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Article

Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.

Scientific reports - 7 Oct 2020

Aalders Jeffrey, Léger Laurens, Van der Meeren Louis, Van den Vreken Natasja, Skirtach Andre G, Sinha Sanjay, De Backer Julie, van Hengel Jolanda

Abstract excerpt

Marfan syndrome (MFS) is a systemic disorder of connective tissue caused by pathogenic variants in the fibrillin-1 (FBN1) gene. Myocardial dysfunction has been demonstrated in MFS patients and mouse models, but little is known about the intrinsic effect on the cardiomyocytes (CMs). In this study, both induced pluripotent stem cells derived from a MFS-patient and the line with the corrected FBN1 mutation were...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 33028885
DOI: 10.1038/s41598-020-73802-w
PMCID: PMC7542175

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