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
Differences in kidney prognosis between congenital and infantile nephrotic syndrome.
Inoki Y et al.
Pediatric Nephrology (berlin, Germany), 2025
40095038 (PubMed )
Supplement: 467_2025_6735_MOESM2_ESM.docx
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
36917664 (PubMed )
Supplement: pnas.2214069120.sd02.xlsx › Dataset_S2
[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
The utility of urinary CD80 as a diagnostic marker in patients with renal diseases.
Minamikawa S et al.
Scientific Reports, 2018
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
26986070 (PubMed )
Supplement: pone.0151760.s001.xlsx › disease
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
Defective trafficking of nephrin missense mutants rescued by a chemical chaperone.
Liu XL et al.
Journal of the American Society of Nephrology : Jasn, 2004
Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome.
Liu L et al.
Human Molecular Genetics, 2001
Mutation spectrum in the nephrin gene (NPHS1) in congenital nephrotic syndrome.
Beltcheva O et al.
Human Mutation, 2001
Structure of the gene for congenital nephrotic syndrome of the finnish type (NPHS1) and characterization of mutations.
Lenkkeri U et al.
American Journal of Human Genetics, 1999
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