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Volumn 11, Issue 2, 2008, Pages 122-127

Expanding the clinical spectrum of Frasier syndrome

Author keywords

Focal and segmental glomerulosclerosis; Frasier syndrome; Gonadoblastoma; Nephrotic syndrome; Pseudohermaphroditism; WT 1 gene

Indexed keywords

CYCLOPHOSPHAMIDE; CYCLOSPORIN; DACTINOMYCIN; VINCRISTINE;

EID: 44949117712     PISSN: 10935266     EISSN: 16155742     Source Type: Journal    
DOI: 10.2350/07-01-0209.1     Document Type: Article
Times cited : (25)

References (24)
  • 1
    • 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; 64:740-745.
    • (1964) J Pediatr , vol.64 , pp. 740-745
    • Frasier, S.D.1    Bashore, R.A.2    Mosier, H.D.3
  • 2
    • 0023477994 scopus 로고
    • Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome - a commentary on reported cases
    • Moorthy AV, Chesney RW, Lubinsky M. Chronic renal failure and XY gonadal dysgenesis: "Frasier" syndrome - a commentary on reported cases. Am J Med Genet 1987;3:297-302.
    • (1987) Am J Med Genet , vol.3 , pp. 297-302
    • Moorthy, A.V.1    Chesney, R.W.2    Lubinsky, M.3
  • 3
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease
    • Drash A, Sherman F, Hartmann WH, Blizzard RM. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension, and degenerative renal disease. J Pediatr 1970;76:585-593.
    • (1970) J Pediatr , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Hartmann, W.H.3    Blizzard, R.M.4
  • 4
    • 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;17:467-470.
    • (1997) Nat Genet , vol.17 , pp. 467-470
    • Barbaux, S.1    Niaudet, P.2    Gubler, M.C.3
  • 5
    • 20544462369 scopus 로고    scopus 로고
    • Frasier syndrome comes full circle: Genetic studies performed in an original patient
    • Wang NJ, Song HR, Schanen NC, Litman NL, Frasier SD. Frasier syndrome comes full circle: genetic studies performed in an original patient. J Pediatr 2005;146:843-844.
    • (2005) J Pediatr , vol.146 , pp. 843-844
    • Wang, N.J.1    Song, H.R.2    Schanen, N.C.3    Litman, N.L.4    Frasier, S.D.5
  • 6
    • 0031922880 scopus 로고    scopus 로고
    • Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
    • Klamt B, Koziell A, Poulat F, et al. Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms. Hum Mol Genet 1998;7:709-714.
    • (1998) Hum Mol Genet , vol.7 , pp. 709-714
    • Klamt, B.1    Koziell, A.2    Poulat, F.3
  • 7
    • 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 Molec Genet 1993;2:259-264.
    • (1993) Hum Molec Genet , vol.2 , pp. 259-264
    • Little, M.H.1    Williamson, K.A.2    Mannens, M.3
  • 8
    • 0033764489 scopus 로고    scopus 로고
    • Wilms' tumor suppressor gene WT1: From structure to renal pathophysiologic features
    • Mrowka C, Schedl A. Wilms' tumor suppressor gene WT1: from structure to renal pathophysiologic features. J Am Soc Nephrol 2000; 11(Suppl 2):S106-S115.
    • (2000) J Am Soc Nephrol , vol.11 , Issue.SUPPL. 2
    • Mrowka, C.1    Schedl, A.2
  • 10
    • 0035827923 scopus 로고    scopus 로고
    • WT1 proteins: Functions in growth and differentiation
    • Scharnhorst V, van der Eb AJ, Jochemsen AG. WT1 proteins: functions in growth and differentiation. Gene 2001;273:141-161.
    • (2001) Gene , vol.273 , pp. 141-161
    • Scharnhorst, V.1    van der Eb, A.J.2    Jochemsen, A.G.3
  • 11
    • 0025098654 scopus 로고
    • Homozygous delation in Wilms tumor of a zinc-finger gene identified by chromosome jumping
    • Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA. Homozygous delation in Wilms tumor of a zinc-finger gene identified by chromosome jumping. Nature 1990;343:774-778.
    • (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
  • 13
    • 3042762359 scopus 로고    scopus 로고
    • One tissue, two fates: Molecular genetic events that underlie testis versus ovary development
    • Brennan J, Capel B. One tissue, two fates: molecular genetic events that underlie testis versus ovary development. Nature Rev Genet 2004;5:509-521.
    • (2004) Nature Rev Genet , vol.5 , pp. 509-521
    • Brennan, J.1    Capel, B.2
  • 14
    • 25444455912 scopus 로고    scopus 로고
