Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes.
about
Understanding cardiomyopathy phenotypes based on the functional impact of mutations in the myosin motorMolecular basis of calcium-sensitizing and desensitizing mutations of the human cardiac troponin C regulatory domain: a multi-scale simulation studyLong-term follow-up of R403WMYH7 and R92WTNNT2 HCM families: mutations determine left ventricular dimensions but not wall thickness during disease progressionPhosphorylation, but not alternative splicing or proteolytic degradation, is conserved in human and mouse cardiac troponin TCardiac thin filament regulationPerturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutationsFamilial dilated cardiomyopathy mutations uncouple troponin I phosphorylation from changes in myofibrillar Ca²⁺ sensitivityDiastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model miceThin filament mutations: developing an integrative approach to a complex disorderCombinatorial effects of double cardiomyopathy mutant alleles in rodent myocytes: a predictive cellular model of myofilament dysregulation in diseaseFunctional consequence of mutation in rat cardiac troponin T is affected differently by myosin heavy chain isoformsEchocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathyMyosin transducer mutations differentially affect motor function, myofibril structure, and the performance of skeletal and cardiac musclesThree-dimensional structure of vertebrate cardiac muscle myosin filaments.The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interfaceInfluence of a constitutive increase in myofilament Ca(2+)-sensitivity on Ca(2+)-fluxes and contraction of mouse heart ventricular myocytesFRET study of the structural and kinetic effects of PKC phosphomimetic cardiac troponin T mutants on thin filament regulation.Rescue of familial cardiomyopathies by modifications at the level of sarcomere and Ca2+ fluxes.Quantitative Proteomics Analysis Reveals Novel Targets of miR-21 in Zebrafish EmbryosInvestigations into tropomyosin function using mouse modelsCoupling of adjacent tropomyosins enhances cross-bridge-mediated cooperative activation in a markov model of the cardiac thin filament.Mechanochemotransduction during cardiomyocyte contraction is mediated by localized nitric oxide signaling.Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosinMutual rescues between two dominant negative mutations in cardiac troponin I and cardiac troponin TCardiomyopathy-linked myosin regulatory light chain mutations disrupt myosin strain-dependent biochemistry.Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy.Neonatal gene transfer of Serca2a delays onset of hypertrophic remodeling and improves function in familial hypertrophic cardiomyopathy.Estimate of the abundance of cardiomyopathic mutations in the β-myosin gene.Myosin-binding protein C DNA variants in domestic cats (A31P, A74T, R820W) and their association with hypertrophic cardiomyopathyMendelian-inherited heart disease: a gateway to understanding mechanisms in heart disease Update on work done at the University of StellenboschIdentification of novel protein kinase A phosphorylation sites in the M-domain of human and murine cardiac myosin binding protein-C using mass spectrometry analysis.Myocardial fibrosis as an early manifestation of hypertrophic cardiomyopathy.Signaling and myosin-binding protein C.Signaling to myosin regulatory light chain in sarcomeresMutations in smooth muscle alpha-actin (ACTA2) lead to thoracic aortic aneurysms and dissections.Clinical phenotype and outcome of hypertrophic cardiomyopathy associated with thin-filament gene mutations.Identifying sarcomere gene mutations in hypertrophic cardiomyopathy: a personal historyGenetics and clinical destiny: improving care in hypertrophic cardiomyopathyGenetic variation in titin in arrhythmogenic right ventricular cardiomyopathy-overlap syndromes.Long-term rescue of a familial hypertrophic cardiomyopathy caused by a mutation in the thin filament protein, tropomyosin, via modulation of a calcium cycling protein.
P2860
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P2860
Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes.
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh
2005年學術文章
@zh-hant
name
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@ast
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@en
type
label
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@ast
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@en
prefLabel
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@ast
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@en
P2860
P1476
Sarcomeric proteins and famili ...... lex cardiovascular phenotypes.
@en
P2093
Jil C Tardiff
P2860
P2888
P304
P356
10.1007/S10741-005-5253-5
P577
2005-09-01T00:00:00Z