Gene: MYBPC3

Alternate names for this Gene: CMD1MM|CMH4|FHC|LVNC10|MYBP-C|cMyBP-C

Gene Summary: MYBPC3 encodes the cardiac isoform of myosin-binding protein C. Myosin-binding protein C is a myosin-associated protein found in the cross-bridge-bearing zone (C region) of A bands in striated muscle. MYBPC3, the cardiac isoform, is expressed exclussively in heart muscle. Regulatory phosphorylation of the cardiac isoform in vivo by cAMP-dependent protein kinase (PKA) upon adrenergic stimulation may be linked to modulation of cardiac contraction. Mutations in MYBPC3 are one cause of familial hypertrophic cardiomyopathy.

Gene is located in Chromosome: 11

Location in Chromosome : 11p11.2

Description of this Gene: myosin binding protein C3

Type of Gene: protein-coding

rs10769254 in MYBPC3 gene and Alcohol consumption PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

rs397515947 in MYBPC3 gene and Cardiomyopathy, Dilated PMID 25351510 2015 Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

PMID 9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23549607 2013 T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 22122802 2011 Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 17081393 2006 [Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene].

PMID 20031602 2009 Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

rs121909374 in MYBPC3 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

PMID 20433692 2010 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

PMID 2073894 1990 Local mechanical oscillations of the cell surface within the range 0.2-30 Hz.

PMID 25740977 2015 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

PMID 21302287 2011 Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

PMID 22267749 2012 Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 25342278 2014 Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

PMID 9631872 1998 Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 10610770 1999 COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

PMID 12117842 2002 Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 25524337 2014 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

PMID 16831826 2006 Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 21239446 2011 Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

PMID 21839045 2012 Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

PMID 19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

PMID 22765922 2012 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

PMID 9048664 1997 Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

PMID 24704860 2014 Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

PMID 19574547 2009 Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

PMID 24810389 2014 Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy.

PMID 20818890 2010 Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.

PMID 23690394 2013 Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 18761664 2008 Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

PMID 22563033 2012 Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.

PMID 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

PMID 18809796 2008 Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 19659763 2009 A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

PMID 20019025 2010 The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 25058872 2014 Structural characterization of the C3 domain of cardiac myosin binding protein C and its hypertrophic cardiomyopathy-related R502W mutant.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 14563344 2003 The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

PMID 19273718 2009 Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.

PMID 25335496 2015 Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

PMID 10736283 2000 A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.

PMID 20505798 2010 Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.

PMID 19356534 2009 Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.

PMID 11499719 2001 Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

PMID 9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PMID 11499718 2001 Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

PMID 20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

PMID 9541104 1998 Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

rs1025692267 in MYBPC3 gene and Cardiomyopathy, Hypertrophic, Familial PMID 31730716 2019 Whole MYBPC3 NGS sequencing as a molecular strategy to improve the efficiency of molecular diagnosis of patients with hypertrophic cardiomyopathy.

PMID 19574547 2009 Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 24704860 2014 Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

PMID 27483260 2016 A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

PMID 21302287 2011 Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

PMID 27600940 2016 Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

PMID 25740977 2015 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 18957093 2008 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

PMID 9048664 1997 Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

PMID 21088121 2010 Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.

PMID 23690394 2013 Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

PMID 26914223 2016 Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 22057632 2012 How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

PMID 10610770 1999 COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

PMID 9631872 1998 Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 20433692 2010 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 19808356 2009 Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

PMID 21520333 2011 LOVD v.2.0: the next generation in gene variant databases.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 23074333 2012 Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

PMID 28408708 2017 Nonfamilial Hypertrophic Cardiomyopathy: Prevalence, Natural History, and Clinical Implications.

PMID 25262865 2014 A case of an infant with compound heterozygous mutations for hypertrophic cardiomyopathy producing a phenotype of left ventricular noncompaction.

PMID 20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.

PMID 23549607 2013 T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

PMID 12202917 2002 Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

PMID 16715312 2006 Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

PMID 20019025 2010 The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 23861362 2013 Interpreting secondary cardiac disease variants in an exome cohort.

PMID 22857948 2012 Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

PMID 9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PMID 19659763 2009 A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

PMID 11499718 2001 Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 23396983 2013 Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 22112859 2012 Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

PMID 18929575 2008 Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

PMID 18761664 2008 Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

PMID 20800588 2010 Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

PMID 20542340 2010 The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.

PMID 12628722 2003 A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

PMID 25281569 2014 Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.

PMID 18273486 2008 MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 22555271 2012 Pediatric cardiomyopathy: importance of genetic and metabolic evaluation.

PMID 20298698 2010 Malignant and benign mutations in familial cardiomyopathies: insights into mutations linked to complex cardiovascular phenotypes.

PMID 19151713 2009 A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.

PMID 24327208 2014 MYBPC3's alternate ending: consequences and therapeutic implications of a highly prevalent 25 bp deletion mutation.

