Xcode Life

Condition: Hypertrophic Cardiomyopathy

rs193922680 in ACTC1;LOC101928174 gene and Hypertrophic Cardiomyopathy

PMID 17611253 2007 The E101K mutation in the alpha-cardiac actin gene (ACTC) has been associated with apical hypertrophic cardiomyopathy (HCM).

PMID 16611632 2006 Functional consequences of a mutation in an expressed human alpha-cardiac actin at a site implicated in familial hypertrophic cardiomyopathy.

PMID 10966831 2000 Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy.

PMID 21622575 2011 Molecular mechanism of the E99K mutation in cardiac actin (ACTC Gene) that causes apical hypertrophy in man and mouse.

PMID 19799913 2010 Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro.

PMID 24736382 2014 Altered interactions between cardiac myosin binding protein-C and α-cardiac actin variants associated with cardiomyopathies.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

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

rs727502886 in ACTN2 gene and Hypertrophic Cardiomyopathy

PMID 20022194 2010 Mutations in alpha-actinin-2 cause hypertrophic cardiomyopathy: a genome-wide analysis.

rs200889953 in ALPK3 gene and Hypertrophic Cardiomyopathy

PMID 21441111 2012 Cardiomyopathy in α-kinase 3 (ALPK3)-deficient mice.

PMID 26846950 2016 Biallelic Truncating Mutations in ALPK3 Cause Severe Pediatric Cardiomyopathy.

PMID 27106955 2016 ALPK3-deficient cardiomyocytes generated from patient-derived induced pluripotent stem cells and mutant human embryonic stem cells display abnormal calcium handling and establish that ALPK3 deficiency underlies familial cardiomyopathy.

rs180177035 in BRAF gene and Hypertrophic Cardiomyopathy

PMID 16439621 2006 Germline mutations in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome.

PMID 16474404 2006 Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome.

rs516514 in FHOD3 gene and Hypertrophic Cardiomyopathy

PMID 23255317 2013 Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.

rs796051877 in GAA gene and Hypertrophic Cardiomyopathy

PMID 26160551 2015 c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

rs199473684 in GLA;RPL36A-HNRNPH2 gene and Hypertrophic Cardiomyopathy

PMID 22437327 2012 Fabry disease: incidence of the common later-onset α-galactosidase A IVS4+919G→A mutation in Taiwanese newborns--superiority of DNA-based to enzyme-based newborn screening for common mutations.

PMID 28082092 2017 Energy utilization of induced pluripotent stem cell-derived cardiomyocyte in Fabry disease.

PMID 27595546 2016 The prevalent deep intronic c. 639+919 G>A GLA mutation causes pseudoexon activation and Fabry disease by abolishing the binding of hnRNPA1 and hnRNP A2/B1 to a splicing silencer.

PMID 20031620 2009 High incidence of the cardiac variant of Fabry disease revealed by newborn screening in the Taiwan Chinese population.

PMID 19621417 2009 Newborn screening for Fabry disease in Taiwan reveals a high incidence of the later-onset GLA mutation c.936+919G>A (IVS4+919G>A).

PMID 11828341 2002 Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype.

PMID 19823873 2010 Transposable elements in disease-associated cryptic exons.

PMID 27931613 2016 Later Onset Fabry Disease, Cardiac Damage Progress in Silence: Experience With a Highly Prevalent Mutation.

PMID 28430823 2017 Modulation the alternative splicing of GLA (IVS4+919G>A) in Fabry disease.

PMID 20821055 2010 Enzyme assay and clinical assessment in subjects with a Chinese hotspot late-onset Fabry mutation (IVS4 + 919G→A).

PMID 27554049 2017 Prevalence and clinical features of Fabry disease in Japanese male patients with diagnosis of hypertrophic cardiomyopathy.

PMID 23109060 2013 Lyso-globotriaosylsphingosine (lyso-Gb3) levels in neonates and adults with the Fabry disease later-onset GLA IVS4+919G>A mutation.

PMID 28377241 2017 Genetic epidemiological study doesn't support GLA IVS4+919G>A variant is a significant mutation in Fabry disease.

PMID 10666480 1999 Twenty novel mutations in the alpha-galactosidase A gene causing Fabry disease.

PMID 17555407 2007 Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.

PMID 15702404 2005 Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease.

PMID 23568732 2013 [Genetic and clinical study of three Chinese pedigrees with Fabry disease].

PMID 7504405 1993 Nature and frequency of mutations in the alpha-galactosidase A gene that cause Fabry disease.

PMID 21598360 2011 A pharmacogenetic approach to identify mutant forms of α-galactosidase A that respond to a pharmacological chaperone for Fabry disease.

PMID 21972175 2012 Functional analysis of variant lysosomal acid glycosidases of Anderson-Fabry and Pompe disease in a human embryonic kidney epithelial cell line (HEK 293 T).

PMID 29018006 2017 α-Galactosidase A Genotype N215S Induces a Specific Cardiac Variant of Fabry Disease.

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

PMID 7911050 1994 Molecular basis of Fabry disease: mutations and polymorphisms in the human alpha-galactosidase A gene.

PMID 8395937 1993 Mutation analysis in patients with the typical form of Anderson-Fabry disease.

PMID 7575533 1995 Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease.

PMID 11914245 2002 Prevalence of Anderson-Fabry disease in male patients with late onset hypertrophic cardiomyopathy.

rs104894858 in LAMP2 gene and Hypertrophic Cardiomyopathy

PMID 18555174 2008 Danon disease: an unusual presentation of autism.

PMID 19318653 2009 Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.

PMID 15673802 2005 Glycogen storage diseases presenting as hypertrophic cardiomyopathy.

PMID 16217705 2005 Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP-2 gene mutation.

PMID 19373884 2009 Danon disease: further clinical and molecular heterogeneity.

PMID 20445193 2010 End-stage cardiac disease as an initial presentation of systemic myopathies: case series and literature review.

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

PMID 22695892 2012 Danon disease: focusing on heart.

rs730880404 in LOC101928174;ACTC1 gene and Hypertrophic Cardiomyopathy

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

PMID 25239116 2014 Advanced heart failure with preserved systolic function in nonobstructive hypertrophic cardiomyopathy: under-recognized subset of candidates for heart transplant.

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

rs104894229 in LRRC56;HRAS gene and Hypertrophic Cardiomyopathy

PMID 19206176 2009 Male-to-male transmission of Costello syndrome: G12S HRAS germline mutation inherited from a father with somatic mosaicism.

PMID 16881968 2006 Recurring HRAS mutation G12S in Dutch patients with Costello syndrome.

PMID 16969868 2006 Somatic mosaicism for an HRAS mutation causes Costello syndrome.

PMID 16372351 2006 HRAS mutations in Costello syndrome: detection of constitutional activating mutations in codon 12 and 13 and loss of wild-type allele in malignancy.

PMID 16443854 2006 Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases.

PMID 16329078 2006 HRAS mutation analysis in Costello syndrome: genotype and phenotype correlation.

PMID 17054105 2007 Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

PMID 16170316 2005 Germline mutations in HRAS proto-oncogene cause Costello syndrome.

PMID 18039947 2008 Severe neonatal manifestations of Costello syndrome.

rs397516207 in MHRT;MIR208B;MYH7 gene and Hypertrophic Cardiomyopathy

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

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

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

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

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

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

PMID 28449774 2017 Utility of Post-Mortem Genetic Testing in Cases of Sudden Arrhythmic Death Syndrome.

