Article
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
The Journal of clinical investigation - 1 Jun 2015
Gee Heon Yung, Zhang Fujian, Ashraf Shazia, Kohl Stefan, Sadowski Carolin E, Vega-Warner Virginia, Zhou Weibin, Lovric Svjetlana, Fang Humphrey, Nettleton Margaret, Zhu Jun-yi, Hoefele Julia, Weber Lutz T, Podracka Ludmila, Boor Andrej, Fehrenbach Henry, Innis Jeffrey W, Washburn Joseph, Levy Shawn, Lifton Richard P, Otto Edgar A, Han Zhe, Hildebrandt Friedhelm
Abstract excerpt
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, using homozygosity mapping and whole-exome sequencing, we identified recessive mutations in kidney ankyrin repeat-containing protein 1 (KANK1), KANK2, and KANK4...
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