PMID 12788380 2003 Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

PMID 21959974 2012 A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.

PMID 28356264 2017 Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

PMID 22386539 2012 [One patient, one mutation and two cardiomyopathies - hypertrophic cardiomyopathy and left ventricular noncompaction].

PMID 20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

PMID 22267749 2012 Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

PMID 23674513 2013 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

PMID 17937428 2007 Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

PMID 18467358 2008 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

PMID 21835286 2011 Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.

PMID 25335496 2015 Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

PMID 22574137 2012 Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers.

PMID 20505798 2010 Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.

PMID 23233322 2013 Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

PMID 15166115 2004 Cardiac myosin binding protein C: its role in physiology and disease.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 11499719 2001 Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

PMID 23782526 2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

PMID 12110947 2002 Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

PMID 28797094 2017 Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

PMID 22765922 2012 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

PMID 26671970 2015 Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection.

PMID 19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

PMID 21817903 2011 High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 23508784 2013 Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

PMID 27688314 2016 Genotype-Dependent and -Independent Calcium Signaling Dysregulation in Human Hypertrophic Cardiomyopathy.

PMID 28790153 2017 Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

PMID 23140321 2012 A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 7493026 1995 Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

PMID 20439259 2010 Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.

PMID 25228707 2014 Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy.

PMID 22569109 2012 The role of renin-angiotensin-aldosterone system polymorphisms in phenotypic expression of MYBPC3-related hypertrophic cardiomyopathy.

PMID 22115648 2011 Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.

PMID 10736283 2000 A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.

PMID 19273718 2009 Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.

PMID 16679492 2006 Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.

PMID 14563344 2003 The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

PMID 21415409 2011 In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

PMID 21839045 2012 Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

PMID 28450932 2017 Echocardiographic characterization of hypertrophic cardiomyopathy in Chinese patients with myosin-binding protein C3 mutations.

PMID 28193612 2017 Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 15114369 2004 Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

PMID 21551322 2011 Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

PMID 9241277 1997 Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

PMID 16335287 2005 Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?

PMID 26267065 2015 The Metabolome in Finnish Carriers of the MYBPC3-Q1061X Mutation for Hypertrophic Cardiomyopathy.

PMID 22462493 2013 Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.

PMID 20128375 2009 [Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients].

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 26090888 2015 Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

PMID 23711808 2013 Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.

PMID 20031602 2009 Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

PMID 25351510 2015 Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

PMID 21985754 2011 The Gln1233ter mutation of the myosin binding protein C gene: causative mutation or innocent polymorphism in patients with hypertrophic cardiomyopathy?

PMID 25524337 2014 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

PMID 19996403 2009 Use of genetics in the clinical evaluation of cardiomyopathy.

PMID 25078086 2014 Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

PMID 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

PMID 18926831 2008 Myosin binding protein C positioned to play a key role in regulation of muscle contraction: structure and interactions of domain C1.

PMID 28087566 2017 Application of Whole Exome Sequencing in the Clinical Diagnosis and Management of Inherited Cardiovascular Diseases in Adults.

PMID 19590044 2009 Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice.

PMID 9742053 1998 Familial hypertrophic cardiomyopathy: from mutations to functional defects.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 15769446 2005 Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.

PMID 23980194 2013 E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.

PMID 31333075 2019 RIKADA Study Reveals Risk Factors in Pediatric Primary Cardiomyopathy.

PMID 31568572 2019 Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3.

PMID 24810389 2014 Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy.

PMID 24113344 2014 Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

PMID 28971120 2017 Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

PMID 18337725 2008 Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

PMID 18258667 2008 Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

PMID 29121657 2017 Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

PMID 2732257 1989 Development of an osteogenic bone-marrow preparation.

PMID 25086479 2015 Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

PMID 25849606 2015 Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.

PMID 11815426 2002 Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PMID 20641121 2010 Long-term outcome of 4 Korean families with hypertrophic cardiomyopathy caused by 4 different mutations.

PMID 17521870 2007 A substitution mutation in the myosin binding protein C gene in ragdoll hypertrophic cardiomyopathy.

PMID 28771489 2017 Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

rs10769254 in MYBPC3 gene and Cardiovascular Diseases PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs387906397 in MYBPC3 gene and Dysmorphic features PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

rs1060501474 in MYBPC3 gene and Familial Hypertrophic Cardiomyopathy Type 4 PMID 9541115 1998 Identification of a new missense mutation in MyBP-C associated with hypertrophic cardiomyopathy.

PMID 28265379 2017 Familial hypertrophic cardiomyopathy associated with a new mutation in gene MYBPC3.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 9541104 1998 Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

PMID 9048664 1997 Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

PMID 15114369 2004 Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

PMID 9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PMID 18929575 2008 Ubiquitin-proteasome system impairment caused by a missense cardiac myosin-binding protein C mutation and associated with cardiac dysfunction in hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 18957093 2008 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

PMID 12628722 2003 A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

PMID 7744002 1995 Phosphorylation switches specific for the cardiac isoform of myosin binding protein-C: a modulator of cardiac contraction?

