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Volumn 81, Issue 4, 1999, Pages 365-369

Frasier and Denys-Drash syndromes: Different disorders or part of a spectrum?

Author keywords

[No Author keywords available]

Indexed keywords

DENYS DRASH SYNDROME; DISEASE CLASSIFICATION; FRASIER SYNDROME; GENE ISOLATION; GENE MUTATION; HUMAN; OVARY DEVELOPMENT; PRIORITY JOURNAL; REVIEW;

EID: 0032835981     PISSN: 00039888     EISSN: 14682044     Source Type: Journal    
DOI: 10.1136/adc.81.4.365     Document Type: Review
Times cited : (33)

References (41)
  • 1
    • 0014119131 scopus 로고
    • Association d'un syndrome anatomopathologique de pseudo-hermaphrodisine masculin, d'un tumeur de Wilms' d'un nephropathie parenchymarteuse et d'un mosaicisme XX/XY
    • Denys P, Malvaux P, van den Berghe H, Tanghe W, Proemans W. Association d'un syndrome anatomopathologique de pseudo-hermaphrodisine masculin, d'un tumeur de Wilms' d'un nephropathie parenchymarteuse et d'un mosaicisme XX/XY. Arch Fr Pediatr 1967;24:729-39.
    • (1967) Arch Fr Pediatr , vol.24 , pp. 729-739
    • Denys, P.1    Malvaux, P.2    Van den Berghe, H.3    Tanghe, W.4    Proemans, W.5
  • 2
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilms' tumour, hypertension and degenerative renal disease
    • Drash A, Sherman F, Harmann W, Blizzard R. A syndrome of pseudohermaphroditism, Wilms' tumour, hypertension and degenerative renal disease. J Paediatr 1970;76:585-93.
    • (1970) J Paediatr , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Harmann, W.3    Blizzard, R.4
  • 3
    • 0021875791 scopus 로고
    • Pseudohermaphroditisim, glomerulopathy, and Wilms' tumor (Drash syndrome): Frequency in end-stage renal failure
    • Eddy AA, Mauer SM. Pseudohermaphroditisim, glomerulopathy, and Wilms' tumor (Drash syndrome): Frequency in end-stage renal failure. J Pediatr 1985;106:584-7.
    • (1985) J Pediatr , vol.106 , pp. 584-587
    • Eddy, A.A.1    Mauer, S.M.2
  • 4
    • 0028181317 scopus 로고
    • WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion - Brief report
    • Bardeesy N, Zabel B, Schmitt K, Pelletier J. WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion - brief report. Genomics 1994;21:663-5.
    • (1994) Genomics , vol.21 , pp. 663-665
    • Bardeesy, N.1    Zabel, B.2    Schmitt, K.3    Pelletier, J.4
  • 6
    • 0028337140 scopus 로고
    • The Denys-Drash syndrome
    • Mueller RF. The Denys-Drash syndrome. J Med Genet 1994;31:471-7.
    • (1994) J Med Genet , vol.31 , pp. 471-477
    • Mueller, R.F.1
  • 7
    • 0015295131 scopus 로고
    • Mutation and cancer; A model for Wilms' tumor of the kidney
    • Knudson AG, Jr, Strong LC. Mutation and cancer; a model for Wilms' tumor of the kidney. J Natl Cancer Inst 1972;48:313-24.
    • (1972) J Natl Cancer Inst , vol.48 , pp. 313-324
    • Knudson A.G., Jr.1    Strong, L.C.2
  • 8
    • 0024500051 scopus 로고
    • Bilateral Wilms' tumour, long term survival and some epidemiological features
    • Coppes MJ, DeKraker J, van Dijken PL et al. Bilateral Wilms' tumour, long term survival and some epidemiological features. J Clin Oncol 1989;7:310-15.
    • (1989) J Clin Oncol , vol.7 , pp. 310-315
    • Coppes, M.J.1    DeKraker, J.2    Van Dijken, P.L.3
  • 9
    • 0026211091 scopus 로고
    • Extended follow up of bilateral Wilms' tumour: Results of the national Wilms' tumour study
    • Montgomery B, Kelais P, Blute M, et al. Extended follow up of bilateral Wilms' tumour; results of the national Wilms' tumour study. J Urol 1991;146:514-18.
    • (1991) J Urol , vol.146 , pp. 514-518
    • Montgomery, B.1    Kelais, P.2    Blute, M.3
  • 10
    • 0023880214 scopus 로고
    • Age distribution of Wilms' tumour: Report from the national Wilms' tumour study group
    • Breslow N, Beckwith J, Ciol M, Sharples K. Age distribution of Wilms' tumour: report from the national Wilms' tumour study group. Cancer Res 1988;48:1653-7.
    • (1988) Cancer Res , vol.48 , pp. 1653-1657
    • Breslow, N.1    Beckwith, J.2    Ciol, M.3    Sharples, K.4
  • 11
    • 0025271523 scopus 로고
    • Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor
