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Article

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes.

Stem cell reports - 13 Sept 2016

Josowitz Rebecca, Mulero-Navarro Sonia, Rodriguez Nelson A, Falce Christine, Cohen Ninette, Ullian Erik M, Weiss Lauren A, Rauen Katherine A, Sobie Eric A, Gelb Bruce D

Abstract excerpt

Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS), whereby 40% of patients develop hypertrophic cardiomyopathy (HCM). As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent stem cell (hiPSC) model for CFCS from three pati...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 27569062
DOI: 10.1016/j.stemcr.2016.07.018
PMCID: PMC5032183

Genes

BRAF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Prepared record publication-27569062-2026-09-05.1. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 5 Sept 2026.

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