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 11499719 2001 Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 11499718 2001 Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

PMID 11815426 2002 Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PMID 27483260 2016 A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 25342278 2014 Mutation analysis of the main hypertrophic cardiomyopathy genes using multiplex amplification and semiconductor next-generation sequencing.

PMID 25740977 2015 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

PMID 25741868 2015 Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 25356965 2015 ACMG policy statement: updated recommendations regarding analysis and reporting of secondary findings in clinical genome-scale sequencing.

PMID 27854360 2017 Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 25524337 2014 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

PMID 24033266 2013 A systematic approach to assessing the clinical significance of genetic variants.

PMID 20433692 2010 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

PMID 9631872 1998 Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

PMID 21239446 2011 Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

PMID 22057632 2012 How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

PMID 22765922 2012 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 21302287 2011 Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

PMID 23788249 2013 ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.

PMID 21835320 2011 Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

PMID 22267749 2012 Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

PMID 20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

PMID 19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 2073894 1990 Local mechanical oscillations of the cell surface within the range 0.2-30 Hz.

PMID 21839045 2012 Double or compound sarcomere mutations in hypertrophic cardiomyopathy: a potential link to sudden death in the absence of conventional risk factors.

PMID 20738943 2010 Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy.

PMID 16831826 2006 Evidence for efficacy of the Italian national pre-participation screening programme for identification of hypertrophic cardiomyopathy in competitive athletes.

PMID 23054336 2013 Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 21267010 2011 Clinical utility gene card for: hypertrophic cardiomyopathy (type 1-14).

PMID 18414213 2008 ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.

PMID 10610770 1999 COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

PMID 12117842 2002 Relation between QT duration and maximal wall thickness in familial hypertrophic cardiomyopathy.

PMID 12601548 2003 Molecular genetics of familial hypertrophic cardiomyopathy (FHC).

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 21185001 2011 Clinical challenges of genotype positive (+)-phenotype negative (-) family members in hypertrophic cardiomyopathy.

PMID 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 25335496 2015 Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

PMID 19356534 2009 Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.

PMID 19858127 2010 Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

PMID 20505798 2010 Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.

PMID 16566405 2005 Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.

PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 7493026 1995 Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

PMID 19273718 2009 Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.

PMID 22115648 2011 Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.

PMID 16335287 2005 Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?

PMID 22907696 2012 A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

PMID 25210889 2014 Muscular dystrophy-associated SUN1 and SUN2 variants disrupt nuclear-cytoskeletal connections and myonuclear organization.

PMID 27650965 2016 Genetic investigation of 100 heart genes in sudden unexplained death victims in a forensic setting.

PMID 23861362 2013 Interpreting secondary cardiac disease variants in an exome cohort.

PMID 20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.

PMID 20530761 2010 The importance of genetic counseling, DNA diagnostics, and cardiologic family screening in left ventricular noncompaction cardiomyopathy.

PMID 19808356 2009 Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

PMID 20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

PMID 25971843 2015 An Investigation of the Molecular Mechanism of Double cMyBP-C Mutation in a Patient with End-Stage Hypertrophic Cardiomyopathy.

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 23980194 2013 E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.

PMID 20031602 2009 Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

PMID 20173211 2010 Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.

PMID 20159828 2010 Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.

PMID 15769446 2005 Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 17908752 2007 Contribution of inherited heart disease to sudden cardiac death in childhood.

PMID 19574547 2009 Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

PMID 23782526 2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 14563344 2003 The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

PMID 18374358 2008 Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.

PMID 14613868 2003 Biomolecular interactions between human recombinant beta-MyHC and cMyBP-Cs implicated in familial hypertrophic cardiomyopathy.

PMID 26090888 2015 Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

PMID 21511876 2011 Sarcomere protein gene mutations in patients with apical hypertrophic cardiomyopathy.

PMID 17560888 2007 Mutations in the genes for sarcomeric proteins in Japanese patients with onset sporadic hypertrophic cardiomyopathy after age 40 years.

PMID 20045868 2010 Myosin binding protein C1: a novel gene for autosomal dominant distal arthrogryposis type 1.

PMID 25856671 2015 Frequency and spectrum of actionable pathogenic secondary findings in 196 Korean exomes.

PMID 23711808 2013 Mutation spectrum in a large cohort of unrelated Chinese patients with hypertrophic cardiomyopathy.

PMID 23396983 2013 Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

PMID 8655135 1996 Malignant familial hypertrophic cardiomyopathy in a family with a 453Arg-->Cys mutation in the beta-myosin heavy chain gene: coexistence of sudden death and end-stage heart failure.

PMID 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

PMID 12881443 2003 Hypertrophic cardiomyopathy: low frequency of mutations in the beta-myosin heavy chain (MYH7) and cardiac troponin T (TNNT2) genes among Spanish patients.

