Associated Papers
Establishing a nanoluciferase-based assay as a high-throughput screening platform for therapeutics in congenital nephrotic syndrome.
Tsuhako H et al.
Journal of Pharmacological Sciences, 2025
The clinical characteristics of patients with congenital nephrotic syndrome secondary to NPHS1 mutation: Is nephrectomy still a therapeutic option for selected cases?
Uğurlu Y et al.
Pediatric Nephrology (berlin, Germany), 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
A novel NPHS1 variant in a Chinese infant with congenital nephrotic syndrome: a case report and literature review.
Zhang W et al.
Frontiers in Pediatrics, 2025
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
The Clinical and Genetic Features in Chinese Children With Steroid-Resistant or Early-Onset Nephrotic Syndrome: A Multicenter Cohort Study.
Zhu X et al.
Frontiers in Medicine, 2022
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
A critical re-analysis of cases of post-transplantation recurrence in genetic nephrotic syndrome.
Mason AE et al.
Pediatric Nephrology (berlin, Germany), 2021
Identification of incompletely penetrant variants and interallelic interactions in autosomal recessive disorders by a population-genetic approach.
Mikó Á et al.
Human Mutation, 2021
Prenatal diagnosis of congenital nephrotic syndrome of the Finnish type in a Chinese family.
Gu Y et al.
Taiwanese Journal of Obstetrics & Gynecology, 2021
Genetic Variations and Clinical Features of NPHS1-Related Nephrotic Syndrome in Chinese Children: A Multicenter, Retrospective Study.
Rong L et al.
Frontiers in Medicine, 2021
[A Case of Congenital Nephrotic Syndrome of the Finnish Type].
Zhou Y et al.
Sichuan Da Xue Xue Bao. Yi Xue Ban = Journal of Sichuan University. Medical Science Edition, 2020
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
[A case of severe congenital nephrotic syndrome secondary to NPHS1 mutation].
Quiros A et al.
Revue Medicale De Liege, 2020
Congenital Nephrotic Syndrome in India in the Current Era: A Multicenter Case Series.
Sinha R et al.
Nephron, 2020
Nephrotic syndrome and mitochondrial disorders: answers.
Bernardor J et al.
Pediatric Nephrology (berlin, Germany), 2019
Diagnostic and Management Challenges in Congenital Nephrotic Syndrome.
Reynolds BC et al.
Pediatric Health, Medicine and Therapeutics, 2019
Gene mutation analysis in 12 Chinese children with congenital nephrotic syndrome.
Li GM et al.
Bmc Nephrology, 2018
Structural Basis of Highly Specific Interaction between Nephrin and MAGI1 in Slit Diaphragm Assembly and Signaling.
Weng Z et al.
Journal of the American Society of Nephrology : Jasn, 2018
Characterization of a novel disease-associated mutation within NPHS1 and its effects on nephrin phosphorylation and signaling.
Cooper CJ et al.
Plos One, 2018
Spectrum of mutations in Chinese children with steroid-resistant nephrotic syndrome.
Wang F et al.
Pediatric Nephrology (berlin, Germany), 2017
NPHS1 gene mutations confirm congenital nephrotic syndrome in four Brazilian cases: A novel mutation is described.
Guaragna MS et al.
Nephrology (carlton, Vic.), 2016
Nephrin Tyrosine Phosphorylation Is Required to Stabilize and Restore Podocyte Foot Process Architecture.
New LA et al.
Journal of the American Society of Nephrology : Jasn, 2016
The etiology of congenital nephrotic syndrome: current status and challenges.
Wang JJ et al.
World Journal of Pediatrics : Wjp, 2016
Novel NPHS1 gene mutations in a Chinese family with congenital nephrotic syndrome.
Yang F et al.
Journal of Genetics, 2016
Novel SMC1A frameshift mutations in children with developmental delay and epilepsy.
Goldstein JH et al.
European Journal of Medical Genetics, 2015
Cytomegalovirus infection can mimic genetic nephrotic syndrome: a case report.
Hogan J et al.
Bmc Nephrology, 2015
Genetic abnormalities and prognosis in patients with congenital and infantile nephrotic syndrome.
Cil O et al.
Pediatric Nephrology (berlin, Germany), 2015
A novel nonsense mutation in NPHS1: is aortic stenosis associated with congenital nephropathy?
Gharibeh L et al.
Journal of Genetics, 2015
Novel NPHS1 splice site mutations in a Chinese child with congenital nephrotic syndrome.
Fu R et al.
Genetics and Molecular Research : Gmr, 2015
Congenital nephrotic syndrome of NPHS1 associated with cardiac malformation.
Uysal B et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2015
Steroid Resistant Nephrotic Syndrome-Genetic Consideration.
Tasic V et al.
Prilozi (makedonska Akademija Na Naukite I Umetnostite. Oddelenie Za Medicinski Nauki), 2015
Congenital nephrotic syndrome and recurrence of proteinuria after renal transplantation.
Holmberg C et al.
Pediatric Nephrology (berlin, Germany), 2014
Nephrin and Podocin functions are highly conserved between the zebrafish pronephros and mammalian metanephros.
Fukuyo Y et al.
Molecular Medicine Reports, 2014
Educational paper: the podocytopathies.
Büscher AK et al.
European Journal of Pediatrics, 2012
A spectrum of novel NPHS1 and NPHS2 gene mutations in pediatric nephrotic syndrome patients from Pakistan.
Abid A et al.
Gene, 2012
Mutation analysis of NPHS1 in a worldwide cohort of congenital nephrotic syndrome patients.
Ovunc B et al.
Nephron. Clinical Practice, 2012
Two novel NPHS1 mutations in a Chinese family with congenital nephrotic syndrome.
Wu LQ et al.
Genetics and Molecular Research : Gmr, 2011
Comparison of solution-based exome capture methods for next generation sequencing.
Sulonen AM et al.
Genome Biology, 2011
Pathogenesis and therapy of focal segmental glomerulosclerosis: an update.
Gbadegesin R et al.
Pediatric Nephrology (berlin, Germany), 2011
[Updates on the molecular genetics of congenital nephrotic syndrome].
Zhang HW et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2011
Genetics in clinical practice: nephrotic and proteinuric syndromes.
McCarthy HJ et al.
Nephron. Experimental Nephrology, 2011
Molecular and genetic basis of inherited nephrotic syndrome.
Gigante M et al.
International Journal of Nephrology, 2011
Hereditary kidney diseases: highlighting the importance of classical Mendelian phenotypes.
Benoit G et al.
Annals of the New York Academy of Sciences, 2010
Nineteen novel NPHS1 mutations in a worldwide cohort of patients with congenital nephrotic syndrome (CNS).
Schoeb DS et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2010
Genotype-phenotype correlations in non-Finnish congenital nephrotic syndrome.
Machuca E et al.
Journal of the American Society of Nephrology : Jasn, 2010
Genetics of nephrotic syndrome: connecting molecular genetics to podocyte physiology.
Machuca E et al.
Human Molecular Genetics, 2009
Predisposition to relapsing nephrotic syndrome by a nephrin mutation that interferes with assembly of functioning microdomains.
Shono A et al.
Human Molecular Genetics, 2009
[Steroid-resistant nephrotic syndrome: recent genetic aspects].
Boyer O et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 2009
Two Korean infants with genetically confirmed congenital nephrotic syndrome of Finnish type.
Lee BH et al.
Journal of Korean Medical Science, 2009