Generation of bi-allelic MYBPC3 truncating mutant and isogenic control from an iPSC line of a patient with hypertrophic cardiomyopathy.
Sign Up to like & getrecommendations! Published in 2021 at "Stem cell research"
DOI: 10.1016/j.scr.2021.102489
Abstract: MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins. Bi-allelic truncating MYBPC3 mutations are associated with severe forms of neonatal cardiomyopathy.… read more here.
Keywords: allelic mybpc3; hypertrophic cardiomyopathy; mybpc3; isogenic control ... See more keywords
Translational investigation of electrophysiology in hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Molecular and Cellular Cardiology"
DOI: 10.1016/j.yjmcc.2021.04.009
Abstract: Hypertrophic cardiomyopathy (HCM) patients are at increased risk of ventricular arrhythmias and sudden cardiac death, which can occur even in the absence of structural changes of the heart. HCM mouse models suggest mutations in myofilament… read more here.
Keywords: hypertrophic cardiomyopathy; mybpc3; action potentials; mice ... See more keywords
P1243Comparison of long-term clinical course and outcome of MYBPC3 - versus MYH7 - related hypertrophic cardiomyopathy
Sign Up to like & getrecommendations! Published in 2019 at "European Heart Journal"
DOI: 10.1093/eurheartj/ehz748.0201
Abstract: The presence of sarcomere mutations is a powerful predictor of heart failure-related outcomes in Hypertrophic Cardiomyopathy (HCM). However, whether the prevalence of left ventricular (LV) dysfunction differs in patients with mutations in the two most… read more here.
Keywords: myh7; dysfunction; hypertrophic cardiomyopathy; prevalence ... See more keywords
Slower Calcium Handling Balances Faster Cross-Bridge Cycling in Human MYBPC3 HCM
Sign Up to like & getrecommendations! Published in 2023 at "Circulation Research"
DOI: 10.1161/circresaha.122.321956
Abstract: Background: The pathogenesis of MYBPC3-associated hypertrophic cardiomyopathy (HCM) is still unresolved. In our HCM patient cohort, a large and well-characterized population carrying the MYBPC3:c772G>A variant (p.Glu258Lys, E258K) provides the unique opportunity to study the basic… read more here.
Keywords: hcm; mybpc3; cross bridge; bridge cycling ... See more keywords
Abstract 772: The Highly Prevalent 25bp Intronic Deletion in MYBPC3 is Benign Under Baseline Conditions
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DOI: 10.1161/res.125.suppl_1.772
Abstract: Background: Hypertrophic cardiomyopathy (HCM) affects at least 1 in 500 people worldwide, and results in the thickening of the ventricular walls and reduced cardiac function. Mutations in MYBPC3 , encoding cardiac myosin binding protein-C, are… read more here.
Keywords: prevalent 25bp; highly prevalent; mybpc3; deletion ... See more keywords
Description of a Cohort with a New Truncating MYBPC3 Variant for Hypertrophic Cardiomyopathy in Northern Spain
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040840
Abstract: Background: The pathogenicity of the different genetic variants causing hypertrophic cardiomyopathy (HCM) and the genotype/phenotype correlations are difficult to assess in clinical practice, as most mutations are unique or identified in non-informative families. Pathogenic variants… read more here.
Keywords: hypertrophic cardiomyopathy; mybpc3 variant; truncating mybpc3; age ... See more keywords
Homozygous Pro1066Arg MYBPC3 Pathogenic Variant in a 26Mb Region of Homozygosity Associated with Severe Hypertrophic Cardiomyopathy in a Patient of an Apparent Non-Consanguineous Family
Sign Up to like & getrecommendations! Published in 2022 at "Life"
DOI: 10.3390/life12071035
Abstract: MYPBC3 and MYH7 are the most frequently mutated genes in patients with hereditary HCM. Homozygous and compound heterozygous genotypes generate the most severe phenotypes. A 35-year-old woman who was a homozygous carrier of the p.(Pro1066Arg)… read more here.
Keywords: homozygous pro1066arg; region; variant; variant mybpc3 ... See more keywords