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

rs193922390 in MHRT;MYH7 gene and Hypertrophic Cardiomyopathy

PMID 15483641 2005 One third of Danish hypertrophic cardiomyopathy patients with MYH7 mutations have mutations [corrected] in MYH7 rod region.

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

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

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

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

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

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

PMID 15322983 2004 Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

PMID 12975303 2003 The second kindred with autosomal dominant distal myopathy linked to chromosome 14q: genetic and clinical analysis.

PMID 25574480 2014 Laing distal myopathy pathologically resembling inclusion body myositis.

PMID 20733148 2010 MYH7 gene tail mutation causing myopathic profiles beyond Laing distal myopathy.

PMID 21395566 2012 Spanish MYH7 founder mutation of Italian ancestry causing a large cluster of Laing myopathy patients.

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

PMID 26573135 2015 Investigation of Pathogenic Genes in Chinese sporadic Hypertrophic Cardiomyopathy Patients by Whole Exome Sequencing.

PMID 25214167 2014 MotorPlex provides accurate variant detection across large muscle genes both in single myopathic patients and in pools of DNA samples.

PMID 27387980 2016 MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.

PMID 24664454 2014 Novel mutations widen the phenotypic spectrum of slow skeletal/β-cardiac myosin (MYH7) distal myopathy.

rs145213771 in MHRT;MYH7;MIR208B gene and Hypertrophic 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 15358028 2004 Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.

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

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

rs727503246 in MIR208B;MYH7 gene and Hypertrophic Cardiomyopathy

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

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

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

PMID 15856146 2005 Prevalence of cardiac beta-myosin heavy chain gene mutations in patients with 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 23782526 2013 Somatic MYH7, MYBPC3, TPM1, TNNT2 and TNNI3 mutations in sporadic hypertrophic cardiomyopathy.

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?

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

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.

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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.

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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.

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

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PMID 9826622 1998 Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

PMID 10086390 1999 The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation.

PMID 8614836 1996 A mouse model of familial hypertrophic cardiomyopathy.

PMID 12084606 2002 Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

PMID 1638703 1992 Differences in clinical expression of hypertrophic cardiomyopathy associated with two distinct mutations in the beta-myosin heavy chain gene. A 908Leu----Val mutation and a 403Arg----Gln mutation.

PMID 17351073 2007 Hypertrophic and dilated cardiomyopathy mutations differentially affect the molecular force generation of mouse alpha-cardiac myosin in the laser trap assay.

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

PMID 10882745 2000 Functional consequences of mutations in the smooth muscle myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy.

PMID 11227787 2000 R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level.

PMID 24928957 2014 Faster cross-bridge detachment and increased tension cost in human hypertrophic cardiomyopathy with the R403Q MYH7 mutation.

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PMID 12975413 2003 Mutations of the beta myosin heavy chain gene in hypertrophic cardiomyopathy: critical functional sites determine prognosis.

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PMID 10764406 2000 Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy.

PMID 17987111 2007 The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.

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

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

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PMID 1552912 1992 Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy.

PMID 22260945 2012 Conduction abnormalities in pediatric patients with restrictive cardiomyopathy.

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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 7731997 1995 Structural interpretation of the mutations in the beta-cardiac myosin that have been implicated in familial hypertrophic cardiomyopathy.

PMID 15858117 2005 Denaturing high performance liquid chromatography: high throughput mutation screening in familial hypertrophic cardiomyopathy and SNP genotyping in motor neurone disease.

PMID 17599605 2007 Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

PMID 24344137 2014 The hypertrophic cardiomyopathy myosin mutation R453C alters ATP binding and hydrolysis of human cardiac β-myosin.

PMID 23798412 2013 Molecular consequences of the R453C hypertrophic cardiomyopathy mutation on human β-cardiac myosin motor function.

PMID 10662815 2000 First description of germline mosaicism in familial hypertrophic cardiomyopathy.

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

PMID 12881443 2003 MYH7 R453C was present in a woman with mild HC, mother of a son who died from SCD.

PMID 15001446 2004 Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium.

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

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

PMID 21769673 2011 Unequal allelic expression of wild-type and mutated β-myosin in familial hypertrophic cardiomyopathy.

PMID 8335820 1993 Left ventricular hypertrophy and morphology in familial hypertrophic cardiomyopathy associated with mutations of the beta-myosin heavy chain gene.

PMID 22429680 2012 High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

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

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

PMID 23408646 2013 Structural insight into the UNC-45-myosin complex.

PMID 10567705 1999 Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein.

PMID 9062359 1997 Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication.

PMID 12953063 2003 Mutations in the motor domain modulate myosin activity and myofibril organization.

PMID 8250038 1993 Independent origin of identical beta cardiac myosin heavy-chain mutations in hypertrophic cardiomyopathy.

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

PMID 12566107 2003 Outcome of clinical versus genetic family screening in hypertrophic cardiomyopathy with focus on cardiac beta-myosin gene mutations.

PMID 11424919 2001 Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy.

PMID 17383184 2007 Here, we describe a unique combination of hypertrophic cardiomyopathy and hypertrophic distal myopathy in a family with a MYH7 Val606Met mutation (exon 16).

PMID 20819418 2010 Mutations in the beta-myosin heavy chain gene in southern Chinese families with hypertrophic cardiomyopathy.

PMID 18411228 2008 The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy.

PMID 8281650 1994 Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations.

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

PMID 11377367 2001 The Val606Met mutation in the cardiac beta-myosin heavy chain gene in patients with familial hypertrophic cardiomyopathy is associated with a high risk of sudden death at young age.

PMID 9058851 1997 Hypertrophic cardiomyopathy: evaluation and treatment of patients at high risk for sudden death.

PMID 8788376 1995 A missense mutation in the beta-myosin heavy chain gene in a Japanese patient with hypertrophic cardiomyopathy.

PMID 10024460 1999 Mutations in beta-myosin S2 that cause familial hypertrophic cardiomyopathy (FHC) abolish the interaction with the regulatory domain of myosin-binding protein-C.

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

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

PMID 1430197 1992 Sporadic hypertrophic cardiomyopathy due to de novo myosin mutations.

PMID 15550524 2005 Hypertrophic cardiomyopathy-related beta-myosin mutations cause highly variable calcium sensitivity with functional imbalances among individual muscle cells.

PMID 11113006 2000 Malignant hypertrophic cardiomyopathy caused by the Arg723Gly mutation in beta-myosin heavy chain gene.

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

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

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

PMID 17097032 2006 Mutation of Arg723Gly in beta-myosin heavy chain gene in five Chinese families with hypertrophic cardiomyopathy.

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PMID 19651039 2009 Cardiomyopathy mutations reveal variable region of myosin converter as major element of cross-bridge compliance.

PMID 20865685 2010 The left and right ventricle of a patient with a R723G mutation of the beta-myosin heavy chain and severe hypertrophic cardiomyopathy show no differences in the expression of myosin mRNA.

PMID 18020371 2007 Quantification of mutant versus wild-type myosin in human muscle biopsies using nano-LC/ESI-MS.

PMID 9829907 1998 Genotype-phenotype analysis in four families with mutations in beta-myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

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PMID 8514894 1993 Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy.

PMID 8483915 1993 Missense mutations in the beta-myosin heavy-chain gene cause central core disease in hypertrophic cardiomyopathy.

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PMID 21642240 2011 Molecular genetic and functional characterization implicate muscle-restricted coiled-coil gene (MURC) as a causal gene for familial dilated cardiomyopathy.

