Article
Quantifiable and reproducible phenotypic assessment of a constitutive knockout mouse model for congenital nephrotic syndrome of the Finnish type.
Scientific reports - 10 Jul 2024
Lemberg Katharina, Mertens Nils D, Yousef Kirollos, Schneider Ronen, Merz Lea M, Mansour Bshara, Salmanullah Daanya, Kolvenbach Caroline M, Saida Ken, Yu Seyoung, Hölzel Selina, Steinsapir Andrew, Goncalves Kevin A, Nicolas Frank Camille, Franken Gijs A C, Shril Shirlee, Buerger Florian, Hildebrandt Friedhelm
Abstract excerpt
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of childhood chronic kidney disease. Congenital nephrotic syndrome of the Finnish type (CNF) (MIM# 256300) is caused by biallelic variants in the gene NPHS1, encoding nephrin, an integral component of the kidney filtration barrier. No causal treatments exist, and children inevitably require kidney replacement therapy. In preparation for...
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