Results 161 to 170 of about 7,387 (194)
ZeCardioAI: combining zebrafish, AI, and xAI for an in-depth cardiac phenotyping platform. [PDF]
Brief BioinformArqué F +8 more
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Case Report: Genomic and clinical insights into MYBPC3-related hypertrophic cardiomyopathy in Ecuadorian patients: implications for sudden cardiac death risk. [PDF]
Front Cardiovasc MedPaz-Cruz E +9 more
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An Update on MYBPC3 Gene Mutation in Hypertrophic Cardiomyopathy
International Journal of Molecular Sciences, 2023 Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically inherited cardiomyopathy that follows an autosomal dominant inheritance pattern. The majority of HCM cases can be attributed to mutation of the MYBPC3 gene, which encodes cMyBP-C, a ...
Cristian Stătescu +2 more
exaly +4 more sources
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Targeting the Population for Gene Therapy With MYBPC3
Journal of Molecular and Cellular Cardiology, 2021Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited myocardial disease characterized by unexplained left ventricular hypertrophy, diastolic dysfunction and myocardial disarray. Clinical heterogeneity is wide, ranging from asymptomatic individuals to heart failure, arrhythmias and sudden death.
Lucie Carrier
exaly +3 more sources
Novel pathogenic variant of MYBPC3 responsible for hypertrophic cardiomyopathy
Cardiology in the Young, 2021AbstractObjectives:This study aims to investigate the pathogenic gene variant in a family with hypertrophic cardiomyopathy by using whole-exome sequencing and to explore the relationship between the gene variant and clinical phenotype.Methods:Peripheral blood was collected from a family with hypertrophic cardiomyopathy, and deoxyribonucleic acid was ...
Xiaofei Yang +4 more
openaire +2 more sources
Revista Española de Cardiología (English Edition), 2017
Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c ...
Saura, Daniel +11 more
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Mutations in MYBPC3 are the cause of hypertrophic cardiomyopathy (HCM). Although most lead to a truncating protein, the severity of the phenotype differs. We describe the clinical phenotype of a novel MYBPC3 mutation, p.Pro108Alafs*9, present in 13 families from southern Spain and compare it with the most prevalent MYBPC3 mutation in this region (c ...
Saura, Daniel +11 more
openaire +3 more sources
Revista Española de Cardiología, 2017
Resumen Introduccion y objetivos Las mutaciones en MYBPC3 son causa de miocardiopatia hipertrofica (MCH). A pesar de que la mayoria de ellas producen una proteina truncada, la gravedad del fenotipo es diversa. Se describe el fenotipo clinico de una nueva mutacion en MYBPC3 , p.Pro108Alafs*9, presente en 13 familias del sur de Espana, y se compara
María Sabater-Molina +11 more
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Resumen Introduccion y objetivos Las mutaciones en MYBPC3 son causa de miocardiopatia hipertrofica (MCH). A pesar de que la mayoria de ellas producen una proteina truncada, la gravedad del fenotipo es diversa. Se describe el fenotipo clinico de una nueva mutacion en MYBPC3 , p.Pro108Alafs*9, presente en 13 familias del sur de Espana, y se compara
María Sabater-Molina +11 more
openaire +1 more source
HYPERTROPHIC CARDIOMYOPATHY AND MYBPC3 VARIANT - A CLINICAL CASE
European Heart Journal SupplementsAbstract Introduction Hypertrophic cardiomyopathy is a primary pathology of the cardiac muscle. Sarcomeric forms of hypertrophic cardiomyopathy (HCM) often have autosomal dominant transmission. A pathogenetic or likely pathogenetic mutation affecting genes encoding sarcomeric proteins is present in 30-
M Bianco +5 more
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