Gee HY, Zhang F, Ashraf S, Kohl S, Sadowski CE, Vega-Warner V, Zhou W, Lovric S, Fang H, Nettleton M, Zhu JY, Hoefele J, Weber LT, Podracka L, Boor A, Fehrenbach H, Innis JW, Washburn J, Levy S, Lifton RP, Otto EA, Han Z, Hildebrandt F. KANK deficiency leads to podocyte dysfunction and nephrotic syndrome. J Clin Invest. 2015 May 11. pii: 79504. PMID: 25961457.
From the abstract: "Steroid-resistant nephrotic syndrome (SRNS) is a frequent cause of
progressive renal function decline and affects millions of people. In a
recent study, 30% of SRNS cases evaluated were the result of monogenic
mutations in 1 of 27 different genes. Here, ... we identified recessive mutations in kidney
ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4 in
individuals with nephrotic syndrome. In an independent functional
genetic screen of Drosophila cardiac nephrocytes, which are equivalents of mammalian podocytes, we determined that the Drosophila
KANK homolog (dKank) is essential for nephrocyte function. ..."
No comments:
Post a Comment