Mutations in ACTN4, encoding α-actinin-4, cause familial focal segmental glomerulosclerosis
By J. Kaplan, S. H. Kim, K. North, H. Rennke, L. A. Correia, H. Tong, B. J. Mathis, J. Rodriguez-Perez, P. G. Allen, Alan H. Beggs and 1 more. Nature Genetics, 2000
1,153 citations recorded by the source corpus.
Subfields: Molecular Biology, Nephrology
View Paper: https://www.semanticscholar.org/paper/836c31287f5cfd503466df2be26a669dcff3eced
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- Genetic and cell biological analysis of integrin outside-in signaling. (2009, background): “…is essential for kidney function both in mice and in humans by strengthening the adhesion of podocytes to the glomerular basement membrane (Kaplan et al. 2000; Kos et al. 2003; Dandapani et al. 2007). a-actinin-4 also localizes to the slit diaphragm where it binds to nephrin (Lehtonen et…”