(Q37855688)

24 August 2017

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title

How do mutations in contractile proteins cause the primary familial cardiomyopathies? (English)

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24 August 2017

Steven B Marston

1

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24 August 2017

language of work or name

English

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publication date

22 March 2011

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Journal of Cardiovascular Translational Research

24 August 2017

published in

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24 August 2017

volume

4

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24 August 2017

issue

3

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24 August 2017

page(s)

245-255

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

24 August 2017

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Properties of mutant contractile proteins that cause hypertrophic cardiomyopathy

21 January 2018

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Mutations in sarcomere protein genes as a cause of dilated cardiomyopathy

21 January 2018

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Severe disease expression of cardiac troponin C and T mutations in patients with idiopathic dilated cardiomyopathy

21 January 2018

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The role of sarcomere gene mutations in patients with idiopathic dilated cardiomyopathy

21 January 2018

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A novel mutation Lys273Glu in the cardiac troponin T gene shows high degree of penetrance and transition from hypertrophic to dilated cardiomyopathy

21 January 2018

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Analysis of cardiac myosin binding protein-C phosphorylation in human heart muscle

21 January 2018

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The molecular phenotype of human cardiac myosin associated with hypertrophic obstructive cardiomyopathy

21 January 2018

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Muscle disease caused by mutations in the skeletal muscle alpha-actin gene (ACTA1).

21 January 2018

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Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies

21 January 2018

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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

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

21 January 2018

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Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

21 January 2018

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Novel splice donor site mutation in the cardiac myosin-binding protein-C gene in familial hypertrophic cardiomyopathy. Characterization Of cardiac transcript and protein

21 January 2018

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A newly created splice donor site in exon 25 of the MyBP-C gene is responsible for inherited hypertrophic cardiomyopathy with incomplete disease penetrance

21 January 2018

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

21 January 2018

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

21 January 2018

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Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice

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

21 January 2018

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Characterization of mutant myosins of Dictyostelium discoideum equivalent to human familial hypertrophic cardiomyopathy mutants. Molecular force level of mutant myosins may have a prognostic implication

21 January 2018

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

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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Insights into human beta-cardiac myosin function from single molecule and single cell studies

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Phosphorylation and function of cardiac myosin binding protein-C in health and disease.

21 January 2018

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The Genetic Basis for Cardiomyopathy

21 January 2018

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Structural kinetics of cardiac troponin C mutants linked to familial hypertrophic and dilated cardiomyopathy in troponin complexes.

21 January 2018

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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

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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Effect of extraction of myosin binding protein C on contractility of rat heart.

21 January 2018

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Altered cardiac excitation-contraction coupling in mutant mice with familial hypertrophic cardiomyopathy

21 January 2018

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Phosphorylation of RNA polymerase II in cardiac hypertrophy: cell enlargement signals converge on cyclin T/Cdk9.

21 January 2018

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Hypertrophic cardiomyopathy:a paradigm for myocardial energy depletion

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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Laminin-alpha4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

21 January 2018

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A common MLP (muscle LIM protein) variant is associated with cardiomyopathy

21 January 2018

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The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy

21 January 2018

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Desmin mutation responsible for idiopathic dilated cardiomyopathy

21 January 2018

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Actin mutations in dilated cardiomyopathy, a heritable form of heart failure

21 January 2018

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Alterations in thin filament regulation induced by a human cardiac troponin T mutant that causes dilated cardiomyopathy are distinct from those induced by troponin T mutants that cause hypertrophic cardiomyopathy

21 January 2018

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Dilated cardiomyopathy mutations in three thin filament regulatory proteins result in a common functional phenotype

21 January 2018

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Dilated and hypertrophic cardiomyopathy mutations in troponin and alpha-tropomyosin have opposing effects on the calcium affinity of cardiac thin filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Functional analysis of a unique troponin c mutation, GLY159ASP, that causes familial dilated cardiomyopathy, studied in explanted heart muscle.

