A Novel Patient-Derived Mutation in Glucocorticoid Receptor Reveals an Essential Role for DNA binding in Development and Endocrine Regulation
Theophilus T. Tettey, Qizong Lao, Sonal Vaid, Sohyoung Kim, Lyuba Varticovski, Vipula Kolli, Deborah P. Merke, Gordon L. Hager
The paper identifies a novel GR mutation causing partial glucocorticoid resistance and shows its impact on development and endocrine regulation through patient-derived cells and a knock-in mouse model.
bioRxiv · Dec 13, 2025 · PreprintGenetics