Associated Papers
Nucleoporin-associated steroid-resistant nephrotic syndrome.
Yao L et al.
Pediatric Nephrology (berlin, Germany), 2025
Mutations in the NUP93, NUP107 and NUP160 genes cause steroid-resistant nephrotic syndrome in Chinese children.
Han Y et al.
Italian Journal of Pediatrics, 2024
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
NUP133 Controls Nuclear Pore Assembly, Transcriptome Composition, and Cytoskeleton Regulation in Podocytes.
Rogg M et al.
Cells, 2022
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Fujita A et al.
Annals of Neurology, 2018
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