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
Transgenic human nephrin in Drosophila nephrocytes facilitates variant analysis.
Wolff JM et al.
Kidney International, 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
Endoplasmic reticulum-associated degradation is required for nephrin maturation and kidney glomerular filtration function.
Yoshida S et al.
The Journal of Clinical Investigation, 2021
Expression Pattern of α-Tubulin, Inversin and Its Target Dishevelled-1 and Morphology of Primary Cilia in Normal Human Kidney Development and Diseases.
Solic I et al.
International Journal of Molecular Sciences, 2021
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Glomeruli from patients with nephrin mutations show increased number of ciliated and poorly differentiated podocytes.
Vukojevic K et al.
Acta Histochemica, 2018
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
Serrano-Perez MC et al.
The Journal of Biological Chemistry, 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
Novel and known nephrin gene (NPHS1) mutations in two Greek cases with congenital nephrotic syndrome including a complex genotype.
Fylaktou I et al.
Journal of Genetics, 2013
Nephrin missense mutations: induction of endoplasmic reticulum stress and cell surface rescue by reduction in chaperone interactions.
Drozdova T et al.
Physiological Reports, 2013
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
Genetic forms of nephrotic syndrome: a single-center experience in Brussels.
Ismaili K et al.
Pediatric Nephrology (berlin, Germany), 2009
Nephrin mutations can cause childhood-onset steroid-resistant nephrotic syndrome.
Philippe A et al.
Journal of the American Society of Nephrology : Jasn, 2008
Gene symbol: NPHS1. Disease: Congenital nephrotic syndrome, Finnish type.
Tikhomirov E et al.
Human Genetics, 2008
Gross proteinuria post transplant in a child with nephrotic syndrome of the Finnish type--mechanical vs immunological pathogenesis.
Lorton F et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2006
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
Nishibori Y et al.
Kidney International, 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