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- W3088010440 abstract "Significance Hypertrophic cardiomyopathy (HCM) is a common genetic heart disease and a leading cause of sudden cardiac death in young adults. HCM has been linked to mutations in genes encoding sarcomeric proteins, but how different mutations can result in a similar clinical phenotype is unknown. Analysis of surgical heart tissue samples from HCM patients with severe outflow track obstruction using high-resolution mass spectrometry–based top-down proteomics revealed a common pattern of altered sarcomeric proteoforms across HCM tissues compared to non-failing donor heart tissues. Our data suggest that common pathways are associated with clinical phenotypes in patients diagnosed with obstructive HCM, opening the door for the development of interventions that target the HCM phenotype rather than the individual sarcomeric gene mutation." @default.
- W3088010440 created "2020-10-01" @default.
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- W3088010440 date "2020-09-23" @default.
- W3088010440 modified "2023-10-18" @default.
- W3088010440 title "Distinct hypertrophic cardiomyopathy genotypes result in convergent sarcomeric proteoform profiles revealed by top-down proteomics" @default.
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- W3088010440 doi "https://doi.org/10.1073/pnas.2006764117" @default.
- W3088010440 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7547245" @default.