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

Agnieszka BierzynskaKatherine BullSara MielletPhilip DeanChris NealElizabeth ColbyHugh J McCarthyShivaram HegdeManish D SinhaCarmen Bugarin DizKathleen StirrupsKaryn MegyRutendo MapetaChris PenkettSarah MarshNatalie ForresterMaryam AfzalHannah StarkNihr BioResourceMaggie WilliamsGavin I WelshAnia B KoziellPaul S HartleyMoin A Saleem

Published in: Pediatric nephrology (Berlin, Germany) (2022)

We expand the spectrum of NUP93 variants detected in paediatric onset SRNS and demonstrate its incidence within a national cohort. Silencing of either D. melanogaster Nup93 ortholog caused a severe nephrocyte phenotype, signaling an important role for the nucleoporin complex in podocyte biology. A higher resolution version of the Graphical abstract is available as Supplementary information.

Keyphrases

copy number
intensive care unit
emergency department
risk factors
quality improvement
early onset
genome wide
single molecule
dna methylation
health information
psychometric properties
high glucose
circulating tumor