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

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 patient...

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Udgivet i:Stem Cell Reports
Main Authors: 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.
Format: Artigo
Sprog:Inglês
Udgivet: Elsevier 2016
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Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5032183/
https://ncbi.nlm.nih.gov/pubmed/27569062
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.stemcr.2016.07.018
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