Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
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Chamber Specific Gene Expression Landscape of the Zebrafish HeartDiagnostic yield, interpretation, and clinical utility of mutation screening of sarcomere encoding genes in Danish hypertrophic cardiomyopathy patients and relativesThin filament mutations: developing an integrative approach to a complex disorderA novel phosphorylation site, Serine 199, in the C-terminus of cardiac troponin I regulates calcium sensitivity and susceptibility to calpain-induced proteolysisDiastolic dysfunction and thin filament dysregulation resulting from excitation-contraction uncoupling in a mouse model of restrictive cardiomyopathy.Cloning of a newly identified heart-specific troponin I isoform, which lacks the troponin T binding portion, using the yeast hybrid system.Cardiomyopathies with Mixed and Inapparent Morphological Features in Cardiac Troponin I3 Mutation.Hypertrophic cardiomyopathy: from genetics to treatmentHigh prevalence of Arginine to Glutamine substitution at 98, 141 and 162 positions in Troponin I (TNNI3) associated with hypertrophic cardiomyopathy among Indians.Cardiac troponin I Pro82Ser variant induces diastolic dysfunction, blunts β-adrenergic response, and impairs myofilament cooperativityRecurrent and founder mutations in the Netherlands: cardiac Troponin I (TNNI3) gene mutations as a cause of severe forms of hypertrophic and restrictive cardiomyopathy.Diagnosis of apical hypertrophic cardiomyopathy: T-wave inversion and relative but not absolute apical left ventricular hypertrophy.Myocardial late gadolinium enhancement cardiovascular magnetic resonance in hypertrophic cardiomyopathy caused by mutations in troponin I.Targeted Next-Generation Sequencing Reveals Hot Spots and Doubly Heterozygous Mutations in Chinese Patients with Familial CardiomyopathyMolecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease.Significance of troponin dynamics for Ca2+-mediated regulation of contraction and inherited cardiomyopathy.Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID populationAllele and species dependent contractile defects by restrictive and hypertrophic cardiomyopathy-linked troponin I mutantsGenetic determinants of cardiac hypertrophy.Effects of Cardiac Troponin I Mutation P83S on Contractile Properties and the Modulation by PKA-Mediated Phosphorylation.Contemporary treatment of hypertrophic cardiomyopathyGenetic biomarkers in hypertrophic cardiomyopathy.Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.Pharmacological treatment of hypertrophic cardiomyopathy: current practice and novel perspectives.Hypertrophic cardiomyopathy and planned in vitro fertilization. Genetic testing and clinical evaluation.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.Mechanisms of pro-arrhythmic abnormalities in ventricular repolarisation and anti-arrhythmic therapies in human hypertrophic cardiomyopathy.Genetic variations of β-MYH7 in hypertrophic cardiomyopathy and dilated cardiomyopathy.The L-type Ca(2+) channel facilitates abnormal metabolic activity in the cTnI-G203S mouse model of hypertrophic cardiomyopathy.Inherited arrhythmias in children.The continuing evolution of cardiac troponin I biomarker analysis: from protein to proteoform.Diagnostic work-up in cardiomyopathies: bridging the gap between clinical phenotypes and final diagnosis. A position statement from the ESC Working Group on Myocardial and Pericardial Diseases.
P2860
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P2860
Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy.
description
2004 nî lūn-bûn
@nan
2004年の論文
@ja
2004年論文
@yue
2004年論文
@zh-hant
2004年論文
@zh-hk
2004年論文
@zh-mo
2004年論文
@zh-tw
2004年论文
@wuu
2004年论文
@zh
2004年论文
@zh-cn
name
Frequency and clinical express ...... h hypertrophic cardiomyopathy.
@en
type
label
Frequency and clinical express ...... h hypertrophic cardiomyopathy.
@en
prefLabel
Frequency and clinical express ...... h hypertrophic cardiomyopathy.
@en
P2093
P1476
Frequency and clinical express ...... th hypertrophic cardiomyopathy
@en
P2093
Ib C Klausen
James C Moon
Perry M Elliott
Ross T Murphy
William J McKenna
P304
P356
10.1016/J.JACC.2004.05.088
P407
P577
2004-12-01T00:00:00Z