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Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.
Oliva-Sandoval MJ, Ruiz-Espejo F, Monserrat L, Hermida-Prieto M, Sabater M, García-Molina E, Ortiz M, Rodríguez-García MI, Núñez L, Gimeno JR, Castro-Beiras A, Valdés M. Oliva-Sandoval MJ, et al. Heart. 2010 Dec;96(24):1980-4. doi: 10.1136/hrt.2010.200402. Heart. 2010. PMID: 21088121
BACKGROUND: Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy (HCM). However, only a few studies have analysed genotype-phenotype correlations in small series of patients. The present study …
BACKGROUND: Mutations in the cardiac myosin-binding protein C (MYBPC3) gene are frequently found as a cause of hypertrophic cardiomyopathy ( …
Isogenic Pairs of hiPSC-CMs with Hypertrophic Cardiomyopathy/LVNC-Associated ACTC1 E99K Mutation Unveil Differential Functional Deficits.
Smith JGW, Owen T, Bhagwan JR, Mosqueira D, Scott E, Mannhardt I, Patel A, Barriales-Villa R, Monserrat L, Hansen A, Eschenhagen T, Harding SE, Marston S, Denning C. Smith JGW, et al. Stem Cell Reports. 2018 Nov 13;11(5):1226-1243. doi: 10.1016/j.stemcr.2018.10.006. Epub 2018 Nov 1. Stem Cell Reports. 2018. PMID: 30392975 Free PMC article.
Unexpectedly, pathological phenotypes were less evident in E99K-expressing hiPSC-CMs from the two sons. Mechanistic insight from Ca(2+) handling expression studies prompted pharmacological rescue experiments, wherein dual dantroline/ranolazine treatment was most effective. …
Unexpectedly, pathological phenotypes were less evident in E99K-expressing hiPSC-CMs from the two sons. Mechanistic insight from Ca(2 …