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Page 1
WT1-related disorders: more than Denys-Drash syndrome.
Lopez-Gonzalez M, Ariceta G. Lopez-Gonzalez M, et al. Pediatr Nephrol. 2024 Sep;39(9):2601-2609. doi: 10.1007/s00467-024-06302-y. Epub 2024 Feb 7. Pediatr Nephrol. 2024. PMID: 38326647 Review.
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including Denys-Drash syndrome (DDS), Frasier syndrome (FS), Meacham syndrome, and WAGR syndrome. ...
Historically, specific mutations in WT1 gene have been associated with distinct syndromes based on phenotypic characteristics, including …
A review of the genetic background in complicated WT1-related disorders.
Nagano C, Nozu K. Nagano C, et al. Clin Exp Nephrol. 2025 Jan;29(1):1-9. doi: 10.1007/s10157-024-02539-x. Epub 2024 Jul 13. Clin Exp Nephrol. 2025. PMID: 39002031 Free PMC article. Review.
This group of conditions encompasses a wide phenotypic spectrum that includes Denys-Drash syndrome (DDS), Frasier syndrome (FS), Wilms-aniridia-genitourinary-mental retardation syndrome, and isolated manifestations of nephropathy or Wilms tumor. ...
This group of conditions encompasses a wide phenotypic spectrum that includes Denys-Drash syndrome (DDS), Frasier syndr …
Atypical severe early-onset nephrotic syndrome: Answers.
Berthaud R, Heidet L, Oualha M, Brat R, Talmud D, Garaix F, Rabant M, Frémeaux-Bacchi V, Antignac C, Boyer O, Dorval G. Berthaud R, et al. Pediatr Nephrol. 2022 Nov;37(11):2637-2642. doi: 10.1007/s00467-022-05537-x. Epub 2022 May 4. Pediatr Nephrol. 2022. PMID: 35507148 No abstract available.
Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin.
Bizzarri C, Antonella Giannone G, Gervasoni J, Benedetti S, Albanese F, Dello Strologo L, Guzzo I, Mucciolo M, Diomedi Camassei F, Emma F, Cappa M, Porzio O. Bizzarri C, et al. J Clin Res Pediatr Endocrinol. 2021 Aug 23;13(3):347-352. doi: 10.4274/jcrpe.galenos.2020.2020.0064. Epub 2020 Aug 25. J Clin Res Pediatr Endocrinol. 2021. PMID: 32840097 Free PMC article.
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a misdiagnosis of hyperandrogenism was made. ...
We describe a 46,XX girl with Denys-Drash syndrome, showing both kidney disease and genital abnormalities, in whom a mi …
Prophylactic bilateral nephrectomy and preemptive kidney transplantation for Denys-Drash syndrome prior to development of kidney failure.
Hosokawa C, Hotta K, Okamoto T, Cho Y, Hirose T, Iwahara N, Manabe A, Shinohara N. Hosokawa C, et al. Pediatr Nephrol. 2024 Mar;39(3):905-909. doi: 10.1007/s00467-023-06113-7. Epub 2023 Aug 12. Pediatr Nephrol. 2024. PMID: 37572117
BACKGROUND : Nephropathy in Denys-Drash syndrome (DDS) develops within a few months of birth, often progressing to kidney failure. ...
BACKGROUND : Nephropathy in Denys-Drash syndrome (DDS) develops within a few months of birth, often progressing to kid …
WT1 complete gonadal dysgenesis with membranoproliferative glomerulonephritis: case series and literature review.
Anderson E, Aldridge M, Turner R, Harraway J, McManus S, Stewart A, Borzi P, Trnka P, Burke J, Coman D. Anderson E, et al. Pediatr Nephrol. 2022 Oct;37(10):2369-2374. doi: 10.1007/s00467-022-05421-8. Epub 2022 Feb 24. Pediatr Nephrol. 2022. PMID: 35211794 Free PMC article. Review.
Membranoproliferative glomerulonephritis is not commonly associated with disorders of sex development but has been recently identified as a WT1-associated nephropathy, but usually in cases of exonic mutations in either isolated Wilms tumor or Denys-Drash syndrome …
Membranoproliferative glomerulonephritis is not commonly associated with disorders of sex development but has been recently identified as a …
Wilms' tumor gene 1: lessons from the interface between kidney development and cancer.
Torban E, Goodyer P. Torban E, et al. Am J Physiol Renal Physiol. 2024 Jan 1;326(1):F3-F19. doi: 10.1152/ajprenal.00248.2023. Epub 2023 Nov 2. Am J Physiol Renal Physiol. 2024. PMID: 37916284 Free article. Review.
We review the WT1 mutations that account for Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Although the WT1 story began with Wilms' tumors, an understanding of the pathways that link aberrant kidney development to malignant transformation still h …
We review the WT1 mutations that account for Denys-Drash syndrome, Frasier syndrome, and WAGR syndrome. Although the WT …
A case of Potter sequence with WT1 mutation.
Yoshino M, Shimabukuro W, Takeichi M, Omura J, Yokota C, Yamamoto J, Nakanishi K, Morisada N, Nozu K, Iijima K, Takahashi Y. Yoshino M, et al. CEN Case Rep. 2023 May;12(2):184-188. doi: 10.1007/s13730-022-00742-x. Epub 2022 Oct 13. CEN Case Rep. 2023. PMID: 36227513 Free PMC article.
Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failure develops after birth. ...
Wilms tumor 1 (WT1) is the causative gene of Denys-Drash syndrome and Frasier syndrome, and in most cases, kidney failu …
Generation of a human iPSC line (MPIi008-A) from a patient with Denys-Drash syndrome.
Doeser MC, Krygin J, Röpke A, Han D, Wedlich-Söldner R, Schöler HR, Pavenstädt H, Kim KP. Doeser MC, et al. Stem Cell Res. 2022 Jul;62:102826. doi: 10.1016/j.scr.2022.102826. Epub 2022 May 30. Stem Cell Res. 2022. PMID: 35667217 Free article.
An induced pluripotent stem cell (hiPSC) line (MPIi008-A) was generated from fibroblasts of a 1-year-old male patient with Denys-Drash syndrome using lentiviral delivery of reprogramming factors OCT4, SOX2, KLF4 and c-MYC. ...
An induced pluripotent stem cell (hiPSC) line (MPIi008-A) was generated from fibroblasts of a 1-year-old male patient with Denys-D …
23 results