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Ci Koehring

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Open access Jul 2026

A highly penetrant LMNA R541C variant associated with dilated cardiomyopathy leads to dysregulation in metabolism and proliferation pathways in stem cell-derived cardiomyocytes

These results implicate perturbed gene expression and pathways that may contribute to the severe phenotypes in LMNA-R541C and suggest several drug classes including multiple cardiac glycosides as potential targeted therapeutic candidates to be explored.

Thomas E. Keller, Ci Koehring, Brett W. Higgins et al. · 0 citations

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