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

PMID 8435239 1993 Identification of a mutation in the beta cardiac myosin heavy chain gene in a family with hypertrophic cardiomyopathy.

PMID 9140824 1997 Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients.

PMID 11196015 2000 N232S, G741R and D778G beta-cardiac myosin mutants, implicated in familial hypertrophic cardiomyopathy, do not disrupt myofibrillar organisation in cultured myotubes.

PMID 21216834 2011 Junctophilin-2 expression silencing causes cardiocyte hypertrophy and abnormal intracellular calcium-handling.

PMID 8533830 1995 Missense mutation of the beta-cardiac myosin heavy-chain gene in hypertrophic cardiomyopathy.

PMID 28246639 2017 Biophysical properties of human β-cardiac myosin with converter mutations that cause hypertrophic cardiomyopathy.

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PMID 25935763 2015 Phenotype and prognostic correlations of the converter region mutations affecting the β myosin heavy chain.

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

PMID 12473556 2002 Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).

PMID 9172070 1997 The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy.

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

PMID 19645038 2009 A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.

PMID 24829265 2014 β-Myosin heavy chain variant Val606Met causes very mild hypertrophic cardiomyopathy in mice, but exacerbates HCM phenotypes in mice carrying other HCM mutations.

PMID 23816408 2013 Detection of a large duplication mutation in the myosin-binding protein C3 gene in a case of hypertrophic cardiomyopathy.

PMID 24888384 2014 A new common mutation in the cardiac beta-myosin heavy chain gene in Finnish patients with hypertrophic cardiomyopathy.

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

PMID 11904418 2002 Mutation of the myosin converter domain alters cross-bridge elasticity.

PMID 16504640 2006 Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.

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PMID 10957787 2000 Apical hypertrophic cardiomyopathy due to a de novo mutation Arg719Trp of the beta-myosin heavy chain gene and cardiac arrest in childhood. A case report and family study.

PMID 8282798 1994 Prognostic implications of novel beta cardiac myosin heavy chain gene mutations that cause familial hypertrophic cardiomyopathy.

PMID 9544842 1998 A high risk phenotype of hypertrophic cardiomyopathy associated with a compound genotype of two mutated beta-myosin heavy chain genes.

PMID 29029073 2017 Clinical genetics and outcome of left ventricular non-compaction cardiomyopathy.

PMID 9154300 1997 Prognostic significance of beta-myosin heavy chain mutations is reflective of their hypertrophic expressivity in patients with hypertrophic cardiomyopathy.

PMID 28296734 2017 Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.

PMID 9001794 1996 DNA testing in familial hypertrophic cardiomyopathy: clinical and laboratory implications.

PMID 9822100 1998 The cardiac beta-myosin heavy chain gene is not the predominant gene for hypertrophic cardiomyopathy in the Finnish population.

PMID 29300372 2018 Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.

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PMID 15000344 2004 Genetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypes.

PMID 18953637 2009 Genotype phenotype correlations of cardiac beta-myosin heavy chain mutations in Indian patients with hypertrophic and dilated cardiomyopathy.

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

PMID 9874056 1998 Early expression of a malignant phenotype of familial hypertrophic cardiomyopathy associated with a Gly716Arg myosin heavy chain mutation in a Korean family.

PMID 11498078 2001 A malignant phenotype of hypertrophic cardiomyopathy caused by Arg719Gln cardiac beta-myosin heavy-chain mutation in a Chinese family.

PMID 7848441 1994 A new missense mutation, Arg719Gln, in the beta-cardiac heavy chain myosin gene of patients with familial hypertrophic cardiomyopathy.

PMID 10521296 1999 The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

PMID 12473556 2002 Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).

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

PMID 20309391 2010 Serial observations and mutational analysis of an adoptee with family history of hypertrophic cardiomyopathy.

PMID 24621997 2013 Sarcomere gene mutations are associated with increased cardiovascular events in left ventricular hypertrophy: results from multicenter registration in Japan.

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

PMID 10862102 2000 Novel cardiac beta-myosin heavy chain gene missense mutations (R869C and R870C) that cause familial hypertrophic cardiomyopathy.

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

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

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

PMID 17180650 2006 Midventricular obstruction and clinical decision-making in obstructive hypertrophic cardiomyopathy.

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

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

PMID 12081993 2002 Assessment of diastolic function with Doppler tissue imaging to predict genotype in preclinical hypertrophic cardiomyopathy.

PMID 16267253 2005 Gene mutations in apical hypertrophic cardiomyopathy.

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

PMID 21799269 2011 Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 27788187 2016 Genetic Variants in Isolated Ebstein Anomaly Implicated in Myocardial Development Pathways.

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

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

PMID 22958901 2012 Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.

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

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

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

PMID 25937619 2015 A Variant Detection Pipeline for Inherited Cardiomyopathy-Associated Genes Using Next-Generation Sequencing.

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

PMID 20975235 2010 Impact of renin-angiotensin system polymorphisms on development of systolic dysfunction in hypertrophic cardiomyopathy. Evidence from a study of genotyped patients.

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

PMID 28498465 2017 Identification of a novel hypertrophic cardiomyopathy-associated mutation using targeted next-generation sequencing.

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PMID 19149795 2009 Impact of QT variables on clinical outcome of genotyped hypertrophic cardiomyopathy.

PMID 10065021 1998 Coexistence of mitochondrial DNA and beta myosin heavy chain mutations in hypertrophic cardiomyopathy with late congestive heart failure.

PMID 1944483 1991 Preclinical diagnosis of familial hypertrophic cardiomyopathy by genetic analysis of blood lymphocytes.

PMID 24298987 2014 Confirmation of cause and manner of death via a comprehensive cardiac autopsy including whole exome next-generation sequencing.

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

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

PMID 7662452 1995 Clinical and prognostic evaluation of familial hypertrophic cardiomyopathy in two South African families with different cardiac beta myosin heavy chain gene mutations.

PMID 9140839 1997 The influence of the angiotensin I converting enzyme genotype in familial hypertrophic cardiomyopathy varies with the disease gene mutation.

PMID 8268932 1993 Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

PMID 8254035 1993 Familial hypertrophic cardiomyopathy. Microsatellite haplotyping and identification of a hot spot for mutations in the beta-myosin heavy chain gene.

PMID 17612745 2008 Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.

PMID 19880069 2009 Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.

PMID 17125710 2006 [Beta-myosin heavy-chain gene mutations in patients with hypertrophic cardiomyopathy].

PMID 18029407 2008 Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

PMID 11186938 2000 Expression of HCM causing mutations: lessons learnt from genotype-phenotype studies of the South African founder MYH7 A797T mutation.

PMID 7581410 1995 Identification of a novel Ala797Thr mutation in exon 21 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy.

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

PMID 17703256 2007 A p.R870H mutation in the beta-cardiac myosin heavy chain 7 gene causes familial hypertrophic cardiomyopathy in several members of an Indian family.

PMID 16650083 2006 Genotype-phenotype correlation of R870H mutation in hypertrophic cardiomyopathy.

PMID 21674835 2011 The Arg870His and Asp778Val amino acid alterations were found in 2 unrelated patients with a severe form of hypertrophic cardiomyopathy.

PMID 7796500 1995 A myosin missense mutation, not a null allele, causes familial hypertrophic cardiomyopathy.

PMID 12820698 2003 Utility of genetic screening in hypertrophic cardiomyopathy: prevalence and significance of novel and double (homozygous and heterozygous) beta-myosin mutations.

