Phenotypic Variability in iPSC-Induced Cardiomyocytes and Cardiac Fibroblasts Carrying Diverse LMNA Mutations

J Yang, MA Argenziano, M Burgos Angulo… - Frontiers in …, 2021 - frontiersin.org
Mutations in the LMNA gene (encoding lamin A/C) are a significant cause of familial
arrhythmogenic cardiomyopathy. Although the penetrance is high, there is considerable …

The LMNA p. R541C mutation causes dilated cardiomyopathy in human and mice

L Yang, J Sun, Z Chen, L Liu, Y Sun, J Lin, X Hu… - International Journal of …, 2022 - Elsevier
Dilated cardiomyopathy (DCM) is a major cause of heart failure. LMNA variants contribute to
6–10% DCM cases, but the underlying mechanisms remain incompletely understood. Here …

Neural and Cardiac Mechanisms in Friedreich's Ataxia with Patient-Derived iPSCs

MB Angulo - 2022 - search.proquest.com
Friedreich's ataxia (FA) is an autosomal recessive disease caused, in most cases, by a GAA
trinucleotide repeat expansion in the first intron of the frataxin (FXN) gene, which results in …

Neural and Cardiac Mechanisms in Friedreich's Ataxia with Patient-derived iPSCs

M Burgos Angulo - digitalcommons.usf.edu
Friedreich's ataxia (FA) is an autosomal recessive disease caused, in most cases, by a GAA
trinucleotide repeat expansion in the first intron of the frataxin (FXN) gene, which results in …