KANK deficiency leads to podocyte dysfunction and nephrotic syndrome

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 seq...

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Vydáno v:J Clin Invest
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2015
Témata:
Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4497755/
https://ncbi.nlm.nih.gov/pubmed/25961457
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI79504
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