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

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

PloS one - 1 Jan 2012

Bonnefond Amélie, Philippe Julien, Durand Emmanuelle, Dechaume Aurélie, Huyvaert Marlène, Montagne Louise, Marre Michel, Balkau Beverley, Fajardy Isabelle, Vambergue Anne, Vatin Vincent, Delplanque Jérôme, Le Guilcher David, De Graeve Franck, Lecoeur Cécile, Sand Olivier, Vaxillaire Martine, Froguel Philippe

Abstract excerpt

BACKGROUND: Maturity-onset of the young (MODY) is a clinically heterogeneous form of diabetes characterized by an autosomal-dominant mode of inheritance, an onset before the age of 25 years, and a primary defect in the pancreatic beta-cell function. Approximately 30% of MODY families remain genetically unexplained (MODY-X). Here, we aimed to use whole-exome sequencing (WES) in a four-generation MODY-X family to...

Read the complete abstract on PubMed

Topics

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

Share to Chromosome Mapping
Share to Diabetes Mellitus, Type 2

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to France

Share to Lod Score

Share to Pedigree

Share to Potassium Channels, Inwardly Rectifying

Source

Open in PubMed Open full text

Identifiers

PMID: 22701567
DOI: 10.1371/journal.pone.0037423
PMCID: PMC3372463

Genes

KCNJ11
ABCC8
INS

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Whole-exome sequencing and high throughput genotyping identified KCNJ11 as the thirteenth MODY gene.PMID 22701567Read ↗

Monogenic Childhood Diabetes: Dissecting Clinical Heterogeneity by Next-Generation Sequencing in Maturity-Onset Diabetes of the Young.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 ↗

Study of ten causal genes in Turkish patients with clinically suspected maturity-onset diabetes of the young (MODY) using a targeted next-generation sequencing panel.Semantic proximity Read ↗

Next Generation Sequencing Analysis of MODY-X Patients: A Case Report SeriesSemantic proximity Read ↗

The Importance of Molecular Genetic Testing for Precision Diagnostics, Management, and Genetic Counseling in MODY Patients.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 ↗

Genetic Characterization of MODY in Iranian Families Using Multigenerational-Based Whole-Exome Sequencing Approach.Semantic proximity Read ↗

Whole exome sequencing reveals novel candidate gene variants for MODY.Semantic proximity Read ↗

Targeted next generation sequencing in patients with maturity-onset diabetes of the young (MODY)Semantic proximity Read ↗

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

Targeted sequencing identifies novel variants in common and rare MODY genesSemantic proximity Read ↗

Identification of Candidate Gene Variants in Korean MODY Families by Whole-Exome Sequencing.Semantic proximity Read ↗

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