PMID 15856146 2005 Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with hypertrophic cardiomyopathy.

PMID 18337725 2008 Micro-exons of the cardiac myosin binding protein C gene: flanking introns contain a disproportionately large number of hypertrophic cardiomyopathy mutations.

rs10769254 in MYBPC3 gene and High density lipoprotein measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs1060501474 in MYBPC3 gene and Hypertrophic Cardiomyopathy PMID 12787675 2003 Structure, stability and dynamics of the central domain of cardiac myosin binding protein C (MyBP-C): implications for multidomain assembly and causes for cardiomyopathy.

PMID 12386147 2002 Identification of novel interactions between domains of Myosin binding protein-C that are modulated by hypertrophic cardiomyopathy missense mutations.

PMID 9541100 1998 Counselling issues in familial hypertrophic cardiomyopathy.

PMID 18803133 2008 Selected mutations in the myosin binding protein C gene in the Polish population of patients with hypertrophic cardiomyopathy.

PMID 9541104 1998 Molecular pathology of familial hypertrophic cardiomyopathy caused by mutations in the cardiac myosin binding protein C gene.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

PMID 23674513 2013 Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy.

PMID 28790153 2017 Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

PMID 9562578 1998 Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 25611685 2015 Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.

PMID 28193612 2017 Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.

PMID 25132132 2014 Malignant effects of multiple rare variants in sarcomere genes on the prognosis of patients with hypertrophic cardiomyopathy.

PMID 20215591 2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

PMID 25525159 2015 RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

PMID 21302287 2011 Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy.

PMID 15519027 2004 Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy.

PMID 18957093 2008 Adverse events in families with hypertrophic or dilated cardiomyopathy and mutations in the MYBPC3 gene.

PMID 21088121 2010 Insights into genotype-phenotype correlation in hypertrophic cardiomyopathy. Findings from 18 Spanish families with a single mutation in MYBPC3.

PMID 9048664 1997 Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

PMID 23690394 2013 Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

PMID 26914223 2016 Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed Hypertrophic Cardiomyopathy.

PMID 29121657 2017 Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.

PMID 20433692 2010 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

PMID 19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

PMID 10610770 1999 COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 21239446 2011 Rapid detection of genetic variants in hypertrophic cardiomyopathy by custom DNA resequencing array in clinical practice.

PMID 22267749 2012 Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

PMID 20738943 2010 Severe cardiac conduction disturbances and pacemaker implantation in patients with hypertrophic cardiomyopathy.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 9631872 1998 Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene.

PMID 16199542 2005 Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling.

PMID 28679633 2017 Identification of pathogenic gene mutations in LMNA and MYBPC3 that alter RNA splicing.

PMID 28538763 2017 Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy.

PMID 12601548 2003 Molecular genetics of familial hypertrophic cardiomyopathy (FHC).

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 24093860 2013 Screening of MYH7, MYBPC3, and TNNT2 genes in Brazilian patients with hypertrophic cardiomyopathy.

PMID 27885498 2017 Prognostic predictive value of gene mutations in Japanese patients with hypertrophic cardiomyopathy.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 21310275 2011 Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.

PMID 23074333 2012 Cardiac structural and sarcomere genes associated with cardiomyopathy exhibit marked intolerance of genetic variation.

PMID 19808356 2009 Expression patterns of cardiac myofilament proteins: genomic and protein analysis of surgical myectomy tissue from patients with obstructive hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 25031304 2014 Sarcomere mutation-specific expression patterns in human hypertrophic cardiomyopathy.

PMID 20864638 2010 Evaluation of second-generation sequencing of 19 dilated cardiomyopathy genes for clinical applications.

PMID 12202917 2002 Functional and spectroscopic studies of a familial hypertrophic cardiomyopathy mutation in Motif X of cardiac myosin binding protein-C.

PMID 24510615 2014 Distinguishing hypertrophic cardiomyopathy-associated mutations from background genetic noise.

PMID 23549607 2013 T1 measurements identify extracellular volume expansion in hypertrophic cardiomyopathy sarcomere mutation carriers with and without left ventricular hypertrophy.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

PMID 11499718 2001 Development of left ventricular hypertrophy in adults in hypertrophic cardiomyopathy caused by cardiac myosin-binding protein C gene mutations.

PMID 22115648 2011 Mortality risk of untreated myosin-binding protein C-related hypertrophic cardiomyopathy: insight into the natural history.

PMID 18258667 2008 Array-based resequencing assay for mutations causing hypertrophic cardiomyopathy.

PMID 23861362 2013 Interpreting secondary cardiac disease variants in an exome cohort.

PMID 23396983 2013 Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

PMID 22857948 2012 Sarcomeric hypertrophic cardiomyopathy: genetic profile in a Portuguese population.