PMID 10750581 1999 Familial hypertrophic cardiomyopathy and atrial fibrillation caused by Arg663His beta-cardiac myosin heavy chain mutation.

PMID 23290139 2013 Abnormal calcium handling properties underlie familial hypertrophic cardiomyopathy pathology in patient-specific induced pluripotent stem cells.

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

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

PMID 23197161 2013 Penetrance of hypertrophic cardiomyopathy in children and adolescents: a 12-year follow-up study of clinical screening and predictive genetic testing.

PMID 19586842 2009 [The genotype-phenotype correlation of the MYH7 gene c.1273G > a mutation in familial hypertrophic cardiomyopathy].

PMID 29497013 2018 Genetic basis of channelopathies and cardiomyopathies in Hong Kong Chinese patients: a 10-year regional laboratory experience.

PMID 20428263 2001 Familial hypertrophic cardiomyopathy owing to double heterozygosity for a 403Arg--> Trp mutation in exon 13 of the MYH7 gene and a novel mutation, 453Arg--> His, in exon 14 of the MYH7 gene: A case report.

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

PMID 18383048 2008 Worse prognosis with gene mutations of beta-myosin heavy chain than myosin-binding protein C in Chinese patients with hypertrophic cardiomyopathy.

PMID 25714468 2014 A systematic approach to the reporting of medically relevant findings from whole genome sequencing.

PMID 27082122 2016 Identification of novel mutations including a double mutation in patients with inherited cardiomyopathy by a targeted sequencing approach using the Ion Torrent PGM system.

PMID 23785128 2013 Targeted sequence capture and GS-FLX Titanium sequencing of 23 hypertrophic and dilated cardiomyopathy genes: implementation into diagnostics.

PMID 20350521 2010 A novel cardiac myosin-binding protein C S297X mutation in hypertrophic cardiomyopathy.

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

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

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

PMID 25892673 2015 Targeted next-generation sequencing (NGS) of nine candidate genes with custom AmpliSeq in patients and a cardiomyopathy risk group.

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 21896538 2011 Genetic basis of end-stage hypertrophic cardiomyopathy.

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

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

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

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

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 19134269 2008 [The genotype-phenotype correlation of MYH7 gene G15391A mutation and MYBPC3 gene G12101A mutation in familial hypertrophic cardiomyopathy].

PMID 11968089 2002 Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.

PMID 30275503 2018 Hypertrophic cardiomyopathy disease results from disparate impairments of cardiac myosin function and auto-inhibition.

PMID 28606303 2017 Effects of myosin variants on interacting-heads motif explain distinct hypertrophic and dilated cardiomyopathy phenotypes.

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

PMID 20075948 2010 Molecular basis of hereditary cardiomyopathy: abnormalities in calcium sensitivity, stretch response, stress response and beyond.

PMID 21252143 2011 Targeted next-generation sequencing for the molecular genetic diagnostics of cardiomyopathies.

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

PMID 11433818 2001 Molecular etiology of idiopathic cardiomyopathy in Asian populations.

PMID 19843903 2009 Implications of hypertrophic cardiomyopathy transmitted by sperm donation.

PMID 27841901 2017 Clinical features, spectrum of causal genetic mutations and outcome of hypertrophic cardiomyopathy in South Africans.

PMID 17438619 2007 Gene symbol: MYH7.

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

PMID 15008060 2003 Familial hypertrophic cardiomyopathy: the same mutation, different prognosis. Comparison of two families with a long follow-up.

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

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

PMID 21483645 2011 Rare variant mutations identified in pediatric patients with dilated cardiomyopathy.

PMID 28005231 2017 Life-long tailoring of management for patients with hypertrophic cardiomyopathy : Awareness and decision-making in changing scenarios.

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

PMID 15556047 2004 Two novel mutations in the beta-myosin heavy chain gene associated with dilated cardiomyopathy.

PMID 20038417 2009 Hypertrophic cardiomyopathy. A study of the troponin-T gene in 127 Spanish families.

PMID 20394946 2010 A fetus with hypertrophic cardiomyopathy, restrictive, and single-ventricle physiology, and a beta-myosin heavy chain mutation.

PMID 18076673 2008 Pediatric restrictive cardiomyopathy associated with a mutation in beta-myosin heavy chain.

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

PMID 16630449 2006 [Analysis of MYH7, MYBPC3 and TNNT2 gene mutations in 10 Chinese pedigrees with familial hypertrophic cardiomyopathy and the correlation between genotype and phenotype].

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

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

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

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 19666645 2009 Disease penetrance and risk stratification for sudden cardiac death in asymptomatic hypertrophic cardiomyopathy mutation carriers.

PMID 20646679 2010 Diagnostic yield in sudden unexplained death and aborted cardiac arrest in the young: the experience of a tertiary referral center in The Netherlands.

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

PMID 23197398 2013 Impact of systolic dysfunction in genotyped hypertrophic cardiomyopathy.

PMID 23271734 2013 Z-band alternatively spliced PDZ motif protein (ZASP) is the major O-linked β-N-acetylglucosamine-substituted protein in human heart myofibrils.

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

PMID 10328076 1999 Advances in molecular genetics and management of hypertrophic cardiomyopathy.

PMID 27161364 2016 Isolation and Mechanical Measurements of Myofibrils from Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes.

PMID 2062450 1991 Central serotonergic S2 binding in Papio anubis measured in vivo with N-omega-[18F]fluoroethylketanserin and PET.

PMID 12881443 2003 We found MYH7 Met822Val in a woman with a severe form of HC; the mutation was absent in her parents, indicating a de novo mutation.

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

PMID 20594303 2010 Functional polymorphisms in genes of the Angiotensin and Serotonin systems and risk of hypertrophic cardiomyopathy: AT1R as a potential modifier.

rs28933098 in MYH7;MHRT gene and Hypertrophic Cardiomyopathy

PMID 19336582 2009 Mutations in the beta-myosin rod cause myosin storage myopathy via multiple mechanisms.

PMID 14520662 2003 Myosin storage myopathy associated with a heterozygous missense mutation in MYH7.

PMID 15699387 2005 Myosin storage myopathy: slow skeletal myosin (MYH7) mutation in two isolated cases.

PMID 17118657 2006 Myosin storage (hyaline body) myopathy: a case report.

PMID 17336526 2007 MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.

PMID 20376763 2010 [Myosin storage myopathy: a rare subtype of protein aggregate myopathies].

rs397516201 in MYH7;MIR208B gene and Hypertrophic Cardiomyopathy

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

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

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

PMID 26743238 2016 Patient Outcomes From a Specialized Inherited Arrhythmia Clinic.

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

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 28202948 2017 Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors.

PMID 27247418 2016 Multidimensional structure-function relationships in human β-cardiac myosin from population-scale genetic variation.

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

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

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

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

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

PMID 16352453 2006 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

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

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 11861413 2002 Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in 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 28790153 2017 Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing.

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

PMID 16918501 2007 Localization of the binding site of the C-terminal domain of cardiac myosin-binding protein-C on the myosin rod.

rs104894368 in MYL2 gene and Hypertrophic Cardiomyopathy

PMID 12668451 2003 Mechanical defects of muscle fibers with myosin light chain mutants that cause cardiomyopathy.

PMID 9724616 1998 Structural and functional responses of mammalian thick filaments to alterations in myosin regulatory light chains.

PMID 8673105 1996 Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle.

