{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Bierzynska A"],"funding":["Kidney Research UK","British Heart Foundation","Medical Research Council","National Institute for Health Research (NIHR)"],"pagination":["2643-2656"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC9489583"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["37(11)"],"pubmed_abstract":["<h4>Background</h4>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 paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte model.<h4>Methods</h4>Three hundred thirty-seven paediatric SRNS patients from the National cohort of patients with Nephrotic Syndrome (NephroS) were whole exome and/or whole genome sequenced. Patients were screened for over 70 genes known to be associated with Nephrotic Syndrome (NS). D. melanogaster Nup93 knockdown was achieved by RNA interference using nephrocyte-restricted "],"journal":["Pediatric nephrology (Berlin, Germany)"],"pubmed_title":["Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model."],"pmcid":["PMC9489583"],"funding_grant_id":["PDF_005_20171124","MR/RO13942/1","MR/R007748/1","IN10/2015","MR/R013942/1","RG65966"],"pubmed_authors":["Williams M","Stark H","Marsh S","Welsh GI","Bierzynska A","Afzal M","Koziell AB","Hegde S","Sinha MD","McCarthy HJ","BioResource N","Megy K","Neal C","Mapeta R","Penkett C","Colby E","Miellet S","Dean P","Saleem MA","Stirrups K","Bull K","Forrester N","Hartley PS","Bugarin Diz C"],"additional_accession":[]},"is_claimable":false,"name":"Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.","description":"<h4>Background</h4>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 paediatric onset SRNS. We report NUP93 cases in the UK and demonstrate in vivo functional effects of Nup93 depletion in a fly (Drosophila melanogaster) nephrocyte model.<h4>Methods</h4>Three hundred thirty-seven paediatric SRNS patients from the National cohort of patients with Nephrotic Syndrome (NephroS) were whole exome and/or whole genome sequenced. Patients were screened for over 70 genes known to be associated with Nephrotic Syndrome (NS). D. melanogaster Nup93 knockdown was achieved by RNA interference using nephrocyte-restricted ","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Nov","modification":"2025-04-26T22:02:05.669Z","creation":"2025-04-06T17:06:03.704Z"},"accession":"S-EPMC9489583","cross_references":{"pubmed":["35211795"],"doi":["10.1007/s00467-022-05440-5"]}}