Ontology highlight
ABSTRACT:
SUBMITTER: Canzonetta C
PROVIDER: S-EPMC2556438 | biostudies-literature | 2008 Sep
REPOSITORIES: biostudies-literature
Canzonetta Claudia C Mulligan Claire C Deutsch Samuel S Ruf Sandra S O'Doherty Aideen A Lyle Robert R Borel Christelle C Lin-Marq Nathalie N Delom Frederic F Groet Jürgen J Schnappauf Felix F De Vita Serena S Averill Sharon S Priestley John V JV Martin Joanne E JE Shipley Janet J Denyer Gareth G Epstein Charles J CJ Fillat Cristina C Estivill Xavier X Tybulewicz Victor L J VL Fisher Elizabeth M C EM Antonarakis Stylianos E SE Nizetic Dean D
American journal of human genetics 20080904 3
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 expression of Nrsf/Rest (a key regulator of pluripotency and neuronal differentiation) is an alteration that persists in trisomy 21 from undifferentiated embryonic stem (ES) cells to adult brain and is rep ...[more]