(Q36369925)

13 August 2017

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title

Sarcomeric proteins and familial hypertrophic cardiomyopathy: linking mutations in structural proteins to complex cardiovascular phenotypes (English)

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hypertrophic cardiomyopathy

13 August 2017

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familial hypertrophic cardiomyopathy

inferred from title

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Jil C Tardiff

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13 August 2017

publication date

1 September 2005

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13 August 2017

published in

Heart Failure Reviews

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13 August 2017

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13 August 2017

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13 August 2017

page(s)

237-248

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Molecular mechanisms of inherited cardiomyopathies

13 August 2017

cites work

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https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Genotype-phenotype correlations in hypertrophic cardiomyopathy. Insights provided by comparisons of kindreds with distinct and identical beta-myosin heavy chain gene mutations

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Single-molecule mechanics of R403Q cardiac myosin isolated from the mouse model of familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Altered crossbridge kinetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Hypertrophic cardiomyopathy caused by a novel alpha-tropomyosin mutation (V95A) is associated with mild cardiac phenotype, abnormal calcium binding to troponin, abnormal myosin cycling, and poor prognosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Investigation of a truncated cardiac troponin T that causes familial hypertrophic cardiomyopathy: Ca(2+) regulatory properties of reconstituted thin filaments depend on the ratio of mutant to wild-type protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Codon 102 of the cardiac troponin T gene is a putative hot spot for mutations in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

alpha-Tropomyosin mutations Asp(175)Asn and Glu(180)Gly affect cardiac function in transgenic rats in different ways

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Clinical features and prognostic implications of familial hypertrophic cardiomyopathy related to the cardiac myosin-binding protein C gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

In vivo modeling of myosin binding protein C familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10741-005-5253-5

Altered hemodynamics in transgenic mice harboring mutant tropomyosin linked to hypertrophic cardiomyopathy

21 January 2018

1 reference

12 December 2020

Characteristics and prognostic implications of myosin missense mutations in familial hypertrophic cardiomyopathy

1 reference

12 December 2020

Familial hypertrophic cardiomyopathy-linked mutant troponin T causes stress-induced ventricular tachycardia and Ca2+-dependent action potential remodeling.

1 reference

12 December 2020

Differential cross-bridge kinetics of FHC myosin mutations R403Q and R453C in heterozygous mouse myocardium

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12 December 2020

Asymmetrical hypertrophy of the heart in young adults

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12 December 2020

Hypertrophic cardiomyopathy due to sarcomeric gene mutations is characterized by impaired energy metabolism irrespective of the degree of hypertrophy

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12 December 2020

Cardiac dysfunction in hypertrophic cardiomyopathy mutant tropomyosin mice is transgene-dependent, hypertrophy-independent, and improved by beta-blockade

1 reference

12 December 2020

Hypertrophic cardiomyopathy. Interrelations of clinical manifestations, pathophysiology, and therapy (1).

1 reference

12 December 2020

Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice

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12 December 2020

HCM in the general population

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12 December 2020

Hypertrophic cardiomyopathy: the interrelation of disarray, fibrosis, and small vessel disease

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12 December 2020

Structure and interactions of the carboxyl terminus of striated muscle alpha-tropomyosin: it is important to be flexible

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12 December 2020

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

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12 December 2020

Structural analysis of the titin gene in hypertrophic cardiomyopathy: identification of a novel disease gene

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12 December 2020

Cardiac myosin binding protein C: its role in physiology and disease

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12 December 2020

Loaded shortening, power output, and rate of force redevelopment are increased with knockout of cardiac myosin binding protein-C

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12 December 2020

Disease-causing mutations in cardiac troponin T: identification of a critical tropomyosin-binding region

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12 December 2020

Reduced cross-bridge dependent stiffness of skinned myocardium from mice lacking cardiac myosin binding protein-C.

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12 December 2020

Altered actin and troponin binding of amino-terminal variants of chicken striated muscle alpha-tropomyosin expressed in Escherichia coli.

