Associated Papers
Pathogenic podocin variants exhibit distinct defects in trafficking, membrane organization, and degradation pathways.
Lu PC et al.
European Journal of Cell Biology, 2026
Whole-Exome Sequencing for Molecular Diagnosis of Paediatric Nephrotic Syndrome in Africa: A Call for Implementation.
Gcobo T et al.
Genes, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.
Huang Q et al.
Human Genomics, 2024
Genetic testing in pediatric kidney transplant recipients to promote informed choice and improve individualized monitoring.
Feng Y et al.
Orphanet Journal of Rare Diseases, 2024
Increased risk of kidney failure in patients with genetic kidney disorders.
Elliott MD et al.
The Journal of Clinical Investigation, 2024
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 2024
A multicenter study investigating the genetic analysis of childhood steroid-resistant nephrotic syndrome: Variants in COL4A5 may not be coincidental.
Li S et al.
Plos One, 2024
Kidney Organoids Generated Using an Allelic Series of NPHS2 Point Variants Reveal Distinct Intracellular Podocin Mistrafficking.
Dorison A et al.
Journal of the American Society of Nephrology : Jasn, 2023
Genomic analyses of 10,376 individuals in the Westlake BioBank for Chinese (WBBC) pilot project.
Cong PK et al.
Nature Communications, 2022
Multicenter study on the genetics of glomerular diseases among southeast and south Asians: Deciphering Diversities - Renal Asian Genetics Network (DRAGoN).
Lu L et al.
Clinical Genetics, 2022
Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.
Mansilla MA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2021
Prevalence of NPHS2 gene R229Q polymorphism in Bangladeshi children with nephrotic syndrome.
Jyoti SS et al.
Heliyon, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Beyond Panel-Based Testing: Exome Analysis Increases Sensitivity for Diagnosis of Genetic Kidney Disease.
Wilson PC et al.
Kidney360, 2020
Familial Focal Segmental Glomerulosclerosis With Late-Onset Presentation and R229Q/R291W Podocin Mutations.
Riguetti MTP et al.
Frontiers in Genetics, 2020
Value of renal gene panel diagnostics in adults waiting for kidney transplantation due to undetermined end-stage renal disease.
Ottlewski I et al.
Kidney International, 2019
A Systematic Analysis of Major Susceptible Genes in Childhood-onset Steroid-resistant Nephrotic Syndrome.
Li Y et al.
Annals of Clinical and Laboratory Science, 2019
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Mikó Á et al.
Human Mutation, 2018
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 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
Mutation spectrum of genes associated with steroid-resistant nephrotic syndrome in Chinese children.
Wang Y et al.
Gene, 2017
Genomic and clinical profiling of a national nephrotic syndrome cohort advocates a precision medicine approach to disease management.
Bierzynska A et al.
Kidney International, 2017
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
Analysis of polymorphism in renin angiotensin system and other related genes in South Indian chronic kidney disease patients.
Anbazhagan K et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2009
Clinical and epidemiological assessment of steroid-resistant nephrotic syndrome associated with the NPHS2 R229Q variant.
Machuca E et al.
Kidney International, 2009
NPHS2 variation in focal and segmental glomerulosclerosis.
Tonna SJ et al.
Bmc Nephrology, 2008
NPHS2 variation in sporadic focal segmental glomerulosclerosis.
McKenzie LM et al.
Journal of the American Society of Nephrology : Jasn, 2007
Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected].
Caridi G et al.
Transplantation Proceedings, 2006
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 2005
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.
Dusel JA et al.
Kidney International, 2005
Mutations in NPHS2 in sporadic steroid-resistant nephrotic syndrome in Chinese children.
Yu Z et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2005
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
Caridi G et al.
Pediatric Research, 2005
[Steroid-resistant nephrotic syndrome and NPHS2 gene].
Yu ZH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
Nishibori Y et al.
Kidney International, 2004
In vivo expression of podocyte slit diaphragm-associated proteins in nephrotic patients with NPHS2 mutation.
Zhang SY et al.
Kidney International, 2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
Patients with mutations in NPHS2 (podocin) do not respond to standard steroid treatment of nephrotic syndrome.
Ruf RG et al.
Journal of the American Society of Nephrology : Jasn, 2004
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Roselli S et al.
Traffic (copenhagen, Denmark), 2004
NPHS2 mutations in late-onset focal segmental glomerulosclerosis: R229Q is a common disease-associated allele.
Tsukaguchi H et al.
The Journal of Clinical Investigation, 2002
Novel mutations in NPHS2 detected in both familial and sporadic steroid-resistant nephrotic syndrome.
Karle SM et al.
Journal of the American Society of Nephrology : Jasn, 2002
[Characterization of the NPH2 gene, coding for the glomerular protein podocin, implicated in a familial form of cortico-resistant nephrotic syndrome transmitted as an autosomal recessive].
Boute N et al.
Nephrologie, 2002
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N et al.
Nature Genetics, 2000