… nephrotic syndromes are attributed to monogenic disorders that involve 27 genes. Mutations
in KANK family members have also been linked to nephrotic … -deficient human podocytes. …

… podocyte functions. However, it remains unclear how these mutations disrupt the function of
KANK proteins and consequently lead to … linked the SF mutation-induced defects in podocyte …

… phenotype as changes to the balance of the activity of the small GTPases lead to hypo-
or hyper-motility of podocytes resulting in proteinuria 7 . This was recently demonstrated in …

… driving proteinuria and kidney dysfunction. In this review, we … single-gene defects lead to
podocyte injury and ultimately … monogenic causes of nephrotic syndrome and furthered our …

… The mortality rate linked with nephrotic syndrome (NS) is quite high. The renal tubular injury
influences the … KANK deficiency leads to podocyte dysfunction and nephrotic syndrome[J] …

… in podocytes, mice developed congenital nephrotic syndrome [63… INF2, KANK, and Rhophilin-1
appear to protect podocytes … loss of ARHGEF7 in podocytes caused cell apoptosis due to …

… A hallmark feature of nephrotic syndrome is the loss of podocyte … KANK 1/2/4 genes
encoding kidney ankyrin repeat-… for CoQ 10 deficiency–related nephrotic syndrome and aHUS. …

… crucial for the function of the podocyte, a highly specialized epithelial cell … defect believed
to be a circulating permeability factor of lymphocyte origin that secondarily leads to podocyte …

… role of TBC1D8B, we undertook functional studies in both zebrafish and human podocytes.
… in mutated podocytes harboring the p.Phe291Ser mutation suggesting an endocytosis defect. …

… Research on podocyte pathophysiology is crucial due to their function and their lack of … the
successful cloning from patients with Congenital Nephrotic Syndrome of the Finnish type (CNF…