PMID 16715312 2006 Large-scale mutation screening in patients with dilated or hypertrophic cardiomyopathy: a pilot study using DGGE.

PMID 18403758 2008 Shared genetic causes of cardiac hypertrophy in children and adults.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in hypertrophic cardiomyopathy.

PMID 20019025 2010 The yield of risk stratification for sudden cardiac death in hypertrophic cardiomyopathy myosin-binding protein C gene mutation carriers: focus on predictive screening.

PMID 27737317 2016 Prevalence and Phenotypic Expression of Mutations in the MYH7, MYBPC3 and TNNT2 Genes in Families with Hypertrophic Cardiomyopathy in the South of Brazil: A Cross-Sectional Study.

PMID 28024942 2017 Uncomplicated Pregnancy in a Patient Treated With Alcohol Septal Ablation for Hypertrophic Obstructive Cardiomyopathy.

PMID 26671970 2015 Application of Genetic Testing in Hypertrophic Cardiomyopathy for Preclinical Disease Detection.

PMID 28615295 2017 Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy.

PMID 24704860 2014 Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression.

PMID 24113344 2014 Determining pathogenicity of genetic variants in hypertrophic cardiomyopathy: importance of periodic reassessment.

PMID 25281569 2014 Compound heterozygosity deteriorates phenotypes of hypertrophic cardiomyopathy with founder MYBPC3 mutation: evidence from patients and zebrafish models.

PMID 12628722 2003 A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients.

PMID 16181148 2006 A novel mutation in the cardiac myosin-binding protein C gene is responsible for hypertrophic cardiomyopathy with severe ventricular hypertrophy and sudden death.

PMID 14563344 2003 The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands.

PMID 26688216 2016 Clinically Linked Mutations in the Central Domains of Cardiac Myosin-Binding Protein C with Distinct Phenotypes Show Differential Structural Effects.

PMID 20542340 2010 The R820W mutation in the MYBPC3 gene, associated with hypertrophic cardiomyopathy in cats, causes hypertrophic cardiomyopathy and left ventricular non-compaction in humans.

PMID 15671604 2005 Gene mutations in adult Japanese patients with dilated cardiomyopathy.

PMID 12951062 2003 "Hypertrophic cardiomyopathy: two homozygous cases with ""typical"" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy."

PMID 28658286 2017 MYBPC3 mutations are associated with a reduced super-relaxed state in patients with hypertrophic cardiomyopathy.

PMID 18273486 2008 MYBPC3 gene variations in hypertrophic cardiomyopathy patients in India.

PMID 25335496 2015 Compound heterozygous or homozygous truncating MYBPC3 mutations cause lethal cardiomyopathy with features of noncompaction and septal defects.

PMID 19151713 2009 A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia.

PMID 21959974 2012 A low prevalence of MYH7/MYBPC3 mutations among familial hypertrophic cardiomyopathy patients in India.

PMID 25583989 2015 A hypertrophic cardiomyopathy-associated MYBPC3 mutation common in populations of South Asian descent causes contractile dysfunction.

PMID 21915287 2011 Association of 25 bp deletion in MYBPC3 gene with left ventricle dysfunction in coronary artery disease patients.

PMID 12788380 2003 Novel deletions in MYH7 and MYBPC3 identified in Indian families with familial hypertrophic cardiomyopathy.

PMID 20201939 2010 Limited distribution of a cardiomyopathy-associated variant in India.

PMID 23233322 2013 Early results of sarcomeric gene screening from the Egyptian National BA-HCM Program.

PMID 23782526 2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

PMID 23534983 2013 Symptomatic exercise-induced left ventricular outflow tract obstruction without left ventricular hypertrophy.

PMID 19574547 2009 Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency.

PMID 18809796 2008 Prevalence, clinical significance, and natural history of left ventricular apical aneurysms in hypertrophic cardiomyopathy.

PMID 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

PMID 20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

PMID 27831900 2016 Aggregate penetrance of genomic variants for actionable disorders in European and African Americans.

PMID 25637381 2015 Actionable exomic incidental findings in 6503 participants: challenges of variant classification.

PMID 27096365 2016 Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 18467358 2008 Homozygous mutation of MYBPC3 associated with severe infantile hypertrophic cardiomyopathy at high frequency among the Amish.

PMID 17937428 2007 Homozygosity for a novel splice site mutation in the cardiac myosin-binding protein C gene causes severe neonatal hypertrophic cardiomyopathy.

PMID 21835286 2011 Subclinical echocardiographic abnormalities in phenotype-negative carriers of myosin-binding protein C3 gene mutation for hypertrophic cardiomyopathy.

PMID 22574137 2012 Myocardial structural alteration and systolic dysfunction in preclinical hypertrophic cardiomyopathy mutation carriers.

PMID 19858127 2010 Unexpected myopathy associated with a mutation in MYBPC3 and misplacement of the cardiac myosin binding protein C.

