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

An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.

Circulation research - 1 Mar 2013

Jou Chuanchau J, Barnett Spencer M, Bian Jian-Tao, Weng H Cindy, Sheng Xiaoming, Tristani-Firouzi Martin

Abstract excerpt

RATIONALE: Genetic testing for Long QT Syndrome is now a standard and integral component of clinical cardiology. A major obstacle to the interpretation of genetic findings is the lack of robust functional assays to determine the pathogenicity of identified gene variants in a high-throughput manner. OBJECTIVE: The goal of this study was to design and test a high-throughput in vivo cardiac assay to distinguish...

Read the complete abstract on PubMed

Topics

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

Share to Ether-A-Go-Go Potassium Channels
Share to Gene Knockdown Techniques

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to High-Throughput Screening Assays

Share to Long QT Syndrome

Share to Predictive Value of Tests

Share to Zebrafish

Share to Zebrafish Proteins

Source

Open in PubMed Open full text

Identifiers

PMID: 23303164
DOI: 10.1161/CIRCRESAHA.112.300664
PMCID: PMC4479126

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

An in vivo cardiac assay to determine the functional consequences of putative long QT syndrome mutations.PMID 23303164Read ↗

Zebrafish model for human long QT syndrome.Semantic proximity Read ↗

Utility of Zebrafish Models of Acquired and Inherited Long QT SyndromeSemantic proximity Read ↗

Functional analysis of KCNH2 gene mutations of type 2 long QT syndrome in larval zebrafish using microscopy and electrocardiography.Semantic proximity Read ↗

A Functional Assay for Sick Sinus Syndrome Genetic Variants.Semantic proximity Read ↗

Functional Genomics in Zebrafish as a Tool to Identify Novel Antiarrhythmic TargetsSemantic proximity Read ↗

Impact of functional studies on exome sequence variant interpretation in early-onset cardiac conduction system diseases.Semantic proximity Read ↗

Zebrafish as a model for long QT syndrome: the evidence and the means of manipulating zebrafish gene expressionSemantic proximity Read ↗

The utility of zebrafish cardiac arrhythmia model to predict the pathogenicity of KCNQ1 variants.Semantic proximity Read ↗

A transgenic zebrafish model of a human cardiac sodium channel mutation exhibits bradycardia, conduction-system abnormalities and early death.Semantic proximity Read ↗

Isogenic Sets of hiPSC-CMs Harboring Distinct KCNH2 Mutations Differ Functionally and in Susceptibility to Drug-Induced Arrhythmias.Semantic proximity Read ↗

Novel chemical suppressors of long QT syndrome identified by an in vivo functional screen.Semantic proximity Read ↗

Adult and Developing Zebrafish as Suitable Models for Cardiac Electrophysiology and Pathology in Research and IndustrySemantic proximity Read ↗

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