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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Auteurs principaux: 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
Format: Artigo
Langue:Inglês
Publié: Elsevier 2008
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Article
Accès en ligne: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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