    • Beckwith JB, Kiviat NB, Bonadio JF. Nephrogenic rests, nephroblastomatosis, and the pathogenesis of Wilms' tumor. Pediatr Pathol 1990; 10:1-36.
    • (1990) Pediatr Pathol , vol.10 , pp. 1-36
    • Beckwith, J.B.1    Kiviat, N.B.2    Bonadio, J.F.3
  • 12
    • 0027467952 scopus 로고
    • Precursor lesions of Wilms' tumor: Clinical and biological implications
    • Beckwith JB. Precursor lesions of Wilms' tumor: clinical and biological implications. Med Pediatr Oncol 1993;21:158-68.
    • (1993) Med Pediatr Oncol , vol.21 , pp. 158-168
    • Beckwith, J.B.1
  • 13
    • 0000786264 scopus 로고
    • Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins
    • Frasier SD, Bashore RA, Mosier HD. Gonadoblastoma associated with pure gonadal dysgenesis in monozygotic twins. J Pediatr 1964;64:740-5.
    • (1964) J Pediatr , vol.64 , pp. 740-745
    • Frasier, S.D.1    Bashore, R.A.2    Mosier, H.D.3
  • 14
    • 0025099787 scopus 로고
    • Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus
    • Call KM, Glaser T, Ito CY, et al. Isolation and characterization of a zinc finger polypeptide gene at the human chromosome 11 Wilms' tumor locus. Cell 1990;60:509-20.
    • (1990) Cell , vol.60 , pp. 509-520
    • Call, K.M.1    Glaser, T.2    Ito, C.Y.3
  • 15
    • 0025098654 scopus 로고
    • Homozygous deletion in Wilms' tumours of a zinc-finger gene identified by chromosome jumping
    • Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA. Homozygous deletion in Wilms' tumours of a zinc-finger gene identified by chromosome jumping. Nature 1990;343:774-8.
    • (1990) Nature , vol.343 , pp. 774-778
    • Gessler, M.1    Poustka, A.2    Cavenee, W.3    Neve, R.L.4    Orkin, S.H.5    Bruns, G.A.6
  • 16
    • 0018668497 scopus 로고
    • Aniridia-Wilms' tumor association: Evidence for specific deletion of 11p13
    • Francke U, Holmes LB, Atkins L, Riccardi VM. Aniridia-Wilms' tumor association: evidence for specific deletion of 11p13. Cytogenet Cell Genet 1979;24:185-92.
    • (1979) Cytogenet Cell Genet , vol.24 , pp. 185-192
    • Francke, U.1    Holmes, L.B.2    Atkins, L.3    Riccardi, V.M.4
  • 17
    • 0025291908 scopus 로고
    • The candidate Wilms' tumour gene is involved in genitourinary development
    • Pritchard-Jones K, Fleming S, Davidson D, et al. The candidate Wilms' tumour gene is involved in genitourinary development. Nature 1990;346:194-7.
    • (1990) Nature , vol.346 , pp. 194-197
    • Pritchard-Jones, K.1    Fleming, S.2    Davidson, D.3
  • 19
    • 0027182741 scopus 로고
    • WT-1 is required for early kidney development
    • Kreidberg JA, Sariola H, Loring JM, et al. WT-1 is required for early kidney development. Cell 1993;74:679-91.
    • (1993) Cell , vol.74 , pp. 679-691
    • Kreidberg, J.A.1    Sariola, H.2    Loring, J.M.3
  • 20
    • 0027209712 scopus 로고
    • The WT1 Wilms' tumor gene product - A developmentally regulated transcription factor in the kidney that functions as a tumor suppressor
    • Rauscher FJ. The WT1 Wilms' tumor gene product - a developmentally regulated transcription factor in the kidney that functions as a tumor suppressor. EASEB J 1993;7:896-903.
    • (1993) EASEB J , vol.7 , pp. 896-903
    • Rauscher, F.J.1
  • 21
    • 0029071508 scopus 로고
    • Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
    • Larsson SH, Charlieu JP, Miyagawa K, et al. Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 1995;81:391-401.
    • (1995) Cell , vol.81 , pp. 391-401
    • Larsson, S.H.1    Charlieu, J.P.2    Miyagawa, K.3
  • 24
    • 0029991989 scopus 로고    scopus 로고
    • A non-AUG translational initiation event generates novel WT1 isoforms
    • Bruening W, Pelletier J. A non-AUG translational initiation event generates novel WT1 isoforms. J Biol Chem 1996;271:8646-54.
    • (1996) J Biol Chem , vol.271 , pp. 8646-8654
    • Bruening, W.1    Pelletier, J.2
  • 25
    • 2642664516 scopus 로고    scopus 로고
    • Software and database for the analysis of mutations in the human WT1 gene
    • Jeanpierre C, Beroud C, Niaudet P, Junien C. Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 1998;26:271-4.
