Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C
about
Gene regulation, alternative splicing, and posttranslational modification of troponin subunits in cardiac development and adaptation: a focused reviewStructure of trans -Resveratrol in Complex with the Cardiac Regulatory Protein Troponin CCardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy PhenotypeTargeting the sarcomere to correct muscle functionA mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillationCoding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathyThin filament mutations: developing an integrative approach to a complex disorderStructure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugsAllosteric Transmission along a Loosely Structured Backbone Allows a Cardiac Troponin C Mutant to Function with Only One Ca2+ Ion.Pathogenic peptide deviations support a model of adaptive evolution of chordate cardiac performance by troponin mutations.Hypertrophic Cardiomyopathy Cardiac Troponin C Mutations Differentially Affect Slow Skeletal and Cardiac Muscle Regulation.Amide hydrogens reveal a temperature-dependent structural transition that enhances site-II Ca2+-binding affinity in a C-domain mutant of cardiac troponin CRescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes.Coupling of adjacent tropomyosins enhances cross-bridge-mediated cooperative activation in a markov model of the cardiac thin filament.Genetics of hypertrophic cardiomyopathy.Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death.Calcium binding kinetics of troponin C strongly modulate cooperative activation and tension kinetics in cardiac muscleStrong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.Troponin T is essential for sarcomere assembly in zebrafish skeletal muscle.Functional characterization of TNNC1 rare variants identified in dilated cardiomyopathy.Trbp regulates heart function through microRNA-mediated Sox6 repression.Fluorescent Protein-Based Ca2+ Sensor Reveals Global, Divalent Cation-Dependent Conformational Changes in Cardiac Troponin CIn Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility GeneCardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics.Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin CHypertrophic obstructive cardiomyopathy in rheumatoid arthtritis - coincidence or association? A case report.A functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it allInsights and Challenges of Multi-Scale Modeling of Sarcomere Mechanics in cTn and Tm DCM Mutants-Genotype to Cellular Phenotype.Novel junctophilin-2 mutation A405S is associated with basal septal hypertrophy and diastolic dysfunction.Inherited cardiomyopathies caused by troponin mutations.Genetic biomarkers in hypertrophic cardiomyopathy.Nuclear tropomyosin and troponin in striated muscle: new roles in a new locale?Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.Pharmacogenetics of cardiac inotropy.Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.Calcium Signaling and Cardiac Arrhythmias.The structural and functional effects of the familial hypertrophic cardiomyopathy-linked cardiac troponin C mutation, L29QHypertrophic cardiomyopathy-linked mutation D145E drastically alters calcium binding by the C-domain of cardiac troponin C.
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P2860
Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C
description
2008 nî lūn-bûn
@nan
2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@ast
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@en
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@nl
type
label
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@ast
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@en
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@nl
prefLabel
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@ast
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@en
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@nl
P2093
P2860
P3181
P1476
Molecular and functional chara ...... ns in TNNC1-encoded troponin C
@en
P2093
David J Tester
J Martijn Bos
James D Potter
Michael J Ackerman
Michelle L Marquardt
Michelle S Parvatiyar
Steve R Ommen
P2860
P304
P3181
P356
10.1016/J.YJMCC.2008.05.003
P407
P577
2008-05-11T00:00:00Z