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- Titel:
A ONECUT1 regulatory, non-coding region in pancreatic development and diabetes.
- Dokumenttyp:
- Journal Article
- Autor(en):
- Merz, Sarah; Senée, Valérie; Philippi, Anne; Oswald, Franz; Shaigan, Mina; Führer, Marita; Drewes, Cosima; Allgöwer, Chantal; Öllinger, Rupert; Heni, Martin; Boland, Anne; Deleuze, Jean-François; Birkhofer, Franziska; Gusmao, Eduardo G; Wagner, Martin; Hohwieler, Meike; Breunig, Markus; Rad, Roland; Siebert, Reiner; Messerer, David Alexander Christian; Costa, Ivan G; Alvarez, Fernando; Julier, Cécile; Kleger, Alexander; Heller, Sandra
- Abstract:
- 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 a strong association with type 2 diabetes and other glycemic traits, thus extendi... »
- Zeitschriftentitel:
- Cell Rep
- Jahr:
- 2024
- Band / Volume:
- 43
- Heft / Issue:
- 11
- Volltext / DOI:
- doi:10.1016/j.celrep.2024.114853
- PubMed:
- http://view.ncbi.nlm.nih.gov/pubmed/39427318
- Print-ISSN:
- 2211-1247
- TUM Einrichtung:
- Professur für Molekulare Onkologie und Funktionelle Genomik (Prof. Rad)
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