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
Exploring GBA1 gene in Parkinson's disease: Prevalence and variant spectrum from Asia minor.
Koç Yekedüz M et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2025
The MEC-2E isoform with a large C-terminal completely rescues the touch sensation defect of C. elegans.
Keszthelyi TM et al.
Scientific Reports, 2025
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 2024
Genetic testing in focal segmental glomerulosclerosis: in whom and when?
Tato AM et al.
Clinical Kidney Journal, 2023
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
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
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.
Shojaei A et al.
Iranian Journal of Kidney Diseases, 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
Screening of the LAMB2, WT1, NPHS1, and NPHS2 Genes in Pediatric Nephrotic Syndrome.
Abid A et al.
Frontiers in Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
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
NPHS2 p.V290M mutation in late-onset steroid-resistant nephrotic syndrome.
Kerti A et al.
Pediatric Nephrology (berlin, Germany), 2013
Anemia in congenital nephrotic syndrome: role of urinary copper and ceruloplasmin loss.
Niel O et al.
Blood, 2011
Familial forms of nephrotic syndrome.
Caridi G et al.
Pediatric Nephrology (berlin, Germany), 2010
NPHS2 variation in focal and segmental glomerulosclerosis.
Tonna SJ et al.
Bmc Nephrology, 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
Disease-causing missense mutations in NPHS2 gene alter normal nephrin trafficking to the plasma membrane.
Nishibori Y 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
Three siblings with steroid-resistant nephrotic syndrome: new NPHS2 mutations in a Turkish family.
Ekim M et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2004
Plasma membrane targeting of podocin through the classical exocytic pathway: effect of NPHS2 mutations.
Roselli S et al.
Traffic (copenhagen, Denmark), 2004
Genetic screening in children with challenging nephrotic syndrome.
Saeed B
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0