메뉴 건너뛰기




Volumn 52, Issue 4, 2000, Pages 519-524

Frasier syndrome, part of the Denys Drash continuum or simply a WT1 gene associated disorder of intersex and nephropathy?

Author keywords

[No Author keywords available]

Indexed keywords

ADOLESCENT; ARTICLE; CASE REPORT; DENYS DRASH SYNDROME; FEMALE; GENE MUTATION; HERMAPHRODITISM; HUMAN; INTRON; KIDNEY DISEASE; NEPHROBLASTOMA; PRIORITY JOURNAL; PROGNOSIS; SYNDROME DELINEATION;

EID: 0034062236     PISSN: 03000664     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1365-2265.2000.00980.x     Document Type: Article
Times cited : (45)

References (30)
  • 2
    • 0026470288 scopus 로고
    • Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome
    • Baird, P.N., Groves, N., Haber, D.A., Housman, D.E. & Cowell, J.K. (1992) Identification of mutations in the WT1 gene in tumours from patients with the WAGR syndrome. Oncogene, 7, 2141-2149.
    • (1992) Oncogene , vol.7 , pp. 2141-2149
    • Baird, P.N.1    Groves, N.2    Haber, D.A.3    Housman, D.E.4    Cowell, J.K.5
  • 5
    • 0032052293 scopus 로고    scopus 로고
    • Overlapping RNA and DNA binding domains of the WT1 tumor suppressor gene product
    • Bardeesy, N. & Pelletier, J. (1998) Overlapping RNA and DNA binding domains of the WT1 tumor suppressor gene product. Nucleic Acids Research, 26, 1784-1792.
    • (1998) Nucleic Acids Research , vol.26 , pp. 1784-1792
    • Bardeesy, N.1    Pelletier, J.2
  • 7
    • 0029991989 scopus 로고    scopus 로고
    • A non-AUG translational initiation event generates novel WT1 isoforms
    • Bruening, W. & Pelletier, J. (1996) A non-AUG translational initiation event generates novel WT1 isoforms. Journal of Biological Chemistry, 271, 8646-8654.
    • (1996) Journal of Biological Chemistry , vol.271 , pp. 8646-8654
    • Bruening, W.1    Pelletier, J.2
  • 9
    • 0014119131 scopus 로고
    • Association d'un syndrome anatomo x pathologique de pseudo-hermaphrodisme 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. (1967) Association d'un syndrome anatomo x pathologique de pseudo-hermaphrodisme masculin, d'un tumeur de Wilms' d'un nephropathie parenchymarteuse et d'un mosaicisme XX/XY. Archives Francaises de Pediatrie, 24, 729-739.
    • (1967) Archives Francaises de Pediatrie , vol.24 , pp. 729-739
    • Denys, P.1    Malvaux, P.2    Van den Berghe, H.3    Tanghe, W.4    Proemans, W.5
  • 10
    • 0014775569 scopus 로고
    • A syndrome of pseudohermaphroditism, Wilm's tumour, hypertension and degenerative renal disease
    • Drash, A., Sherman, F., Harmann, W. & Blizzard, R. (1970) A syndrome of pseudohermaphroditism, Wilm's tumour, hypertension and degenerative renal disease. Journal of Pediatrics, 76, 585-593.
    • (1970) Journal of Pediatrics , vol.76 , pp. 585-593
    • Drash, A.1    Sherman, F.2    Harmann, W.3    Blizzard, R.4
  • 11
    • 0000786264 scopus 로고
    • Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins
    • Frasier, S.D., Bashore, R.A. & Mosier, H.D. (1964) Gonadoblastoma associated with pure gonadal dysgenesis in monozygous twins. Journal of Pediatrics, 64, 740-745.
    • (1964) Journal of Pediatrics , vol.64 , pp. 740-745
    • Frasier, S.D.1    Bashore, R.A.2    Mosier, H.D.3
  • 12
    • 0025098654 scopus 로고
    • Homozygous deletions in Wilms' tumours of a zink - finger gene identified by chromosome jumping
    • Gessler, M., Poustka, A., Cavenee, W., Neve, R.L., Orkin, S.H. & Bruns, G.A.P. (1990) Homozygous deletions in Wilms' tumours of a zink - finger gene identified by chromosome jumping. Nature, 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.P.6
  • 14
    • 0022357227 scopus 로고
    • The nephropathy associated with male pseudohermaphroditism and Wilms' tumour (Drash syndrome): A distinctive glomerular lesion - report of 10 cases
    • Habib, R., Loirat, C., Gubler, M.C., Niaudet, P., Bensma, A., Levy, M. & Breyer, M. (1985) The nephropathy associated with male pseudohermaphroditism and Wilms' tumour (Drash syndrome): a distinctive glomerular lesion - report of 10 cases. Clinical Nephrology, 24, 269-278.
    • (1985) Clinical Nephrology , vol.24 , pp. 269-278
