Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Exploring genotype-phenotype correlation in nucleoporin nephropathy.
Pei Y et al.
Pediatric Research, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Nucleoporin-associated steroid-resistant nephrotic syndrome.
Yao L et al.
Pediatric Nephrology (berlin, Germany), 2025
Germline Whole-Exome Sequencing in Non-Smoker Lung Cancer Patients Reveals Pathogenic Variants in Lung Cancer Driver Genes.
Carapezza G et al.
Genes, Chromosomes & Cancer, 2025
The Spectrum of Disease-Associated Alleles in Countries with a Predominantly Slavic Population.
Yanus GA et al.
International Journal of Molecular Sciences, 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
Steroid-Resistant Nephrotic Syndrome Caused by NUP93 Pathogenic Variants.
Wasilewska A et al.
Journal of Clinical Medicine, 2023
A rare cause of steroid-resistant nephrotic syndrome - a case report.
Kuran P et al.
Central-european Journal of Immunology, 2023
Non-classical functions of nuclear pore proteins in ciliopathy.
Chen Y et al.
Frontiers in Molecular Biosciences, 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
Nucleoporin-93 reveals a common feature of aggressive breast cancers: robust nucleocytoplasmic transport of transcription factors.
Nataraj NB et al.
Cell Reports, 2022
Collapsing Focal Segmental Glomerulosclerosis in Siblings With Compound Heterozygous Variants in NUP93 Expand the Spectrum of Kidney Phenotypes Associated With Nucleoporin Gene Mutations.
Cason RK et al.
Frontiers in Pediatrics, 2022
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
Steroid-resistant nephrotic syndrome in infants caused by a novel compound heterozygous mutation of the NUP93: A CARE case report.
Zhao B et al.
Medicine, 2021
Distinct genomic subclasses of high-grade/progressive meningiomas: NF2-associated, NF2-exclusive, and NF2-agnostic.
Williams EA et al.
Acta Neuropathologica Communications, 2020
Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views.
Hejazian SM et al.
Expert Review of Clinical Pharmacology, 2020
In Vivo Expression of NUP93 and Its Alteration by NUP93 Mutations Causing Focal Segmental Glomerulosclerosis.
Hashimoto T et al.
Kidney International Reports, 2019
Biallelic Variants in the Nuclear Pore Complex Protein NUP93 Are Associated with Non-progressive Congenital Ataxia.
Zanni G et al.
Cerebellum (london, England), 2019
First Report of Recurrent Nephrotic Syndrome After Kidney Transplantation in a Patient With NUP93 Gene Mutations: A Case Report.
Seeman T et al.
Transplantation Proceedings, 2018
Genetic diagnosis of steroid-resistant nephrotic syndrome in a longitudinal collection of Czech and Slovak patients: a high proportion of causative variants in NUP93.
Bezdíčka M et al.
Pediatric Nephrology (berlin, Germany), 2018
Enrichment of Targetable Mutations in the Relapsed Neuroblastoma Genome.
Padovan-Merhar OM et al.
Plos Genetics, 2016
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Braun DA et al.
Nature Genetics, 2016