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

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.

JOP : Journal of the pancreas - 8 Jan 2010

Edghill Emma L, Minton Jayne A L, Groves Christopher J, Flanagan Sarah E, Patch Ann-Marie, Rubio-Cabezas Oscar, Shepherd Maggie, Lenzen Sigurd, McCarthy Mark I, Ellard Sian, Hattersley Andrew T

Abstract excerpt

CONTEXT: Approximately 39% of cases with permanent neonatal diabetes (PNDM) and about 11% with maturity onset diabetes of the young (MODY) have an unknown genetic aetiology. Many of the known genes causing MODY and PNDM were identified as being critical for beta cell function before their identif...

Read the complete abstract on PubMed

Topics

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

Share to Transcription Factors
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Diabetes Mellitus

Share to DNA Mutational Analysis

Share to Homeodomain Proteins

Share to Insulin-Secreting Cells

Share to Nuclear Proteins

Share to Young Adult

Source

Identifiers

PMID: 20065546

Genes

ISL1
LMX1A
MAFA
PAX4
PAX6
SOX2
SYT9
UCP2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-20065546-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Sequencing of candidate genes selected by beta cell experts in monogenic diabetes of unknown aetiology.PMID 20065546Read ↗

Genetic and clinical heterogeneity of permanent neonatal diabetes mellitus: a single tertiary centre experience.Semantic proximity Read ↗

Phenotypic heterogeneity in monogenic diabetes: the clinical and diagnostic utility of a gene panel-based next-generation sequencing approach.Semantic proximity Read ↗

Diverse and rare candidate MODY gene variants were identified in one-fifth of a Bangladeshi cohort with nonobese, nonautoimmune youth-onset diabetes.Semantic proximity Read ↗

Many faces of monogenic diabetesSemantic proximity Read ↗

Statistical evidence for high-penetrance MODY-causing genes in a large population-based cohort.Semantic proximity Read ↗

Neonatal diabetes mellitus around the world: Update 2024.Semantic proximity Read ↗

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.Semantic proximity Read ↗

The Role of ONECUT1 Variants in Monogenic and Type 2 Diabetes Mellitus.Semantic proximity Read ↗

Evaluation of evidence for pathogenicity demonstrates that<i>BLK, KLF11</i>and<i>PAX4</i>should not be included in diagnostic testing for MODYSemantic proximity Read ↗

Entities and frequency of neonatal diabetes: data from the diabetes documentation and quality management system (DPV).Semantic proximity Read ↗

Screening for extremely rare pathogenic variants of monogenic diabetes using targeted panel sequencing.Semantic proximity Read ↗

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

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