21 January 2018

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https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Tcap gene mutations in hypertrophic cardiomyopathy and dilated cardiomyopathy

21 January 2018

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Multiple intermediate states precede pore block during N-type inactivation of a voltage-gated potassium channel

21 January 2018

1 reference

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A Mutant Tropomyosin That Causes Hypertrophic Cardiomyopathy Is Expressed In Vivo and Associated With an Increased Calcium Sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Human actin mutations associated with hypertrophic and dilated cardiomyopathies demonstrate distinct thin filament regulatory properties in vitro

21 January 2018

1 reference

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Familial Hypertrophic Cardiomyopathy-linked Alterations in Ca2+ Binding of Human Cardiac Myosin Regulatory Light Chain Affect Cardiac Muscle Contraction

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Altered regulatory properties of human cardiac troponin I mutants that cause hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Functional consequences of the mutations in human cardiac troponin I gene found in familial hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Cardiac troponin T mutation R141W found in dilated cardiomyopathy stabilizes the troponin T-tropomyosin interaction and causes a Ca2+ desensitization

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Novel mutations in sarcomeric protein genes in dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Dilated cardiomyopathy and heart failure caused by a mutation in phospholamban

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Novel troponin T mutation in familial dilated cardiomyopathy with gender-dependant severity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Functional aberration of myofibrils by cardiomyopathy-causing mutations in the coiled-coil region of the troponin-core domain.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Identification and functional characterization of cardiac troponin I as a novel disease gene in autosomal dominant dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Mutations that alter the surface charge of alpha-tropomyosin are associated with dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Dilated cardiomyopathy mutant tropomyosin mice develop cardiac dysfunction with significantly decreased fractional shortening and myofilament calcium sensitivity

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Familial dilated cardiomyopathy caused by an alpha-tropomyosin mutation: the distinctive natural history of sarcomeric dilated cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Mutation screening in dilated cardiomyopathy: prominent role of the beta myosin heavy chain gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS12265-011-9266-2

Hypertrophic cardiomyopathy

21 January 2018

1 reference

12 December 2020

Myofilament Ca2+ sensitization causes susceptibility to cardiac arrhythmia in mice.

1 reference

12 December 2020

The use of phosphate-affinity SDS-PAGE to measure the cardiac troponin I phosphorylation site distribution in human heart muscle.

1 reference

12 December 2020

Independent FHC-related cardiac troponin T mutations exhibit specific alterations in myocellular contractility and calcium kinetics

1 reference

12 December 2020

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

1 reference

12 December 2020

Myosin S2 is not required for effects of myosin binding protein-C on motility

1 reference

12 December 2020

Isometric tension and mutant myosin heavy chain content in single skeletal myofibers from hypertrophic cardiomyopathy patients

1 reference

12 December 2020

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

1 reference

12 December 2020

Cardiac troponin T mutations: correlation between the type of mutation and the nature of myofilament dysfunction in transgenic mice

1 reference

12 December 2020

Investigation of changes in skeletal muscle alpha-actin expression in normal and pathological human and mouse hearts

1 reference

12 December 2020

Hypertrophic cardiomyopathy: two homozygous cases with "typical" hypertrophic cardiomyopathy and three new mutations in cases with progression to dilated cardiomyopathy

1 reference

12 December 2020

Mouse model of a familial hypertrophic cardiomyopathy mutation in alpha-tropomyosin manifests cardiac dysfunction

1 reference

12 December 2020

Variability in the ratio of mutant to wildtype myosin heavy chain present in the soleus muscle of patients with familial hypertrophic cardiomyopathy. A new approach for the quantification of mutant to wildtype protein

1 reference

12 December 2020

From genotype to phenotype: a longitudinal study of a patient with hypertrophic cardiomyopathy due to a mutation in the MYBPC3 gene

1 reference

12 December 2020

The genetic basis for cardiomyopathy: from mutation identification to mechanistic paradigms

1 reference

12 December 2020

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

1 reference

12 December 2020

Effects of Actin-Myosin Kinetics on the Calcium Sensitivity of Regulated Thin Filaments

1 reference

12 December 2020

10.1007/S12265-011-9266-2

Identifiers

DOI

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24 August 2017

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