Condition: Familial Hypertrophic Cardiomyopathy Type 4


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.