Homozygous Mutations in NEUROD1 Are Responsible for a Novel Syndrome of Permanent Neonatal Diabetes and Neurological Abnormalities

OBJECTIVE: NEUROD1 is expressed in both developing and mature β-cells. Studies in mice suggest that this basic helix-loop-helix transcription factor is critical in the development of endocrine cell lineage. Heterozygous mutations have previously been identified as a rare cause of maturity-onset diab...

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Hlavní autoři: Rubio-Cabezas, Oscar, Minton, Jayne A.L., Kantor, Iren, Williams, Denise, Ellard, Sian, Hattersley, Andrew T.
Médium: Artigo
Jazyk:Inglês
Vydáno: American Diabetes Association 2010
Témata:
Genetics
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC2927956/
https://ncbi.nlm.nih.gov/pubmed/20573748
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.2337/db10-0011
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