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

A novel KCNH2 mutation as a modifier for short QT interval.

International journal of cardiology - 11 Sept 2009

Itoh Hideki, Sakaguchi Tomoko, Ashihara Takashi, Ding Wei-Guang, Nagaoka Iori, Oka Yuko, Nakazawa Yuko, Yao Takenori, Jo Hikari, Ito Makoto, Nakamura Kazufumi, Ohe Tohru, Matsuura Hiroshi, Horie Minoru

Abstract excerpt

In a 34-year-old man showing short QT interval (QTc 329 ms), we identified a novel C-terminal KCNH2 mutation, R1135H. Using a heterologous expression system with CHO cells, the mutant channels were found to display a significantly slow deactivation, which resulted in a gain-of-function for reconstituted 'I(Kr)' channels. This mutation could modify clinical phenotypes for this patient.

Read the complete abstract on PubMed

Topics

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

Share to Arrhythmias, Cardiac
Share to Brugada Syndrome

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to CHO Cells

Share to Cricetinae

Share to Cricetulus

Share to ERG1 Potassium Channel

Share to Ether-A-Go-Go Potassium Channels

Share to Pedigree

Source

Identifiers

PMID: 18692916
DOI: 10.1016/j.ijcard.2008.05.050

Genes

KCNH2

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.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A novel KCNH2 mutation as a modifier for short QT interval.PMID 18692916Read ↗

A novel mutation in the KCNH2 gene associated with short QT syndrome.Semantic proximity Read ↗

Biophysical characterization of the short QT mutation hERG-N588K reveals a mixed gain-and loss-of-function.Semantic proximity Read ↗

<i>KCNJ2</i> mutation in short QT syndrome 3 results in atrial fibrillation and ventricular proarrhythmiaSemantic proximity Read ↗

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

Modulation of I(Kr) inactivation by mutation N588K in KCNH2: a link to arrhythmogenesis in short QT syndrome.Semantic proximity Read ↗

A novel form of short QT syndrome (SQT3) is caused by a mutation in the KCNJ2 gene.Semantic proximity Read ↗

Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in Patient with Brugada Syndrome and Mild QTc ShorteningSemantic proximity Read ↗

An Interdomain KCNH2 Mutation Produces an Intermediate Long QT Syndrome.Semantic proximity Read ↗

Reclassification of a likely pathogenic Dutch founder variant in KCNH2; implications of reduced penetranceSemantic proximity Read ↗

Variable Clinical Appearance of the Kir2.1 Rare Variants in Russian Patients with Long QT Syndrome.Semantic proximity Read ↗

Novel Gain-of-Function Mutation in the Kv11.1 Channel Found in the Patient with Brugada Syndrome and Mild QTc ShorteningSemantic proximity Read ↗

A novel gain-of-function KCNJ2 mutation associated with short-QT syndrome impairs inward rectification of Kir2.1 currents.Semantic proximity Read ↗

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