Gene: TNNI3

Alternate names for this Gene: CMD1FF|CMD2A|CMH7|RCM1|TNNC1|cTnI

Gene Summary: Troponin I (TnI), along with troponin T (TnT) and troponin C (TnC), is one of 3 subunits that form the troponin complex of the thin filaments of striated muscle. TnI is the inhibitory subunit; blocking actin-myosin interactions and thereby mediating striated muscle relaxation. The TnI subfamily contains three genes: TnI-skeletal-fast-twitch, TnI-skeletal-slow-twitch, and TnI-cardiac. This gene encodes the TnI-cardiac protein and is exclusively expressed in cardiac muscle tissues. Mutations in this gene cause familial hypertrophic cardiomyopathy type 7 (CMH7) and familial restrictive cardiomyopathy (RCM). Troponin I is useful in making a diagnosis of heart failure, and of ischemic heart disease. An elevated level of troponin is also now used as indicator of acute myocardial injury in patients hospitalized with moderate/severe Coronavirus Disease 2019 (COVID-19). Such elevation has also been associated with higher risk of mortality in cardiovascular disease patients hospitalized with COVID-19.

Gene is located in Chromosome: 19

Location in Chromosome : 19q13.42

Description of this Gene: troponin I3, cardiac type

Type of Gene: protein-coding

rs397516354 in TNNI3 gene and CARDIOMYOPATHY, DILATED, 2A (disorder) PMID 15698845 2005 Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

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

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

rs104894724 in TNNI3 gene and CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 7 PMID 12707239 2003 Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

rs104894724 in TNNI3 gene and CARDIOMYOPATHY, FAMILIAL RESTRICTIVE, 1 (disorder) PMID 12531876 2003 Idiopathic restrictive cardiomyopathy is part of the clinical expression of cardiac troponin I mutations.

PMID 21511876 2011 Sarcomere protein gene mutations in patients with apical 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 15698845 2005 Cardiac troponin I mutations in Australian families with hypertrophic cardiomyopathy: clinical, genetic and functional consequences.

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

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

rs397516355 in TNNI3 gene and Cardiomyopathy, Dilated PMID 24503780 2014 The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.

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

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

rs267607129 in TNNI3 gene and Cardiomyopathy, Dilated, 1FF PMID 21846512 2012 Clinical and mutational spectrum in a cohort of 105 unrelated patients with dilated cardiomyopathy.

PMID 19590045 2009 Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy.

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

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

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

rs104894724 in TNNI3 gene and Cardiomyopathy, Hypertrophic, Familial PMID 15607392 2004 Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.

PMID 11735257 2001 Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI.

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

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

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

PMID 18423659 2008 Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants.

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

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

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

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

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

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

PMID 24111713 2014 Genetics of hypertrophic cardiomyopathy in Norway.

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

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

PMID 11735257 2001 Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI.

PMID 10806205 2000 Altered regulatory properties of human cardiac troponin I mutants that cause 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 15992656 2005 Frequency of cardiac troponin I mutations in families with hypertrophic cardiomyopathy in China.

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

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

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

PMID 26440512 2015 A Systematic Review of Phenotypic Features Associated With Cardiac Troponin I Mutations in Hereditary Cardiomyopathies.

PMID 23610579 2013 Inherited cardiomyopathies caused by troponin mutations.

PMID 11735257 2001 Functional consequences of the six mutations (R145G, R145Q, R162W, DeltaK183, G203S, K206Q) in cardiac troponin I (cTnI) that cause familial hypertrophic cardiomyopathy (HCM) were studied using purified recombinant human cTnI.

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

PMID 18402758 2008 Miniature ponies: 2. Endocrinology of the oestrous cycle.

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

PMID 26506446 2016 A Double Heterozygous Mutation of TNNI3 Causes Hypertrophic Cardiomyopathy in a Han Chinese Family.

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

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

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

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

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

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

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

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

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

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 21777381 2011 Calcium-regulated conformational change in the C-terminal end segment of troponin I and its binding to tropomyosin.

PMID 20035081 2010 The C terminus of cardiac troponin I stabilizes the Ca2+-activated state of tropomyosin on actin filaments.

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

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

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

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

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

rs3729709 in TNNI3 gene and Fasting blood glucose measurement PMID 19060907 2009 Variants in MTNR1B influence fasting glucose levels.

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.

rs104894729 in TNNI3 gene and Restrictive cardiomyopathy 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 22675533 2012 Disease-related cardiac troponins alter thin filament Ca2+ association and dissociation rates.

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

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

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

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

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

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

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

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

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

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

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

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