Gene: TNNT2

Alternate names for this Gene: CMD1D|CMH2|CMPD2|LVNC6|RCM3|TnTC|cTnT

Gene Summary: The protein encoded by this gene is the tropomyosin-binding subunit of the troponin complex, which is located on the thin filament of striated muscles and regulates muscle contraction in response to alterations in intracellular calcium ion concentration. Mutations in this gene have been associated with familial hypertrophic cardiomyopathy as well as with dilated cardiomyopathy. Transcripts for this gene undergo alternative splicing that results in many tissue-specific isoforms, however, the full-length nature of some of these variants has not yet been determined.

Gene is located in Chromosome: 1

Location in Chromosome : 1q32.1

Description of this Gene: troponin T2, cardiac type

Type of Gene: protein-coding

rs121964855 in TNNT2 gene and CARDIOMYOPATHY, DILATED, 1D (disorder) PMID 23663841 2013 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

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

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

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 21683708 2011 Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

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

PMID 11060291 2001 Characterization of the two eIF4A-binding sites on human eIF4G-1.

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

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

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

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

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

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

PMID 10449439 1999 Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.

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

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

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

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

PMID 22144547 2012 Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.

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

PMID 9788962 1998 Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice.

PMID 9060892 1997 Sudden death due to troponin T mutations.

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

PMID 26498512 2015 Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

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

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

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

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

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

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 15542288 2004 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

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

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

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

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

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

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

PMID 2003160 1991 The chromosome, its anatomy, and its aberrations.

PMID 10978365 2000 Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy.

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

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

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

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

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

PMID 23494605 2013 Mutations in the cardiac troponin T gene show various prognoses in Japanese 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 15563892 2005 Mutations profile in Chinese patients with hypertrophic cardiomyopathy.

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

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

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

PMID 24792744 2014 Hypertrophic cardiomyopathy: one gene … but many phenotypes.

PMID 27036851 2016 Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.

PMID 24480310 2014 Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.

PMID 24205113 2013 Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

PMID 19324435 2010 Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

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 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

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

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

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

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

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

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

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

PMID 20978592 2010 Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

PMID 23383212 2013 Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.

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

PMID 20079745 2010 Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.

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 11773635 2002 Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 22517884 2012 Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

PMID 9140840 1997 Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

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

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

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

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

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

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

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

PMID 18349139 2008 Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.

PMID 24992688 2014 A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

PMID 18606313 2008 The changes of the cardiac structure and function in cTnTR141W transgenic mice.

PMID 26656454 2015 Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

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

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

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

rs121964855 in TNNT2 gene and CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 3 (disorder) PMID 11113119 2001 Inotropic stimulation induces cardiac dysfunction in transgenic mice expressing a troponin T (I79N) mutation linked to familial hypertrophic cardiomyopathy.

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

PMID 21683708 2011 Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

PMID 23663841 2013 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

PMID 11060291 2001 Characterization of the two eIF4A-binding sites on human eIF4G-1.

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

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

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

PMID 10449439 1999 Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.

PMID 9788962 1998 Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice.

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

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

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

PMID 22144547 2012 Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.

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

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

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

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

PMID 9060892 1997 Sudden death due to troponin T mutations.

PMID 26498512 2015 Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

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

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

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

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

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

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

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 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 2003160 1991 The chromosome, its anatomy, and its aberrations.

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

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

PMID 10978365 2000 Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy.

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

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

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 23494605 2013 Mutations in the cardiac troponin T gene show various prognoses in Japanese 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 10731693 2000 Functional consequences of the deletion mutation deltaGlu160 in human cardiac troponin T.

PMID 27036851 2016 Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.

PMID 24792744 2014 Hypertrophic cardiomyopathy: one gene … but many phenotypes.

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

PMID 24480310 2014 Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.

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

PMID 24205113 2013 Whole exome sequencing identifies a troponin T mutation hot spot in 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 19324435 2010 Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

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

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

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

PMID 20978592 2010 Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

PMID 11773635 2002 Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

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 23383212 2013 Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.

PMID 20079745 2010 Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.

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

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

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

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 22517884 2012 Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

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

PMID 9140840 1997 Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

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

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

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

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

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

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

PMID 18606313 2008 The changes of the cardiac structure and function in cTnTR141W transgenic mice.

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 24992688 2014 A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

PMID 26656454 2015 Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

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

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

PMID 18349139 2008 Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.

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

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

PMID 15542288 2004 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

rs12564445 in TNNT2 gene and Cardiac troponin T measurement PMID 23247143 2013 Association of genome-wide variation with highly sensitive cardiac troponin-T levels in European Americans and Blacks: a meta-analysis from atherosclerosis risk in communities and cardiovascular health studies.

rs397516464 in TNNT2 gene and Cardiomyopathy, Dilated PMID 15923195 2005 Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype.

PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

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

PMID 15542288 2004 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

PMID 19324435 2010 Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

PMID 28669108 2017 Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.

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

PMID 29367539 2017 Multiple Species Comparison of Cardiac Troponin T and Dystrophin: Unravelling the DNA behind Dilated Cardiomyopathy.

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

PMID 19412328 2008 Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy.

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

PMID 11862580 2002 Cardiac troponin T lysine 210 deletion in a family with dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 20079745 2010 Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.

PMID 20978592 2010 Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

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

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

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

PMID 23383212 2013 Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.

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

PMID 11773635 2002 Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

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

PMID 18612386 2008 The role of cardiac troponin T quantity and function in cardiac development and dilated cardiomyopathy.

