Article

Analysis of HCM in an understudied population reveals a new mechanism of pathogenicity

2020-03-26

Abstract excerpt

Hypertrophic Cardiomyopathy (HCM) is an inherited disease characterized by genetic and phenotypic heterogeneity. MYH7 represents one of the main sarcomere-encoding genes associated with HCM. Missense variants in this gene cause HCM through gain-of-function actions, whereby variants produce an abnormal activated protein which incorporates into the sarcomere as a ‘poison peptide’. Here we report a frameshift variant...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: 59b05c57-7232-5bfb-a236-45ea3e760f9d
DOI: 10.1101/2020.03.24.20037358

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Analysis of HCM in an understudied population reveals a new mechanism of pathogenicityDOI 10.1101/2020.03.24.20037358Read

A MYH7 variant in a five-generation-family with hypertrophic cardiomyopathySemantic proximity Read

Molecular Genetic Basis of Hypertrophic Cardiomyopathy.Semantic proximity Read

MYH7B variants cause hypertrophic cardiomyopathy by activating the CaMK-signaling pathway.Semantic proximity Read

Exome sequencing identifies a novel MYH7 p.G407C mutation responsible for familial hypertrophic cardiomyopathy.Semantic proximity Read

Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance.Semantic proximity Read

Hypertrophic cardiomyopathy: from genetics to treatment.Semantic proximity Read

Comprehensive analysis of the beta-myosin heavy chain gene in 389 unrelated patients with hypertrophic cardiomyopathy.Semantic proximity Read

A novel mutation of the beta myosin heavy chain gene responsible for familial hypertrophic cardiomyopathy.Semantic proximity Read

Myosin Heavy Chain Converter Domain Mutations Drive Early-Stage Changes in Extracellular Matrix Dynamics in Hypertrophic CardiomyopathySemantic proximity Read

The MYH7 c.2770G > A (p.Glu924Lys) mutation exhibits phenotypic heterogeneity in hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM): a case report.Semantic proximity Read

Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage.Semantic proximity Read

[Analysis of phenotype and MYH7 gene variant in a family of patients with hypertrophic cardiomyopathy].Semantic proximity Read