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

Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.

Cardiovascular research - 1 Aug 2006

Milting Hendrik, Lukas Nina, Klauke Bärbel, Körfer Reiner, Perrot Andreas, Osterziel Karl-Josef, Vogt Jürgen, Peters Stefan, Thieleczek Rolf, Varsányi Magdolna

Abstract excerpt

OBJECTIVE: Mutations in the cardiac ryanodine receptor (RYR2) gene have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC). The molecular mechanisms by which genetic modifications lead to ARVC are still not well understood. METHODS: ARVC patients were screened for mutations in the RYR2 gene by denaturing HPLC and DNA sequencing. Single channel measurements were carried out with RyR2...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Sequence
Share to Arrhythmogenic Right Ventricular Dysplasia

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Cardiomyopathy, Dilated

Share to Chromatography, High Pressure Liquid

Share to DNA Mutational Analysis

Share to Molecular Sequence Data

Share to Ryanodine Receptor Calcium Release Channel

Share to Species Specificity

Source

Identifiers

PMID: 16769042
DOI: 10.1016/j.cardiores.2006.04.004

Genes

RYR2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Composite polymorphisms in the ryanodine receptor 2 gene associated with arrhythmogenic right ventricular cardiomyopathy.PMID 16769042Read ↗

Identification of mutations in the cardiac ryanodine receptor gene in families affected with arrhythmogenic right ventricular cardiomyopathy type 2 (ARVD2).Semantic proximity Read ↗

Ryanodine receptor mutations in arrhythmias: advances in understanding the mechanisms of channel dysfunction.Semantic proximity Read ↗

ARVC-related mutations in divergent region 3 alter functional properties of the cardiac ryanodine receptor.Semantic proximity Read ↗

Ryanodine receptor mutations presenting as idiopathic ventricular fibrillation: a report on two novel familial compound mutations, c.6224T>C and c.13781A>G, with the clinical presentation of idiopathic ventricular fibrillation.Semantic proximity Read ↗

RyR2 Common Gene Variant G1886S and the Risk of Ventricular Arrhythmias in ICD Patients with Heart Failure.Semantic proximity Read ↗

Ryanodine receptor mutations in arrhythmia: The continuing mystery of channel dysfunction.Semantic proximity Read ↗

Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

Arrhythmogenic right ventricular cardiomyopathy in two pairs of monozygotic twins.Semantic proximity Read ↗

Genetic variability of RyR2 and CASQ2 genes in an Asian population.Semantic proximity Read ↗

Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.Semantic proximity Read ↗

Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.Semantic proximity Read ↗

Type 2 ryanodine receptor domain A contains a unique and dynamic α-helix that transitions to a β-strand in a mutant linked with a heritable cardiomyopathy.Semantic proximity Read ↗

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