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Pathogenic variants damage cell composition and single cell transcription in cardiomyopathies

4 Aug 2022

Abstract excerpt

Pathogenic variants in genes that cause dilated cardiomyopathy (DCM) and arrhythmogenic cardiomyopathy (ACM) convey high risks for the development of heart failure through unknown mechanisms. Using single-nucleus RNA sequencing, we characterized the transcriptome of 880,000 nuclei from 18 control and 61 failing, nonischemic human hearts with pathogenic variants in DCM and ACM genes or idiopathic disease. We...

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PMID: 35926050
DOI: 10.1126/science.abo1984

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