PMID 16679492 2006 Two cases of severe neonatal hypertrophic cardiomyopathy caused by compound heterozygous mutations in the MYBPC3 gene.

PMID 19356534 2009 Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations.

PMID 20505798 2010 Founder mutations in hypertrophic cardiomyopathy patients in the Netherlands.

PMID 11499719 2001 Spectrum of clinical phenotypes and gene variants in cardiac myosin-binding protein C mutation carriers with hypertrophic cardiomyopathy.

PMID 12110947 2002 Mutations in the cardiac myosin-binding protein C gene are the predominant cause of familial hypertrophic cardiomyopathy in eastern Finland.

PMID 28797094 2017 Whole gene sequencing identifies deep-intronic variants with potential functional impact in patients with hypertrophic cardiomyopathy.

PMID 11815426 2002 Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly.

PMID 22178992 2012 Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function.

PMID 27483260 2016 A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

PMID 25443708 2014 Left ventricular noncompaction: a distinct cardiomyopathy or a trait shared by different cardiac diseases?

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PMID 18713777 2009 Hypertrophic cardiomyopathy and athlete's heart: a tale of two entities.

PMID 19659763 2009 A child cohort study from southern Italy enlarges the genetic spectrum of hypertrophic cardiomyopathy.

PMID 21415409 2011 In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament.

PMID 25740977 2015 A founder MYBPC3 mutation results in HCM with a high risk of sudden death after the fourth decade of life.

PMID 16566405 2005 Hypertrophic cardiomyopathy in a Portuguese population: mutations in the myosin-binding protein C gene.

PMID 22112859 2012 Prevalence and distribution of sarcomeric gene mutations in Japanese patients with familial hypertrophic cardiomyopathy.

PMID 21817903 2011 High-throughput genotyping robot-assisted method for mutation detection in patients with hypertrophic cardiomyopathy.

PMID 28356264 2017 Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

PMID 28241245 2017 The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.

PMID 27600940 2016 Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

PMID 25351510 2015 Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 20173211 2010 Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.

PMID 21835320 2011 Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

PMID 23508784 2013 Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

PMID 27108529 2016 Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue.

PMID 20031602 2009 Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

PMID 12818575 2003 Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden.

PMID 20474083 2010 A novel custom resequencing array for dilated cardiomyopathy.

PMID 23140321 2012 A human MYBPC3 mutation appearing about 10 centuries ago results in a hypertrophic cardiomyopathy with delayed onset, moderate evolution but with a risk of sudden death.

PMID 20439259 2010 Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging.

PMID 7493026 1995 Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy.

PMID 9503187 1998 Genotype-phenotype correlations in familial hypertrophic cardiomyopathy. A comparison between mutations in the cardiac protein-C and the beta-myosin heavy chain genes.

PMID 24865491 2014 Rare variants in genes encoding MuRF1 and MuRF2 are modifiers of hypertrophic cardiomyopathy.

PMID 15114369 2004 Genetic and phenotypic characterization of mutations in myosin-binding protein C (MYBPC3) in 81 families with familial hypertrophic cardiomyopathy: total or partial haploinsufficiency.

PMID 22122802 2011 Hypertrophic cardiomyopathy and ultra-endurance running - two incompatible entities?

PMID 24810389 2014 Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy.

PMID 10736283 2000 A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance.

PMID 19273718 2009 Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction.

PMID 11847170 2002 Genetic polymorphisms in the renin-angiotensin-aldosterone system associated with expression of left ventricular hypertrophy in hypertrophic cardiomyopathy: a study of five polymorphic genes in a family with a disease causing mutation in the myosin binding protein C gene.

PMID 23054336 2013 Uptake of cardiac screening and genetic testing among hypertrophic and dilated cardiomyopathy families.

PMID 25078086 2014 Nationwide study on hypertrophic cardiomyopathy in Iceland: evidence of a MYBPC3 founder mutation.

PMID 9241277 1997 Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy.

PMID 11835941 2002 A novel deletion mutation in the cardiac myosin-binding protein C gene as a cause of Maron's type IV hypertrophic cardiomyopathy.

PMID 24602869 2014 Next-generation sequencing (NGS) as a fast molecular diagnosis tool for left ventricular noncompaction in an infant with compound mutations in the MYBPC3 gene.

PMID 21551322 2011 Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

PMID 12974739 2003 Mutation spectrum in a large cohort of unrelated consecutive patients with hypertrophic cardiomyopathy.

PMID 20359594 2010 Clinical features and outcome of hypertrophic cardiomyopathy associated with triple sarcomere protein gene mutations.

PMID 16335287 2005 Malignant mutations in hypertrophic cardiomyopathy: fact or fancy?

PMID 26383716 2015 Prognostic Relevance of Gene-Environment Interactions in Patients With Dilated Cardiomyopathy: Applying the MOGE(S) Classification.

