Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy (Q37476496)

20 August 2017

Discrete effects of A57G-myosin essential light chain mutation associated with familial hypertrophic cardiomyopathy (English)

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hypertrophic cardiomyopathy

20 August 2017

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familial hypertrophic cardiomyopathy

inferred from title

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inferred from title

author name string

Katarzyna Kazmierczak

1

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20 August 2017

Ellena C Paulino

2

1 reference

20 August 2017

Wenrui Huang

3

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20 August 2017

Priya Muthu

4

1 reference

20 August 2017

Jingsheng Liang

5

1 reference

20 August 2017

Chen-Ching Yuan

6

1 reference

20 August 2017

Ana I Rojas

7

1 reference

20 August 2017

Joshua M Hare

8

1 reference

20 August 2017

Danuta Szczesna-Cordary

9

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20 August 2017

7 June 2013

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American Journal of Physiology Heart and Circulatory Physiology

20 August 2017

1 reference

20 August 2017

305

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20 August 2017

H575-89

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20 August 2017

4

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describes a project that uses

20 August 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC3891242/fullTextXML

inferred from PubMed Central ID database lookup

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Absence of myocardial thyroid hormone inactivating deiodinase results in restrictive cardiomyopathy in mice

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Cross-bridge kinetics in myofibrils containing familial hypertrophic cardiomyopathy R58Q mutation in the regulatory light chain of myosin

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23 August 2017

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23 August 2017

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23 August 2017

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Diastolic dysfunction in familial hypertrophic cardiomyopathy transgenic model mice

23 August 2017

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23 August 2017

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Malignant familial hypertrophic cardiomyopathy D166V mutation in the ventricular myosin regulatory light chain causes profound effects in skinned and intact papillary muscle fibers from transgenic mice

23 August 2017

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Shared genetic causes of cardiac hypertrophy in children and adults

23 August 2017

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Ventricular-vascular interaction in heart failure

23 August 2017

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A genetic framework for improving arrhythmia therapy.

23 August 2017

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Hypertrophic cardiomyopathy: the genetic determinants of clinical disease expression

23 August 2017

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Genetic basis of hypertrophic cardiomyopathy: from bench to the clinics

23 August 2017

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23 August 2017

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23 August 2017

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The E22K mutation of myosin RLC that causes familial hypertrophic cardiomyopathy increases calcium sensitivity of force and ATPase in transgenic mice

23 August 2017

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

23 August 2017

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Myosin light chain mutation causes autosomal recessive cardiomyopathy with mid-cavitary hypertrophy and restrictive physiology

23 August 2017

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23 August 2017

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23 August 2017

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Different expressivity of a ventricular essential myosin light chain gene Ala57Gly mutation in familial hypertrophic cardiomyopathy

23 August 2017

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Theoretical model for the cooperative equilibrium binding of myosin subfragment 1 to the actin-troponin-tropomyosin complex

23 August 2017

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Investigating the relaxation rate, following diazo-2 photolysis, of a skinned trabecular preparation from guinea-pig hypertrophied left ventricle

23 August 2017

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

23 August 2017

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23 August 2017

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23 August 2017

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23 August 2017

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Mechanisms of disease: hypertrophic cardiomyopathy

23 August 2017

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β-myosin heavy chain is induced by pressure overload in a minor subpopulation of smaller mouse cardiac myocytes

6 September 2017

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Single molecule kinetics in the familial hypertrophic cardiomyopathy D166V mutant mouse heart.

6 September 2017

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Role of myosin light chains

14 September 2017

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891242

A novel Myosin essential light chain mutation causes hypertrophic cardiomyopathy with late onset and low expressivity

14 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3891242

Myofilament Ca sensitization increases cytosolic Ca binding affinity, alters intracellular Ca homeostasis, and causes pause-dependent Ca-triggered arrhythmia.

26 June 2018

1 reference

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Biochemical studies of myosin

26 June 2018

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Single molecule detection approach to muscle study: kinetics of a single cross-bridge during contraction of muscle.

26 June 2018

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Cardiac myosin binding protein-C mutations in families with hypertrophic cardiomyopathy: disease expression in relation to age, gender, and long term outcome.

2 September 2018

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Genetic basis of end-stage hypertrophic cardiomyopathy.

2 September 2018

1 reference

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Expanding the range of free calcium regulation in biological solutions

2 September 2018

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Method for cardiac myosin heavy chain separation by sodium dodecyl sulfate gel electrophoresis

2 September 2018

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2 September 2018

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Prolonged Ca2+ and force transients in myosin RLC transgenic mouse fibers expressing malignant and benign FHC mutations

2 September 2018

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12 December 2020

Myosin regulatory light chain E22K mutation results in decreased cardiac intracellular calcium and force transients

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12 December 2020

Expression of the beta (slow)-isoform of MHC in the adult mouse heart causes dominant-negative functional effects

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12 December 2020

Myosin regulatory light chain mutation found in hypertrophic cardiomyopathy patients increases isometric force production in transgenic mice.

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12 December 2020

Role of myosin heavy chain composition in kinetics of force development and relaxation in rat myocardium

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12 December 2020

Prevalence of sarcomere protein gene mutations in preadolescent children with hypertrophic cardiomyopathy

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12 December 2020

Magnitude of left ventricular hypertrophy and risk of sudden death in hypertrophic cardiomyopathy

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12 December 2020

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Identifiers

DOI

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20 August 2017

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20 August 2017

1 reference