Condition: CARDIOMYOPATHY, DILATED, 1D (disorder)


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.