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12 December 2020

Regulation of contraction in striated muscle

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12 December 2020

A familial hypertrophic cardiomyopathy alpha-tropomyosin mutation causes severe cardiac hypertrophy and death in mice

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12 December 2020

Cardiomyopathic tropomyosin mutations that increase thin filament Ca2+ sensitivity and tropomyosin N-domain flexibility

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12 December 2020

Sarcomere protein gene mutations in hypertrophic cardiomyopathy of the elderly

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12 December 2020

Identification of a new missense mutation at Arg403, a CpG mutation hotspot, in exon 13 of the beta-myosin heavy chain gene in hypertrophic cardiomyopathy

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12 December 2020

Novel missense mutation in alpha-tropomyosin gene found in Japanese patients with hypertrophic cardiomyopathy

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12 December 2020

The troponin tail domain promotes a conformational state of the thin filament that suppresses myosin activity.

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12 December 2020

Altered regulation of cardiac muscle contraction by troponin T mutations that cause familial hypertrophic cardiomyopathy

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12 December 2020

Physiological consequences of tropomyosin mutations associated with cardiac and skeletal myopathies

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12 December 2020

Ca2+ sensitization and potentiation of the maximum level of myofibrillar ATPase activity caused by mutations of troponin T found in familial hypertrophic cardiomyopathy

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12 December 2020

Identification of a contractile deficit in adult cardiac myocytes expressing hypertrophic cardiomyopathy-associated mutant troponin T proteins

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12 December 2020

Clinical and genetic characteristics of alpha cardiac actin gene mutations in hypertrophic cardiomyopathy.

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12 December 2020

A transgenic rabbit model for human hypertrophic cardiomyopathy

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12 December 2020

R403Q and L908V mutant beta-cardiac myosin from patients with familial hypertrophic cardiomyopathy exhibit enhanced mechanical performance at the single molecule level

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12 December 2020

Phenotypic deficits in mice expressing a myosin binding protein C lacking the titin and myosin binding domains

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12 December 2020

Mutations in the gene for cardiac myosin-binding protein C and late-onset familial hypertrophic cardiomyopathy

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12 December 2020

Altered cardiac troponin T in vitro function in the presence of a mutation implicated in familial hypertrophic cardiomyopathy

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12 December 2020

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

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12 December 2020

Human homozygous R403W mutant cardiac myosin presents disproportionate enhancement of mechanical and enzymatic properties.

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12 December 2020

The pathogenesis of familial hypertrophic cardiomyopathy: early and evolving effects from an alpha-cardiac myosin heavy chain missense mutation

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12 December 2020

Functional analyses of troponin T mutations that cause hypertrophic cardiomyopathy: insights into disease pathogenesis and troponin function

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12 December 2020

Hypertrophic cardiomyopathy: management, risk stratification, and prevention of sudden death

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12 December 2020

Dominant-negative effect of a mutant cardiac troponin T on cardiac structure and function in transgenic mice

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12 December 2020

Autoimmune myocarditis induced in mice by cardiac C-protein. Cloning of complementary DNA encoding murine cardiac C-protein and partial characterization of the antigenic peptides

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12 December 2020

Hypertrophic cardiomyopathy: a systematic review

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12 December 2020

Effect of Hypertrophic Cardiomyopathy Mutations in Human Cardiac Muscle α -tropomyosin (Asp175Asn and Glu180Gly) on the Regulatory Properties of Human Cardiac Troponin Determined by in vitro Motility Assay

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12 December 2020

Sudden death due to troponin T mutations

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12 December 2020

The molecular genetic basis for hypertrophic cardiomyopathy

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12 December 2020

A truncated cardiac troponin T molecule in transgenic mice suggests multiple cellular mechanisms for familial hypertrophic cardiomyopathy

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12 December 2020

Diastolic dysfunction and altered energetics in the alphaMHC403/+ mouse model of familial hypertrophic cardiomyopathy

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12 December 2020

Mutations in the genes for cardiac troponin T and alpha-tropomyosin in hypertrophic cardiomyopathy

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12 December 2020

Direct, convergent hypersensitivity of calcium-activated force generation produced by hypertrophic cardiomyopathy mutant alpha-tropomyosins in adult cardiac myocytes

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12 December 2020

Thin filament-mediated regulation of cardiac contraction

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12 December 2020

A mouse model of familial hypertrophic cardiomyopathy

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12 December 2020

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

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12 December 2020

Development and progression of left ventricular hypertrophy in children with hypertrophic cardiomyopathy

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12 December 2020

Functional analysis of myosin mutations that cause familial hypertrophic cardiomyopathy.

