Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy (Q44354566)

2 December 2017

title

Mutations in MYH7 reduce the force generating capacity of sarcomeres in human familial hypertrophic cardiomyopathy (English)

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2 December 2017

9

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14

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2 December 2017

Jolanda van der Velden

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E. Rosalie Witjas-Paalberends

2 December 2017

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object named as

E Rosalie Witjas-Paalberends

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2 December 2017

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Cris dos Remedios

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2 December 2017

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Nicoletta Piroddi

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2 December 2017

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Beatrice Scellini

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2 December 2017

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Chiara Tesi

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2 December 2017

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Corrado Poggesi

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2 December 2017

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Sabine J van Dijk

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2 December 2017

Marjon van Slegtenhorst

10

object named as

Marjon van Slegtenhorst

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2 December 2017

Kelly Stam

3

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2 December 2017

Vasco Sequeira Oliviera

5

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2 December 2017

Claudia Ferrara

6

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2 December 2017

Mark Hazebroek

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2 December 2017

Hans W M Niessen

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2 December 2017

Stephane Heymans

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2 December 2017

Michelle Michels

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2 December 2017

publication date

13 May 2013

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2 December 2017

published in

Cardiovascular Research

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2 December 2017

volume

99

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2 December 2017

issue

3

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2 December 2017

page(s)

432-441

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2 December 2017

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Progress with genetic cardiomyopathies: screening, counseling, and testing in dilated, hypertrophic, and arrhythmogenic right ventricular dysplasia/cardiomyopathy.

21 January 2018

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Early identification of mutation carriers in familial hypertrophic cardiomyopathy by combined echocardiography and tissue Doppler imaging

21 January 2018

1 reference

How do hypertrophic cardiomyopathy mutations affect myocardial function in carriers with normal wall thickness? Assessment with cardiovascular magnetic resonance.

21 January 2018

1 reference

Echocardiographic strain imaging to assess early and late consequences of sarcomere mutations in hypertrophic cardiomyopathy

21 January 2018

1 reference

Diastolic abnormalities as the first feature of hypertrophic cardiomyopathy in Dutch myosin-binding protein C founder mutations

21 January 2018

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Increased left ventricular torsion in hypertrophic cardiomyopathy mutation carriers with normal wall thickness.

21 January 2018

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American College of Cardiology/European Society of Cardiology clinical expert consensus document on hypertrophic cardiomyopathy. A report of the American College of Cardiology Foundation Task Force on Clinical Expert Consensus Documents and the Euro

21 January 2018

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Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy

21 January 2018

1 reference

Relaxation kinetics following sudden Ca(2 ) reduction in single myofibrils from skeletal muscle

21 January 2018

1 reference

Distinct myocardial effects of beta-blocker therapy in heart failure with normal and reduced left ventricular ejection fraction

21 January 2018

1 reference

Evidence from human myectomy samples that MYBPC3 mutations cause hypertrophic cardiomyopathy through haploinsufficiency

21 January 2018

1 reference

Cardiac myosin-binding protein C mutations and hypertrophic cardiomyopathy: haploinsufficiency, deranged phosphorylation, and cardiomyocyte dysfunction

21 January 2018

1 reference

Accumulation and assembly of myosin in hypertrophic cardiomyopathy with the 403 Arg to Gln beta-myosin heavy chain mutation

21 January 2018

1 reference

Determination of left ventricular mass by echocardiography in a normal population: effect of age and sex in addition to body size

21 January 2018

1 reference

The aging myocardium: roles of mitochondrial damage and lysosomal degradation

21 January 2018

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Contractile dysfunction irrespective of the mutant protein in human hypertrophic cardiomyopathy with normal systolic function

21 January 2018

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Clinical Features and Prognostic Implications of Familial Hypertrophic Cardiomyopathy Related to the Cardiac Myosin-Binding Protein C Gene

21 January 2018

1 reference

Prevalence and spectrum of mutations in a cohort of 192 unrelated patients with hypertrophic cardiomyopathy

21 January 2018

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Wall stress and patterns of hypertrophy in the human left ventricle

21 January 2018

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

21 January 2018

1 reference

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

21 January 2018

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Normal passive viscoelasticity but abnormal myofibrillar force generation in human hypertrophic cardiomyopathy

21 January 2018

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21 January 2018

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Oxidation of myofibrillar proteins in human heart failure

21 January 2018

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Late sodium current inhibition reverses electromechanical dysfunction in human hypertrophic cardiomyopathy

21 January 2018

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

21 January 2018

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Skeletal muscle expression and abnormal function of beta-myosin in hypertrophic cardiomyopathy

21 January 2018

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

21 January 2018

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Functional effects of the hypertrophic cardiomyopathy R403Q mutation are different in an alpha- or beta-myosin heavy chain backbone

21 January 2018

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Myosin heavy chain composition and the economy of contraction in healthy and diseased human myocardium

21 January 2018

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Transgenic mouse α- and β-cardiac myosins containing the R403Q mutation show isoform-dependent transient kinetic differences

21 January 2018

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Familial hypertrophic cardiomyopathy: from mutations to functional defects

21 January 2018

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Expression of a mutant (Arg92Gln) human cardiac troponin T, known to cause hypertrophic cardiomyopathy, impairs adult cardiac myocyte contractility

21 January 2018

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

21 January 2018

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

21 January 2018

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Perturbed length-dependent activation in human hypertrophic cardiomyopathy with missense sarcomeric gene mutations

21 January 2018

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A piece of the human heart: variance of protein phosphorylation in left ventricular samples from end-stage primary cardiomyopathy patients

21 January 2018

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

21 January 2018

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Compound and double mutations in patients with hypertrophic cardiomyopathy: implications for genetic testing and counselling

21 January 2018

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Isometric tension development and its calcium sensitivity in skinned myocyte-sized preparations from different regions of the human heart

21 January 2018

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The familial hypertrophic cardiomyopathy-associated myosin mutation R403Q accelerates tension generation and relaxation of human cardiac myofibrils

21 January 2018

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Microvascular Function Is Selectively Impaired in Patients With Hypertrophic Cardiomyopathy and Sarcomere Myofilament Gene Mutations

21 January 2018

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https://api.fatcat.wiki/v0/release/yucviwlnafebho25ajrejs3hxm

21 January 2018

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