Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C - Wikidata - wikimedia - TriplyDB

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

Molecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin C

http://www.wikidata.org/entity/Q28284750

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Gene regulation, alternative splicing, and posttranslational modification of troponin subunits in cardiac development and adaptation: a focused review Structure of trans -Resveratrol in Complex with the Cardiac Regulatory Protein Troponin C Cardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy Phenotype Targeting the sarcomere to correct muscle function A mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillation Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1, and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy Thin filament mutations: developing an integrative approach to a complex disorder Structure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugs Allosteric 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 C Rescue 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 muscle Strong 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 C In Vivo Analysis of Troponin C Knock-In (A8V) Mice: Evidence that TNNC1 Is a Hypertrophic Cardiomyopathy Susceptibility Gene Cardiomyopathy-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 C Hypertrophic 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 all Insights 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, L29Q Hypertrophic 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

http://www.wikidata.org/entity/Q28284750

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2008 nî lūn-bûn

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2008 թուականի Օգոստոսին հրատարակուած գիտական յօդուած

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2008 թվականի օգոստոսին հրատարակված գիտական հոդված

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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J.YJMCC.2008.05.003

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Journal of Molecular and Cellular Cardiology

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Molecular and functional chara ...... ns in TNNC1-encoded troponin C

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David J Tester

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J Martijn Bos

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James D Potter

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Michael J Ackerman

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Michelle L Marquardt

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Michelle S Parvatiyar

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Steve R Ommen

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P2860

Mutations in the cardiac myosin binding protein-C gene on chromosome 11 cause familial hypertrophic cardiomyopathy

Alpha-tropomyosin and cardiac troponin T mutations cause familial hypertrophic cardiomyopathy: a disease of the sarcomere

Mutations in either the essential or regulatory light chains of myosin are associated with a rare myopathy in human heart and skeletal muscle

Refined crystal structure of troponin C from turkey skeletal muscle at 2.0 A resolution

Inherited and de novo mutations in the cardiac actin gene cause hypertrophic cardiomyopathy

First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

A molecular basis for familial hypertrophic cardiomyopathy: a beta cardiac myosin heavy chain gene missense mutation

A fluorescent probe study of Ca2+ binding to the Ca2+-specific sites of cardiac troponin and troponin C

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans

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281-288

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3004846

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10.1016/J.YJMCC.2008.05.003

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2

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Andrew P. Landstrom

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2008-05-11T00:00:00Z

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5282613

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18572189

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