CAKUT variants in PRPF8, DYRK2, and CEP78: implications for splicing and ciliogenesis
Lea Maria Merz, Shirlee Shril, Tucker J. Carrocci, Csenge K. Rezi, Natalie J Zeps, Rafael Jiménez‐Izquierdo, Florian Bergmann, Narcis-Adrian Petriman, Caroline Maria Kolvenbach, Nils David Mertens, Søren L. Johansen, Jan Halbritter, Alina Christine Hilger, Shaikh Qureshi Wasay Mohiuddin, Kathryn E. Hentges, , Friedhelm Hildebrandt
The paper identifies variants in PRPF8 and related genes associated with CAKUT, showing their role in splicing and ciliogenesis through functional experiments.
bioRxiv · Jul 16, 2025 · PreprintGenetics