    • (1998) Nucleic Acids Res , vol.26 , pp. 271-274
    • Jeanpierre, C.1    Beroud, C.2    Niaudet, P.3    Junien, C.4
  • 26
    • 0027175810 scopus 로고
    • Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion
    • Little MH, Williamson KA, Mannens M, et al. Evidence that WT1 mutations in Denys-Drash syndrome patients may act in a dominant-negative fashion. Hum Mol Genet 1993;2:259-64.
    • (1993) Hum Mol Genet , vol.2 , pp. 259-264
    • Little, M.H.1    Williamson, K.A.2    Mannens, M.3
  • 28
    • 0029832887 scopus 로고    scopus 로고
    • Effect of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1
    • Borel F, Barilla KC, Hamilton TB, Iskandar M, Rumaniuk PJ. Effect of Denys-Drash syndrome point mutations on the DNA binding activity of the Wilms' tumor suppressor protein WT1. Biochemistry 1996;35:12070-6.
    • (1996) Biochemistry , vol.35 , pp. 12070-12076
    • Borel, F.1    Barilla, K.C.2    Hamilton, T.B.3    Iskandar, M.4    Rumaniuk, P.J.5
  • 29
    • 0030891372 scopus 로고    scopus 로고
    • A clinical overview of WT1 gene mutations
    • Little M, Wells C. A clinical overview of WT1 gene mutations. Hum Mutat 1997;9:209-25.
    • (1997) Hum Mutat , vol.9 , pp. 209-225
    • Little, M.1    Wells, C.2
  • 30
    • 0028793133 scopus 로고
    • Antagonism of WT1 activity by protein self-association
    • Moffett P, Bruening W, Nakagama H, et al. Antagonism of WT1 activity by protein self-association. Proc Natl Acad Sci 1995;92:11105-9.
    • (1995) Proc Natl Acad Sci , vol.92 , pp. 11105-11109
    • Moffett, P.1    Bruening, W.2    Nakagama, H.3
  • 32
    • 0028196679 scopus 로고
    • Infrequent mutation of the WT1 gene in 77 Wilms' tumors
    • Gessler M, König A, Arden K, et al. Infrequent mutation of the WT1 gene in 77 Wilms' tumors. Hum Mutat 1994;3:212-22.
    • (1994) Hum Mutat , vol.3 , pp. 212-222
    • Gessler, M.1    König, A.2    Arden, K.3
  • 33
    • 0028298044 scopus 로고
    • Fine structure analysis of the WT1 gene hi sporadic Wilms' tumors
    • Varanasi R, Bardeesy N, Ghahremani M, et al. Fine structure analysis of the WT1 gene hi sporadic Wilms' tumors. Proc Natl Acad Sci USA 1994;91:3554-8.
    • (1994) Proc Natl Acad Sci USA , vol.91 , pp. 3554-3558
    • Varanasi, R.1    Bardeesy, N.2    Ghahremani, M.3
  • 35
    • 16944365351 scopus 로고    scopus 로고
    • Donor splice-site mutations in WT1 are responsible for Frasier syndrome
    • Barbaux S, Niaudet P, Gubler MC, et al. Donor splice-site mutations in WT1 are responsible for Frasier syndrome. Nat Genet 1997;17; 167-70.
    • (1997) Nat Genet , vol.17 , pp. 167-170
    • Barbaux, S.1    Niaudet, P.2    Gubler, M.C.3
  • 36
    • 85084770268 scopus 로고    scopus 로고
    • Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?
    • Kichuchi H, Takata A, Akasaka Y, et al. Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome? J Med Genet 1998;35:15-8.
    • (1998) J Med Genet , vol.35 , pp. 15-18
    • Kichuchi, H.1    Takata, A.2    Akasaka, Y.3
  • 37
    • 0031922880 scopus 로고    scopus 로고
    • Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1 +/- KTS splice isoforms
    • Klamt B, Koziell AB, Poulat F, et al. Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1 +/- KTS splice isoforms. Hum Mol Genet 1998;74:709-714
    • (1998) Hum Mol Genet , vol.74 , pp. 709-714
    • Klamt, B.1    Koziell, A.B.2    Poulat, F.3
  • 39
    • 17344364993 scopus 로고    scopus 로고
    • 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, et al. 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. Am J Hum Genet 1998;62:824-33.
    • (1998) Am J Hum Genet , vol.62 , pp. 824-833
    • Jeanpierre, C.1    Denamur, E.2    Henry, I.3
  • 40
    • 7144261709 scopus 로고    scopus 로고
    • Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations
    • Schumacher V, Scharer K, Wuhl E, et al. Spectrum of early onset nephrotic syndrome associated with WT1 missense mutations. Kidney Int 1998:53:1594-1.
    • (1998) Kidney Int , vol.53 , pp. 15941
    • Schumacher, V.1    Scharer, K.2    Wuhl, E.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.