    • Habib, R.1    Loirat, C.2    Gubler, M.C.3    Niaudet, P.4    Bensma, A.5    Levy, M.6    Breyer, M.7
  • 15
    • 0030726468 scopus 로고    scopus 로고
    • Gonadoblastoma: Immunohistochemical localization of mullerian-inhibiting substance, inhibin, WT-1, and p53
    • Hussong, J., Crussi, F.G. & Chou, P.M. (1997) Gonadoblastoma: immunohistochemical localization of Mullerian-inhibiting substance, inhibin, WT-1, and p53. Mod Pathology, 10, 1101-1105.
    • (1997) Mod Pathology , vol.10 , pp. 1101-1105
    • Hussong, J.1    Crussi, F.G.2    Chou, P.M.3
  • 17
    • 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. (1998b) Software and database for the analysis of mutations in the human WT1 gene. Nucleic Acids Research, 26, 271-274.
    • (1998) Nucleic Acids Research , vol.26 , pp. 271-274
    • Jeanpierre, C.1    Beroud, C.2    Niaudet, P.3    Junien, C.4
  • 19
    • 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, A.B., Poulat, F., Wieacker, P., Scambler, P., Berta, P. & Gessler, M. (1998) Frasier syndrome is caused by defective alternative splicing leading to an altered ratio of WT1 +/-KTS splice isoforms. Human Molecular Genetics, 7, 709-714.
    • (1998) Human Molecular Genetics , vol.7 , pp. 709-714
    • Klamt, B.1    Koziell, A.B.2    Poulat, F.3    Wieacker, P.4    Scambler, P.5    Berta, P.6    Gessler, M.7
  • 22
    • 0023477994 scopus 로고
    • Chronic renal failure and XY gonadal dysgenesis: Frasier syndrome - a commentary on reported cases
    • Moorthy, A.V., Chensey, R.W. & Lubinsky, M. (1987) Chronic renal failure and XY gonadal dysgenesis: Frasier syndrome - a commentary on reported cases. American Journal of Medical Genetics, 3(Suppl.), 297-302.
    • (1987) American Journal of Medical Genetics , vol.3 , Issue.SUPPL. , pp. 297-302
    • Moorthy, A.V.1    Chensey, R.W.2    Lubinsky, M.3
  • 23
  • 25
    • 0032076964 scopus 로고    scopus 로고
    • Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex - specific gene expression
    • Nachtigal, M.W., Hirokawa, Y., Enyert Van Houten, D.L., Flanagan, J.N., Hammer, G.D. & Ingraham, H. (1998) Wilms' tumor 1 and Dax-1 modulate the orphan nuclear receptor SF-1 in sex - specific gene expression. Cell, 93, 445-454.
    • (1998) Cell , vol.93 , pp. 445-454
    • Nachtigal, M.W.1    Hirokawa, Y.2    Enyert van Houten, D.L.3    Flanagan, J.N.4    Hammer, G.D.5    Ingraham, H.6
  • 26
    • 0029915123 scopus 로고    scopus 로고
    • Multiple drug resistance-related messenger RNA expression in archival formalin-fixed paraffin-embedded human breast tumour tissue
    • O'Driscoll, L., Kennedy, S., McDermott, E., Kelehan, P. & Clynes, M. (1996) Multiple drug resistance-related messenger RNA expression in archival formalin-fixed paraffin-embedded human breast tumour tissue. European Journal of Cancer, 32A, 128-133.
    • (1996) European Journal of Cancer , vol.32 A , pp. 128-133
    • O'Driscoll, L.1    Kennedy, S.2    McDermott, E.3    Kelehan, P.4    Clynes, M.5
  • 28
    • 0018953627 scopus 로고
    • Evidence for dissociation between adrenarche and gonadarche: Studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence
    • Sklar, C.A., Kaplan, S.L. & Grumbach, M.M. (1980) Evidence for dissociation between adrenarche and gonadarche: studies in patients with idiopathic precocious puberty, gonadal dysgenesis, isolated gonadotropin deficiency, and constitutionally delayed growth and adolescence. Journal of Clinical Endocrinology and Metabolism, 51, 548-556.
    • (1980) Journal of Clinical Endocrinology and Metabolism , vol.51 , pp. 548-556
    • Sklar, C.A.1    Kaplan, S.L.2    Grumbach, M.M.3
  • 29
    • 0022505326 scopus 로고
    • Adrenarche is dissociated from gonadarche - studies in patients with Turner's syndrome
    • Teller, W.M., Homoki, J., Wudy, S. & Schlickenrieder, J.H. (1986) Adrenarche is dissociated from gonadarche - studies in patients with Turner's syndrome. Acta Endocrinologica, 279, 232-240.
    • (1986) Acta Endocrinologica , vol.279 , pp. 232-240
    • Teller, W.M.1    Homoki, J.2    Wudy, S.3    Schlickenrieder, J.H.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.