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

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.

Frontiers in endocrinology - 1 Jan 2021

Jiang Feng, Yan Jing, Zhang Rong, Ma Xiaojing, Bao Yuqian, Gu Yujuan, Hu Cheng

Abstract excerpt

Background: Glucokinase (GCK) plays a central role in glucose regulation. The heterozygous mutations of GCK can cause a monogenic form of diabetes, maturity-onset diabetes of the young (MODY) directly. In our study, we aimed to explore the mechanism of the novel mutation GCK p.Ala259Thr leading to glucokinase deficiency and hyperglycemia. Methods: Thirty early-onset diabetes pedigrees were referred to whole exome...

Read the complete abstract on PubMed

Topics

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

Share to Asian People
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Exome Sequencing

Share to Glucokinase

Share to Heterozygote

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 34956103
DOI: 10.3389/fendo.2021.803992
PMCID: PMC8695754

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Functional Characterization of a Novel Heterozygous Mutation in the Glucokinase Gene That Causes MODY2 in Chinese Pedigrees.PMID 34956103Read ↗

Mutations in GCK May Lead to MODY2 by Reducing Glycogen Synthesis.Semantic proximity Read ↗

A novel pathogenic variant in the glucokinase gene found in two Japanese siblings with maturity-onset diabetes of the young 2.Semantic proximity Read ↗

Two novel GCK mutations in Chinese patients with maturity-onset diabetes of the young.Semantic proximity Read ↗

Analysis of mutations in the glucokinase gene in people clinically characterized as MODY2 without a family history of diabetes.Semantic proximity Read ↗

[The functional analysis of glucokinase gene E339K mutation].Semantic proximity Read ↗

Glucokinase (GCK) mutations and their characterization in MODY2 children of southern Italy.Semantic proximity Read ↗

Effects of novel maturity-onset diabetes of the young (MODY)-associated mutations on glucokinase activity and protein stability.Semantic proximity Read ↗

Functional analysis of human glucokinase gene mutations causing MODY2: exploring the regulatory mechanisms of glucokinase activity.Semantic proximity Read ↗

Genetic and bioinformatics analysis of four novel GCK missense variants detected in Caucasian families with GCK-MODY phenotype.Semantic proximity Read ↗

Identification and functional characterisation of novel glucokinase mutations causing maturity-onset diabetes of the young in Slovakia.Semantic proximity Read ↗

Precision Therapy for a Chinese Family With Maturity-Onset Diabetes of the Young.Semantic proximity Read ↗

Characterization of glucokinase mutations associated with maturity-onset diabetes of the young type 2 (MODY-2): different glucokinase defects lead to a common phenotype.Semantic proximity Read ↗

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