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
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Analysis of NPHS2 Gene Mutations in Egyptian Children with Nephrotic Syndrome.
Zaki M et al.
Open Access Macedonian Journal of Medical Sciences, 2019
Genetics of congenital and infantile nephrotic syndrome.
Sharief SN et al.
World Journal of Pediatrics : Wjp, 2019
NPHS2 V260E Is a Frequent Cause of Steroid-Resistant Nephrotic Syndrome in Black South African Children.
Asharam K et al.
Kidney International Reports, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Characterization of NPHS2 gene polymorphisms associated to steroid resistance nephrotic syndrome in Indian children.
Joshi BB et al.
Gene, 2017
WT1 and NPHS2 gene mutation analysis and clinical management of steroid-resistant nephrotic syndrome.
Ramanathan AS et al.
Molecular and Cellular Biochemistry, 2017
The amino acid mutations of the podocin in proteinuria: a meta-analysis.
Lu L et al.
Renal Failure, 2015
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
The p.R229Q variant of the NPHS2 (podocin) gene in focal segmental glomerulosclerosis and steroid-resistant nephrotic syndrome: a meta-analysis.
Lu L et al.
International Urology and Nephrology, 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
Simultaneous sequencing of 24 genes associated with steroid-resistant nephrotic syndrome.
McCarthy HJ et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2013
Mutational analysis of the NPHS2 gene in Czech patients with idiopathic nephrotic syndrome.
Reiterová J et al.
Folia Biologica, 2012
Clinical value of NPHS2 analysis in early- and adult-onset steroid-resistant nephrotic syndrome.
Santín S et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 2011
Molecular and genetic basis of inherited nephrotic syndrome.
Gigante M et al.
International Journal of Nephrology, 2011
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
Familial forms of nephrotic syndrome.
Caridi G et al.
Pediatric Nephrology (berlin, Germany), 2010
Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.
Santín S et al.
Kidney International, 2009
Clinical features and long-term outcome of nephrotic syndrome associated with heterozygous NPHS1 and NPHS2 mutations.
Caridi G et al.
Clinical Journal of the American Society of Nephrology : Cjasn, 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
NPHS2 variation in sporadic focal segmental glomerulosclerosis.
McKenzie LM et al.
Journal of the American Society of Nephrology : Jasn, 2007
NPHS1 and NPHS2 gene mutations in Chinese children with sporadic nephrotic syndrome.
Mao J et al.
Pediatric Research, 2007
Podocin-related mechanisms in posttransplant [corrected] recurrence of focal segmental glomerulosclerosis [corrected].
Caridi G et al.
Transplantation Proceedings, 2006
Cis and trans regulatory elements in NPHS2 promoter: implications in proteinuria and progression of renal diseases.
Di Duca M et al.
Kidney International, 2006
Analysis of NPHS2 mutations in Turkish steroid-resistant nephrotic syndrome patients.
Ozçakar ZB et al.
Pediatric Nephrology (berlin, Germany), 2006
NPHS2 gene, nephrotic syndrome and focal segmental glomerulosclerosis: a HuGE review.
Franceschini N et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006
Recurrence of focal-segmental glomerulosclerosis in children after renal transplantation: clinical and genetic aspects.
Weber S et al.
Transplantation, 2005
Identification of podocin (NPHS2) gene mutations in African Americans with nondiabetic end-stage renal disease.
Dusel JA et al.
Kidney International, 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
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
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
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
Podocin mutations in sporadic focal-segmental glomerulosclerosis occurring in adulthood.
Caridi G et al.
Kidney International, 2003
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