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 18423659 2008 Allele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutants.
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.
rs104894729 in
TNNI3 gene and
Hypertrophic Cardiomyopathy
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 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 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 16531415 2006 Increased Ca2+ affinity of cardiac thin filaments reconstituted with cardiomyopathy-related mutant cardiac troponin I.
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.
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.