1093/hmg/ddn175

By:

Wang, Chuan-En;
Tydlacka, Suzanne;
Orr, Adam L.;
Yang, Shang-Hsun;
Graham, Rona K.;
Hayden, Michael R.;
Li, Shihua;
Chan, Anthony W.S.;
Li, Xiao-Jiang

Publication type:

Article

RNAi-mediated knockdown of dystrophin expression in adult mice does not lead to overt muscular dystrophy pathology.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 17, p. 2622, doi. 10.1093/hmg/ddn162

By:

Ghahramani Seno, Mohammad M.;
Graham, Ian R.;
Athanasopoulos, Takis;
Trollet, Capucine;
Pohlschmidt, Marita;
Crompton, Mark R.;
Dickson, George

Publication type:

Article