Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failure

20 Sept 2018

Abstract excerpt

During the last two decades, mutations in sarcomere genes have found to comprise the most common cause for hypertrophic cardiomyopathy (HCM), but still significant number of patients with dominant HCM in the family are left without molecular genetic diagnosis. Next generation sequencing (NGS) does not only enable evaluation of established HCM genes but also candidate genes for cardiomyopathy are frequently tested...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cardiomyopathy and Myosin Studies
Share to Signaling Pathways in Disease
Share to Viral Infections and Immunology Research

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30235249
DOI: 10.1371/journal.pone.0203422

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Heterozygous junctophilin-2 (JPH2) p.(Thr161Lys) is a monogenic cause for HCM with heart failurePMID 30235249Read ↗

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

Mutation of junctophilin type 2 associated with hypertrophic cardiomyopathy.Semantic proximity Read ↗

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

A novel splice-site FHOD3 founder variant is a common cause of hypertrophic cardiomyopathy in the population of the Balkans-A cohort study.Semantic proximity Read ↗

The role of junctophilin proteins in cellular functionSemantic proximity Read ↗

High proportion of genetic cases in patients with advanced cardiomyopathy including a novel homozygous Plakophilin 2-gene mutation.Semantic proximity Read ↗

Mutation in JPH2 cause dilated cardiomyopathy.Semantic proximity Read ↗

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.Semantic proximity Read ↗

Emerging role of junctophilin-2 as a regulator of calcium handling in the heart.Semantic proximity Read ↗

Two founder mutations in the alpha-tropomyosin and the cardiac myosin-binding protein C genes are common causes of hypertrophic cardiomyopathy in the Finnish population.Semantic proximity Read ↗

Mutation‐Specific Phenotypes in hiPSC‐Derived Cardiomyocytes Carrying Either Myosin‐Binding Protein C Or <i>α</i>‐Tropomyosin Mutation for Hypertrophic CardiomyopathySemantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.