GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

GATA6 mutations in hiPSCs inform mechanisms for maldevelopment of the heart, pancreas, and diaphragm

Damaging GATA6 variants cause cardiac outflow tract defects, sometimes with pancreatic and diaphragmic malformations. To define molecular mechanisms for these diverse developmental defects, we studied transcriptional and epigenetic responses to GATA6 loss of function (LoF) and missense variants duri...

Full description

Bibliographic Details
Main Authors: Arun Sharma, Lauren K Wasson, Jon AL Willcox, Sarah U Morton, Joshua M Gorham, Daniel M DeLaughter, Meraj Neyazi, Manuel Schmid, Radhika Agarwal, Min Young Jang, Christopher N Toepfer, Tarsha Ward, Yuri Kim, Alexandre C Pereira, Steven R DePalma, Angela Tai, Seongwon Kim, David Conner, Daniel Bernstein, Bruce D Gelb, Wendy K Chung, Elizabeth Goldmuntz, George Porter, Martin Tristani-Firouzi, Deepak Srivastava, Jonathan G Seidman, Christine E Seidman, Pediatric Cardiac Genomics Consortium
Format: Article
Language:English
Published: eLife Sciences Publications Ltd 2020-10-01
Series:eLife
Subjects:
stem cells
iPSC
gene mutation
CRISPR
heart
development
Online Access:https://elifesciences.org/articles/53278

Internet

https://elifesciences.org/articles/53278

Similar Items