Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis

Modeling SMAD2 Mutations in Induced Pluripotent Stem Cells Provides Insights Into Cardiovascular Disease Pathogenesis

Background SMAD2 is a coregulator that binds a variety of transcription factors in human development. Heterozygous SMAD2 loss‐of‐function and missense variants are identified in patients with congenital heart disease (CHD) or arterial aneurysms. Mechanisms that cause distinct cardiovascular phenotyp...

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Main Authors: Tarsha Ward, Sarah U. Morton, Gabriela Venturini, Warren Tai, Min Young Jang, Joshua Gorham, Dan Delaughter, Lauren K. Wasson, Zahra Khazal, Jason Homsy, Bruce D. Gelb, Wendy K. Chung, Benoit G. Bruneau, Martina Brueckner, Martin Tristani‐Firouzi, Steven R. DePalma, Christine Seidman, J. G. Seidman
Format: Article
Language:English
Published: Wiley 2025-03-01
Series:Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease
Subjects:
congenital heart disease
CRISPR/Cas9 gene editing
induced pluripotent stem cells
mechanisms of transcriptional regulation
SMAD2
Online Access:https://www.ahajournals.org/doi/10.1161/JAHA.124.036860
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https://www.ahajournals.org/doi/10.1161/JAHA.124.036860

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