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

Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case report

13 Mar 2020

Abstract excerpt

Abstract Background The voltage-gated potassium channel Kv7.1 encoded by KCNQ1 is located in both cardiac myocytes and insulin producing beta cells. Loss-of-function mutations in KCNQ1 causes long QT syndrome along with glucose-stimulated hyperinsulinemia, increased C-peptide and postprandial hypoglycemia. The KCNE1 protein modulates Kv7.1 in cardiac myocytes, but is not expressed in beta cells. Gain-of-function...

Read the complete abstract on PubMed

Topics

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

Share to Cardiac electrophysiology and arrhythmias
Share to Ion channel regulation and function
Share to Pancreatic function and diabetes

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 32164657
DOI: 10.1186/s12902-020-0513-x

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Gain-of-function mutation in the voltage-gated potassium channel gene KCNQ1 and glucose-stimulated hypoinsulinemia - case reportPMID 32164657Read ↗

Celebrities in the heart, strangers in the pancreatic beta cell: Voltage-gated potassium channels Kv 7.1 and Kv 11.1 bridge long QT syndrome with hyperinsulinaemia as well as type 2 diabetes.Semantic proximity Read ↗

Exploring single nucleotide polymorphisms in the KCNQ1 gene associated with cardiac disordersSemantic proximity Read ↗

A missense <i>KCNQ1</i> Mutation Impairs Insulin Secretion in Neonatal DiabetesSemantic proximity Read ↗

Age-dependent transition from islet insulin hypersecretion to hyposecretion in mice with the long QT-syndrome loss-of-function mutation Kcnq1-A340V.Semantic proximity Read ↗

A novel stop-gain pathogenic variant in the KCNQ1 gene causing long QT syndrome 1.Semantic proximity Read ↗

A loss-of-function mutation in KCNJ11 causing sulfonylurea-sensitive diabetes in early adult life.Semantic proximity Read ↗

Kv7.1 (KCNQ1) properties and channelopathies.Semantic proximity Read ↗

Hyperinsulinemic Hypoglycemia Associated with a CaV1.2 Variant with Mixed Gain- and Loss-of-Function Effects.Semantic proximity Read ↗

Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function – Implications for Potential TherapiesSemantic proximity Read ↗

KCNQ1 gain-of-function mutation in familial atrial fibrillation.Semantic proximity Read ↗

A KCNQ1 mutation contributes to the concealed type 1 long QT phenotype by limiting the Kv7.1 channel conformational changes associated with protein kinase A phosphorylation.Semantic proximity Read ↗

Patients With Long-QT Syndrome Caused by Impaired hERG-Encoded Kv11.1 Potassium Channel Have Exaggerated Endocrine Pancreatic and Incretin Function Associated With Reactive Hypoglycemia.Semantic proximity Read ↗

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