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
Diagnostic utility of whole exome sequencing in pediatric and adult patients with suspected monogenic chronic kidney disease.
Amr KS et al.
Molecular Biology Reports, 2025
Steroid-Resistant Nephrotic Syndrome due to NPHS2 Variants Is Not Associated With Posttransplant Recurrence.
Kachmar J et al.
Kidney International Reports, 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
Molecular Genetic Analysis of Steroid Resistant Nephrotic Syndrome, Detection of a Novel Mutation.
Shojaei A et al.
Iranian Journal of Kidney Diseases, 2019
Whole-Exome Sequencing Enables a Precision Medicine Approach for Kidney Transplant Recipients.
Mann N et al.
Journal of the American Society of Nephrology : Jasn, 2019
The mutation-dependent pathogenicity of NPHS2 p.R229Q: A guide for clinical assessment.
Mikó Á et al.
Human Mutation, 2018
Genetic mutation in Egyptian children with steroid-resistant nephrotic syndrome.
Thomas MM et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2018
Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.
Mallett AJ et al.
Kidney International, 2017
Nephrin Contributes to Insulin Secretion and Affects Mammalian Target of Rapamycin Signaling Independently of Insulin Receptor.
Villarreal R et al.
Journal of the American Society of Nephrology : Jasn, 2016
Analysis of the genes responsible for steroid-resistant nephrotic syndrome and/or focal segmental glomerulosclerosis in Japanese patients by whole-exome sequencing analysis.
Ogino D et al.
Journal of Human Genetics, 2016
Dealing with the incidental finding of secondary variants by the example of SRNS patients undergoing targeted next-generation sequencing.
Weber S et al.
Pediatric Nephrology (berlin, Germany), 2016
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
Mutation-dependent recessive inheritance of NPHS2-associated steroid-resistant nephrotic syndrome.
Tory K et al.
Nature Genetics, 2014
NPHS2 mutations in steroid-resistant nephrotic syndrome: a mutation update and the associated phenotypic spectrum.
Bouchireb K et al.
Human Mutation, 2014
Gene mutations and steroid-resistant nephrotic syndrome.
Mahdavi-Mazdeh M
Iranian Journal of Kidney Diseases, 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
Genetic basis of congenital and infantile nephrotic syndromes.
Lee JH et al.
American Journal of Kidney Diseases : the Official Journal of the National Kidney Foundation, 2011
Molecular and genetic basis of inherited nephrotic syndrome.
Gigante M et al.
International Journal of Nephrology, 2011
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
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E et al.
Journal of the American Society of Nephrology : Jasn, 2010
R168H and V165X mutant podocin might induce different degrees of podocyte injury via different molecular mechanisms.
Fan Q et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2009
Nucleotide variations in the NPHS2 gene in Greek children with steroid-resistant nephrotic syndrome.
Megremis S et al.
Genetic Testing and Molecular Biomarkers, 2009
NPHS2 mutations in children with steroid-resistant nephrotic syndrome.
Otukesh H et al.
Iranian Journal of Kidney Diseases, 2009
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
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
NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.
Mao J et al.
Pediatric Research, 2007
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.
Ozçakar ZB et al.
Pediatric Nephrology (berlin, Germany), 2006
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 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
Genetic forms of nephrotic syndrome.
Niaudet P
Pediatric Nephrology (berlin, Germany), 2004
A novel mutation of NPHS2 identified in a Chinese family.
Yu Z et al.
Pediatric Nephrology (berlin, Germany), 2004
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
Infantile steroid-resistant nephrotic syndrome associated with double homozygous mutations of podocin.
Caridi G 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
[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
NPHS2 gene sequencing results in children of the Azerbaijani population with different types of nephrotic syndrome caused by chronic glomerulonephritis.
Baylarov R et al.
Bratislavske Lekarske Listy, 0
NPHS2 gene mutations in azerbaijani children with steroid-resistant nephrotic syndrome.
Baylarov R et al.
Saudi Journal of Kidney Diseases and Transplantation : an Official Publication of the Saudi Center for Organ Transplantation, Saudi Arabia, 0