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• W2900980188 endingPage "793" @default.
• W2900980188 startingPage "781" @default.
• W2900980188 abstract "Mutations in cardiac myosin binding protein C (MYBPC3) represent the most frequent cause of familial hypertrophic cardiomyopathy (HCM), making up approximately 50% of identified HCM mutations. MYBPC3 is distinct among other sarcomere genes associated with HCM in that truncating mutations make up the vast majority, whereas nontruncating mutations predominant in other sarcomere genes. Several studies using myocardial tissue from HCM patients have found reduced abundance of wild-type MYBPC3 compared to control hearts, suggesting haploinsufficiency of full-length MYBPC3. Further, decreased mutant versus wild-type mRNA and lack of truncated mutant MYBPC3 protein has been demonstrated, highlighting the presence of allelic imbalance. In this review, we will begin by introducing allelic imbalance and haploinsufficiency, highlighting the broad role each plays within the spectrum of human disease. We will subsequently focus on the roles allelic imbalance and haploinsufficiency play within MYBPC3-linked HCM. Finally, we will explore the implications of these findings on future directions of HCM research. An improved understanding of allelic imbalance and haploinsufficiency may help us better understand genotype-phenotype relationships in HCM and develop novel targeted therapies, providing exciting future research opportunities." @default.
• W2900980188 created "2018-11-29" @default.
• W2900980188 creator A5014350987 @default.
• W2900980188 creator A5015453401 @default.
• W2900980188 creator A5083767342 @default.
• W2900980188 date "2018-11-20" @default.
• W2900980188 modified "2023-10-01" @default.
• W2900980188 title "Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy" @default.
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• W2900980188 doi "https://doi.org/10.1007/s00424-018-2226-9" @default.
• W2900980188 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/6476680" @default.
• W2900980188 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30456444" @default.

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