Associated Papers
A Rare NPHS2 Mutation (E130K) in Hereditary Steroid-Resistant Nephrotic Syndrome: A Case Report.
Mujahed RH et al.
Case Reports in Nephrology, 2026
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
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
Diagnostic Utility of Exome Sequencing Among Israeli Children With Kidney Failure.
Ben-Moshe Y et al.
Kidney International Reports, 2023
Clinical utility of genetic testing in Indian children with kidney diseases.
Saha A et al.
Bmc Nephrology, 2023
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
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
Management of congenital nephrotic syndrome: consensus recommendations of the ERKNet-ESPN Working Group.
Boyer O et al.
Nature Reviews. Nephrology, 2021
Genetic aspects of congenital nephrotic syndrome: a consensus statement from the ERKNet-ESPN inherited glomerulopathy working group.
Lipska-Ziętkiewicz BS et al.
European Journal of Human Genetics : Ejhg, 2020
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
Structural features and oligomeric nature of human podocin domain.
Mulukala SKN et al.
Biochemistry and Biophysics Reports, 2020
Treatment of steroid-resistant nephrotic syndrome in the genomic era.
Bensimhon AR et al.
Pediatric Nephrology (berlin, Germany), 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
Targeted Next-Generation Sequencing in Brazilian Children With Nephrotic Syndrome Submitted to Renal Transplant.
Feltran LS et al.
Transplantation, 2017
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F et al.
Pediatric Nephrology (berlin, Germany), 2017
Corrigendum: 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
The etiology of congenital nephrotic syndrome: current status and challenges.
Wang JJ et al.
World Journal of Pediatrics : Wjp, 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
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.
Holmberg C et al.
Pediatric Nephrology (berlin, Germany), 2014
NPHS2 variation in Chinese southern infants with late steroid-resistant nephrotic syndrome.
Dai Y et al.
Renal Failure, 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
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
Genetics of steroid-resistant nephrotic syndrome: a review of mutation spectrum and suggested approach for genetic testing.
Joshi S et al.
Acta Paediatrica (oslo, Norway : 1992), 2013
Molecular and genetic basis of inherited nephrotic syndrome.
Gigante M et al.
International Journal of Nephrology, 2011
A novel mutation in NPHS2 causing nephrotic syndrome in a Saudi Arabian family.
Al-Hamed M et al.
Ndt Plus, 2010
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
Hereditary nephrotic syndrome: a systematic approach for genetic testing and a review of associated podocyte gene mutations.
Benoit G et al.
Pediatric Nephrology (berlin, Germany), 2010
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
Löwik MM et al.
European Journal of Pediatrics, 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
NPHS2 (podicin) mutations in Turkish children with idiopathic nephrotic syndrome.
Berdeli A et al.
Pediatric Nephrology (berlin, Germany), 2007
Recurrent nephrotic syndrome in homozygous truncating NPHS2 mutation is not due to anti-podocin antibodies.
Becker-Cohen R et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 2007
Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected].
Caridi G et al.
Transplantation Proceedings, 2006
Hyperphosphatemia is prevalent among children with nephrotic syndrome and normal renal function.
Feinstein S et al.
Pediatric Nephrology (berlin, Germany), 2006
The heart of children with steroid-resistant nephrotic syndrome: is it all podocin?
Frishberg Y et al.
Journal of the American Society of Nephrology : Jasn, 2006
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 2005
New insights into the pathogenesis and the therapy of recurrent focal glomerulosclerosis.
Vincenti F et al.
American Journal of Transplantation : Official Journal of the American Society of Transplantation and the American Society of Transplant Surgeons, 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
NPHS2 mutation analysis shows genetic heterogeneity of steroid-resistant nephrotic syndrome and low post-transplant recurrence.
Weber S et al.
Kidney International, 2004
A podocentric view of nephrology.
Ly J et al.
Current Opinion in Nephrology and Hypertension, 2004
Recent advances in congenital nephrotic syndrome.
Papez KE et al.
Current Opinion in Pediatrics, 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
Molecular basis of the functional podocin-nephrin complex: mutations in the NPHS2 gene disrupt nephrin targeting to lipid raft microdomains.
Huber TB et al.
Human Molecular Genetics, 2003