PMID 27153395 2016 Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.

PMID 24992688 2014 A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

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

PMID 22517884 2012 Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with 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 24205113 2013 Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

PMID 15464434 2005 Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity.

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

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

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

rs397516484 in TNNT2 gene and Cardiomyopathy, Familial Hypertrophic, 1 (disorder) PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

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

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

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

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

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

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

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

rs121964855 in TNNT2 gene and Cardiomyopathy, Familial Hypertrophic, 2 PMID 8205619 1994 Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere.

PMID 9060892 1997 Sudden death due to troponin T mutations.

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

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

PMID 9482583 1998 A rapid protocol for cardiac troponin T gene mutation detection in familial hypertrophic cardiomyopathy.

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

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

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

PMID 11060291 2001 Characterization of the two eIF4A-binding sites on human eIF4G-1.

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

PMID 9140840 1997 Novel missense mutation in cardiac troponin T gene found in Japanese patient with hypertrophic cardiomyopathy.

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

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

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

PMID 23663841 2013 Analysis of the molecular pathogenesis of cardiomyopathy-causing cTnT mutants I79N, ΔE96, and ΔK210.

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

PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 21683708 2011 Myosin cross-bridges do not form precise rigor bonds in hypertrophic heart muscle carrying troponin T mutations.

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 8989109 1996 Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy.

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

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

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

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

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

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

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

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

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

PMID 22144547 2012 Long-term outcomes in hypertrophic cardiomyopathy caused by mutations in the cardiac troponin T gene.

PMID 10449439 1999 Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy.

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

PMID 9788962 1998 Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice.

PMID 26498512 2015 Establishing disease causality for a novel gene variant in familial dilated cardiomyopathy using a functional in-vitro assay of regulated thin filaments and human cardiac myosin.

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

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

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

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

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

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

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

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

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 2003160 1991 The chromosome, its anatomy, and its aberrations.

PMID 10978365 2000 Cytosine methylation confers instability on the cardiac troponin T gene in hypertrophic cardiomyopathy.

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

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

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

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

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

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

PMID 24792744 2014 Hypertrophic cardiomyopathy: one gene … but many phenotypes.

PMID 27036851 2016 Mutations in troponin T associated with Hypertrophic Cardiomyopathy increase Ca(2+)-sensitivity and suppress the modulation of Ca(2+)-sensitivity by troponin I phosphorylation.

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

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

PMID 24480310 2014 Allosteric effects of cardiac troponin TNT1 mutations on actomyosin binding: a novel pathogenic mechanism for hypertrophic cardiomyopathy.

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

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 24205113 2013 Whole exome sequencing identifies a troponin T mutation hot spot in familial dilated cardiomyopathy.

PMID 19324435 2010 Dilated cardiomyopathy caused by a novel TNNT2 mutation-added value of genetic testing in the correct identification of affected subjects.

PMID 15958377 2005 Low prevalence of cardiac troponin T mutations in a Greek hypertrophic cardiomyopathy cohort.

PMID 20057144 2010 Defective dynamic properties of human cardiac troponin mutations.

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

PMID 23383212 2013 Usefulness of running wheel for detection of congestive heart failure in dilated cardiomyopathy mouse model.

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

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

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 20079745 2010 Cardiomyopathy-causing deletion K210 in cardiac troponin T alters phosphorylation propensity of sarcomeric proteins.

PMID 20978592 2010 Recurrent and founder mutations in the Netherlands: mutation p.K217del in troponin T2, causing dilated cardiomyopathy.

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

PMID 11773635 2002 Ca(2+)-desensitizing effect of a deletion mutation Delta K210 in cardiac troponin T that causes familial dilated cardiomyopathy.

PMID 11106718 2000 Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy.

PMID 20031601 2009 Clinical and functional characterization of TNNT2 mutations identified in patients with dilated cardiomyopathy.

PMID 23349452 2013 Genetic analysis in 418 index patients with idiopathic dilated cardiomyopathy: overview of 10 years' experience.

PMID 22517884 2012 Patient-specific induced pluripotent stem cells as a model for familial dilated cardiomyopathy.

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

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

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

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 26656454 2015 Exome Sequencing Identifies Pathogenic and Modifier Mutations in a Child With Sporadic Dilated Cardiomyopathy.

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

PMID 18606313 2008 The changes of the cardiac structure and function in cTnTR141W transgenic mice.

PMID 18349139 2008 Differential interactions of thin filament proteins in two cardiac troponin T mouse models of hypertrophic and dilated cardiomyopathies.

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

PMID 24992688 2014 A novel arginine to tryptophan (R144W) mutation in troponin T (cTnT) gene in an indian multigenerational family with dilated cardiomyopathy (FDCM).

PMID 15542288 2004 Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy.

PMID 24119082 2013 Poor prognosis of rare sarcomeric gene variants in patients with dilated cardiomyopathy.

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

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

rs397516456 in TNNT2 gene and Cardiomyopathy, Hypertrophic, Familial PMID 12860912 2003 Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy.

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

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

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

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].

rs727503513 in TNNT2 gene and Restrictive cardiomyopathy PMID 10525521 1999 A new mutation of the cardiac troponin T gene causing familial hypertrophic cardiomyopathy without left ventricular hypertrophy.

rs6663175 in TNNT2 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.