Results 131 to 140 of about 9,138 (204)

Myosin-binding Protein C Compound Heterozygous Variant Effect on the Phenotypic Expression of Hypertrophic Cardiomyopathy

open access: yesArquivos Brasileiros de Cardiologia
Hypertrophic cardiomyopathy (HCM) is an autosomal dominant genetic disease caused by mutations in genes encoding sarcomere proteins. It is the major cause of sudden cardiac death in young high-level athletes.
Julianny Freitas Rafael   +6 more
doaj   +1 more source

Genetic Basis of Hypertrophic Cardiomyopathy in Cats

open access: yesCurrent Issues in Molecular Biology
Hypertrophic cardiomyopathy (HCM) is a common cardiovascular condition in cats, affecting yth males and females of all ages. Some breeds, such as Ragdolls and Maine Coons, can develop HCM at a young age.
Arkadiusz Grzeczka   +3 more
doaj   +1 more source

Significance of left ventricular apical-basal muscle bundle identified by cardiovascular magnetic resonance imaging in patients with hypertrophic cardiomyopathy [PDF]

open access: yes, 2017
Aims Cardiovascular magnetic resonance (CMR) has improved diagnostic and management strategies in hypertrophic cardiomyopathy (HCM) by expanding our appreciation for the diverse phenotypic expression. We sought to characterize the prevalence and clinical
Appelbaum, Evan   +18 more
core  

Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases [PDF]

open access: yes, 2008
We define phosphovariants as genetic variations that change phosphorylation sites or their interacting kinases. Considering the essential role of phosphorylation in protein functions, it is highly likely that phosphovariants change protein functions and ...
Gil-Mi Ryu   +4 more
core   +1 more source

A Novel Truncating Variant in MYBPC3 Causes Hypertrophic Cardiomyopathy

open access: yes
AbstractBackgroundFamilial hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disease. Related mutations contributing to hypercontractility and poor relaxation in HCM have been incompletely understood. The purpose of this study was to explore and verify a novel variant in cardiac myosin-binding protein C3 (MYBPC3) in a HCM ...
Yuanyuan Zhang   +4 more
openaire   +1 more source

Inactivation of myosin binding protein C homolog in zebrafish as a model for human cardiac hypertrophy and diastolic dysfunction [PDF]

open access: yes
[[incitationindex ...
[[corresponding]]Tsai CT   +1 more
core  

Fatal neonatal hypertrophic cardiomyopathy caused by compound heterozygous truncating MYBPC3 mutation [PDF]

open access: yesNetherlands Heart Journal, 2019
Alsters, S.   +6 more
openaire   +3 more sources

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