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12 December 2020

Tropomyosin and actin isoforms modulate the localization of tropomyosin strands on actin filaments.

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12 December 2020

Myosin-binding protein C (MyBP-C) in cardiac muscle and contractility

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12 December 2020

Molecular and cellular aspects of troponin cardiomyopathies

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12 December 2020

Cardiac troponin T mutations result in allele-specific phenotypes in a mouse model for hypertrophic cardiomyopathy

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12 December 2020

Effect of cardiac myosin binding protein-C on mechanoenergetics in mouse myocardium.

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12 December 2020

Hypertrophic cardiomyopathy-the clinical challenge of managing a hereditary heart condition

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12 December 2020

Role of cardiac myosin binding protein C in sustaining left ventricular systolic stiffening

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12 December 2020

Patients with familial hypertrophic cardiomyopathy caused by a Phe110Ile missense mutation in the cardiac troponin T gene have variable cardiac morphologies and a favorable prognosis

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12 December 2020

Cardiac myosin binding protein-C gene splice acceptor site mutation is associated with familial hypertrophic cardiomyopathy

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12 December 2020

Structure of the core domain of human cardiac troponin in the Ca(2+)-saturated form

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12 December 2020

Folding and function of the troponin tail domain. Effects of cardiomyopathic troponin T mutations

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12 December 2020

Mapping the interacting regions between troponins T and C. Binding of TnT and TnI peptides to TnC and NMR mapping of the TnT-binding site on TnC

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12 December 2020

Roles for the troponin tail domain in thin filament assembly and regulation. A deletional study of cardiac troponin T.

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12 December 2020

Mutations of the light meromyosin domain of the beta-myosin heavy chain rod in hypertrophic cardiomyopathy

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12 December 2020

Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

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12 December 2020

Deciphering the design of the tropomyosin molecule

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12 December 2020

Regulation of the interaction between actin and myosin subfragment 1: evidence for three states of the thin filament

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12 December 2020

Skeletal and cardiac muscle contractile activation: tropomyosin "rocks and rolls".

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12 December 2020

New insights into the pathology of inherited cardiomyopathy

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12 December 2020

The in vitro motility activity of beta-cardiac myosin depends on the nature of the beta-myosin heavy chain gene mutation in hypertrophic cardiomyopathy

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12 December 2020

Functional consequences of troponin T mutations found in hypertrophic cardiomyopathy

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12 December 2020

A mouse model of familial hypertrophic cardiomyopathy caused by a alpha-tropomyosin mutation

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12 December 2020

Survival after cardiac arrest or sustained ventricular tachycardia in patients with hypertrophic cardiomyopathy

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12 December 2020

Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy

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12 December 2020

Ca2+-sensitizing effects of the mutations at Ile-79 and Arg-92 of troponin T in hypertrophic cardiomyopathy

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12 December 2020

Structure and Dynamics of the C-domain of Human Cardiac Troponin C in Complex with the Inhibitory Region of Human Cardiac Troponin I

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12 December 2020

Mutations in the cardiac troponin I gene associated with hypertrophic cardiomyopathy

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12 December 2020

Decreased energetics in murine hearts bearing the R92Q mutation in cardiac troponin T

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12 December 2020

Troponin T: genetics, properties and function

1 reference

12 December 2020

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

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12 December 2020

Invited Review: pathophysiology of cardiac muscle contraction and relaxation as a result of alterations in thin filament regulation

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12 December 2020

Functional consequences of mutations in the myosin heavy chain at sites implicated in familial hypertrophic cardiomyopathy

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12 December 2020

A mouse model of myosin binding protein C human familial hypertrophic cardiomyopathy

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12 December 2020

Functional analysis of the mutations in the human cardiac beta-myosin that are responsible for familial hypertrophic cardiomyopathy. Implication for the clinical outcome

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12 December 2020

Novel cardiac troponin T mutation as a cause of familial dilated cardiomyopathy

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12 December 2020

Abnormal contractile function in transgenic mice expressing a familial hypertrophic cardiomyopathy-linked troponin T (I79N) mutation

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12 December 2020

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

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12 December 2020

10.1007/S10741-005-5253-5

Identifiers

DOI

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13 August 2017

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