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Article

Mutation E169K in junctophilin-2 causes atrial fibrillation due to impaired RyR2 stabilization.

Journal of the American College of Cardiology - 19 Nov 2013

Beavers David L, Wang Wei, Ather Sameer, Voigt Niels, Garbino Alejandro, Dixit Sayali S, Landstrom Andrew P, Li Na, Wang Qiongling, Olivotto Iacopo, Dobrev Dobromir, Ackerman Michael J, Wehrens Xander H T

Abstract excerpt

OBJECTIVES: This study sought to study the role of junctophilin-2 (JPH2) in atrial fibrillation (AF). BACKGROUND: JPH2 is believed to have an important role in sarcoplasmic reticulum (SR) Ca(2+) handling and modulation of ryanodine receptor Ca(2+) channels (RyR2). Whereas defective RyR2-mediated Ca(2+) release contributes to the pathogenesis of AF, nothing is known about the potential role of JPH2 in atrial...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 23973696
DOI: 10.1016/j.jacc.2013.06.052
PMCID: PMC3830688

Genes

JPH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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