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
Exome Sequencing in Saudi Arabian Pediatric Kidney Disease Single-Center Cohort.
Lemberg K et al.
Kidney International Reports, 2025
Implementation of a Kidney Genetic Service Into the Diagnostic Pathway for Patients With Chronic Kidney Disease in Canada.
Schott C et al.
Kidney International Reports, 2025
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
Estimation of the Age of the Kashubian-Specific Pathogenic NPHS2 Variant Responsible for Hereditary Steroid-Resistant Nephrotic Syndrome Points to Its Recent Local Origin.
Jankowski M et al.
Human Mutation, 2024
Comprehensive Genetic Analysis of Druze Provides Insights into Carrier Screening.
Avnat E et al.
Genes, 2023
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
Exome sequencing unravels genetic variants associated with chronic kidney disease in Saudi Arabian patients.
Al-Hamed MH et al.
Human Mutation, 2022
Spectrum of NPHS1 and NPHS2 variants in egyptian children with focal segmental glomerular sclerosis: identification of six novel variants and founder effect.
Thomas MM et al.
Molecular Genetics and Genomics : Mgg, 2022
High detection rate for disease-causing variants in a cohort of 30 Iranian pediatric steroid resistant nephrotic syndrome cases.
Najafi M et al.
Frontiers in Pediatrics, 2022
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
Next-generation sequencing in patients with familial FSGS: first report of collagen gene mutations in Tunisian patients.
Ammar S et al.
Journal of Human Genetics, 2021
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.
Shojaei A et al.
Iranian Journal of Kidney Diseases, 2019
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN et al.
World Journal of Pediatrics : Wjp, 2019
Targeted next-generation sequencing as a comprehensive test for Mendelian diseases: a cohort diagnostic study.
Sun Y et al.
Scientific Reports, 2018
C-terminal oligomerization of podocin mediates interallelic interactions.
Stráner P et al.
Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2018
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
Abid A et al.
Frontiers in Genetics, 2018
NPHS2 Mutations: A Closer Look to Latin American Countries.
Guaragna MS et al.
Biomed Research International, 2017
In silico Structural characterization of podocin and assessment of nephrotic syndrome-associated podocin mutants.
Mulukala SK et al.
Iubmb Life, 2016
A single-gene cause in 29.5% of cases of steroid-resistant nephrotic syndrome.
Sadowski CE et al.
Journal of the American Society of Nephrology : Jasn, 2015
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
Dai Y et al.
Renal Failure, 2014
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Genetic screening in adolescents with steroid-resistant nephrotic syndrome.
Lipska BS et al.
Kidney International, 2013
A molecular genetic analysis of childhood nephrotic syndrome in a cohort of Saudi Arabian families.
Al-Hamed MH et al.
Journal of Human Genetics, 2013
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A et al.
Pediatric Nephrology (berlin, Germany), 2013
Novel mutations in steroid-resistant nephrotic syndrome diagnosed in Tunisian children.
Mbarek IB et al.
Pediatric Nephrology (berlin, Germany), 2011
NPHS2 variation in focal and segmental glomerulosclerosis.
Tonna SJ et al.
Bmc Nephrology, 2008
Specific podocin mutations correlate with age of onset in steroid-resistant nephrotic syndrome.
Hinkes B et al.
Journal of the American Society of Nephrology : Jasn, 2008
Electronic microarray screening of podocin mutations: a single-center study.
Sakallioglu O et al.
International Urology and Nephrology, 2008
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
Berdeli A et al.
Pediatric Nephrology (berlin, Germany), 2007
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.
Ozçakar ZB et al.
Pediatric Nephrology (berlin, Germany), 2006
Late onset of familial nephrotic syndrome associated with a compound heterozygous mutation of the podocin-encoding gene.
Ardiles LG et al.
Nephrology (carlton, Vic.), 2005
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 2005
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
Caridi G et al.
Pediatric Research, 2005
A novel mutation of NPHS2 identified in a Chinese family.
Yu Z et al.
Pediatric Nephrology (berlin, Germany), 2004
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
[A novel mutation of NPHS2 identified in a Chinese family with steroid-resistant nephrotic syndrome].
Yu ZH et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2004
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Roselli S et al.
Traffic (copenhagen, Denmark), 2004
Recurrence of focal segmental glomerulosclerosis after renal transplantation in patients with mutations of podocin.
Bertelli R et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2003
Broadening the spectrum of diseases related to podocin mutations.
Caridi G et al.
Journal of the American Society of Nephrology : Jasn, 2003
Serum glomerular permeability activity in patients with podocin mutations (NPHS2) and steroid-resistant nephrotic syndrome.
Carraro M et al.
Journal of the American Society of Nephrology : Jasn, 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
Prevalence, genetics, and clinical features of patients carrying podocin mutations in steroid-resistant nonfamilial focal segmental glomerulosclerosis.
Caridi G et al.
Journal of the American Society of Nephrology : Jasn, 2001
NPHS2, encoding the glomerular protein podocin, is mutated in autosomal recessive steroid-resistant nephrotic syndrome.
Boute N et al.
Nature Genetics, 2000