Article

Proteomics Uncovers Cryptic <i>JPH2</i> Loss in Paediatric Dilated Cardiomyopathy

2026-06-17

Abstract excerpt

<h4>ABSTRACT</h4> Despite recent advances in next-generation sequencing, genetic diagnostic rates for dilated cardiomyopathy (DCM) remain low. Among paediatric DCM, causes are often heritable, with a greater frequency of de novo , recessive and syndromic causes of disease. Novel diagnostic methods are therefore required to solve monogenic cases. To assess the value of proteomics as a diagnostic tool for paediatr...

Topics

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

Identifiers and source

Literature Corpus work: 0115d225-20e4-56ea-b0d4-dc1a7bc33fb8
DOI: 10.64898/2026.06.16.26355718

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Proteomics Uncovers Cryptic <i>JPH2</i> Loss in Paediatric Dilated CardiomyopathyDOI 10.64898/2026.06.16.26355718Read

Functional characterization of a novel JPH2 variant (p.R160H) associated with dilated cardiomyopathy.Semantic proximity Read

Loss-of-function variants in<i>JPH1</i>cause congenital myopathy with prominent facial involvementSemantic proximity Read

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathySemantic proximity Read

Integrated Genomics Analysis Identifies Recessive Ciliopathy Mutations in Primary Endocardial Fibroelastosis: a Rare Neonatal CardiomyopathySemantic proximity Read

Multiplexed functional assessments of <i>MYH7</i> variants in human cardiomyocytes at scaleSemantic proximity Read

Homozygous PKP2 deletion associated with neonatal left ventricle noncompaction.Semantic proximity Read

Targeted panel sequencing in pediatric primary cardiomyopathy supports a critical role of TNNI3Semantic proximity Read

Loss-of-function variants in JPH1 cause congenital myopathy with prominent facial and ocular involvement.Semantic proximity Read

Mutations in JPH2-encoded junctophilin-2 associated with hypertrophic cardiomyopathy in humans.Semantic proximity Read

Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.Semantic proximity Read

Novel frameshift variant in MYL2 reveals molecular differences between dominant and recessive forms of hypertrophic cardiomyopathy.Semantic proximity Read

Integrated transcriptomics and proteomics analysis reveal age-related prognosis and myocardial fibrosis in pediatric DCMSemantic proximity Read