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

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.

Medicine - 30 Sept 2022

Song Xinjie, Cao Yonghong, Ye Jun, Dai Wu, Zhang Suwan, Ye Shuai

Abstract excerpt

INTRODUCTION: Maturity-onset diabetes of the young (MODY) is an autosomal dominant monogenic diabetes. We report a pair of father and son diagnosed as MODY13 with a new mutation c.685G>A:p.E229K in the inwardly rectifying subfamily J, member 11 (KCNJ11) gene. CASE PRESENTATION: A pair of father and son was examined after admission to the hospital and a whole exome test performed. Whole exome test showed that...

Read the complete abstract on PubMed

Topics

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

Share to Blood Glucose
Share to Diabetes Mellitus, Type 2
Share to Mutation

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

Share to Potassium Channels, Inwardly Rectifying

Source

Open in PubMed Open full text

Identifiers

PMID: 36181023
DOI: 10.1097/MD.0000000000030668
PMCID: PMC9524910

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.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new mutation c.685G>A:p.E229K in the KCNJ11 gene: A case report of maturity-onset diabetes of the young13.PMID 36181023Read ↗

A synonymous variant in KCNJ11 leading to MODY13: a case report and literature reviewSemantic proximity Read ↗

Clinical and functional characterization of a novel KCNJ11 (c.101G > A, p.R34H) mutation associated with maturity-onset diabetes mellitus of the young type 13.Semantic proximity Read ↗

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.Semantic proximity Read ↗

Clinical and genetic characteristics of maturity-onset diabetes of the young type 13: A systematic review of the literature.Semantic proximity Read ↗

Pedigree Analysis of Maturity-Onset Diabetes of the Young: ABCC8 Mutations?Semantic proximity Read ↗

Genetic and Clinical Characterization of Patients with Maturity-Onset of Diabetes of the Young (MODY): Identification of Novel Variations.Semantic proximity Read ↗

Study of Thirteen Causal Genes in Turkish Patients with Clinically Suspected Maturity-Onset Diabetes of the Young (MODY) using a Targeted Next-Generation Sequencing PanelSemantic proximity Read ↗

KCNJ11 (p.Arg192Cys)-associated MODY13 with coexisting autoimmunity in a child, a case report.Semantic proximity Read ↗

HNF1A gene mutation (c.811del, p.Arg271Glyfs) causing maturity onset of diabetes of the young 3: a case study of an Indian patientSemantic proximity Read ↗

Phenotypic features, prevalence of KCNJ11-MODY in Chinese patients with early-onset diabetes and a literature review.Semantic proximity Read ↗

Utilizing the KCNJ11 Gene Mutations in Spotting Egyptian Patients With Permanent Neonatal Diabetes Who Can Benefit From Treatment Shift.Semantic proximity Read ↗

Precision Diagnosis of Maturity-Onset Diabetes of the Young with Next-Generation Sequencing: Findings from the MODY-IST Study in Adult Patients.Semantic proximity Read ↗

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