Associated Papers
High Diagnostic Yield of Genetic Screening in Autosomal Dominant Steroid-Resistant Nephrotic Syndrome: Predominance of INF2 and TRPC6 and Identification of a Novel Gene.
Azouaou L
Nephrology (carlton, Vic.), 2025
Molecular Genetics Solves the Conundrum of Two Brothers Affected With Proteinuria Coming With a Very Different Flavor: A Case Report.
Haydock L et al.
Kidney Medicine, 2025
Single-cell transcriptomics identifies aberrant glomerular angiogenic signalling in the early stages of WT1 kidney disease.
Chandler JC et al.
The Journal of Pathology, 2024
Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.
Hosokawa C et al.
Pediatric Nephrology (berlin, Germany), 2024
Genotype-phenotype correlation of WT1 mutation-related nephropathy in Chinese children.
Chen H et al.
Frontiers in Pediatrics, 2023
The functions of Wt1 in mouse gonad development and somatic cells differentiation†.
Chen M et al.
Biology of Reproduction, 2022
Long-term kidney function in children with Wilms tumour and constitutional WT1 pathogenic variant.
Falcone MP et al.
Pediatric Nephrology (berlin, Germany), 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
Focal Segmental Membranoproliferative Glomerulonephritis: A Histological Variant of Denys-Drash Syndrome.
Karmila AB et al.
Fetal and Pediatric Pathology, 2021
Immune-complex glomerulonephritis with a membranoproliferative pattern in Frasier syndrome: a case report and review of the literature.
Matsuoka D et al.
Bmc Nephrology, 2020
Genetic Causes of Rare Pediatric Ovarian Tumors.
Plevová P et al.
Klinicka Onkologie : Casopis Ceske a Slovenske Onkologicke Spolecnosti, 2019
Knock-in of the Wt1 R394W mutation causes MDS and cooperates with Flt3/ITD to drive aggressive myeloid neoplasms in mice.
Annesley CE et al.
Oncotarget, 2018
Paediatric ovarian tumours and their associated cancer susceptibility syndromes.
Goudie C et al.
Journal of Medical Genetics, 2018
Screening of WT1 mutations in exon 8 and 9 in children with steroid resistant nephrotic syndrome from a single centre and establishment of a rapid screening assay using high-resolution melting analysis in a clinical setting.
Siji A et al.
Bmc Medical Genetics, 2017
A high incidence of WT1 abnormality in bilateral Wilms tumours in Japan, and the penetrance rates in children with WT1 germline mutation.
Kaneko Y et al.
British Journal of Cancer, 2015
Mutational analysis of podocyte genes in children with sporadic steroid-resistant nephrotic syndrome.
Feng DN et al.
Genetics and Molecular Research : Gmr, 2014
Wt1 functions in ovarian follicle development by regulating granulosa cell differentiation.
Gao F et al.
Human Molecular Genetics, 2014
A familial WT1 mutation associated with incomplete Denys-Drash syndrome.
Zhu C et al.
European Journal of Pediatrics, 2013
Bilateral Wilms tumor and early presentation in pediatric patients is associated with the truncation of the Wilms tumor 1 protein.
Hu M et al.
The Journal of Pediatrics, 2013
Discordant phenotypes in monozygotic twins with identical de novo WT1 mutation.
Yu Z et al.
Clinical Kidney Journal, 2012
Broad and unexpected phenotypic expression in Greek children with steroid-resistant nephrotic syndrome due to mutations in the Wilms' tumor 1 (WT1) gene.
Megremis S et al.
European Journal of Pediatrics, 2011
Effect of cyclosporin A on proteinuria in the course of glomerulopathy associated with WT1 mutations.
Wasilewska AM et al.
European Journal of Pediatrics, 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
Successful treatment of steroid-resistant nephrotic syndrome associated with WT1 mutations.
Gellermann J et al.
Pediatric Nephrology (berlin, Germany), 2010
A murine model of Denys-Drash syndrome reveals novel transcriptional targets of WT1 in podocytes.
Ratelade J et al.
Human Molecular Genetics, 2010
Molecular genetic analysis of podocyte genes in focal segmental glomerulosclerosis--a review.
Löwik MM et al.
European Journal of Pediatrics, 2009
Clinical and genetic findings of five patients with WT1-related disorders.
Andrade JG et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2008
Denys-Drash syndrome and congenital diaphragmatic hernia: another case with the 1097G > A(Arg366His) mutation.
Antonius T et al.
American Journal of Medical Genetics. Part A, 2008
Impaired glomerular maturation and lack of VEGF165b in Denys-Drash syndrome.
Schumacher VA et al.
Journal of the American Society of Nephrology : Jasn, 2007
Mutations in the Wilms' tumor 1 gene cause isolated steroid resistant nephrotic syndrome and occur in exons 8 and 9.
Mucha B et al.
Pediatric Research, 2006
[A case of Denys-Drash syndrome with prophylactic bilateral nephrectomy].
Yamamoto K et al.
Nihon Jinzo Gakkai Shi, 2003
Wnt-4 regulation by the Wilms' tumour suppressor gene, WT1.
Sim EU et al.
Oncogene, 2002
Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome.
Little M et al.
Human Mutation, 2000
Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea.
Yoon SJ et al.
American Journal of Human Genetics, 1999
Evidence for the genetic heterogeneity of nephropathic phenotypes associated with Denys-Drash and Frasier syndromes.
Koziell AB et al.
American Journal of Human Genetics, 1999
Identification of constitutional WT1 mutations, in patients with isolated diffuse mesangial sclerosis, and analysis of genotype/phenotype correlations by use of a computerized mutation database.
Jeanpierre C et al.
American Journal of Human Genetics, 1998