Associated Papers
Congenital and infantile nephrotic syndrome: genotype-phenotype associations.
Islam MS et al.
Pediatric Research, 2025
Perinatal Stroke and Cerebral Sinovenous Thrombosis Caused by Congenital Nephrotic Syndrome NPSH1 (Finnish Type): A Case Report.
Oldenmark BOV et al.
Neuropediatrics, 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
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
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Integration of Genetic Testing and Pathology for the Diagnosis of Adults with FSGS.
Yao T et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2019
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
Analysis of 24 genes reveals a monogenic cause in 11.1% of cases with steroid-resistant nephrotic syndrome at a single center.
Tan W et al.
Pediatric Nephrology (berlin, Germany), 2018
Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling.
Cooper CJ et al.
Plos One, 2018
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
Targeted next-generation sequencing in steroid-resistant nephrotic syndrome: mutations in multiple glomerular genes may influence disease severity.
Bullich G et al.
European Journal of Human Genetics : Ejhg, 2015
Clinico-pathological correlations of congenital and infantile nephrotic syndrome over twenty years.
Kari JA et al.
Pediatric Nephrology (berlin, Germany), 2014
Immunosuppression and renal outcome in congenital and pediatric steroid-resistant nephrotic syndrome.
Büscher AK et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2010
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
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Ismaili K et al.
Pediatric Nephrology (berlin, Germany), 2009
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
No evidence for genotype/phenotype correlation in NPHS1 and NPHS2 mutations.
Schultheiss M et al.
Pediatric Nephrology (berlin, Germany), 2004
Genetic forms of nephrotic syndrome.
Niaudet P
Pediatric Nephrology (berlin, Germany), 2004
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