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

Functional characterization and allele-specific RNA interference-based rescue of KCNH2 p.F68C variant associated with long QT syndrome.

Molecular genetics and genomics : MGG - 19 May 2026

Zhao Miao, Han Meng, Li Wenjuan, Wang Zhijie, Chen Li, Zeng Hanyu, Zhou Ziqi, Hu Dongping, Cheng Yu, Wang Qing, Ke Tie

Abstract excerpt

Long QT syndrome (LQTS) is an inherited life-threatening cardiac disorder characterized by delayed ventricular repolarization and increased risk of malignant arrhythmias. Among its subtypes, long QT syndrome type 2 (LQT2) is primarily caused by pathogenic variants in KCNH2, which encodes the human ether-à-go-go-related gene (hERG) potassium channel responsible for the rapid delayed rectifier current (IKr)....

Read the complete abstract on PubMed

Topics

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

Share to Alleles
Share to ERG1 Potassium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to KCNH2 gene

Share to HEK293 Cells

Share to Long QT Syndrome

Share to RNA Interference

Source

Identifiers

PMID: 42154296
DOI: 10.1007/s00438-026-02442-y

Genes

KCNH2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional characterization and allele-specific RNA interference-based rescue of KCNH2 p.F68C variant associated with long QT syndrome.PMID 42154296Read ↗

A Novel KCNH2 S981fs Mutation Identified by Whole-Exome Sequencing Is Associated with Type 2 Long QT Syndrome.Semantic proximity Read ↗

Long QT Syndrome Type 2: Emerging Strategies for Correcting Class 2 KCNH2 (hERG) Mutations and Identifying New PatientsSemantic proximity Read ↗

Molecular and functional characterization of common polymorphisms in HERG (KCNH2) potassium channels.Semantic proximity Read ↗

Molecular pathogenesis of long QT syndrome type 2Semantic proximity Read ↗

Elevated heart rate triggers action potential alternans and sudden death. translational study of a homozygous KCNH2 mutation.Semantic proximity Read ↗

Partially dominant mutant channel defect corresponding with intermediate LQT2 phenotype.Semantic proximity Read ↗

Trafficking defect and proteasomal degradation contribute to the phenotype of a novel KCNH2 long QT syndrome mutation.Semantic proximity Read ↗

Rescue of mutated cardiac ion channels in inherited arrhythmia syndromes.Semantic proximity Read ↗

RNA interference targeting E637K mutation rescues hERG channel currents and restores its kinetic properties.Semantic proximity Read ↗

A novel mutation in KCNH2 yields loss-of-function of hERG potassium channel in long QT syndrome 2.Semantic proximity Read ↗

HERG trafficking and pharmacological rescue of LQTS-2 mutant channels.Semantic proximity Read ↗

Novel intracellular transport-refractory mutations in KCNH2 identified in patients with symptomatic long QT syndrome.Semantic proximity Read ↗

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