    • Wilms tumour, connecting tumorigenesis and organ development in the kidney
    • Rivera MN, Haber DA. Wilms tumour, connecting tumorigenesis and organ development in the kidney. Nature Rev Cancer 2005;5:699-712.
    • (2005) Nature Rev Cancer , vol.5 , pp. 699-712
    • Rivera, M.N.1    Haber, D.A.2
  • 15
    • 84924847595 scopus 로고
    • Gonadoblastoma. A gonadal tumor related to the dysgerminoma (seminoma) and capable of sex-hormone production
    • Scully RE. Gonadoblastoma. A gonadal tumor related to the dysgerminoma (seminoma) and capable of sex-hormone production. Cancer 1953;6:455-463.
    • (1953) Cancer , vol.6 , pp. 455-463
    • Scully, R.E.1
  • 16
    • 0014807623 scopus 로고
    • Gonadoblastoma. A review of 74 cases
    • Scully RE. Gonadoblastoma. A review of 74 cases. Cancer 1970;25:1340-1356.
    • (1970) Cancer , vol.25 , pp. 1340-1356
    • Scully, R.E.1
  • 17
    • 20144386388 scopus 로고    scopus 로고
    • Identification of germ cells at risk for neoplastic transformation in gonadoblastoma. An immunohistochemical study for OCT3/4 and TSPY
    • Kersemaekers AF, Honecker F, Stoop H, et al. Identification of germ cells at risk for neoplastic transformation in gonadoblastoma. An immunohistochemical study for OCT3/4 and TSPY. Hum Pathol 2005;36:512-521.
    • (2005) Hum Pathol , vol.36 , pp. 512-521
    • Kersemaekers, A.F.1    Honecker, F.2    Stoop, H.3
  • 18
    • 0032913826 scopus 로고    scopus 로고
    • The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor
    • Barbosa AS, Hadjiathanasiou CG, Theodoridis C, et al. The same mutation affecting the splicing of WT1 gene is present on Frasier syndrome patients with or without Wilms' tumor. Hum Mutat 1999;13:146-153.
    • (1999) Hum Mutat , vol.13 , pp. 146-153
    • Barbosa, A.S.1    Hadjiathanasiou, C.G.2    Theodoridis, C.3
  • 19
    • 0032763264 scopus 로고    scopus 로고
    • Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome
    • Kohsaka T, Tagawa M, Takekoshi Y, Yanagisawa H, Tadokoro K, Yamada M. Exon 9 mutations in the WT1 gene, without influencing KTS splice isoforms, are also responsible for Frasier syndrome. Hum Mutat 1999;14:466-470.
    • (1999) Hum Mutat , vol.14 , pp. 466-470
    • Kohsaka, T.1    Tagawa, M.2    Takekoshi, Y.3    Yanagisawa, H.4    Tadokoro, K.5    Yamada, M.6
  • 20
    • 0034267398 scopus 로고    scopus 로고
    • Constitutional WT1 correlate with clinical features in children with progressive nephropathy
    • Takata A, Kikuchi H, Fukuzawa R, Ito S, Honda M, Hata J. Constitutional WT1 correlate with clinical features in children with progressive nephropathy. J Med Genet 2000;37:698-701.
    • (2000) J Med Genet , vol.37 , pp. 698-701
    • Takata, A.1    Kikuchi, H.2    Fukuzawa, R.3    Ito, S.4    Honda, M.5    Hata, J.6
  • 21
    • 0037242419 scopus 로고    scopus 로고
    • Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes)
    • Auber F, Lortat-Jacob S, Sarnacki S, et al. Surgical management and genotype/phenotype correlations in WT1 gene-related diseases (Drash, Frasier syndromes). J Pediatr Surg 2003;38:124-129.
    • (2003) J Pediatr Surg , vol.38 , pp. 124-129
    • Auber, F.1    Lortat-Jacob, S.2    Sarnacki, S.3
  • 22
    • 22244464278 scopus 로고    scopus 로고
    • Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma
    • Chen MJ, Yang JH, Mao TL, Ho HN, Yang YS. Successful pregnancy in a gonadectomized woman with 46,XY gonadal dysgenesis and gonadoblastoma. Fertil Steril 2005;84:217.
    • (2005) Fertil Steril , vol.84 , pp. 217
    • Chen, M.J.1    Yang, J.H.2    Mao, T.L.3    Ho, H.N.4    Yang, Y.S.5
  • 24
    • 33746882819 scopus 로고    scopus 로고
    • Posttransplant recurrence of proteinuria in a case of focal and segmental glomerulosclerosis associated with WT1 mutation
    • Ghiggeri GM, Aucella F, Caridi G, et al. Posttransplant recurrence of proteinuria in a case of focal and segmental glomerulosclerosis associated with WT1 mutation. Am J Transplant 2006;6:2208-2211.
    • (2006) Am J Transplant , vol.6 , pp. 2208-2211
    • Ghiggeri, G.M.1    Aucella, F.2    Caridi, G.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.