7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages View Full Text


Ontology type: schema:ScholarlyArticle     


Article Info

DATE

2014-12-15

AUTHORS

Antonio 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

ABSTRACT

Giuseppe 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... »

PAGES

132-141

References to SciGraph publications

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  • Journal

    TITLE

    Nature Genetics

    ISSUE

    2

    VOLUME

    47

    Identifiers

    URI

    http://scigraph.springernature.com/pub.10.1038/ng.3169

    DOI

    http://dx.doi.org/10.1038/ng.3169

    DIMENSIONS

    https://app.dimensions.ai/details/publication/pub.1013944922

    PUBMED

    https://www.ncbi.nlm.nih.gov/pubmed/25501393


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