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
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
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
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
TERT promoter hotspot mutations and gene amplification in metaplastic breast cancer.
da Silva EM et al.
Npj Breast Cancer, 2021
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.
Shojaei A et al.
Iranian Journal of Kidney Diseases, 2019
Endoplasmic reticulum-retained podocin mutants are massively degraded by the proteasome.
Serrano-Perez MC et al.
The Journal of Biological Chemistry, 2018
Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children.
Joshi BB et al.
Gene, 2017
NPHS2 Mutations: A Closer Look to Latin American Countries.
Guaragna MS et al.
Biomed Research International, 2017
TRPC6 channel as an emerging determinant of the podocyte injury susceptibility in kidney diseases.
Ilatovskaya DV et al.
American Journal of Physiology. Renal Physiology, 2015
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
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
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015
NPHS2 mutation analysis and primary nephrotic syndrome in southern Indians.
Jaffer A et al.
Nephrology (carlton, Vic.), 2014
A disease-causing mutation illuminates the protein membrane topology of the kidney-expressed prohibitin homology (PHB) domain protein podocin.
Schurek EM et al.
The Journal of Biological Chemistry, 2014
Structural characterization and mutational assessment of podocin - a novel drug target to nephrotic syndrome - an in silico approach.
Tabassum A et al.
Interdisciplinary Sciences, Computational Life Sciences, 2014
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Does NPHS1 polymorphism modulate P118l mutation in NPHS2?
Dincel N et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 2013
Podocin mutations in a patient with congenital nephrotic syndrome and cardiac malformation.
Sönmez F et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2008
NPHS2 variation in focal and segmental glomerulosclerosis.
Tonna SJ et al.
Bmc Nephrology, 2008
Eye involvement in children with primary focal segmental glomerulosclerosis.
Ozaltin F et al.
Pediatric Nephrology (berlin, Germany), 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
[Heterozygotic mutation in NPHS2 gene as a cause of familial steroid resistant nephrotic syndrome in two siblings--case report].
Drozdz D et al.
Przeglad Lekarski, 2006
NPHS2 (Podocin) mutations in nephrotic syndrome. Clinical spectrum and fine mechanisms.
Caridi G et al.
Pediatric Research, 2005
A novel NPHS2 gene mutation in Turkish children with familial steroid-resistant nephrotic syndrome.
Ozer EA et al.
Nephrology (carlton, Vic.), 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
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