메뉴 건너뛰기




Volumn 35, Issue 1, 1998, Pages 45-48

Do intronic mutations affecting splicing of WT1 exon 9 cause Frasier syndrome?

Author keywords

Frasier syndrome; Intronic mutation; WT1 gene

Indexed keywords

LYSINE; PROTEIN; SERINE; THREONINE; ZINC FINGER PROTEIN;

EID: 0031972063     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.35.1.45     Document Type: Article
Times cited : (81)

References (19)
  • 1
    • 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
  • 2
    • 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 GAP. 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    Gap, B.6
  • 4
    • 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
  • 5
    • 0026332306 scopus 로고
    • Cell types expressing the Wilms' tumour gene (WT1) in Wilms' tumours: Implications for tumour histogenesis
    • Pritchard-Jones K, Fleming S. Cell types expressing the Wilms' tumour gene (WT1) in Wilms' tumours: implications for tumour histogenesis. Oncogene 1991;6:2211-20.
    • (1991) Oncogene , vol.6 , pp. 2211-2220
    • Pritchard-Jones, K.1    Fleming, S.2
  • 6
    • 0026094584 scopus 로고
    • Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome
    • Pelletier J, Bruening W, Kashtan CE, et al. Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome. Cell 1991;67:437-47.
    • (1991) Cell , vol.67 , pp. 437-447
    • Pelletier, J.1    Bruening, W.2    Kashtan, C.E.3
  • 7
    • 0026864939 scopus 로고
    • Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development
    • Bruening W, Bardeesy N, Silverman BL, et al. Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development. Nat Genet 1992;1:144-8.
    • (1992) Nat Genet , vol.1 , pp. 144-148
    • Bruening, W.1    Bardeesy, N.2    Silverman, B.L.3
  • 8
    • 0027371520 scopus 로고
    • Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome
    • König A, Jakubiczka S, Wieacker P, Schlösser HW, Gessler M. Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome. Hum Mol Genet 1993;2:1967-8.
    • (1993) Hum Mol Genet , vol.2 , pp. 1967-1968
    • König, A.1    Jakubiczka, S.2    Wieacker, P.3    Schlösser, H.W.4    Gessler, M.5
  • 9
    • 0028181317 scopus 로고
    • WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion
    • 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. Genomics 1994;21:663-5.
    • (1994) Genomics , vol.21 , pp. 663-665
    • Bardeesy, N.1    Zabel, B.2    Schmitt, K.3    Pelletier, J.4
  • 10
    • 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 Suppl 1987;3:297-302.
    • (1987) Am J Med Genet Suppl , vol.3 , pp. 297-302
    • Moorthy, A.V.1    Chesney, R.W.2    Lubinsky, M.3
  • 11
    • 0028985169 scopus 로고
    • A critical mutation in both WT1 alleles is not sufficient to cause Wilms' tumor
    • Kikuchi H, Akasaka Y, Kurosawa Y, Yoneyama H, Kato S, Hata J. A critical mutation in both WT1 alleles is not sufficient to cause Wilms' tumor. FEBS Lett 1995;360:26-8.
    • (1995) FEBS Lett , vol.360 , pp. 26-28
    • Kikuchi, H.1    Akasaka, Y.2    Kurosawa, Y.3    Yoneyama, H.4    Kato, S.5    Hata, J.6
  • 12
    • 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, et al. 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
  • 13
    • 0027359015 scopus 로고
    • Denys-Drash syndrome: Relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1
    • Coppes MJ, Huff V, Pelletier J. Denys-Drash syndrome: relating a clinical disorder to genetic alterations in the tumor suppressor gene WT1. J Pediatr 1993;123:673-8.
    • (1993) J Pediatr , vol.123 , pp. 673-678
    • Coppes, M.J.1    Huff, V.2    Pelletier, J.3
  • 14
    • 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
  • 15
    • 0021875791 scopus 로고
    • Pseudohermaphroditism, glomerulopathy, and Wilms tumor (Drash syndrome): Frequency in end-stage renal failure
    • Eddy AA, Mauer SM. Pseudohermaphroditism, 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
  • 16
    • 0027318296 scopus 로고
    • Distinct molecular origins for Denys-Drash and Frasier syndromes
    • Poulat F, Morin D, König A, et al. Distinct molecular origins for Denys-Drash and Frasier syndromes. Hum Genet 1993;91:285-6.
    • (1993) Hum Genet , vol.91 , pp. 285-286
    • Poulat, F.1    Morin, D.2    König, A.3
  • 17
    • 0029071508 scopus 로고
    • Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
    • Larsson SH, Charlieu J, 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.2    Miyagawa, K.3
  • 19
    • 0025605969 scopus 로고
    • Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence
    • Rauscher FJ III, Morris JF, Tournary OE, Cook DM, Curran T. Binding of the Wilms' tumor locus zinc finger protein to the EGR-1 consensus sequence. Science 1990;250:1259-62.
    • (1990) Science , vol.250 , pp. 1259-1262
    • Rauscher III, F.J.1    Morris, J.F.2    Tournary, O.E.3    Cook, D.M.4    Curran, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.