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

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.

The Journal of clinical endocrinology and metabolism - 1 Nov 2020

Auerbach Adi, Cohen Amitay, Ofek Shlomai Noa, Weinberg-Shukron Ariella, Gulsuner Suleyman, King Mary-Claire, Hemi Rina, Levy-Lahad Ephrat, Abulibdeh Abdulsalam, Zangen David

Abstract excerpt

CONTEXT: NKX2-2 is a crucial transcription factor that enables specific β-cell gene expression. Nkx2-2(-/-) mice manifest with severe neonatal diabetes and changes in β-cell progenitor fate into ghrelin-producing cells. In humans, recessive NKX2-2 gene mutations have been recently reported as a novel etiology for neonatal diabetes, with only 3 cases known worldwide. This study describes the genetic analysis,...

Read the complete abstract on PubMed

Topics

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

Share to Diabetes Mellitus
Share to Exome Sequencing

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Ghrelin

Share to Homeodomain Proteins

Share to Infant, Very Low Birth Weight

Share to Nuclear Proteins

Share to Pediatric Obesity

Share to Zebrafish Proteins

Source

Identifiers

PMID: 32818257
DOI: 10.1210/clinem/dgaa563

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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

NKX2-2 Mutation Causes Congenital Diabetes and Infantile Obesity With Paradoxical Glucose-Induced Ghrelin Secretion.PMID 32818257Read ↗

Human NKX2.2 influences islet endocrine cell fate choices through regulation of WNT pathway genesSemantic proximity Read ↗

A novel stop-loss mutation in NKX2-2 gene as a cause of neonatal diabetes mellitus: molecular characterization and structural analysis.Semantic proximity Read ↗

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

Kir6.2 Mutations Are a Common Cause of Permanent Neonatal Diabetes in a Large Cohort of French PatientsSemantic proximity Read ↗

Loss of function variants in the primate-specific gene ZNF808 cause neonatal, transient and adult-onset diabetes.Semantic proximity Read ↗

Identification of the ACTB p.Ser348Leu de novo variant in individuals with syndromic neonatal diabetes.Semantic proximity Read ↗

Distinct Gene Expression Programs Function in Progenitor and Mature Islet CellsSemantic proximity Read ↗

Mice lacking the homeodomain transcription factor Nkx2.2 have diabetes due to arrested differentiation of pancreatic beta cells.Semantic proximity Read ↗

Novel FOXA2 mutation causes Hyperinsulinism, Hypopituitarism with Craniofacial and Endoderm-derived organ abnormalities.Semantic proximity Read ↗

Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.Semantic proximity Read ↗

Permanent Neonatal diabetes-causing Insulin mutations have dominant negative effects on beta cell identitySemantic proximity Read ↗

Congenital Hyperinsulinism and Hypopituitarism Attributable to a Mutation in FOXA2.Semantic proximity Read ↗

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