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

Genotype-phenotype aspects of type 2 long QT syndrome.

Journal of the American College of Cardiology - 24 Nov 2009

Shimizu Wataru, Moss Arthur J, Wilde Arthur A M, Towbin Jeffrey A, Ackerman Michael J, January Craig T, Tester David J, Zareba Wojciech, Robinson Jennifer L, Qi Ming, Vincent G Michael, Kaufman Elizabeth S, Hofman Nynke, Noda Takashi, Kamakura Shiro, Miyamoto Yoshihiro, Shah Samit, Amin Vinit, Goldenberg Ilan, Andrews Mark L, McNitt Scott

Abstract excerpt

OBJECTIVES: The purpose of this study was to investigate the effect of location, coding type, and topology of KCNH2(hERG) mutations on clinical phenotype in type 2 long QT syndrome (LQTS). BACKGROUND: Previous studies were limited by population size in their ability to examine phenotypic effect o...

Read the complete abstract on PubMed

Topics

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

Share to Codon, Nonsense
Share to ERG1 Potassium Channel

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ether-A-Go-Go Potassium Channels

Share to Long QT Syndrome

Share to Membrane Potentials

Share to Mutation, Missense

Share to Proportional Hazards Models

Share to Protein Structure, Secondary

Source

Open in PubMed Open full text

Identifiers

PMID: 19926013
DOI: 10.1016/j.jacc.2009.08.028
PMCID: PMC2808400

Genes

KCNH2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-19926013-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Genotype-phenotype aspects of type 2 long QT syndrome.PMID 19926013Read ↗

Topological Distribution of KCNH2 Variants and Genotype-Phenotype Relationship in Patients With Long QT Syndrome.Semantic proximity Read ↗

Mutation and gender-specific risk in type 2 long QT syndrome: implications for risk stratification for life-threatening cardiac events in patients with long QT syndrome.Semantic proximity Read ↗

Clinical aspects of type-1 long-QT syndrome by location, coding type, and biophysical function of mutations involving the KCNQ1 gene.Semantic proximity Read ↗

Risk Stratification of Type 2 Long-QT Syndrome Mutation Carriers With Normal QTc Interval: The Value of Sex, T-Wave Morphology, and Mutation Type.Semantic proximity Read ↗

Non-missense variants ofKCNH2show better outcomes in type 2 long QT syndromeSemantic proximity Read ↗

Mutation site dependent variability of cardiac events in Japanese LQT2 form of congenital long-QT syndrome.Semantic proximity Read ↗

Location of mutation in the KCNQ1 and phenotypic presentation of 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 ↗

Loss-of-Function KCNE2 Variants: True Monogenic Culprits of Long-QT Syndrome or Proarrhythmic Variants Requiring Secondary Provocation?Semantic proximity Read ↗

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

Clinical and molecular genetic risk determinants in adult long QT syndrome type 1 and 2 patients : Koponen et al. Follow-up of adult LQTS patients.Semantic proximity Read ↗

A Phenotype-Enhanced Variant Classification Framework to Decrease the Burden of Variants of Uncertain Significance in Type 2 Long QT Syndrome.Semantic proximity Read ↗

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