Associated Papers
Adult-Onset Nephrotic Syndrome and Optic Nerve Atrophy Associated With NUP93 Mutation.
Scheen M et al.
Kidney Medicine, 2025
In steroid-resistant nephrotic syndrome that meets the strict definition, monogenic variants are less common than expected.
Ichikawa Y et al.
Pediatric Nephrology (berlin, Germany), 2024
39093455 (PubMed )
Supplement: 467_2024_6468_MOESM5_ESM.xlsx › Sheet1
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Zhang P et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
37931111 (PubMed )
Supplement: pnas.2314225120.sd01.xlsx › Dataset_S1._patho_AG-gain_var
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
Jühlen R et al.
Febs Letters, 2023
A rare cause of steroid-resistant nephrotic syndrome - a case report.
Kuran P et al.
Central-european Journal of Immunology, 2023
Exploring the relevance of NUP93 variants in steroid-resistant nephrotic syndrome using next generation sequencing and a fly kidney model.
Bierzynska A et al.
Pediatric Nephrology (berlin, Germany), 2022
Molecular assay for an intronic variant in NUP93 that causes steroid resistant nephrotic syndrome.
Rossanti R et al.
Journal of Human Genetics, 2019
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