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Volumn 62, Issue 4, 1998, Pages 824-833

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

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DENYS DRASH SYNDROME; DISEASE ASSOCIATION; EXON; FEMALE; GENE MUTATION; HUMAN; MALE; MUTATION RATE; NEPHROBLASTOMA; PRIORITY JOURNAL; PSEUDOHERMAPHRODITISM;

EID: 17344364993     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1086/301806     Document Type: Article
Times cited : (212)

References (42)
  • 1
    • 0027411166 scopus 로고
    • 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 (1993) 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. FEBS Lett 317:39-43
    • (1993) FEBS Lett , vol.317 , pp. 39-43
    • Akasaka, Y.1    Kikuchi, H.2    Nagai, T.3    Hiraoka, N.4    Kato, S.5    Hata, J.6
  • 2
    • 0026907525 scopus 로고
    • Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome
    • Baird PN, Santos A, Groves N, Jadresic L, Cowell JK (1992) Constitutional mutations in the WT1 gene in patients with Denys-Drash syndrome. Hum Mol Genet 1:301-305
    • (1992) Hum Mol Genet , vol.1 , pp. 301-305
    • Baird, P.N.1    Santos, A.2    Groves, N.3    Jadresic, L.4    Cowell, J.K.5
  • 4
    • 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 (1994) WT1 mutations associated with incomplete Denys-Drash syndrome define a domain predicted to behave in a dominant-negative fashion. Genomics 21:663-665
    • (1994) Genomics , vol.21 , pp. 663-665
    • Bardeesy, N.1    Zabel, B.2    Schmitt, K.3    Pelletier, J.4
  • 5
    • 0030846298 scopus 로고    scopus 로고
    • Tying all together: Epigenetics, genetics, cell cycle and cancer
    • Baylin SB (1997) Tying all together: epigenetics, genetics, cell cycle and cancer. Science 277:1948-1949
    • (1997) Science , vol.277 , pp. 1948-1949
    • Baylin, S.B.1
  • 6
    • 0027295745 scopus 로고
    • A suggested nomenclature for designing mutations
    • Beaudet AL, Tsui LC (1993) A suggested nomenclature for designing mutations. Hum Mutat 2:245-248
    • (1993) Hum Mutat , vol.2 , pp. 245-248
    • Beaudet, A.L.1    Tsui, L.C.2
  • 7
    • 0026720732 scopus 로고
    • Modulation of DNA binding specificity by alternative splicing of the Wilms tumor WT1 gene transcript
    • Bickmore WA, Oghene K, Little MH, Seawhright A, Van Heyningen V, Hastie ND (1992) Modulation of DNA binding specificity by alternative splicing of the Wilms tumor WT1 gene transcript. Science 257:235-237
    • (1992) Science , vol.257 , pp. 235-237
    • Bickmore, W.A.1    Oghene, K.2    Little, M.H.3    Seawhright, A.4    Van Heyningen, V.5    Hastie, N.D.6
  • 10
    • 0014119131 scopus 로고
    • Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une néphropathie parenchymateuse et d'un mosaicisme XX/XY
    • Denys P, Malvaux P, Van den Berghe H, Tanghe W, Proesmans W (1967) Association d'un syndrome anatomopathologique de pseudohermaphrodisme masculin, d'une tumeur de Wilms, d'une néphropathie parenchymateuse et d'un mosaicisme XX/XY. Arch Fr Pediatr 24:729-739
    • (1967) Arch Fr Pediatr , vol.24 , pp. 729-739
    • Denys, P.1    Malvaux, P.2    Van Den Berghe, H.3    Tanghe, W.4    Proesmans, W.5
  • 11
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease
    • Drash A, Sherman F, Hartmann W, Blizzard RM (1970) A syndrome of pseudohermaphroditism, Wilms' tumor, hypertension and degenerative renal disease. J Pediatr 76: 585-593
    • (1970) J Pediatr , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Hartmann, W.3    Blizzard, R.M.4
  • 16
    • 0027342443 scopus 로고
    • Diffuse mesangial sclerosis: A congenital glomerulopathy with nephrotic syndrome
    • Habib R, Gubler MC, Antignac C, Gagnadoux MF (1993) Diffuse mesangial sclerosis: a congenital glomerulopathy with nephrotic syndrome. Adv Nephrol Necker Hosp 22: 43-57
    • (1993) Adv Nephrol Necker Hosp , vol.22 , pp. 43-57
    • Habib, R.1    Gubler, M.C.2    Antignac, C.3    Gagnadoux, M.F.4
  • 17
    • 0029797218 scopus 로고    scopus 로고
    • Genotype/phenotype correlations in Wilms' tumor
    • Huff V (1996) Genotype/phenotype correlations in Wilms' tumor. Med Pediatr Oncol 27:408-414
    • (1996) Med Pediatr Oncol , vol.27 , pp. 408-414
    • Huff, V.1
  • 18
    • 0028979148 scopus 로고
    • WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences
    • Huff V, Jaffe N, Saunders GF, Strong LC, Villalba F, Ruteshouser EC (1995) WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences. Am J Hum Genet 56:84-90
    • (1995) Am J Hum Genet , vol.56 , pp. 84-90
    • Huff, V.1    Jaffe, N.2    Saunders, G.F.3    Strong, L.C.4    Villalba, F.5    Ruteshouser, E.C.6
  • 19
    • 0025169598 scopus 로고
    • Clinicopathologic review of twelve children with nephropathy, Wilms tumor and genital abnormalities
    • Jadresic L, Leake J, Gordon I, Dillon MJ, Grant DB, Pritchard J, Risdon RA, et al (1990) Clinicopathologic review of twelve children with nephropathy, Wilms tumor and genital abnormalities. J Pediatr 117:717-725
