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

Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?

Heart rhythm - 1 Oct 2010

Gehmlich Katja, Asimaki Angeliki, Cahill Thomas J, Ehler Elisabeth, Syrris Petros, Zachara Elisabetta, Re Federica, Avella Andrea, Monserrat Lorenzo, Saffitz Jeffrey E, McKenna William J

Abstract excerpt

BACKGROUND: The diagnosis of arrhythmogenic right ventricular cardiomyopathy can be challenging. Disease-causing mutations in desmosomal genes have been identified. A novel diagnostic feature, loss of immunoreactivity for plakoglobin from the intercalated disks, recently was proposed. OBJECTIVE: The purpose of this study was to identify two novel mutations in the intracellular cadherin segment of desmoglein-2...

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmogenic Right Ventricular Dysplasia
Share to Biopsy, Needle

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Cadherins

Share to Desmoglein 2

Share to Endocardium

Share to gamma Catenin

Share to Heart Ventricles

Share to Plakophilins

Source

Open in PubMed Open full text

Identifiers

PMID: 20708101
DOI: 10.1016/j.hrthm.2010.08.007
PMCID: PMC2994644

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Novel missense mutations in exon 15 of desmoglein-2: role of the intracellular cadherin segment in arrhythmogenic right ventricular cardiomyopathy?PMID 20708101Read ↗

Mechanistic insights into arrhythmogenic right ventricular cardiomyopathy caused by desmocollin-2 mutationsSemantic proximity Read ↗

Molecular genetics of arrhythmogenic right ventricular cardiomyopathy: emerging horizon?Semantic proximity Read ↗

Abnormal connexin43 in arrhythmogenic right ventricular cardiomyopathy caused by plakophilin-2 mutations.Semantic proximity Read ↗

Prevalence of desmosomal protein gene mutations in patients with dilated cardiomyopathy.Semantic proximity Read ↗

Molecular Insights into Arrhythmogenic Right Ventricular Cardiomyopathy Caused by Plakophilin-2 Missense MutationsSemantic proximity Read ↗

Plakophilin-2 missense mutations in arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Mutations in desmoglein-2 gene are associated with arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Clinical expression of plakophilin-2 mutations in familial arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.Semantic proximity Read ↗

A novel dominant mutation in plakoglobin causes arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Arrhythmogenic Right Ventricular Cardiomyopathy Plakophilin-2 Mutations Disrupt Desmosome Assembly and StabilitySemantic proximity Read ↗

Loss of plakoglobin immunoreactivity in intercalated discs in arrhythmogenic right ventricular cardiomyopathy: protein mislocalization versus epitope masking.Semantic proximity Read ↗

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