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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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Detalles Bibliográficos
Autores principales: Sharma, Arun, Wasson, Lauren K, Willcox, Jon AL, Morton, Sarah U, Gorham, Joshua M, DeLaughter, Daniel M, Neyazi, Meraj, Schmid, Manuel, Agarwal, Radhika, Jang, Min Young, Toepfer, Christopher N, Ward, Tarsha, Kim, Yuri, Pereira, Alexandre C, DePalma, Steven R, Tai, Angela, Kim, Seongwon, Conner, David, Bernstein, Daniel, Gelb, Bruce D, Chung, Wendy K, Goldmuntz, Elizabeth, Porter, George, Tristani-Firouzi, Martin, Srivastava, Deepak, Seidman, Jonathan G, Seidman, Christine E
Formato: Online Artículo Texto
Lenguaje:English
Publicado: eLife Sciences Publications, Ltd 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7593088/
https://www.ncbi.nlm.nih.gov/pubmed/33054971
http://dx.doi.org/10.7554/eLife.53278