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Volumn 21, Issue 1, 2006, Pages 160-164

Two cases of isolated diffuse mesangial sclerosis with WT1 mutations

Author keywords

Denys Drash Syndrome; Diffuse Mesangial Sclerosis; Genes, Wilms Tumor; WT1 Proteins

Indexed keywords


EID: 33144464487     PISSN: 10118934     EISSN: 15986357     Source Type: Journal    
DOI: 10.3346/jkms.2006.21.1.160     Document Type: Article
Times cited : (18)

References (24)
  • 1
    • 0030891372 scopus 로고    scopus 로고
    • A clinical overview of WTl gene mutations
    • Little M, Wells C. A clinical overview of WTl gene mutations. Hum Mutat 1997; 9: 209-25.
    • (1997) Hum Mutat , vol.9 , pp. 209-225
    • Little, M.1    Wells, C.2
  • 2
    • 0029036337 scopus 로고
    • Transcription factors in renal development: The WT1 and pax-2 story
    • Dressler GR. Transcription factors in renal development: the WT1 and pax-2 story. Semin Nephrol 1995; 15: 263-71.
    • (1995) Semin Nephrol , vol.15 , pp. 263-271
    • Dressler, G.R.1
  • 3
    • 0033005665 scopus 로고    scopus 로고
    • YAC complementation shows a requirement for WT1 in the development of epicardium, adrenal gland and throughout nephrogenesis
    • Moore AW, Mclnnes L, Kreidberg J, Hastie ND, Schedl A. YAC complementation shows a requirement for WT1 in the development of epicardium, adrenal gland and throughout nephrogenesis. Development 1999; 126: 1845-57.
    • (1999) Development , vol.126 , pp. 1845-1857
    • Moore, A.W.1    Mclnnes, L.2    Kreidberg, J.3    Hastie, N.D.4    Schedl, A.5
  • 4
    • 0037087593 scopus 로고    scopus 로고
    • WTI is a key regulator of podocyte function: Reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis
    • Guo JK, Menke AL, Gubler MC, Clarke AR, Harrison D, Hammes A, Hastie ND, Schedl A. WTI is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Hum Mol Genet 2002; 11: 651-9.
    • (2002) Hum Mol Genet , vol.11 , pp. 651-659
    • Guo, J.K.1    Menke, A.L.2    Gubler, M.C.3    Clarke, A.R.4    Harrison, D.5    Hammes, A.6    Hastie, N.D.7    Schedl, A.8
  • 5
    • 0031759919 scopus 로고    scopus 로고
    • WTI; More than a transcription factor?
    • Englert C. WTI; More than a transcription factor? Trends Biochem Sci 1998; 23: 389-93.
    • (1998) Trends Biochem Sci , vol.23 , pp. 389-393
    • Englert, C.1
  • 7
    • 0037099299 scopus 로고    scopus 로고
    • The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1
    • Wilhelm D, Englert C. The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1. Genes Dev 2002; 16: 1839-51.
    • (2002) Genes Dev , vol.16 , pp. 1839-1851
    • Wilhelm, D.1    Englert, C.2
  • 8
    • 0014119131 scopus 로고
    • De pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosakisme XX/XY
    • Denys P, Malvaux P, van den Berghe H, Tanghe W, Proesmans W. De pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une nephropathie parenchymateuse et d'un mosakisme XX/XY. Archives Francaises de Pediatrie 1967; 24: 729-39.
    • (1967) Archives Francaises de Pediatrie , vol.24 , pp. 729-739
    • Denys, P.1    Malvaux, P.2    Van Den Berghe, H.3    Tanghe, W.4    Proesmans, W.5
  • 9
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease
    • Drash A, Sherman F, Harmann WH, Blizzard RM. A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease. JPediatr 1970; 76: 585-93.
    • (1970) JPediatr , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Harmann, W.H.3    Blizzard, R.M.4
  • 10
    • 0022357227 scopus 로고
    • The nephropathy associated with male pseudohermaphroditism and. Wilms' tumor (Drash syndrome): A distinctive glomerular lesion? Report of 10 cases
    • Habib R, Loirat C, Gubler MC, Niaudet P, Bensman A, Levy M, Broyer M. The nephropathy associated with male pseudohermaphroditism and. Wilms' tumor (Drash syndrome): a distinctive glomerular lesion? Report of 10 cases. Clin Nephrol 1985; 24: 269-78.
    • (1985) Clin Nephrol , vol.24 , pp. 269-278
    • Habib, R.1    Loirat, C.2    Gubler, M.C.3    Niaudet, P.4    Bensman, A.5    Levy, M.6    Broyer, M.7
