Domain-specific mechanisms of YAP1 variants in ocular coloboma revealed by in-vitro and organoid studies
Srishti Silvano, Van Annika Zean Rick-Lenze, James Bagnall, M Saravanakumar, Xinyu Yang, Robert Lea, Lindsay Birchall, Julie R. Jones, Jessica Michaud Davis, Jacob Sampson, Milena Zitnik-Sergeant, Anzy Miller, Rachel E. Jennings, Elliot S. Stolerman, Jamie M. Ellingford, , Cerys S Manning
The paper investigates YAP1 variants' role in ocular coloboma using in vitro and organoid studies, showing how missense variants affect YAP1-TEAD binding and transcriptional activity.
Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease · Apr 6, 2026Peer-reviewedDevelopmental Biology