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Article

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.

Nature genetics - 1 Nov 1999

Malecki M T, Jhala U S, Antonellis A, Fields L, Doria A, Orban T, Saad M, Warram J H, Montminy M, Krolewski A S

Abstract excerpt

The helix-loop-helix (HLH) protein NEUROD1 (also known as BETA2) functions as a regulatory switch for endocrine pancreatic development. In mice homozygous for a targeted disruption of Neurod, pancreatic islet morphogenesis is abnormal and overt diabetes develops due in part to inadequate expression of the insulin gene (Ins2). NEUROD1, following its heterodimerization with the ubiquitous HLH protein E47, regulates...

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Source

Identifiers

PMID: 10545951
DOI: 10.1038/15500

Genes

NEUROD1
INS

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus.PMID 10545951Read ↗

NeuroD: the predicted and the surprising.Semantic proximity Read ↗

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

NEUROD1 Is Required for the Early α and β Endocrine Differentiation in the PancreasSemantic proximity Read ↗

NeuroD1 in the endocrine pancreas: Localization and dual function as an activator and repressorSemantic proximity Read ↗

The Ala45Thr polymorphism of BETA2/NeuroD1 gene and susceptibility to type 2 diabetes mellitus in a Polish population.Semantic proximity Read ↗

Murine Perinatal β-Cell Proliferation and the Differentiation of Human Stem Cell–Derived Insulin-Expressing Cells Require NEUROD1Semantic proximity Read ↗

Insm1 cooperates with Neurod1 and Foxa2 to maintain mature pancreatic β-cell function.Semantic proximity Read ↗

NEUROD1: transcriptional and epigenetic regulator of human and mouse neuronal and endocrine cell lineage programsSemantic proximity Read ↗

Loss of CtBP2 may be a mechanistic link between metabolic derangements and progressive impairment of pancreatic β cell functionSemantic proximity Read ↗

Cre/loxP-mediated inactivation of the bHLH transcription factor gene NeuroD/BETA2.Semantic proximity Read ↗

Ophthalmological phenotype associated with homozygous null mutation in the NEUROD1 gene.Semantic proximity Read ↗

Defects in the cerebella of conditional Neurod1 null mice correlate with effective Tg(Atoh1-cre) recombination and granule cell requirements for Neurod1 for differentiation.Semantic proximity Read ↗

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