Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model

Autor: Agnieszka Bierzynska, Katherine Bull, Sara Miellet, Philip Dean, Chris Neal, Elizabeth Colby, Hugh J. McCarthy, Shivaram Hegde, Manish D. Sinha, Carmen Bugarin Diz, Kathleen Stirrups, Karyn Megy, Rutendo Mapeta, Chris Penkett, Sarah Marsh, Natalie Forrester, Maryam Afzal, Hannah Stark, NIHR BioResource, Maggie Williams, Gavin I. Welsh, Ania B. Koziell, Paul S. Hartley, Moin A. Saleem

Publikováno v: Bierzynska, A, Bull, K, Miellet, S, Dean, P, Neal, C, Colby, E, McCarthy, H J, Hegde, S, Sinha, M D, Bugarin Diz, C, Stirrups, K, Megy, K, Mapeta, R, Penkett, C, Marsh, S, Forrester, N, Afzal, M, Stark, H, BioResource, N, Williams, M, Welsh, G I, Koziell, A B, Hartley, P S & Saleem, M A 2022, ' Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model ', Pediatric Nephrology, vol. 37, no. 11, pp. 2643-2656 . https://doi.org/10.1007/s00467-022-05440-5
Pediatric Nephrology

Background Variants in genes encoding nuclear pore complex (NPC) proteins are a newly identified cause of paediatric steroid-resistant nephrotic syndrome (SRNS). Recent reports describing NUP93 variants suggest these could be a significant cause of p

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