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
Nucleoporin-associated steroid-resistant nephrotic syndrome.
Yao L et al.
Pediatric Nephrology (berlin, Germany), 2025
Expanding the spectrum of novel candidate genes using trio exome sequencing and identification of monogenic cause in 27.5% of 320 families with steroid-resistant nephrotic syndrome.
Schneider R et al.
Genes & Diseases, 2025
Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.
Kliche J et al.
Molecular Systems Biology, 2024
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
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
Jühlen R et al.
Febs Letters, 2023
Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.
AlAbdi L et al.
Nature Communications, 2023
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
Homozygous splicing mutation in NUP133 causes Galloway-Mowat syndrome.
Fujita A et al.
Annals of Neurology, 2018
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun DA et al.
The Journal of Clinical Investigation, 2018
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
Homozygous mutation in NUP107 leads to microcephaly with steroid-resistant nephrotic condition similar to Galloway-Mowat syndrome.
Rosti RO et al.
Journal of Medical Genetics, 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
Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM et al.
Cell Reports, 2015
Novel LAGE3 Pathogenic Variants Combined with TRPC6 and NUP160 Variants in Galloway-Mowat Syndrome: A Case Report.
Huang L et al.
Case Reports in Nephrology and Dialysis, 0