Works matching IS 09646906 AND DT 2008 AND VI 17 AND IP 9

Results: 14

Effect of spastic paraplegia mutations in KIF5A kinesin on transport activity.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1245, doi. 10.1093/hmg/ddn014

By:

Ebbing, Bettina;
Mann, Klaudiusz;
Starosta, Agata;
Jaud, Johann;
Schöls, Ludger;
Schüle, Rebecca;
Woehlke, Günther

Publication type:

Article

Gene–environment interaction in progression of AMD: the CFH gene, smoking and exposure to chronic infection.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1299, doi. 10.1093/hmg/ddn018

By:

Baird, Paul N.;
Robman, Luba D.;
Richardson, Andrea J.;
Dimitrov, Peter N.;
Tikellis, Gabriella;
McCarty, Catherine A.;
Guymer, Robyn H.

Publication type:

Article

Mannosidase I inhibition rescues the human α-sarcoglycan R77C recurrent mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1214, doi. 10.1093/hmg/ddn029

By:

Bartoli, Marc;
Gicquel, Evelyne;
Barrault, Laetitia;
Soheili, Tayebeh;
Malissen, Marie;
Malissen, Bernard;
Vincent-Lacaze, Nathalie;
Perez, Norma;
Udd, Bjarne;
Danos, Olivier;
Richard, Isabelle

Publication type:

Article

Targeted mRNA degradation by complex-mediated delivery of antisense RNAs to intracellular human mitochondria.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1292, doi. 10.1093/hmg/ddn017

By:

Mukherjee, Saikat;
Mahata, Bidesh;
Mahato, Biraj;
Adhya, Samit

Publication type:

Article

Association of NTRK3 and its interaction with NGF suggest an altered cross-regulation of the neurotrophin signaling pathway in eating disorders.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1234, doi. 10.1093/hmg/ddn013

By:

Mercader, Josep Maria;
Saus, Ester;
Agüera, Zaida;
Bayés, Mònica;
Boni, Claudette;
Carreras, Anna;
Cellini, Elena;
de Cid, Rafael;
Dierssen, Mara;
Escaramís, Geòrgia;
Fernández-Aranda, Fernando;
Forcano, Laura;
Gallego, Xavier;
González, Juan Ramón;
Gorwood, Philip;
Hebebrand, Johannes;
Hinney, Anke;
Nacmias, Benedetta;
Puig, Anna;
Ribasés, Marta

Publication type:

Article

Dnmt1 deficiency promotes CAG repeat expansion in the mouse germline.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1306, doi. 10.1093/hmg/ddn019

By:

Dion, Vincent;
Lin, Yunfu;
Hubert, Leroy;
Waterland, Robert A.;
Wilson, John H.

Publication type:

Article

A common SNP of MCPH1 is associated with cranial volume variation in Chinese population.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1329, doi. 10.1093/hmg/ddn021

By:

Wang, Jin-kai;
Li, Yi;
Su, Bing

Publication type:

Article

Comprehensive genetic analysis of the platelet activating factor acetylhydrolase (PLA2G7) gene and cardiovascular disease in case–control and family datasets.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1318, doi. 10.1093/hmg/ddn020

By:

Sutton, Beth S.;
Crosslin, David R.;
Shah, Svati H.;
Nelson, Sarah C.;
Bassil, Anthony;
Hale, A. Brent;
Haynes, Carol;
Goldschmidt-Clermont, Pascal J.;
Vance, Jeffery M.;
Seo, David;
Kraus, William E.;
Gregory, Simon G.;
Hauser, Elizabeth R.

Publication type:

Article

Allelic imbalance in BRCA1 and BRCA2 gene expression is associated with an increased breast cancer risk.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1336, doi. 10.1093/hmg/ddn022

By:

Chen, Xiaowei;
Weaver, JoEllen;
Bove, Betsy A.;
Vanderveer, Lisa A.;
Weil, Susan C.;
Miron, Alexander;
Daly, Mary B.;
Godwin, Andrew K.

Publication type:

Article

A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1201, doi. 10.1093/hmg/ddn009

By:

Kobuke, Kazuhiro;
Piccolo, Federica;
Garringer, Keith W.;
Moore, Steven A.;
Sweezer, Eileen;
Yang, Baoli;
Campbell, Kevin P.

Publication type:

Article

Brachydactyly type A2 associated with a defect in proGDF5 processing.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1222, doi. 10.1093/hmg/ddn012

By:

Plöger, Frank;
Seemann, Petra;
Schmidt-von Kegler, Mareen;
Lehmann, Katarina;
Seidel, Jörg;
Kjaer, Klaus W.;
Pohl, Jens;
Mundlos, Stefan

Publication type:

Article

Activation of β-catenin signaling by Rspo1 controls differentiation of the mammalian ovary.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1264, doi. 10.1093/hmg/ddn016

By:

Chassot, Anne-Amandine;
Ranc, Fariba;
Gregoire, Elodie P.;
Roepers-Gajadien, Hermien L.;
Taketo, Makoto M.;
Camerino, Giovanna;
de Rooij, Dirk G.;
Schedl, Andreas;
Chaboissier, Marie-Christine

Publication type:

Article

Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1253, doi. 10.1093/hmg/ddn015

By:

Choesmel, Valérie;
Fribourg, Sébastien;
Aguissa-Touré, Almass-Houd;
Pinaud, Noël;
Legrand, Pierre;
Gazda, Hanna T.;
Gleizes, Pierre-Emmanuel

Publication type:

Article

R-spondin1 plays an essential role in ovarian development through positively regulating Wnt-4 signaling.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 9, p. 1278, doi. 10.1093/hmg/ddn036

By:

Tomizuka, Kazuma;
Horikoshi, Kaori;
Kitada, Rina;
Sugawara, Yuriko;
Iba, Yumi;
Kojima, Ayako;
Yoshitome, Akiko;
Yamawaki, Kengo;
Amagai, Mikiko;
Inoue, Ayano;
Oshima, Takeshi;
Kakitani, Makoto

Publication type:

Article