    • (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
  • 20
    • 2642664516 scopus 로고    scopus 로고
    • Software and database for the analysis of mutations in the human WT1 gene
    • Jeanpierre C, Béroud C, Niaudet P, Junien C (1998) Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Res 26:271-274
    • (1998) Nucleic Acids Res , vol.26 , pp. 271-274
    • Jeanpierre, C.1    Béroud, C.2    Niaudet, P.3    Junien, C.4
  • 24
    • 0029071508 scopus 로고
    • Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing
    • Larsson SH, Charlieu J-P, Miyagawa K, Engelkamp D, Rassoulzadegan M, Ross A, Cuzin F, et al (1995) Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing. Cell 81:391-401
    • (1995) Cell , vol.81 , pp. 391-401
    • Larsson, S.H.1    Charlieu, J.-P.2    Miyagawa, K.3    Engelkamp, D.4    Rassoulzadegan, M.5    Ross, A.6    Cuzin, F.7
  • 27
    • 0030891372 scopus 로고    scopus 로고
    • A clinical overview of WT1 gene mutations
    • Little M, Wells C (1997) A clinical overview of WT1 gene mutations. Hum Mutat 9:209-225
    • (1997) Hum Mutat , vol.9 , pp. 209-225
    • Little, M.1    Wells, C.2
  • 30
    • 0028999664 scopus 로고
    • Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis
    • Nordenskjöld A, Fricke G, Anvret M (1995a) Absence of mutations in the WT1 gene in patients with XY gonadal dysgenesis. Hum Genet 96:102-104
    • (1995) Hum Genet , vol.96 , pp. 102-104
    • Nordenskjöld, A.1    Fricke, G.2    Anvret, M.3
  • 32
    • 0027518665 scopus 로고
    • A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome
    • Ogawa O, Eccles MR, Yun K, Mueller RF, Holdaway MDD, Reeve AE (1993) A novel insertional mutation at the third zinc finger coding region of the WT1 gene in Denys-Drash syndrome. Hum Mol Genet 2:203-204
    • (1993) Hum Mol Genet , vol.2 , pp. 203-204
    • Ogawa, O.1    Eccles, M.R.2    Yun, K.3    Mueller, R.F.4    Holdaway, M.D.D.5    Reeve, A.E.6
  • 33
    • 0025788974 scopus 로고
    • WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour
    • Pelletier J, Bruening W, Li FP, Haber DA, Glaser T, Housman DE (1991) WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour. Nature 353:431-434
    • (1991) Nature , vol.353 , pp. 431-434
    • Pelletier, J.1    Bruening, W.2    Li, F.P.3    Haber, D.A.4    Glaser, T.5    Housman, D.E.6
  • 37
    • 0029013180 scopus 로고
    • Nephropathy with Wilms tumour or gonadal dysgenesis: Incomplete Denys-Drash syndrome or separate diseases?
    • Schmitt K, Zabel B, Tulzer G, Eitelberger F, Pelletier J (1995) Nephropathy with Wilms tumour or gonadal dysgenesis: incomplete Denys-Drash syndrome or separate diseases? Eur J Pediatr 154:577-581
    • (1995) Eur J Pediatr , vol.154 , pp. 577-581
    • Schmitt, K.1    Zabel, B.2    Tulzer, G.3    Eitelberger, F.4    Pelletier, J.5
  • 38
    • 0030889197 scopus 로고    scopus 로고
    • Correlations of germline mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology
    • Schumacher V, Schneider S, Figgz A, Wildhardt G, Harms D, Schmidt D, Weirich A, et al (1997) Correlations of germline mutations and two-hit inactivation of the WT1 gene with Wilms tumors of stromal-predominant histology. Proc Natl Acad Sci USA 94:3972-3977
    • (1997) Proc Natl Acad Sci USA , vol.94 , pp. 3972-3977
    • Schumacher, V.1    Schneider, S.2    Figgz, A.3    Wildhardt, G.4    Harms, D.5    Schmidt, D.6    Weirich, A.7
  • 40
    • 0026526495 scopus 로고
    • The Wilms' tumor gene product, WT1, represses transcription of the platelet-derived growth factor A-chain gene
    • Wang Z-Y, Madden SL, Deuel TF, Rauscher FJ III (1992) The Wilms' tumor gene product, WT1, represses transcription of the platelet-derived growth factor A-chain gene. J Biol Chem 267:21999-22002
    • (1992) J Biol Chem , vol.267 , pp. 21999-22002
    • Wang, Z.-Y.1    Madden, S.L.2    Deuel, T.F.3    Rauscher III, F.J.4
  • 41
    • 0027286309 scopus 로고
    • The Wilms' tumor gene product WT1 activates or suppresses transcription through separate functional domains
    • Wang Z-Y, Qiu Q-Q, Deuel TF (1993) The Wilms' tumor gene product WT1 activates or suppresses transcription through separate functional domains. J Biol Chem 268:9172-9175
    • (1993) J Biol Chem , vol.268 , pp. 9172-9175
    • Wang, Z.-Y.1    Qiu, Q.-Q.2    Deuel, T.F.3
  • 42
    • 0028897181 scopus 로고
    • Products of alternative spliced transcripts of the Wilms' tumor suppressor gene, WT1, have altered DNA binding specificity and regulate transcription in different ways
    • Wang Z-Y, Qiu Q-Q, Huang J, Gurrieri M, Deuel T (1995) Products of alternative spliced transcripts of the Wilms' tumor suppressor gene, WT1, have altered DNA binding specificity and regulate transcription in different ways. Oncogene 10:415-422
    • (1995) Oncogene , vol.10 , pp. 415-422
    • Wang, Z.-Y.1    Qiu, Q.-Q.2    Huang, J.3    Gurrieri, M.4    Deuel, T.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.