Article
Super-Resolution Imaging of the Filtration Barrier Suggests a Role for Podocin R229Q in Genetic Predisposition to Glomerular Disease.
Journal of the American Society of Nephrology : JASN - 1 Jan 2022
Butt Linus, Unnersjö-Jess David, Höhne Martin, Hahnfeldt Robert, Reilly Dervla, Rinschen Markus M, Plagmann Ingo, Diefenhardt Paul, Brähler Sebastian, Brinkkötter Paul T, Brismar Hjalmar, Blom Hans, Schermer Bernhard, Benzing Thomas
Abstract excerpt
BACKGROUND: Diseases of the kidney's glomerular filtration barrier are a leading cause of end stage renal failure. Despite a growing understanding of genes involved in glomerular disorders in children, the vast majority of adult patients lack a clear genetic diagnosis. The protein podocin p.R229Q, which results from the most common missense variant in NPHS2, is enriched in cohorts of patients with FSGS. However,...
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