Article
Homozygous mutations in NEUROD1 are responsible for a novel syndrome of permanent neonatal diabetes and neurological abnormalities.
Diabetes - 1 Sept 2010
Rubio-Cabezas Oscar, Minton Jayne A L, Kantor Iren, Williams Denise, Ellard Sian, Hattersley Andrew T
Abstract excerpt
OBJECTIVE: NEUROD1 is expressed in both developing and mature beta-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 diabetes of the young (MODY). We aimed to explore the potential contribution of NEUROD1 mutations in patients with...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.