PMID 28771489 2017 Additional value of screening for minor genes and copy number variants in hypertrophic cardiomyopathy.

PMID 9218526 1997 Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein.

PMID 20128375 2009 [Link between cardiac myosin binding protein-C gene mutation of Pro1208fs and Gly507 Arg and hypertrophic cardiomyopathy in Chinese patients].

PMID 23283745 2013 Multiple gene mutations, not the type of mutation, are the modifier of left ventricle hypertrophy in patients with hypertrophic cardiomyopathy.

PMID 26090888 2015 Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

PMID 25524337 2014 Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.

PMID 30165862 2018 Molecular analysis of inherited cardiomyopathy using next generation semiconductor sequencing technologies.

PMID 22589294 2012 Prevalence of sequence variants in the RAS-mitogen activated protein kinase signaling pathway in pre-adolescent children with hypertrophic cardiomyopathy.

PMID 28971120 2017 Data on exercise and cardiac imaging in a patient cohort with hypertrophic cardiomyopathy.

PMID 18374358 2008 Crystal structure of the C1 domain of cardiac myosin binding protein-C: implications for hypertrophic cardiomyopathy.

PMID 14613868 2003 Biomolecular interactions between human recombinant beta-MyHC and cMyBP-Cs implicated in familial hypertrophic cardiomyopathy.

PMID 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

PMID 15769446 2005 Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants.

PMID 20159828 2010 Ubiquitin proteasome dysfunction in human hypertrophic and dilated cardiomyopathies.

PMID 17908752 2007 Contribution of inherited heart disease to sudden cardiac death in childhood.

PMID 22907696 2012 A case of compound mutations in the MYBPC3 gene associated with biventricular hypertrophy and neonatal death.

PMID 20414521 2010 [Study of mutations causing hypertrophic cardiomyopathy in a group of patients from Espirito Santo, Brazil].

PMID 22563033 2012 Prevalence and clinical profile of myocardial crypts in hypertrophic cardiomyopathy.

PMID 19590044 2009 Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice.

PMID 23980194 2013 E258K HCM-causing mutation in cardiac MyBP-C reduces contractile force and accelerates twitch kinetics by disrupting the cMyBP-C and myosin S2 interaction.

PMID 23527136 2013 Molecular modeling of disease causing mutations in domain C1 of cMyBP-C.

PMID 24033266 2013 A systematic approach to assessing the clinical significance of genetic variants.

PMID 20800588 2010 Development of a high resolution melting method for the detection of genetic variations in hypertrophic cardiomyopathy.

PMID 27834932 2016 Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.

PMID 21488307 2010 Novel human pathological mutations. Gene symbol: MYBPC3. Disease: cardiomyopathy, hypertrophic.

PMID 2943217 1986 Splicing of messenger RNA precursors.

PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

PMID 25228707 2014 Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy.

PMID 20378854 2010 Short communication: the cardiac myosin binding protein C Arg502Trp mutation: a common cause of hypertrophic cardiomyopathy.

PMID 18761664 2008 Impact of multiple gene mutations in determining the severity of cardiomyopathy and heart failure.

PMID 28420666 2017 Prevalence and Clinical Implication of Double Mutations in Hypertrophic Cardiomyopathy: Revisiting the Gene-Dose Effect.

PMID 25086479 2015 Detection of mutations in symptomatic patients with hypertrophic cardiomyopathy in Taiwan.

PMID 22455086 2012 Spectrum and clinical manifestations of mutations in genes responsible for hypertrophic cardiomyopathy.

PMID 25849606 2015 Functional characterization of putative novel splicing mutations in the cardiomyopathy-causing genes.

PMID 17081393 2006 [Familiar hypertrophic cardiomyopathy caused by a IVS15-1G > A mutation in cardiac myosin-binding protein C gene].

PMID 21165360 2010 Two novel mutations of the MYBPC3 gene identified in Chinese families with hypertrophic cardiomyopathy.

PMID 29255176 2017 Repeat genetic testing with targeted capture sequencing in primary arrhythmia syndrome and cardiomyopathy.

PMID 16061003 2005 [A frame shift mutation, Arg346fs mutation, is identified in cardiac myosin-binding protein C gene in a Chinese family with hypertrophic cardiomyopathy].

PMID 21425739 2011 Genetic diagnosis of hypertrophic cardiomyopathy using mass spectrometry DNA arrays and high resolution melting.

PMID 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

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rs121909374 in MYBPC3 gene and LEFT VENTRICULAR NONCOMPACTION 10 PMID 9048664 1997 Organization and sequence of human cardiac myosin binding protein C gene (MYBPC3) and identification of mutations predicted to produce truncated proteins in familial hypertrophic cardiomyopathy.

PMID 23299917 2013 New population-based exome data are questioning the pathogenicity of previously cardiomyopathy-associated genetic variants.

