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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Autors principals: 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
Idioma:Inglês
Publicat: Elsevier 2008
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Article
Accés en línia: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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