Article
Quantitative phenotyping of Nphs1 knockout mice as a prerequisite for gene replacement studies.
American journal of physiology. Renal physiology - 1 May 2024
Buerger Florian, Merz Lea M, Saida Ken, Yu Seyoung, Salmanullah Daanya, Lemberg Katharina, Mertens Nils D, Mansour Bshara, Kolvenbach Caroline M, Yousef Kirollos, Hölzel Selina, Braun Alina, Franken Gijs A C, Goncalves Kevin A, Steinsapir Andrew, Endlich Nicole, Schneider Ronen, Shril Shirlee, Hildebrandt Friedhelm
Abstract excerpt
Steroid-resistant nephrotic syndrome (SRNS) is the second most frequent cause of chronic kidney disease before the age of 25 yr. Nephrin, encoded by NPHS1, localizes to the slit diaphragm of glomerular podocytes and is the predominant structural component of the glomerular filtration barrier. Biallelic variants in NPHS1 can cause congenital nephrotic syndrome of the Finnish type, for which, to date, no causative...
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