Mutations in nuclear pore genes NUP93, NUP205, and XPO5 cause steroid resistant nephrotic syndrome

Nucleoporins (NUPs) are essential components of the nuclear pore complex (NPC).(1) Only few diseases have been attributed to NPC dysfunction.(2-4) Steroid resistant nephrotic syndrome (SRNS), a frequent cause of chronic kidney disease, is caused by dysfunction of glomerular podocytes.(5) Here we ide...

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Vydáno v:Nat Genet
Hlavní autoři: Braun, Daniela A., Sadowski, Carolin E., Kohl, Stefan, Lovric, Svjetlana, Astrinidis, Susanne A., Pabst, Werner L., Gee, Heon Yung, Ashraf, Shazia, Lawson, Jennifer A., Shril, Shirlee, Airik, Merlin, Tan, Weizhen, Schapiro, David, Rao, Jia, Choi, Won-Il, Hermle, Tobias, Kemper, Markus J., Pohl, Martin, Ozaltin, Fatih, Konrad, Martin, Bogdanovic, Radovan, Büscher, Rainer, Helmchen, Udo, Serdaroglu, Erkin, Lifton, Richard P., Antonin, Wolfram, Hildebrandt, Friedhelm
Médium: Artigo
Jazyk:Inglês
Vydáno: 2016
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC4811732/
https://ncbi.nlm.nih.gov/pubmed/26878725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ng.3512
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