PMID 16751284 2006 E22K mutation of RLC that causes familial hypertrophic cardiomyopathy in heterozygous mouse myocardium: effect on cross-bridge kinetics.

PMID 11102452 2001 Familial hypertrophic cardiomyopathy mutations in the regulatory light chains of myosin affect their structure, Ca2+ binding, and phosphorylation.

PMID 17606808 2007 Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients.

PMID 16076902 2005 The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice.

PMID 12404107 2002 Systematic analysis of the regulatory and essential myosin light chain genes: genetic variants and mutations in hypertrophic cardiomyopathy.

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

PMID 26497160 2016 Hypertrophic remodelling in cardiac regulatory myosin light chain (MYL2) founder mutation carriers.

PMID 10948063 2000 In vivo analysis of an essential myosin light chain mutation linked to familial hypertrophic cardiomyopathy.

PMID 9535554 1998 Identification of two novel mutations in the ventricular regulatory myosin light chain gene (MYL2) associated with familial and classical forms of hypertrophic cardiomyopathy.

PMID 23727233 2013 Diversity and similarity of motor function and cross-bridge kinetics in papillary muscles of transgenic mice carrying myosin regulatory light chain mutations D166V and R58Q.

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

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

PMID 26187847 2015 Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

PMID 20855589 2010 Cardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.

PMID 14594949 2004 Familial hypertrophic cardiomyopathy-linked alterations in Ca2+ binding of human cardiac myosin regulatory light chain affect cardiac muscle contraction.

PMID 18929571 2009 Regulatory light chain mutations associated with cardiomyopathy affect myosin mechanics and kinetics.

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

PMID 21723297 2011 Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin.

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

PMID 23343568 2013 Regulatory light chain mutants linked to heart disease modify the cardiac myosin lever arm.

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

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

rs104893750 in MYL3 gene and Hypertrophic Cardiomyopathy

PMID 21823217 2011 Furthering the link between the sarcomere and primary cardiomyopathies: restrictive cardiomyopathy associated with multiple mutations in genes previously associated with hypertrophic or dilated cardiomyopathy.

PMID 12021217 2002 Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology.

PMID 22131351 2012 Mutations of ventricular essential myosin light chain disturb myosin binding and sarcomeric sorting.

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

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

PMID 25910212 2015 Widespread macromolecular interaction perturbations in human genetic disorders.

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

PMID 26443374 2016 Whole exome sequencing combined with integrated variant annotation prediction identifies a causative myosin essential light chain variant in hypertrophic cardiomyopathy.

PMID 18409188 2008 A DNA resequencing array for pathogenic mutation detection in 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 20031618 2009 Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy.

rs111033560 in PLN;CEP85L gene and Hypertrophic Cardiomyopathy

PMID 17655857 2007 Genetic screening of calcium regulation genes in familial hypertrophic cardiomyopathy.

PMID 21167350 2011 PLN-encoded phospholamban mutation in a large cohort of hypertrophic cardiomyopathy cases: summary of the literature and implications for genetic testing.

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

PMID 16235537 2005 [Association between phospholamban gene mutation and dilated cardiomyopathy in the Chengdu area].

PMID 12639993 2003 Human phospholamban null results in lethal dilated cardiomyopathy revealing a critical difference between mouse and human.

PMID 21332051 2011 Phospholamban gene mutations are not associated with hypertrophic cardiomyopathy in patients from southern Poland.

rs121908987 in PRKAG2 gene and Hypertrophic Cardiomyopathy

PMID 15611370 2005 Transgenic mouse model of ventricular preexcitation and atrioventricular reentrant tachycardia induced by an AMP-activated protein kinase loss-of-function mutation responsible for Wolff-Parkinson-White syndrome.

PMID 17483151 2007 A familial form of conduction defect related to a mutation in the PRKAG2 gene.

PMID 17711718 2007 [Same genotype and different phenotypes in a family with PRKAG2 gene mutation].

PMID 14722619 2004 CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

PMID 11407343 2001 Identification of a gene responsible for familial Wolff-Parkinson-White syndrome.

PMID 20031621 2009 Distinct early signaling events resulting from the expression of the PRKAG2 R302Q mutant of AMPK contribute to increased myocardial glycogen.

PMID 11827995 2002 Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations.

PMID 16836667 2006 Familial pseudo-Wolff-Parkinson-White syndrome.

PMID 23778007 2013 Identification and functional analysis of a novel PRKAG2 mutation responsible for Chinese PRKAG2 cardiac syndrome reveal an important role of non-CBS domains in regulating the AMPK pathway.

PMID 19808419 2008 Nodoventricular accessory pathways in PRKAG2-dependent familial preexcitation syndrome reveal a disorder in cardiac development.

PMID 23829931 2013 Chronic AMPK activity dysregulation produces myocardial insulin resistance in the human Arg302Gln-PRKAG2 glycogen storage disease mouse model.

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

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

PMID 14519435 2003 Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.

PMID 15877279 2005 Thus, recurrent heterozygous R531Q missense mutations in PRKAG2 give rise to a massive nonlysosomal cardiac glycogenosis of fetal symptomatic onset and rapidly fatal course, constituting a genotypically and clinically distinct variant of hypertrophic cardiomyopathy with Wolff-Parkinson-White syndrome.

PMID 16716659 2006 Ventricular pre-excitation and cardiac hypertrophy mimicking hypertrophic cardiomyopathy in a Turkish family with a novel PRKAG2 mutation.

PMID 19787389 2009 Severe hypertrophic cardiomyopathy in an infant with a novel PRKAG2 gene mutation: potential differences between infantile and adult onset presentation.

PMID 20005292 2010 Activation of cardiac hypertrophic signaling pathways in a transgenic mouse with the human PRKAG2 Thr400Asn mutation.

PMID 16487706 2006 A new mutation in PRKAG2 gene causing hypertrophic cardiomyopathy with conduction system disease and muscular glycogenosis.

PMID 17597581 2007 A PRKAG2 mutation causes biphasic changes in myocardial AMPK activity and does not protect against ischemia.

PMID 11827995 2002 Although the cardiac pathology caused by PRKAG2 mutations Arg302Gln, Thr400Asn, and Asn488Ile include myocyte enlargement and minimal interstitial fibrosis, these mutations were not associated with myocyte and myofibrillar disarray, the pathognomonic features of hypertrophic cardiomyopathy caused by sarcomere protein mutations.

PMID 25092788 2014 Transgenic knockdown of cardiac sodium/glucose cotransporter 1 (SGLT1) attenuates PRKAG2 cardiomyopathy, whereas transgenic overexpression of cardiac SGLT1 causes pathologic hypertrophy and dysfunction in mice.

PMID 26729852 2016 Clinical Spectrum of PRKAG2 Syndrome.

PMID 20600102 2010 SGLT1, a novel cardiac glucose transporter, mediates increased glucose uptake in PRKAG2 cardiomyopathy.

rs121918457 in PTPN11 gene and Hypertrophic Cardiomyopathy

PMID 24451042 2014 Diagnosis of Noonan syndrome and related disorders using target next generation sequencing.

PMID 22585553 2012 A rasopathy phenotype with severe congenital hypertrophic obstructive cardiomyopathy associated with a PTPN11 mutation and a novel variant in SOS1.

PMID 23317994 2013 Delayed primary diagnosis of LEOPARD syndrome type 1.

PMID 24037001 2013 Tegumentary manifestations of Noonan and Noonan-related syndromes.

PMID 24775816 2013 LEOPARD syndrome: a variant of Noonan syndrome strongly associated with hypertrophic cardiomyopathy.

