Article
CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations.
eLife - 28 Nov 2017
Okuno Hironobu, Renault Mihara Francois, Ohta Shigeki, Fukuda Kimiko, Kurosawa Kenji, Akamatsu Wado, Sanosaka Tsukasa, Kohyama Jun, Hayashi Kanehiro, Nakajima Kazunori, Takahashi Takao, Wysocka Joanna, Kosaki Kenjiro, Okano Hideyuki
Abstract excerpt
CHARGE syndrome is caused by heterozygous mutations in the chromatin remodeler, CHD7, and is characterized by a set of malformations that, on clinical grounds, were historically postulated to arise from defects in neural crest formation during embryogenesis. To better delineate neural crest defects in CHARGE syndrome, we generated induced pluripotent stem cells (iPSCs) from two patients with typical syndrome...
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