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

[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].

Zhonghua nei ke za zhi - 1 Oct 2007

Li Cui-lan, Hu Da-yi, Liu Wen-ling, Qi Shu-ying, Wang Hong-tao, Li Lei, Gong Qiu-ming, Zhou Zheng-feng

Abstract excerpt

OBJECTIVE: To investigate the molecular pathogenesis for two novel mutations L413P and L559H of KCNH2 found in Chinese patients with long QT syndrome. METHODS: L413P and L559H mutant constructs were generated by site-directed mutagenesis using human wild-type (WT) pcDNA3-HERG cDNA as a template. WT and mutant constructs were transiently transfected into human embryonic kidney 293 cells using lipofectamine method....

Read the complete abstract on PubMed

Topics

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

Share to ERG1 Potassium Channel
Share to Ether-A-Go-Go Potassium Channels

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Long QT Syndrome

Share to Membrane Potentials

Share to Microscopy, Fluorescence

Share to Mutant Proteins

Share to Patch-Clamp Techniques

Share to Potassium Channels, Voltage-Gated

Source

Identifiers

PMID: 18218237

Genes

KCNH2

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

[The mechanistic rote of KCNH2 gene L413P and L559H mutations in long QT syndrome].PMID 18218237Read ↗

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

[Functional expression of congenital long QT syndrome related HERG mutation A561V in vitro].Semantic proximity Read ↗

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

Functional studies on three novel HCNH2 mutations in Taiwan: identification of distinct mechanisms of channel defect and dissociation between glycosylation defect and assembly defect.Semantic proximity Read ↗

Identification and characterization of two novel KCNH2 mutations contributing to long QT syndrome.Semantic proximity Read ↗

Clinical and electrophysiological characterization of a novel mutation R863X in HERG C-terminus associated with long QT syndrome.Semantic proximity Read ↗

Novel characteristics of a trafficking-defective G572R-hERG channel linked to hereditary 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 ↗

Translation reinitiation in c.453delC frameshift mutation of KCNH2 producing functional hERG K+ channels with mild dominant negative effect in the heterozygote patient-derived iPSC cardiomyocytes.Semantic proximity Read ↗

Sudden Death-Associated <i>KCNH2</i> Variants Have Opposing Effects on hERG1 <sub>NP</sub> FunctionSemantic proximity Read ↗

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

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

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