Stem Cell Research, 2021 MYBPC3 is the most frequently affected gene in hypertrophic cardiomyopathy (HCM), which is an autosomal-dominant cardiac disease caused by mutations in sarcomeric proteins.
Nele Warnecke +15 more
doaj +1 more source
Allelic imbalance and haploinsufficiency in MYBPC3-linked hypertrophic cardiomyopathy [PDF]
Pflügers Archiv - European Journal of Physiology, 2018 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 ...
Amelia A, Glazier +2 more
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Characterization of heterozygous and homozygous mouse models with the most common hypertrophic cardiomyopathy mutation MYBPC3 c.2373InsG in the Netherlands [PDF]
, 2023 Hypertrophic cardiomyopathy (HCM) is frequently caused by mutations in the cardiac myosin binding protein-C (cMyBP-C) encoding gene MYBPC3. In the Netherlands, approximately 25% of patients carry the MYBPC3 c.2373InsG founder mutation.
Schuldt, Maike +12 more
core
Prevalence of cardiac myosin-binding protein C3 mutations in Maine Coon cats with hypertrophic cardiomyopathy [PDF]
Veterinary World, 2022 Background and Aim: Hypertrophic cardiomyopathy (HCM) is a common heart problem that affects many cats. Although cats with HCM are symptomatic, some die suddenly or develop congestive heart failure.
Pratch Sukumolanan, Soontaree Petchdee
doaj +1 more source
Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation [PDF]
, 2021 Purpose: Variants in MYBPC3 causing loss of function are the most common cause of hypertrophic cardiomyopathy (HCM). However, a substantial number of patients carry missense variants of uncertain significance (VUS) in MYBPC3.
Samuel G. Wittekind +70 more
core +2 more sources
MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India [PDF]
Canadian Journal of Cardiology, 2008 Hypertrophic cardiomyopathy (HCM) is a complex cardiac muscular disorder, inherited as an autosomal dominant disease with variable penetrance. Cardiac myosin-binding protein C (MyBPC) is the predominant myosin-binding protein isoform in the heart muscle. One hundred forty-seven mutations have been detected in MYBPC3, accounting for 15% of all HCM cases.
Reena R, Tanjore +4 more
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PLoS ONE, 2011 RationaleMutations in MYBPC3 encoding cardiac myosin binding protein C are common genetic cause of hereditary cardiac myopathies. An intronic 25-bp deletion in MYBPC3 at 3' region is associated with dilated (DCM) and hypertrophic (HCM) cardiomyopathies ...
Anshika Srivastava +6 more
doaj +1 more source
Is haploinsufficiency a sufficient mechanism for MYBPC3 truncating mutations?
Journal of General Physiology, 2023 Reduced expression of MYBPC3 causes early dysfunction in human cell culture models prior to reduced cMyBP-C levels.
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Cardiogenetics, 2021 Genetic variants in MYBPC3 are one of the most common causes of hypertrophic cardiomyopathy (HCM). While variants in MYBPC3 affecting canonical splice site dinucleotides are a well-characterised cause of HCM, only recently has work begun to investigate ...
Katherine A. Wood +6 more
doaj +1 more source
An interesting Mybpc3 heterozygous mutation associated with bicuspid aortic valve [PDF]
Translational Pediatrics, 2020 Bicuspid aortic valve (BAV) is a common congenital heart defect (0.5-2.0% in the adult), potentially an onset factor of aortic stenosis (AS). Increasing evidence demonstrates that genetic risk factors play a key role in the pathogenesis of BAV, but the genetic basis underlying this cardiac malformation remains poorly understood.Whole exome sequencing ...
Zhao, Xiaopei +8 more
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