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

Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2

5 Mar 2019

Abstract excerpt

Hypertrophic cardiomyopathy (HCM) is triggered mainly by mutations in genes encoding sarcomeric proteins, but a significant proportion of patients lack a genetic diagnosis. We identified a novel mutation in the ryanodine receptor 2, RyR2-P1124L, in a patient from a genotype-negative HCM cohort. The aim of this study was to determine whether RyR2-P1124L triggers functional and structural alterations in isolated...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Cardiomyopathy and Myosin Studies
Share to Ion channel regulation and function

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 30835254
DOI: 10.1172/jci.insight.126544

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cardiac hypertrophy and arrhythmia in mice induced by a mutation in ryanodine receptor 2PMID 30835254Read ↗

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

The Role of RyR2 Mutations in Congenital Heart Diseases: Insights Into Cardiac Electrophysiological Mechanisms.Semantic proximity Read ↗

Increased Ca 2+ Transient Underlies RyR2-Related Left Ventricular NoncompactionSemantic proximity Read ↗

"Ryanopathies" and RyR2 dysfunctions: can we further decipher them using in vitro human disease models?Semantic proximity Read ↗

Role of Ca2+ in healthy and pathologic cardiac function: from normal excitation-contraction coupling to mutations that cause inherited arrhythmia.Semantic proximity Read ↗

Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies—Present State, Challenges, and PerspectivesSemantic proximity Read ↗

Arrhythmogenic mechanism of a novel ryanodine receptor mutation underlying sudden cardiac death.Semantic proximity Read ↗

Ryanodine receptor channelopathies.Semantic proximity Read ↗

Subclinical abnormalities in sarcoplasmic reticulum Ca(2+) release promote eccentric myocardial remodeling and pump failure death in response to pressure overload.Semantic proximity Read ↗

RYR2-ryanodinopathies: from calcium overload to calcium deficiency.Semantic proximity Read ↗

The Cardiac Ryanodine Receptor N-Terminal Region Contains an Anion Binding Site that Is Targeted by Disease MutationsSemantic proximity Read ↗

Cardiac calcium signalling pathologies associated with defective calmodulin regulation of type 2 ryanodine receptor.Semantic proximity Read ↗

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