Ontology type: schema:ScholarlyArticle
2014-12-15
AUTHORSAntonio Adamo, Sina Atashpaz, Pierre-Luc Germain, Matteo Zanella, Giuseppe D'Agostino, Veronica Albertin, Josh Chenoweth, Lucia Micale, Carmela Fusco, Christian Unger, Bartolomeo Augello, Orazio Palumbo, Brad Hamilton, Massimo Carella, Emilio Donti, Giancarlo Pruneri, Angelo Selicorni, Elisa Biamino, Paolo Prontera, Ronald McKay, Giuseppe Merla, Giuseppe Testa
ABSTRACTGiuseppe Testa and colleagues report the generation and transcriptional characterization of patient-derived induced pluripotent stem cells (iPSCs) with copy number variants at 7q11.23, which cause syndromes including neurocognitive phenotypes. They find that the dosage of the transcription factor gene GTF2I accounts for 10–20% of the transcriptional dysregulation observed in these cells. More... »
PAGES132-141
http://scigraph.springernature.com/pub.10.1038/ng.3169
DOIhttp://dx.doi.org/10.1038/ng.3169
DIMENSIONShttps://app.dimensions.ai/details/publication/pub.1013944922
PUBMEDhttps://www.ncbi.nlm.nih.gov/pubmed/25501393
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25 BLANK NODES