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Article

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

Journal of the American Heart Association - 4 Mar 2025

Ward Tarsha, Morton Sarah U, Venturini Gabriela, Tai Warren, Jang Min Young, Gorham Joshua, Delaughter Dan, Wasson Lauren K, Khazal Zahra, Homsy Jason, Gelb Bruce D, Chung Wendy K, Bruneau Benoit G, Brueckner Martina, Tristani-Firouzi Martin, DePalma Steven R, Seidman Christine, Seidman J G

Abstract excerpt

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 phenotypes remain unknown. We aimed to define transcriptional and epigenetic effects of SMAD2 variants and their role in...

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Topics

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Share to Epigenesis, Genetic
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Haploinsufficiency

Share to Heart Defects, Congenital

Share to Induced Pluripotent Stem Cells

Share to Loss of Function Mutation

Share to Myocytes, Cardiac

Share to Smad2 Protein

Source

Open in PubMed Open full text

Identifiers

PMID: 40028843
DOI: 10.1161/JAHA.124.036860
PMCID: PMC12184555

Genes

SMAD2
NANOG
TEAD3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

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