Associated Papers
Establishing a nanoluciferase-based assay as a high-throughput screening platform for therapeutics in congenital nephrotic syndrome.
Tsuhako H et al.
Journal of Pharmacological Sciences, 2025
Clinical Presentation, Genetic Testing, and Outcome of Congenital Nephrotic Syndrome in KwaZulu-Natal, South Africa.
Bhimma R et al.
Nephron, 2025
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Differences in kidney prognosis between congenital and infantile nephrotic syndrome.
Inoki Y 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
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Genetic analysis and outcomes of Omani children with steroid-resistant nephrotic syndrome.
Al Riyami MS et al.
Molecular Genetics & Genomic Medicine, 2023
Classification of domains in predicted structures of the human proteome.
Schaeffer RD et al.
Proceedings of the National Academy of Sciences of the United States of America, 2023
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
The implementation and utility of clinical exome sequencing in a South African infant cohort.
Campbell L et al.
Frontiers in Genetics, 2023
Impaired NEPHRIN localization in kidney organoids derived from nephrotic patient iPS cells.
Ohmori T et al.
Scientific Reports, 2021
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L et al.
Frontiers in Medicine, 2021
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Comprehensive genetic diagnosis of Japanese patients with severe proteinuria.
Nagano C et al.
Scientific Reports, 2020
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
Clinical genetic testing using a custom-designed steroid-resistant nephrotic syndrome gene panel: analysis and recommendations.
Sen ES et al.
Journal of Medical Genetics, 2017
Congenital nephrotic syndrome with a novel NPHS1 mutation.
Yoshizawa C et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2016
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed MH et al.
Journal of Human Genetics, 2013
Genetic basis of congenital and infantile nephrotic syndromes.
Lee JH et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
Mbarek IB et al.
Pediatric Nephrology (berlin, Germany), 2011
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
Lee BH et al.
Journal of Korean Medical Science, 2009
Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.
Heeringa SF et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2008
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
Philippe A et al.
Journal of the American Society of Nephrology : Jasn, 2008
Analysis of NPHS1, NPHS2, ACTN4, and WT1 in Japanese patients with congenital nephrotic syndrome.
Sako M et al.
Kidney International, 2005
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001