  • 11
    • 0025169598 scopus 로고
    • Clinicopathologic review of twelve children with nephropathy, Wilms' tumor, and genital abnormalities (Drash syndrome)
    • Jadresic L, Leake J, Gordon I, Dillon MJ, Grant DB, Pritchard J, Risdon RA, Baratt TM. Clinicopathologic review of twelve children with nephropathy, Wilms' tumor, and genital abnormalities (Drash syndrome). J Pediatr 1990; 117: 717-25.
    • (1990) J Pediatr , vol.117 , pp. 717-725
    • Jadresic, L.1    Leake, J.2    Gordon, I.3    Dillon, M.J.4    Grant, D.B.5    Pritchard, J.6    Risdon, R.A.7    Baratt, T.M.8
  • 12
    • 0023139581 scopus 로고
    • Complete and incomplete Drash syndrome: A Clinicopathologic study of five cases of a dysontogenetic-neoplastic complex
    • Manivel JC, Sibley RK, Dehner LP. Complete and incomplete Drash syndrome: a Clinicopathologic study of five cases of a dysontogenetic-neoplastic complex. Hum Pathol 1987; 18: 80-9.
    • (1987) Hum Pathol , vol.18 , pp. 80-89
    • Manivel, J.C.1    Sibley, R.K.2    Dehner, L.P.3
  • 13
    • 0028587166 scopus 로고
    • The genetics of Wilms' tumor-a case of disrupted development
    • Hastie ND. The genetics of Wilms' tumor-a case of disrupted development. Ann Rev Genet 1994; 28: 523-58.
    • (1994) Ann Rev Genet , vol.28 , pp. 523-558
    • Hastie, N.D.1
  • 14
    • 17344364993 scopus 로고    scopus 로고
    • Identification of constitutional. WT1 mutations, in patients with isolated diffuse mesangial sclerosis and analysis ofgenotype/phenotype correlations by use of a computerized mutation database
    • Jeanpierre C, Denamur E, Henry I, Cabanis MO, Luce S, Cecille A, Elion J, Peuchmaur M, Loirat C, Niaudet P, Gubler MC, Junien C. Identification of constitutional. WT1 mutations, in patients with isolated diffuse mesangial sclerosis and analysis ofgenotype/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    Cabanis, M.O.4    Luce, S.5    Cecille, A.6    Elion, J.7    Peuchmaur, M.8    Loirat, C.9    Niaudet, P.10    Gubler, M.C.11    Junien, C.12
  • 16
    • 0034164478 scopus 로고    scopus 로고
    • Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome
    • Little M, Carman G, Donaldson E. Novel WT1 exon 9 mutation (D396Y) in a patient with early onset Denys Drash syndrome. Hum Mutat 2000; 15: 389.
    • (2000) Hum Mutat , vol.15 , pp. 389
    • Little, M.1    Carman, G.2    Donaldson, E.3
  • 17
    • 16244390295 scopus 로고    scopus 로고
    • Congenital nephrotic syndrome
    • Avner ED, Harmon WE, Niaudet P. Philadelphia, Uppincott Williams and Wilkins
    • Holmberg C, Tryggvason K, Kestila MK, Jalanko HI. Congenital nephrotic syndrome. In: Avner ED, Harmon WE, Niaudet P. Pediatric Nephrology 5th ed. Philadelphia, Uppincott Williams and Wilkins, 2004; 503-16.
    • (2004) Pediatric Nephrology 5th Ed. , pp. 503-516
    • Holmberg, C.1    Tryggvason, K.2    Kestila, M.K.3    Jalanko, H.I.4
  • 19
    • 0033616220 scopus 로고    scopus 로고
    • Sex determination and the y chromosome
    • McElreavey K, Fellous M. Sex determination and the Y chromosome. Am J Med Genet 1999; 89: 176-85.
    • (1999) Am J Med Genet , vol.89 , pp. 176-185
    • McElreavey, K.1    Fellous, M.2
  • 22
    • 0032786044 scopus 로고    scopus 로고
    • Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years
    • Ito S, Ikeda M, Takada A, Kikuchi H, Hata J, Honda M. Nephrotic syndrome and end-stage renal disease with WT1 mutation detected at 3 years. Pediatr Nephrol 1999; 13: 790-1.
    • (1999) Pediatr Nephrol , vol.13 , pp. 790-791
    • Ito, S.1    Ikeda, M.2    Takada, A.3    Kikuchi, H.4    Hata, J.5    Honda, M.6
  • 23
    • 0035092225 scopus 로고    scopus 로고
    • Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene
    • Ito S, Takata A, Hataya H, Ikeda Mikuchi H, Hata J, Honda M. Isolated diffuse mesangial sclerosis and Wilms tumor suppressor gene J Pediatr 2001; 138: 425-7.
    • (2001) J Pediatr , vol.138 , pp. 425-427
    • Ito, S.1    Takata, A.2    Hataya, H.3    Ikeda, M.H.4    Hata, J.5    Honda, M.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.