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

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.

The Journal of clinical endocrinology and metabolism - 1 Dec 2015

Rozenkova Klara, Malikova Jana, Nessa Azizun, Dusatkova Lenka, Bjørkhaug Lise, Obermannova Barbora, Dusatkova Petra, Kytnarova Jitka, Aukrust Ingvild, Najmi Laeya A, Rypackova Blanka, Sumnik Zdenek, Lebl Jan, Njølstad Pål R, Hussain Khalid, Pruhova Stepanka

Abstract excerpt

CONTEXT: Congenital hyperinsulinism of infancy (CHI) represents a group of heterogeneous disorders characterized by oversecretion of insulin from pancreatic β-cells causing severe hypoglycemia. OBJECTIVE: We studied the distribution of genetic causes of CHI in a Czech population. METHODS: Countrywide collection of patients with CHI included 40 subjects (12 females, median age of diagnosis, 1 wk [interquartile...

Read the complete abstract on PubMed

Topics

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

Share to Congenital Hyperinsulinism
Share to Czech Republic

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Germinal Center Kinases

Share to Hepatocyte Nuclear Factor 1-alpha

Share to Hepatocyte Nuclear Factor 4

Share to Potassium Channels, Inwardly Rectifying

Share to Sulfonylurea Receptors

Share to Transcriptional Activation

Source

Identifiers

PMID: 26431509
DOI: 10.1210/jc.2015-2763

Genes

ABCC8
GCK
KCNJ11
GLUD1
HADH
UCP2

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

High Incidence of Heterozygous ABCC8 and HNF1A Mutations in Czech Patients With Congenital Hyperinsulinism.PMID 26431509Read ↗

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

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

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

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

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

Congenital hyperinsulinism: clinical and molecular analysis of a large Italian cohort.Semantic proximity Read ↗

Whole genome SNP genotyping and exome sequencing reveal novel genetic variants and putative causative genes in congenital hyperinsulinism.Semantic proximity Read ↗

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

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

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

Investigating Genetic Mutations in a Large Cohort of Iranian Patients with Congenital HyperinsulinismSemantic proximity Read ↗

Genotype and phenotype correlations in Iranian patients with hyperinsulinaemic hypoglycaemia.Semantic proximity Read ↗

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