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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Publicado en:Nat Genet
Autores principales: 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
Formato: Artigo
Lenguaje:Inglês
Publicado: 2016
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Article
Acceso en línea: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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