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

doi:10.1038/ng.3512

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Article

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

Nature genetics - 1 Apr 2016

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

Abstract excerpt

Nucleoporins are essential components of the nuclear pore complex (NPC). Only a few diseases have been attributed to NPC dysfunction. Steroid-resistant nephrotic syndrome (SRNS), a frequent cause of chronic kidney disease, is caused by dysfunction of glomerular podocytes. Here we identify in eight families with SRNS mutations in NUP93, its interaction partner NUP205 or XPO5 (encoding exportin 5) as hitherto...

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Identifiers

PMID: 26878725
DOI: 10.1038/ng.3512
PMCID: PMC4811732

Genes

NUP93
SMAD4
XPO5
BMP7

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.PMID 26878725Read ↗

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