Human organoid modeling of congenital malformations caused by RFX6 mutations reveal an essential role for this transcription factor in establishing and maintaining duodenal identity upstream of PDX1
Jefferson G. Sanchez, Scott Rankin, Emily Paul, Heather A. McCauley, Daniel O. Kechele, Jacob R. Enriquez, Nana‐Hawa Yayah Jones, Siri Atma W. Greeley, Lisa Letourneau-Friedberg, Aaron M. Zorn, Mansa Krishnamurthy, James M. Wells
This study uses human organoids to show RFX6 mutations cause duodenal malformations by disrupting PDX1 and other signaling pathways.
bioRxiv · Nov 9, 2023 · PreprintDevelopmental Biology