PMID 23457302 2013 Structural and mechanistic insights into LEOPARD syndrome-associated SHP2 mutations.

PMID 22681964 2011 PTPN11-associated mutations in the heart: has LEOPARD changed Its RASpots?

PMID 25884655 2015 PTPN11 mutation manifesting as LEOPARD syndrome associated with hypertrophic plexi and neuropathic pain.

PMID 24767283 2014 LEOPARD syndrome: clinical dilemmas in differential diagnosis of RASopathies.

PMID 25917897 2015 Pathogenesis of multiple lentigines in LEOPARD syndrome with PTPN11 gene mutation.

PMID 14961557 2003 A novel PTPN11 mutation in LEOPARD syndrome.

PMID 26337637 2016 Paraspinal neurofibromas and hypertrophic neuropathy in Noonan syndrome with multiple lentigines.

PMID 27484170 2016 Identification of a PTPN11 hot spot mutation in a child with atypical LEOPARD syndrome.

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

PMID 27238887 2016 Multiple giant cell lesions in a patient with Noonan syndrome with multiple lentigines.

PMID 24935154 2014 Molecular basis of gain-of-function LEOPARD syndrome-associated SHP2 mutations.

PMID 22411627 2012 Reactive oxygen species and epidermal growth factor are antagonistic cues controlling SHP-2 dimerization.

PMID 28681392 2017 Noonan syndrome with multiple lentigines with PTPN11 (T468M) gene mutation accompanied with solitary granular cell tumor.

PMID 25544017 2015 LEOPARD syndrome without hearing loss or pulmonary stenosis: a report of 2 cases.

PMID 20493809 2010 Phosphatase-dependent and -independent functions of Shp2 in neural crest cells underlie LEOPARD syndrome pathogenesis.

PMID 19133693 2009 Cognitive profile of disorders associated with dysregulation of the RAS/MAPK signaling cascade.

PMID 21365175 2011 LEOPARD syndrome (PTPN11, T468M) in three boys fulfilling neurofibromatosis type 1 clinical criteria.

PMID 15712196 2005 High incidence of malformation syndromes in a series of 1,073 children with cancer.

PMID 22190897 2011 RASopathies: Clinical Diagnosis in the First Year of Life.

PMID 15121796 2004 Clinical and molecular analysis of 30 patients with multiple lentigines LEOPARD syndrome.

PMID 18849586 2009 Phosphatase-defective LEOPARD syndrome mutations in PTPN11 gene have gain-of-function effects during Drosophila development.

PMID 16358218 2006 Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

PMID 19825837 2010 The Marshall M. Parks memorial lecture: making sense of early-onset childhood retinal dystrophies--the clinical phenotype of Leber congenital amaurosis.

PMID 23813970 2013 Medulloblastoma in a patient with the PTPN11 p.Thr468Met mutation.

PMID 20535210 2010 Patient-specific induced pluripotent stem-cell-derived models of LEOPARD syndrome.

PMID 16377799 2006 PTPN11 (Shp2) mutations in LEOPARD syndrome have dominant negative, not activating, effects.

PMID 18372317 2008 Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

PMID 20883402 2010 Familial cases of atypical clinical features genetically diagnosed as LEOPARD syndrome (multiple lentigines syndrome).

PMID 21910245 2011 Visual processing in Noonan syndrome: dorsal and ventral stream sensitivity.

PMID 17935252 2007 LEOPARD syndrome with partly normal skin and sex chromosome mosaicism.

PMID 20308328 2010 Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling.

PMID 16638574 2006 Reduced phosphatase activity of SHP-2 in LEOPARD syndrome: consequences for PI3K binding on Gab1.

PMID 15520399 2004 PTPN11 mutations in patients with LEOPARD syndrome: a French multicentric experience.

PMID 12058348 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene.

rs80338796 in RAF1 gene and Hypertrophic Cardiomyopathy

PMID 17603482 2007 Germline gain-of-function mutations in RAF1 cause Noonan syndrome.

PMID 17603483 2007 Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

rs12341266 in RGS3 gene and Hypertrophic Cardiomyopathy

PMID 23255317 2013 Formin homology 2 domain containing 3 variants associated with hypertrophic cardiomyopathy.

rs267607125 in TNNC1;NISCH gene and Hypertrophic Cardiomyopathy

PMID 23425245 2013 Effects of calcium binding and the hypertrophic cardiomyopathy A8V mutation on the dynamic equilibrium between closed and open conformations of the regulatory N-domain of isolated cardiac troponin C.

PMID 20459070 2010 Hypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.

PMID 27604170 2016 Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

PMID 19439414 2009 A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.

PMID 18572189 2008 Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C.

PMID 26976709 2016 Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin C.

PMID 28533433 2017 Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca²⁺-sensitizing mutations.

PMID 26304555 2015 In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene.

PMID 21056975 2011 Strong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.

PMID 28473771 2017 Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.

PMID 22489623 2012 Effect of hypertrophic cardiomyopathy-linked troponin C mutations on the response of reconstituted thin filaments to calcium upon troponin I phosphorylation.

rs104894724 in TNNI3 gene and Hypertrophic Cardiomyopathy

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

PMID 10806205 2000 Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy.

PMID 18548271 2008 Expression of cTnI-R145G affects shortening properties of adult rat cardiomyocytes.

PMID 10731705 2000 Effect of Arg145Gly mutation in human cardiac troponin I on the ATPase activity of cardiac myofibrils.

PMID 16531415 2006 Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.

PMID 18430738 2008 These results suggest that the phenotype of hypertrophic cardiomyopathy is most likely caused by the compensatory mechanisms in the cardiovascular system that are activated by 1) higher energy cost in the heart resulting from a significant decrease in average force per cross-bridge, 2) slowed relaxation (diastolic dysfunction) caused by prolonged [Ca(2+)] and force transients, and 3) an inability of the cardiac TnI to completely inhibit activation in the absence of Ca(2+) in Tg-R145G mice.

PMID 11853553 2002 Two mutations in troponin I that cause hypertrophic cardiomyopathy have contrasting effects on cardiac muscle contractility.

PMID 14575308 2003 Calpain-1-dependent degradation of troponin I mutants found in familial hypertrophic cardiomyopathy.

PMID 16288990 2005 Drastic Ca2+ sensitization of myofilament associated with a small structural change in troponin I in inherited restrictive cardiomyopathy.

PMID 12746413 2003 Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.

PMID 15718266 2005 Effects of the mutation R145G in human cardiac troponin I on the kinetics of the contraction-relaxation cycle in isolated cardiac myofibrils.

PMID 15992656 2005 Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.

PMID 17599605 2007 Prevalence, clinical significance, and genetic basis of hypertrophic cardiomyopathy with restrictive phenotype.

PMID 17932326 2007 Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.

PMID 11724573 2001 Effects of phosphorylation and mutation R145G on human cardiac troponin I function.

PMID 16020591 2005 Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.

PMID 15961398 2005 To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.

PMID 16274223 2005 The role of electrostatics in the interaction of the inhibitory region of troponin I with troponin C.

PMID 15607392 2004 Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

PMID 11801593 2002 Functional analysis of a troponin I (R145G) mutation associated with familial hypertrophic cardiomyopathy.

PMID 19651143 2009 Functional effects of a restrictive-cardiomyopathy-linked cardiac troponin I mutation (R145W) in transgenic mice.

