First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
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Gene regulation, alternative splicing, and posttranslational modification of troponin subunits in cardiac development and adaptation: a focused reviewCardiomyopathy classification: ongoing debate in the genomics eraChamber Specific Gene Expression Landscape of the Zebrafish HeartCrystal Structure of Cardiac Troponin C Regulatory Domain in Complex with Cadmium and Deoxycholic Acid Reveals Novel ConformationThe structure of cardiac troponin C regulatory domain with bound Cd2+ reveals a closed conformation and unique ion coordinationCardiac Troponin and Tropomyosin: Structural and Cellular Perspectives to Unveil the Hypertrophic Cardiomyopathy PhenotypeGenetics of hypertrophic cardiomyopathy in eastern Finland: few founder mutations with benign or intermediary phenotypesA mutation in TNNC1-encoded cardiac troponin C, TNNC1-A31S, predisposes to hypertrophic cardiomyopathy and ventricular fibrillationMolecular and functional characterization of novel hypertrophic cardiomyopathy susceptibility mutations in TNNC1-encoded troponin CStructure and function of cardiac troponin C (TNNC1): Implications for heart failure, cardiomyopathies, and troponin modulating drugsDistinct troponin C isoform requirements in cardiac and skeletal musclePathogenic 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.Molecular genetics and pathogenesis of hypertrophic cardiomyopathy.Novel frameshift mutation in Troponin C ( TNNC1) associated with hypertrophic cardiomyopathy and sudden death.Noncanonical EF-hand motif strategically delays Ca2+ buffering to enhance cardiac performanceStrong cross-bridges potentiate the Ca(2+) affinity changes produced by hypertrophic cardiomyopathy cardiac troponin C mutants in myofilaments: a fast kinetic approach.Modifier genes for hypertrophic cardiomyopathyIdentifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal historyMolecular mechanisms of inherited cardiomyopathies.Familial hypertrophic cardiomyopathy related cardiac troponin C L29Q mutation alters length-dependent activation and functional effects of phosphomimetic troponin I*The pathology of hypertrophic cardiomyopathy.Changing a limb muscle growth program into a resorption programFluorescent 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 GeneStructural and functional consequences of the cardiac troponin C L48Q Ca(2+)-sensitizing mutation.Cardiomyopathy-Related Mutations in Cardiac Troponin C, L29Q and G159D, Have Divergent Effects on Rat Cardiac Myofiber Contractile Dynamics.Molecular genetics in hypertrophic cardiomyopathy: towards individualized management of the disease.Genetic basis of hypertrophic cardiomyopathy.Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics.Alterations in energy metabolism in cardiomyopathies.Enhanced troponin I binding explains the functional changes produced by the hypertrophic cardiomyopathy mutation A8V of cardiac troponin CA functional and structural study of troponin C mutations related to hypertrophic cardiomyopathy.Designing heart performance by gene transfer.Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.Thick and thin filament gene mutations in striated muscle diseases.Biochemical characterisation of Troponin C mutations causing hypertrophic and dilated cardiomyopathies.Cardiac troponin structure-function and the influence of hypertrophic cardiomyopathy associated mutations on modulation of contractility.Genetics of hypertrophic cardiomyopathy: A review of current state.Changes in the dynamics of the cardiac troponin C molecule explain the effects of Ca2+-sensitizing mutations.
P2860
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P2860
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
description
2001 nî lūn-bûn
@nan
2001 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
2001 թվականի հունիսին հրատարակված գիտական հոդված
@hy
2001年の論文
@ja
2001年論文
@yue
2001年論文
@zh-hant
2001年論文
@zh-hk
2001年論文
@zh-mo
2001年論文
@zh-tw
2001年论文
@wuu
name
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@ast
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@en
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@nl
type
label
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@ast
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@en
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@nl
prefLabel
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@ast
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@en
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@nl
P2093
P3181
P356
P1433
P1476
First mutation in cardiac troponin C, L29Q, in a patient with hypertrophic cardiomyopathy
@en
P2093
B Hoffmann
H Schmidt-Traub
K J Osterziel
P3181
P356
10.1002/HUMU.1143
P407
P577
2001-06-01T00:00:00Z