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

      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 (2016)
      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 ...