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

Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.

Circulation. Arrhythmia and electrophysiology - 1 Oct 2009

Vega Amanda L, Tester David J, Ackerman Michael J, Makielski Jonathan C

Abstract excerpt

BACKGROUND: KCNJ2 encodes Kir2.1, a pore-forming subunit of the cardiac inward rectifier current, I(K1). KCNJ2 mutations are associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia. The aim of this study was to characterize the biophysical and cellular phenotype of a KCNJ2 missense mutation, V227F, found in a patient with catecholaminergic polymorphic ventricular...

Read the complete abstract on PubMed

Topics

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

Share to Analysis of Variance
Share to Andersen Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Chlorocebus aethiops

Share to COS Cells

Share to Cyclic AMP-Dependent Protein Kinases

Share to Electrocardiography

Share to Potassium Channels, Inwardly Rectifying

Share to Tachycardia, Ventricular

Source

Open in PubMed Open full text

Identifiers

PMID: 19843922
DOI: 10.1161/CIRCEP.109.872309
PMCID: PMC2766080

Genes

KCNJ2

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

Protein kinase A-dependent biophysical phenotype for V227F-KCNJ2 mutation in catecholaminergic polymorphic ventricular tachycardia.PMID 19843922Read ↗

Biophysical and molecular characterization of a novel de novo KCNJ2 mutation associated with Andersen-Tawil syndrome and catecholaminergic polymorphic ventricular tachycardia mimicry.Semantic proximity Read ↗

KCNJ2 mutation causes an adrenergic-dependent rectification abnormality with calcium sensitivity and ventricular arrhythmia.Semantic proximity Read ↗

Reversible Dilated Cardiomyopathy Caused by a High Burden of Ventricular Arrhythmias in Andersen-Tawil Syndrome.Semantic proximity Read ↗

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome).Semantic proximity Read ↗

Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome)Semantic proximity Read ↗

Cardiac potassium inward rectifier Kir2: Review of structure, regulation, pharmacology, and arrhythmogenesis.Semantic proximity Read ↗

Dual Dysfunction of Kir2.1 Underlies Conduction and Excitation-Contraction Coupling Defects Promoting Arrhythmias in a Mouse Model of Andersen-Tawil Syndrome Type 1Semantic proximity Read ↗

Kir 2.1 channelopathies: the Andersen-Tawil syndrome.Semantic proximity Read ↗

Non dominant-negative KCNJ2 gene mutations leading to Andersen-Tawil syndrome with an isolated cardiac phenotype.Semantic proximity Read ↗

Long QT2 mutation on the Kv11.1 ion channel inhibits current activity by ablating a protein kinase Cα consensus site.Semantic proximity Read ↗

CaMKII Phosphorylation of RYR2 is Essential for Arrhythmia in CPVTSemantic proximity Read ↗

Identification and functional characterisation of a novel KCNJ2 mutation, Val302del, causing Andersen-Tawil syndrome.Semantic proximity Read ↗

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