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- W2769328184 abstract "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 manifestations, and characterized neural crest cells differentiated in vitro from these iPSCs (iPSC-NCCs). We found that expression of genes associated with cell migration was altered in CHARGE iPSC-NCCs compared to control iPSC-NCCs. Consistently, CHARGE iPSC-NCCs showed defective delamination, migration and motility in vitro, and their transplantation in ovo revealed overall defective migratory activity in the chick embryo. These results support the historical inference that CHARGE syndrome patients exhibit defects in neural crest migration, and provide the first successful application of patient-derived iPSCs in modeling craniofacial disorders." @default.
- W2769328184 created "2017-12-04" @default.
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- W2769328184 date "2017-11-28" @default.
- W2769328184 modified "2023-10-16" @default.
- W2769328184 title "CHARGE syndrome modeling using patient-iPSCs reveals defective migration of neural crest cells harboring CHD7 mutations" @default.
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- W2769328184 doi "https://doi.org/10.7554/elife.21114" @default.
- W2769328184 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/5705211" @default.
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