Wolff, J. M., Lang, K., Chen, M., ...., Walz, G., Abed, A., Gerstner, L., Bahar, S., Ulbrich, M. H., Hermle, T. (2025). Transgenic human nephrin in Drosophila nephrocytes facilitates variant analysis. Kidney Int, 108(1):57-73 www.kidney-international.org/article/S008...
Nephrin, the key structural protein of the slit diaphragm, is encoded by NPHS1. Pathogenic
variants in this gene are the primary cause of congenital nephrotic syndrome. About
400 variants have been de...