Associated Papers
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Sinonasal adenosquamous carcinomas arising in seromucinous hamartoma or respiratory epithelial adenomatoid hamartoma with atypical features: Report of five detailed clinicopathological and molecular characterisation of rare entity.
Bradová M et al.
Histopathology, 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
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
Introducing Exome Sequencing as Part of the Diagnostic Algorithm for Pediatric Nephrology Patients in Bulgaria: A Single-Center Experience.
Beltcheva O et al.
Nephron, 2024
Functional and Molecular Heterogeneity in Glioma Stem Cells Derived from Multiregional Sampling.
Brynjulvsen M et al.
Cancers, 2023
From the sideline: Tissue-specific nucleoporin function in health and disease, an update.
Jühlen R et al.
Febs Letters, 2023
Renal neuroendocrine tumors: clinical and molecular pathology with an emphasis on frequent association with ectopic Cushing syndrome.
Kasajima A et al.
Virchows Archiv : an International Journal of Pathology, 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
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
Identification of recurrent pathogenic alleles using exome sequencing data: Proof-of-concept study of Russian subjects.
Orlov IE et al.
European Journal of Medical Genetics, 2022
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
Steroid-resistant nephrotic syndrome: pharmacogenetics and epigenetic points and views.
Hejazian SM et al.
Expert Review of Clinical Pharmacology, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
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
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
Mutations in nuclear pore genes NUP93, NUP205 and XPO5 cause steroid-resistant nephrotic syndrome.
Braun DA et al.
Nature Genetics, 2016