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

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.

European journal of endocrinology - 1 Jun 2011

Park So Eun, Flanagan Sarah E, Hussain Khalid, Ellard Sian, Shin Choong Ho, Yang Sei Won

Abstract excerpt

OBJECTIVE: Congenital hyperinsulinism (CHI) is characterized by persistent hypoglycemia due to the inappropriate insulin secretion. Inactivating mutations in the ABCC8 and KCNJ11 genes, which encode the sulfonylurea receptor 1 and Kir6.2 subunits of the ATP-sensitive K(+) (K(ATP)) channel in pancreatic β-cell, are the most common cause of CHI. We studied the genetic etiology and phenotypes of CHI in Korean...

Read the complete abstract on PubMed

Topics

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

Share to ATP-Binding Cassette Transporters
Share to Diazoxide

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diuretics

Share to Hyperinsulinism

Share to Potassium Channels, Inwardly Rectifying

Share to Receptors, Drug

Share to Republic of Korea

Share to Sulfonylurea Receptors

Source

Identifiers

PMID: 21422196
DOI: 10.1530/EJE-11-0160

Genes

ABCC8
KCNJ11

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

Characterization of ABCC8 and KCNJ11 gene mutations and phenotypes in Korean patients with congenital hyperinsulinism.PMID 21422196Read ↗

Clinical characteristics and phenotype-genotype analysis in Turkish patients with congenital hyperinsulinism; predominance of recessive KATP channel mutations.Semantic proximity Read ↗

Genetic and Clinical Characterisation of Congenital Hyperinsulinism: Identification of a Novel ABCC8 Variant.Semantic proximity Read ↗

Clinical and genetic evaluation of patients with KATP channel mutations from the German registry for congenital hyperinsulinism.Semantic proximity Read ↗

Clinical and molecular characterisation of 300 patients with congenital hyperinsulinism.Semantic proximity Read ↗

Characterization of the ABCC8 gene mutation and phenotype in patients with congenital hyperinsulinism in western Saudi Arabia.Semantic proximity Read ↗

Clinical and genetic characterization of congenital hyperinsulinism in Spain.Semantic proximity Read ↗

Novel ABCC8 (SUR1) gene mutations in Asian Indian children with congenital hyperinsulinemic hypoglycemia.Semantic proximity Read ↗

Congenital hyperinsulinism in Chinese patients: 5-yr treatment outcome of 95 clinical cases with genetic analysis of 55 cases.Semantic proximity Read ↗

Update of variants identified in the pancreatic β-cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.Semantic proximity Read ↗

Novel dominant KATP channel mutations in infants with congenital hyperinsulinism: Validation by in vitro expression studies and in vivo carrier phenotypingSemantic proximity Read ↗

Genetics of congenital hyperinsulinism.Semantic proximity Read ↗

The spectrum of ABCC8 mutations in Norwegian patients with congenital hyperinsulinism of infancy.Semantic proximity Read ↗

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