How do MYBPC3 mutations cause hypertrophic cardiomyopathy? (Q28252351)

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Asymmetric septal hypertrophy in heterozygous cMyBP-C null mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Length and protein kinase A modulations of myocytes in cardiac myosin binding protein C-deficient mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Protein kinase A-induced myofilament desensitization to Ca(2+) as a result of phosphorylation of cardiac myosin-binding protein C

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

A common MYBPC3 (cardiac myosin binding protein C) variant associated with cardiomyopathies in South Asia

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

COOH-terminal truncated cardiac myosin-binding protein C mutants resulting from familial hypertrophic cardiomyopathy mutations exhibit altered expression and/or incorporation in fetal rat cardiomyocytes

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Hypertrophic cardiomyopathy in cardiac myosin binding protein-C knockout mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

In the thick of it: HCM-causing mutations in myosin binding proteins of the thick filament

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Alterations in Ca2+ sensitive tension due to partial extraction of C-protein from rat skinned cardiac myocytes and rabbit skeletal muscle fibers

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Nonsense-mediated mRNA decay: splicing, translation and mRNP dynamics

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

How Do Mutations in Contractile Proteins Cause the Primary Familial Cardiomyopathies?

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

A cardiac myosin binding protein C mutation in the Maine Coon cat with familial hypertrophic cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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%2FS10974-011-9268-3

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

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Cardiac myosin-binding protein-C phosphorylation and cardiac function

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Cardiac myosin binding protein C phosphorylation is cardioprotective

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Impairment of the ubiquitin-proteasome system by truncated cardiac myosin binding protein C mutants

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Cardiac myosin-binding protein C in hypertrophic cardiomyopathy: Mechanisms and therapeutic opportunities

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Investigation of a transgenic mouse model of familial dilated cardiomyopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Molecular Mechanism of the E99K Mutation in Cardiac Actin (ACTC Gene) That Causes Apical Hypertrophy in Man and Mouse

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Increased Ca2+-sensitivity of the contractile apparatus in end-stage human heart failure results from altered phosphorylation of contractile proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Nonsense-mediated mRNA decay and ubiquitin-proteasome system regulate cardiac myosin-binding protein C mutant levels in cardiomyopathic mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1007%2FS10974-011-9268-3

Phosphorylation of purified cardiac muscle C-protein by purified cAMP-dependent and endogenous Ca2+-calmodulin-dependent protein kinases

21 January 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22057632

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Troponin phosphorylation and regulatory function in human heart muscle: dephosphorylation of Ser23/24 on troponin I could account for the contractile defect in end-stage heart failure

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/22057632