Associated Papers
Exploring genotype-phenotype correlation in nucleoporin nephropathy.
Pei Y et al.
Pediatric Research, 2025
Novel biallelic NUP107 variants affect the nuclear pore complex and expand the clinical spectrum to include brain malformations.
Bonde LD et al.
Journal of Medical Genetics, 2025
Nucleoporins cooperate with Polycomb silencers to promote transcriptional repression and repair at DNA double-strand breaks.
Song H et al.
Proceedings of the National Academy of Sciences of the United States of America, 2025
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
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
NUP107 mutations in children with steroid-resistant nephrotic syndrome.
Park E et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2017
Biallelic Mutations in Nuclear Pore Complex Subunit NUP107 Cause Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome.
Miyake N et al.
American Journal of Human Genetics, 2015
Select a paper to view details