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

Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro.

International journal of cardiology - 3 Mar 2011

Marjamaa Annukka, Laitinen-Forsblom Päivi, Wronska Anetta, Toivonen Lauri, Kontula Kimmo, Swan Heikki

Abstract excerpt

BACKGROUND: Catecholaminergic polymorphic ventricular tachycardia caused by mutations in the RyR2 gene manifests as severe arrhythmias, and may provide a candidate for sudden cardiac deaths. METHODS: We screened 19 victims of SCD for mutations in the RyR2 gene by direct sequencing, and analyzed D...

Read the complete abstract on PubMed

Topics

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

Share to Cardiomyopathies
Share to Death, Sudden, Cardiac
Share to Family

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to In Vitro Techniques

Share to Membrane Potentials

Share to Mutation, Missense

Share to Ryanodine Receptor Calcium Release Channel

Share to Tachycardia, Ventricular

Source

Identifiers

PMID: 19781797
DOI: 10.1016/j.ijcard.2009.08.041

Genes

SCD

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19781797-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Ryanodine receptor (RyR2) mutations in sudden cardiac death: studies in extended pedigrees and phenotypic characterization in vitro.PMID 19781797Read ↗

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

Loss-of-function mutations in cardiac ryanodine receptor channel cause various types of arrhythmias including long QT syndrome.Semantic proximity Read ↗

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

Functional heterogeneity of ryanodine receptor mutations associated with sudden cardiac deathSemantic proximity Read ↗

Non-ventricular, Clinical, and Functional Features of the RyR2(R420Q) Mutation Causing Catecholaminergic Polymorphic Ventricular Tachycardia.Semantic proximity Read ↗

Role of ryanodine receptor mutations in cardiac pathology: more questions than answers?Semantic proximity Read ↗

Diverse Phenotypic Manifestations in a Family with a Novel RYR2 E4107A Variant.Semantic proximity Read ↗

Rare RYR2 p.Thr85Ile variant is associated with catecholaminergic polymorphic ventricular tachycardia.Semantic proximity Read ↗

Identification of loss-of-function RyR2 mutations associated with idiopathic ventricular fibrillation and sudden deathSemantic proximity Read ↗

Expanding spectrum of human RYR2-related disease: new electrocardiographic, structural, and genetic features.Semantic proximity Read ↗

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

Cardiac ryanodine receptor calcium release deficiency syndrome.Semantic proximity Read ↗

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