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

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.

Molecular genetics and metabolism - 1 Jan 2000

Posch Maximilian G, Posch Matthias J, Geier Christian, Erdmann Bettina, Mueller Wolf, Richter Anette, Ruppert Volker, Pankuweit Sabine, Maisch Bernhard, Perrot Andreas, Buttgereit Jens, Dietz Rainer, Haverkamp Wilhelm, Ozcelik Cemil

Abstract excerpt

Familial Dilated Cardiomyopathy (FDCM) is caused by mutations in genes encoding myocardial force transduction proteins. Desmoglein-2 (DSG2) and Desmocollin-2 (DSC2) provide cellular adhesion and force transduction by cell-to-cell anchorage. To test whether perturbations of DSG2 or DSC2 exhibit a pathogenic impact on DCM pathogenesis, we sequenced both genes in 73 patients with FDCM and assessed prevalence of...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathy, Dilated
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Desmoglein 2

Share to Desmosomes

Share to Germany

Share to Mutation, Missense

Share to Myocardium

Share to Sequence Alignment

Source

Identifiers

PMID: 18678517
DOI: 10.1016/j.ymgme.2008.06.005

Genes

DSG2
DSC2

Variants

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

A missense variant in desmoglein-2 predisposes to dilated cardiomyopathy.PMID 18678517Read ↗

Comprehensive analysis of desmosomal protein remodelling identifies desmocollin-2 as potential biomarker for arrhythmogenic cardiomyopathySemantic proximity Read ↗

Mutant desmocollin-2 causes arrhythmogenic right ventricular cardiomyopathy.Semantic proximity Read ↗

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitroSemantic proximity Read ↗

Molecular insight into arrhythmogenic cardiomyopathy caused by DSG2 mutations.Semantic proximity Read ↗

Natural History and Clinical Outcomes of Patients With DSG2/DSC2 Variant-Related Arrhythmogenic Right Ventricular CardiomyopathySemantic proximity Read ↗

DSG2 mutations contribute to arrhythmogenic right ventricular dysplasia/cardiomyopathy.Semantic proximity Read ↗

Case reports of two pedigrees with recessive arrhythmogenic right ventricular cardiomyopathy associated with homozygous Thr335Ala variant in DSG2.Semantic proximity Read ↗

Ser194Leu DSG2 mutation, associated with arrhythmogenic left ventricular cardiomyopathy and ventricular tachycardia.Semantic proximity Read ↗

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

Desmoglein-2 related Arrhythmogenic Cardiomyopathy: Integrative Genomic and Literature-based analysis with an Italian cohort-Level ValidationSemantic proximity Read ↗

Desmoglein 2–Dependent Arrhythmogenic Cardiomyopathy Is Caused by a Loss of Adhesive FunctionSemantic proximity Read ↗

Defective Desmosomal Adhesion Causes Arrhythmogenic Cardiomyopathy by Involving an Integrin-αVβ6/TGF-β Signaling CascadeSemantic proximity Read ↗

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