PMID 12044157 2002 Effects of T142 phosphorylation and mutation R145G on the interaction of the inhibitory region of human cardiac troponin I with the C-domain of human cardiac troponin C.

PMID 21533915 2011 Recurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.

PMID 18269819 2007 Reduced peak current of L-type Ca(2+) channel in cells transduced with cTnI R146W might contribute to the disease-causing mechanism of this mutation in patients with hypertrophic cardiomyopathy.

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

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

PMID 19035361 2009 Diagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relatives.

PMID 27557662 2016 Restrictive Cardiomyopathy Troponin I R145W Mutation Does Not Perturb Myofilament Length-dependent Activation in Human Cardiac Sarcomeres.

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

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

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

PMID 22675533 2012 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

PMID 23906401 2013 [Clinical characteristics and genetic analysis of three pediatric patients with idiopathic restrictive cardiomyopathy].

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

PMID 19449150 2009 Genetic and clinical profile of Indian patients of idiopathic restrictive cardiomyopathy with and without hypertrophy.

PMID 20161772 2010 Combinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in disease.

PMID 17463320 2007 Thin filament disinhibition by restrictive cardiomyopathy mutant R193H troponin I induces Ca2+-independent mechanical tone and acute myocyte remodeling.

PMID 15961398 2005 To determine whether five mutations in cTnI (L144Q, R145W, A171T, K178E, and R192H) associated with restrictive cardiomyopathy were distinguishable from hypertrophic cardiomyopathy-causing mutations in cTnI, actomyosin ATPase activity and skinned fiber studies were carried out.

PMID 17027633 2006 A point mutation (R192H) in the C-terminus of human cardiac troponin I causes diastolic dysfunction in transgenic mice.

PMID 18408133 2008 Impaired relaxation is the main manifestation in transgenic mice expressing a restrictive cardiomyopathy mutation, R193H, in cardiac TnI.

PMID 12531876 2003 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

PMID 19289050 2009 Some cardiomyopathy-causing troponin I mutations stabilize a functional intermediate actin state.

PMID 11735257 2001 Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy.

PMID 21799269 2011 Genetic screening and double mutation in Japanese patients with hypertrophic cardiomyopathy.

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

PMID 23270746 2013 Homozygous mutation in the cardiac troponin I gene: clinical heterogeneity in hypertrophic cardiomyopathy.

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

PMID 15070570 2004 Novel mutation in cardiac troponin I in recessive idiopathic dilated cardiomyopathy.

PMID 22429680 2012 High resolution melting: improvements in the genetic diagnosis of hypertrophic cardiomyopathy in a Portuguese cohort.

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

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

PMID 19645627 2009 Low prevalence and variable clinical presentation of troponin I and troponin T gene mutations in hypertrophic cardiomyopathy.

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

PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

PMID 22876777 2012 High prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.

PMID 23967088 2013 An in silico analysis of troponin I mutations in hypertrophic cardiomyopathy of Indian origin.

PMID 3144325 1988 Orthotic services: a need for change.

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

PMID 16352453 2006 Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin.

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

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

PMID 25940119 2016 Diagnostic disparity and identification of two TNNI3 gene mutations, one novel and one arising de novo, in South African patients with restrictive cardiomyopathy and focal ventricular hypertrophy.

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

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

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

PMID 15698845 2005 Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

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

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

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

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

PMID 22301726 2012 Hypertrophic cardiomyopathy and planned in vitro fertilization. Genetic testing and clinical evaluation.

PMID 23540544 2013 Dramatically different phenotypic expressions of hypertrophic cardiomyopathy in male cousins undergoing cardiac transplantation with identical disease-causing gene mutation.

PMID 26169204 2016 Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population.

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

PMID 18801787 2008 Pure restrictive cardiomyopathy associated with cardiac troponin I gene mutation: mismatch between the lack of hypertrophy and the presence of disarray.

PMID 20569525 2010 Ventricular septal defect and restrictive cardiomyopathy in a paediatric TNNI3 mutation carrier.

PMID 20617149 2010 Cardiac troponin mutations and restrictive cardiomyopathy.

rs111377893 in TNNT2 gene and Hypertrophic Cardiomyopathy

PMID 10617660 2000 Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy.

PMID 7898523 1995 Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy.

PMID 21245263 2011 Human cardiomyopathy mutations induce myocyte hyperplasia and activate hypertrophic pathways during cardiogenesis in zebrafish.

PMID 10529204 1999 Altered regulatory function of two familial hypertrophic cardiomyopathy troponin T mutants.

PMID 15568820 2004 The Delta 14 mutation of human cardiac troponin T enhances ATPase activity and alters the cooperative binding of S1-ADP to regulated actin.

PMID 9637714 1998 A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy.

PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 8958207 1996 Expression and functional assessment of a truncated cardiac troponin T that causes hypertrophic cardiomyopathy. Evidence for a dominant negative action.

PMID 11560853 2001 Hypertrophic cardiomyopathy: histopathological features of sudden death in cardiac troponin T disease.

PMID 10085122 1999 Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy.

PMID 11606294 2001 Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region.

PMID 11060294 2001 Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation.

PMID 18651846 2008 Cardiac troponin T mutation in familial cardiomyopathy with variable remodeling and restrictive physiology.

PMID 11113119 2001 Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

PMID 26507537 2016 Clinical and Prognostic Profiles of Cardiomyopathies Caused by Mutations in the Troponin T Gene.

PMID 9201030 1997 Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility.

PMID 19087273 2008 Late gadolinium enhancement cardiovascular magnetic resonance in genotyped hypertrophic cardiomyopathy with normal phenotype.

PMID 24691700 2015 A low prevalence of sarcomeric gene variants in a Chinese cohort with left ventricular non-compaction.

PMID 19487599 2009 IMAGE CARDIO MED: Inducible malignant ventricular tachyarrhythmia in a patient with genotyped hypertrophic cardiomyopathy in absence of left ventricular hypertrophy or enlargement.

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

PMID 22675533 2012 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

PMID 28735292 2017 Pathogenesis of Hypertrophic Cardiomyopathy is Mutation Rather Than Disease Specific: A Comparison of the Cardiac Troponin T E163R and R92Q Mouse Models.

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.

PMID 11158969 2001 Ca(2+) activation of myofilaments from transgenic mouse hearts expressing R92Q mutant cardiac troponin T.

PMID 12186860 2002 Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy.

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

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

PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

PMID 18029407 2008 Troponin T and beta-myosin mutations have distinct cardiac functional effects in hypertrophic cardiomyopathy patients without hypertrophy.

PMID 11968089 2002 Low-density DNA microarrays are versatile tools to screen for known mutations in hypertrophic cardiomyopathy.

PMID 17612745 2008 Long-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progression.

PMID 14722098 2004 Familial hypertrophic cardiomyopathy mutations from different functional regions of troponin T result in different effects on the pH and Ca2+ sensitivity of cardiac muscle contraction.

PMID 16326803 2005 Changes in the chemical and dynamic properties of cardiac troponin T cause discrete cardiomyopathies in transgenic mice.

PMID 12084606 2002 Prevalence and age-dependence of malignant mutations in the beta-myosin heavy chain and troponin T genes in hypertrophic cardiomyopathy: a comprehensive outpatient perspective.

PMID 14640471 2003 Autopsy findings in siblings with hypertrophic cardiomyopathy caused by Arg92Trp mutation in the cardiac troponin T gene showing dilated cardiomyopathy-like features.

PMID 16115294 2005 Phenotypic differences between electrocardiographic and echocardiographic determination of hypertrophic cardiomyopathy in genetically affected subjects.