PMID 22057632 2012 How do MYBPC3 mutations cause hypertrophic cardiomyopathy?

PMID 20433692 2010 Screening mutations in myosin binding protein C3 gene in a cohort of patients with Hypertrophic Cardiomyopathy.

PMID 20215591 2010 Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy.

PMID 21551322 2011 Sarcomere gene mutations in isolated left ventricular noncompaction cardiomyopathy do not predict clinical phenotype.

rs201278114 in MYBPC3 gene and Left Ventricular Hypertrophy PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

rs727503166 in MYBPC3 gene and Left ventricular noncompaction PMID 20031619 2009 Sarcomere mutations in cardiomyopathy with left ventricular hypertrabeculation.

rs977277400 in MYBPC3 gene and Muscle hypotonia PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

rs977277400 in MYBPC3 gene and Overgrowth PMID 22464770 2012 Genetic testing for dilated cardiomyopathy in clinical practice.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 21492761 2011 Update 2011: clinical and genetic issues in familial dilated cardiomyopathy.

PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 10424815 1999 Double heterozygosity for mutations in the beta-myosin heavy chain and in the cardiac myosin binding protein C genes in a family with hypertrophic cardiomyopathy.

PMID 23840593 2013 Autosomal recessive transmission of MYBPC3 mutation results in malignant phenotype of hypertrophic cardiomyopathy.

PMID 7493025 1995 Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy.

rs2290146 in MYBPC3 gene and Serum HDL cholesterol measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs201278114 in MYBPC3 gene and Sudden death PMID 27435932 2016 Postmortem genetic screening for the identification, verification, and reporting of genetic variants contributing to the sudden death of the young.

rs2301216 in MYBPC3 gene and Systolic Pressure PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2697920 in MYBPC3 gene and Tonometry PMID 30054594 2018 Genome-wide association study of intraocular pressure uncovers new pathways to glaucoma.

rs10769254 in MYBPC3 gene and Triglycerides measurement PMID 30698716 2019 Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions.

PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.

rs2856656 in MYBPC3 gene and Venous Thrombosis PMID 22675575 2012 Caution in interpreting results from imputation analysis when linkage disequilibrium extends over a large distance: a case study on venous thrombosis.

rs397515912 in MYBPC3 gene and Wolff-Parkinson-White Syndrome, CTCAE PMID 23508784 2013 Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations.

PMID 24793961 2014 Characterization of a phenotype-based genetic test prediction score for unrelated patients with hypertrophic cardiomyopathy.

PMID 20031602 2009 Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy.

PMID 16858239 2006 A molecular screening strategy based on beta-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic cardiomyopathy.

PMID 20173211 2010 Efficacy of catheter ablation for atrial fibrillation in hypertrophic cardiomyopathy: impact of age, atrial remodelling, and disease progression.

PMID 28241245 2017 The Burden of Early Phenotypes and the Influence of Wall Thickness in Hypertrophic Cardiomyopathy Mutation Carriers: Findings From the HCMNet Study.

PMID 21750094 2011 Novel correlations between the genotype and the phenotype of hypertrophic and dilated cardiomyopathy: results from the German Competence Network Heart Failure.

PMID 22765922 2012 Resequencing the whole MYH7 gene (including the intronic, promoter, and 3' UTR sequences) in hypertrophic cardiomyopathy.

PMID 27483260 2016 A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort.

PMID 28356264 2017 Screening of the Filamin C Gene in a Large Cohort of Hypertrophic Cardiomyopathy Patients.

PMID 23690394 2013 Comparison of echocardiographic and cardiac magnetic resonance imaging in hypertrophic cardiomyopathy sarcomere mutation carriers without left ventricular hypertrophy.

PMID 25351510 2015 Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.

PMID 20624503 2011 Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy.

PMID 27600940 2016 Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy.

PMID 21835320 2011 Microvascular function is selectively impaired in patients with hypertrophic cardiomyopathy and sarcomere myofilament gene mutations.

PMID 19150014 2009 [Mutations in sarcomeric genes MYH7, MYBPC3, TNNT2, TNNI3, and TPM1 in patients with hypertrophic cardiomyopathy].

PMID 27108529 2016 Comparison of the effects of a truncating and a missense MYBPC3 mutation on contractile parameters of engineered heart tissue.

PMID 28193612 2017 Lack of Phenotypic Differences by Cardiovascular Magnetic Resonance Imaging in MYH7 (β-Myosin Heavy Chain)- Versus MYBPC3 (Myosin-Binding Protein C)-Related Hypertrophic Cardiomyopathy.

PMID 18533079 2008 Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy.

PMID 27532257 2017 Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

rs7928073 in MYBPC3 gene and mathematical ability PMID 30038396 2018 Gene discovery and polygenic prediction from a genome-wide association study of educational attainment in 1.1 million individuals.