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

@article{Maecki1999MutationsIN,
  title={Mutations in NEUROD1 are associated with the development of type 2 diabetes mellitus},
  author={Maciej T. Małecki and U. S. Jhala and A. Antonellis and Liz Fields and A. Doria and T. Orb{\'a}n and M. Saad and J. Warram and M. Montminy and A. Krolewski},
  journal={Nature Genetics},
  year={1999},
  volume={23},
  pages={323-328}
}
  • Maciej T. Małecki, U. S. Jhala, +7 authors A. Krolewski
  • Published 1999
  • Biology, Medicine
  • Nature Genetics
    • 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 insulin gene (INS) expression by binding to a critical E-box motif on the INS… CONTINUE READING
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    References

    SHOWING 1-10 OF 25 REFERENCES
    No evidence of linkage or diabetes-associated mutations in the transcription factors BETA2/NEUROD1 and PAX4 in Type II diabetes in France
    • 35
    • PDF
    β-Cell Transcription Factors and Diabetes: Mutations in the Coding Region of the BETA2/NeuroD1 (NEUROD1) and Nkx2.2 (NKX2B) Genes Are Not Associated With Maturity-Onset Diabetes of the Young in Japanese
    • 36
    Mutations in the hepatocyte nuclear factor-1α gene in maturity-onset diabetes of the young (MODY3)
    • 1,465
    • PDF
    Mutations in the hepatocyte nuclear factor-4α gene in maturity-onset diabetes of the young (MODY1)
    • 915
    • PDF
    Characterization of the MODY3 phenotype. Early-onset diabetes caused by an insulin secretion defect.
    • 200
    • PDF
    Diabetes, defective pancreatic morphogenesis, and abnormal enteroendocrine differentiation in BETA2/neuroD-deficient mice.
    • 969
    • PDF
    The NeuroD1/BETA2 Sequences Essential for Insulin Gene Transcription Colocalize with Those Necessary for Neurogenesis and p300/CREB Binding Protein Binding
    • 83
    • PDF
    A gene for maturity onset diabetes of the young (MODY) maps to chromosome 12q
    • 214
    Molecular cloning and characterization of the gene encoding human NeuroD
    • 16
    p300 Mediates Transcriptional Stimulation by the Basic Helix-Loop-Helix Activators of the Insulin Gene
    • 145
    • PDF