PMID 22321274 2011 [Novel mutations of cardiac troponin T in Chinese patients with hypertrophic cardiomyopathy].

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

PMID 8951566 1996 Clinical manifestations of hypertrophic cardiomyopathy with mutations in the cardiac beta-myosin heavy chain gene or cardiac troponin T gene.

PMID 10521296 1999 The origins of hypertrophic cardiomyopathy-causing mutations in two South African subpopulations: a unique profile of both independent and founder events.

PMID 22334656 2012 Correlation of molecular and functional effects of mutations in cardiac troponin T linked to familial hypertrophic cardiomyopathy: an integrative in silico/in vitro approach.

PMID 23494605 2013 Mutations in the cardiac troponin T gene show various prognoses in Japanese patients with hypertrophic cardiomyopathy.

PMID 11346248 2001 Cardiac troponin T Arg92Trp mutation and progression from hypertrophic to dilated cardiomyopathy.

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 22579624 2012 Molecular effects of familial hypertrophic cardiomyopathy-related mutations in the TNT1 domain of cTnT.

PMID 19880069 2009 Abnormal blood pressure response to exercise occurs more frequently in hypertrophic cardiomyopathy patients with the R92W troponin T mutation than in those with myosin mutations.

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

PMID 10525521 1999 A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

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

PMID 14654368 2003 In contrast, a missense mutation R94L in the vicinity of the strong tropomyosin-binding region associated with hypertrophic cardiomyopathy (HCM) resulted in an increase in the Ca(2+) sensitivity of force generation, as in the case of the other HCM-causing mutations in cTnT reported previously.

PMID 28073646 2017 Hypertrophic Cardiomyopathy Without Ventricular Hypertrophy: Usefulness of Genetic and Pathological Study in Preventing Sudden Death.

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

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

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

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

PMID 15631686 2004 Inherited cardiomyopathies as a troponin disease.

PMID 19914256 2010 Mutations in Troponin that cause HCM, DCM AND RCM: what can we learn about thin filament function?

PMID 14636924 2003 Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany.

PMID 28973951 2017 Molecular mechanisms and structural features of cardiomyopathy-causing troponin T mutants in the tropomyosin overlap region.

PMID 17456375 2007 [Family hypertrophic cardiomyopathy caused by a 14035c > t mutation in cardiac troponin T gene].

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

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

PMID 26914223 2016 Evaluation of the Mayo Clinic Phenotype-Based Genotype Predictor Score in Patients with Clinically Diagnosed 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 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

PMID 16538283 2006 Hypertrophic cardiomyopathy--molecular genetic analysis of exons 9 and 11 of the TNNT2 gene in Czech patients.

PMID 12746413 2003 Comparison of fluorescent SSCP and denaturing HPLC analysis with direct sequencing for mutation screening in hypertrophic cardiomyopathy.

PMID 10731693 2000 Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T.

PMID 11034944 2000 Homozygous mutation in cardiac troponin T: implications for hypertrophic cardiomyopathy.

PMID 12473556 2002 Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).

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

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

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

PMID 15923195 2005 Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.

PMID 12923187 2003 Different functional properties of troponin T mutants that cause dilated cardiomyopathy.

PMID 15769782 2005 Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene.

PMID 14654368 2003 Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization.

PMID 11684629 2001 Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy.

PMID 24367593 2013 Effects of troponin T cardiomyopathy mutations on the calcium sensitivity of the regulated thin filament and the actomyosin cross-bridge kinetics of human β-cardiac myosin.

PMID 15623536 2005 Characterization of troponin T dilated cardiomyopathy mutations in the fetal troponin isoform.

PMID 23539503 2013 Familial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivity.

PMID 17932326 2007 Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments.

PMID 18506004 2008 Mutations in sarcomere protein genes in left ventricular noncompaction.

PMID 19253838 2008 [Association of TNNT2 gene mutations with idiopathic dilated cardiomyopathy in a Chengdu population].

rs104894503 in TPM1 gene and Hypertrophic Cardiomyopathy

PMID 21295541 2011 Several cardiomyopathy causing mutations on tropomyosin either destabilize the active state of actomyosin or alter the binding properties of tropomyosin.

PMID 21376702 2011 Hypertrophic cardiomyopathy-causing Asp175asn and Glu180gly Tpm1 mutations shift tropomyosin strands further towards the open position during the ATPase cycle.

PMID 22794249 2012 Long-range effects of familial hypertrophic cardiomyopathy mutations E180G and D175N on the properties of tropomyosin.

PMID 21320446 2011 Enhanced active cross-bridges during diastole: molecular pathogenesis of tropomyosin's HCM mutations.

PMID 9060904 1997 In contrast, prognosis reflected genotype; near normal life expectancy is found in hypertrophic cardiomyopathy caused by the alpha-tropomyosin mutation Asp175Asn.

PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

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 7729014 1995 A de novo mutation in alpha-tropomyosin that causes hypertrophic cardiomyopathy.

PMID 22187526 2011 Facilitated cross-bridge interactions with thin filaments by familial hypertrophic cardiomyopathy mutations in α-tropomyosin.

PMID 22789852 2012 The flexibility of two tropomyosin mutants, D175N and E180G, that cause hypertrophic cardiomyopathy.

PMID 22155441 2012 The effect of the Asp175Asn and Glu180Gly TPM1 mutations on actin-myosin interaction during the ATPase cycle.

PMID 8523464 1995 Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy.

PMID 10400910 1999 Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction.

PMID 14734051 2004 Inducibility of life-threatening ventricular arrhythmias is related to maximum left ventricular thickness and clinical markers of sudden cardiac death in patients with hypertrophic cardiomyopathy attributable to the Asp175Asn mutation in the alpha-tropomyosin gene.

PMID 12473556 2002 Genotype-phenotype correlative studies have implicated 8 particular mutations that cause hypertrophic cardiomyopathy (HCM) as "benign defects," associated with near-normal survival: N232S, G256E, F513C, V606M, R719Q, and L908V of beta-myosin heavy chain (MYH7); S179F of troponin T (TNNT2); and D175N of alpha-tropomyosin (TPM1).

PMID 16014439 2005 Cine MR imaging of myocardial contractile impairment in patients with hypertrophic cardiomyopathy attributable to Asp175Asn mutation in the alpha-tropomyosin gene.

PMID 9440709 1998 A mutant tropomyosin that causes hypertrophic cardiomyopathy is expressed in vivo and associated with an increased calcium sensitivity.

PMID 16504640 2006 Diastolic dysfunction without left ventricular hypertrophy is an early finding in children with hypertrophic cardiomyopathy-causing mutations in the beta-myosin heavy chain, alpha-tropomyosin, and myosin-binding protein C genes.

PMID 11136687 2001 Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis.

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

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

PMID 25241052 2014 Energy landscapes reveal the myopathic effects of tropomyosin mutations.

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

PMID 26960954 2016 Next Generation Sequencing and Linkage Analysis for the Molecular Diagnosis of a Novel Overlapping Syndrome Characterized by Hypertrophic Cardiomyopathy and Typical Electrical Instability of Brugada Syndrome.

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

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

PMID 16365313 2005 Structure of the mid-region of tropomyosin: bending and binding sites for actin.

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

PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

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

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

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

PMID 15249230 2004 Expression of a novel cardiac-specific tropomyosin isoform in humans.

PMID 21642532 2011 Evolutionarily conserved surface residues constitute actin binding sites of tropomyosin.