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MeSH Review

Denys-Drash Syndrome

 
 
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Disease relevance of Denys-Drash Syndrome

 

High impact information on Denys-Drash Syndrome

 

Biological context of Denys-Drash Syndrome

 

Anatomical context of Denys-Drash Syndrome

 

Gene context of Denys-Drash Syndrome

 

Analytical, diagnostic and therapeutic context of Denys-Drash Syndrome

References

  1. WT1 interacts with the splicing factor U2AF65 in an isoform-dependent manner and can be incorporated into spliceosomes. Davies, R.C., Calvio, C., Bratt, E., Larsson, S.H., Lamond, A.I., Hastie, N.D. Genes Dev. (1998) [Pubmed]
  2. 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., Denamur, E., Henry, I., Cabanis, M.O., Luce, S., Cécille, A., Elion, J., Peuchmaur, M., Loirat, C., Niaudet, P., Gubler, M.C., Junien, C. Am. J. Hum. Genet. (1998) [Pubmed]
  3. Frasier syndrome: a cause of focal segmental glomerulosclerosis in a 46,XX female. Demmer, L., Primack, W., Loik, V., Brown, R., Therville, N., McElreavey, K. J. Am. Soc. Nephrol. (1999) [Pubmed]
  4. The alpha-thalassemia/mental retardation syndromes. Gibbons, R.J., Higgs, D.R. Medicine (Baltimore) (1996) [Pubmed]
  5. Germline WT1 mutations in Wilms' tumor patients: preliminary results. Li, F.P., Breslow, N.E., Morgan, J.M., Ghahremani, M., Miller, G.A., Grundy, P.E., Green, D.M., Diller, L.R., Pelletier, J. Med. Pediatr. Oncol. (1996) [Pubmed]
  6. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Pelletier, J., Bruening, W., Kashtan, C.E., Mauer, S.M., Manivel, J.C., Striegel, J.E., Houghton, D.C., Junien, C., Habib, R., Fouser, L. Cell (1991) [Pubmed]
  7. Regulation of renal EGF receptor expression is normal in Denys-Drash syndrome. Vicanek, C., Ferretti, E., Goodyer, C., Torban, E., Moffett, P., Pelletier, J., Goodyer, P. Kidney Int. (1997) [Pubmed]
  8. A point mutation found in the WT1 gene in a sporadic Wilms' tumor without genitourinary abnormalities is identical with the most frequent point mutation in Denys-Drash syndrome. Akasaka, Y., Kikuchi, H., Nagai, T., Hiraoka, N., Kato, S., Hata, J. FEBS Lett. (1993) [Pubmed]
  9. Diaphragmatic hernia in Denys-Drash syndrome. Devriendt, K., Deloof, E., Moerman, P., Legius, E., Vanhole, C., de Zegher, F., Proesmans, W., Devlieger, H. Am. J. Med. Genet. (1995) [Pubmed]
  10. Elevated maternal serum and amniotic fluid alpha-fetoprotein levels in the Denys-Drash syndrome. Devriendt, K., van den Berghe, K., Moerman, P., Fryns, J.P. Prenat. Diagn. (1996) [Pubmed]
  11. RNA binding by the Wilms tumor suppressor zinc finger proteins. Caricasole, A., Duarte, A., Larsson, S.H., Hastie, N.D., Little, M., Holmes, G., Todorov, I., Ward, A. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  12. Inherited WT1 mutation in Denys-Drash syndrome. Coppes, M.J., Liefers, G.J., Higuchi, M., Zinn, A.B., Balfe, J.W., Williams, B.R. Cancer Res. (1992) [Pubmed]
  13. The WT1 Wilms tumor gene product: a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor. Rauscher, F.J. FASEB J. (1993) [Pubmed]
  14. WT1 regulates the expression of the major glomerular podocyte membrane protein Podocalyxin. Palmer, R.E., Kotsianti, A., Cadman, B., Boyd, T., Gerald, W., Haber, D.A. Curr. Biol. (2001) [Pubmed]
  15. Distinct molecular origins for Denys-Drash and Frasier syndromes. Poulat, F., Morin, D., König, A., Brun, P., Giltay, J., Sultan, C., Dumas, R., Gessler, M., Berta, P. Hum. Genet. (1993) [Pubmed]
  16. An unusual phenotype of Frasier syndrome due to IVS9 +4C>T mutation in the WT1 gene: predominantly male ambiguous genitalia and absence of gonadal dysgenesis. Melo, K.F., Martin, R.M., Costa, E.M., Carvalho, F.M., Jorge, A.A., Arnhold, I.J., Mendonca, B.B. J. Clin. Endocrinol. Metab. (2002) [Pubmed]
  17. Role of Wilms tumor 1 (WT1) in the transcriptional regulation of the Mullerian-inhibiting substance promoter. Hossain, A., Saunders, G.F. Biol. Reprod. (2003) [Pubmed]
  18. Intersex disorders: shedding light on male sexual differentiation beyond SRY. MacLean, H.E., Warne, G.L., Zajac, J.D. Clin. Endocrinol. (Oxf) (1997) [Pubmed]
  19. Hereditary disorders of the glomerular basement membrane. Smeets, H.J., Knoers, V.V., van de Heuvel, L.P., Lemmink, H.H., Schröder, C.H., Monnens, L.A. Pediatr. Nephrol. (1996) [Pubmed]
  20. Development of an siRNA-based method for repressing specific genes in renal organ culture and its use to show that the Wt1 tumour suppressor is required for nephron differentiation. Davies, J.A., Ladomery, M., Hohenstein, P., Michael, L., Shafe, A., Spraggon, L., Hastie, N. Hum. Mol. Genet. (2004) [Pubmed]
  21. Transcriptional regulation of PDGF-A and TGF-beta by +KTS WT1 deletion mutants and a mutant mimicking Denys-Drash syndrome. Jin, D.K., Kang, S.J., Kim, S.J., Bang, E.H., Hwang, H.Z., Tadokoro, K., Yamada, M., Kohsaka, T. Renal failure. (1999) [Pubmed]
  22. Functional characterization of WT1 binding sites within the human vitamin D receptor gene promoter. Lee, T.H., Pelletier, J. Physiol. Genomics (2001) [Pubmed]
  23. Wilms tumor in a pediatric renal transplant recipient with unexpected Denys-Drash syndrome. Bydder, S., Charles, A., Hewitt, I., Walpole, I., Algar, E.M., Smith, N., Phillips, M.B. Transplant. Proc. (2002) [Pubmed]
 
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