DYRK1A-Dosage Imbalance Perturbs NRSF/REST Levels, Deregulating Pluripotency and Embryonic Stem Cell Fate in Down Syndrome

Down syndrome (DS) is the most common cause of mental retardation. Many neural phenotypes are shared between DS individuals and DS mouse models; however, the common underlying molecular pathogenetic mechanisms remain unclear. Using a transchromosomic model of DS, we show that a 30%–60% reduced expre...

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Main Authors: Canzonetta, Claudia, Mulligan, Claire, Deutsch, Samuel, Ruf, Sandra, O'Doherty, Aideen, Lyle, Robert, Borel, Christelle, Lin-Marq, Nathalie, Delom, Frederic, Groet, Jürgen, Schnappauf, Felix, De Vita, Serena, Averill, Sharon, Priestley, John V., Martin, Joanne E., Shipley, Janet, Denyer, Gareth, Epstein, Charles J., Fillat, Cristina, Estivill, Xavier, Tybulewicz, Victor L.J., Fisher, Elizabeth M.C., Antonarakis, Stylianos E., Nizetic, Dean
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2008
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2556438/
https://ncbi.nlm.nih.gov/pubmed/18771760
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2008.08.012
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