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...

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Podrobná bibliografie
Hlavní autoři: Sharma, A, Wasson, LK, Willcox, JAL, Morton, SU, Gorham, JM, DeLaughter, DM, Neyazi, M, Schmid, M, Agarwal, R, Jang, MY, Toepfer, CN, Ward, T, Kim, Y, Pereira, AC, DePalma, SR, Tai, A, Kim, S, Conner, D, Bernstein, D, Gelb, BD, Chung, WK, Goldmuntz, E, Porter, G, Tristani-Firouzi, M, Srivastava, D, Seidman, JG, Seidman, CE
Médium: Journal article
Jazyk:English
Vydáno: eLife Sciences Publications 2020