Article

A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes

2024-07-24

Abstract excerpt

In a patient with permanent neonatal syndromic diabetes clinically similar to cases with ONECUT1 biallelic mutations, we identified a disease-causing deletion located upstream of ONECUT1. Through genetic, genomic and functional studies we identified a crucial regulatory region acting as an enhancer of ONECUT1 specifically during pancreatic development. This enhancer region contains a low-frequency variant showing...

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Literature Corpus work: f1735d30-da7b-5517-bb9f-85b91f116213
DOI: 10.1101/2024.07.23.24310605

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