Article
Correction of Hirschsprung-Associated Mutations in Human Induced Pluripotent Stem Cells Via Clustered Regularly Interspaced Short Palindromic Repeats/Cas9, Restores Neural Crest Cell Function.
Gastroenterology - 1 Jul 2017
Lai Frank Pui-Ling, Lau Sin-Ting, Wong John Kwong-Leong, Gui Hongsheng, Wang Reeson Xu, Zhou Tingwen, Lai Wing Hon, Tse Hung-Fat, Tam Paul Kwong-Hang, Garcia-Barcelo Maria-Mercedes, Ngan Elly Sau-Wai
Abstract excerpt
BACKGROUND & AIMS: Hirschsprung disease is caused by failure of enteric neural crest cells (ENCCs) to fully colonize the bowel, leading to bowel obstruction and megacolon. Heterozygous mutations in the coding region of the RET gene cause a severe form of Hirschsprung disease (total colonic aganglionosis). However, 80% of HSCR patients have short-segment Hirschsprung disease (S-HSCR), which has not been associated...
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