Associated Papers
Congenital and infantile nephrotic syndrome: genotype-phenotype associations.
Islam MS et al.
Pediatric Research, 2025
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
Protein domains provide a new layer of information for classifying human variations in rare diseases.
Corcuff M et al.
Frontiers in Bioinformatics, 2023
Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
Yoshida S et al.
The Journal of Clinical Investigation, 2021
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
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
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
Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
Uysal B et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Kari JA et al.
Pediatric Nephrology (berlin, Germany), 2014
Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions.
Drozdova T et al.
Physiological Reports, 2013
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
Wu LQ et al.
Genetics and Molecular Research : Gmr, 2011
[Updates on the molecular genetics of congenital nephrotic syndrome].
Zhang HW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
Nephrin gene (NPHS1) in patients with minimal change nephrotic syndrome (MCNS).
Lahdenkari AT et al.
Kidney International, 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
Congenital nephrotic syndrome (NPHS1): features resulting from different mutations in Finnish patients.
Patrakka J et al.
Kidney International, 2000
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
Phenotype/genotype correlations in the ultrastructure of monogenetic glomerular diseases.
Liapis H et al.
Ultrastructural Pathology, 0
Molecular pathology of nephrotic syndrome in childhood: a contemporary approach to diagnosis.
Liapis H
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0