메뉴 건너뛰기




Volumn 73, Issue 6, 2010, Pages 487-491

A female infant with Frasier syndrome showing splice site mutation in Wilms' tumor gene (WT1) intron 9

Author keywords

Frasier syndrome; Splice site mutation; WT1 intron 9

Indexed keywords

CORTICOSTEROID; CYCLOSPORIN; IMIDAPRIL; IMMUNOGLOBULIN M; WT1 PROTEIN;

EID: 77952645607     PISSN: 03010430     EISSN: None     Source Type: Journal    
DOI: 10.5414/CNP73487     Document Type: Article
Times cited : (9)

References (31)
  • 1
    • 33750117655 scopus 로고    scopus 로고
    • Essential roles of Sall family genes in kidney development
    • DOI 10.2170/physiolsci.M95
    • Nishinakamura R, Osafune K. Essential roles of Sall family genes in kidney development. J Physiol Sci. 2006; 56: 131-136. (Pubitemid 46955924)
    • (2006) Journal of Physiological Sciences , vol.56 , Issue.2 , pp. 131-136
    • Nishinakamura, R.1    Osafune, K.2
  • 3
    • 0025098654 scopus 로고
    • Homozygous deletion in Wilms tumours of a zinc-finger gene identified by chromosome jumping
    • DOI 10.1038/343774a0
    • Gessler M, Poustka A, Cavenee W, Neve RL, Orkin SH, Bruns GA. Homozygous deletion in Wilms tumors of a zinc-finger gene identified by chromosome jumping. Nature. 1990; 343: 774-778. (Pubitemid 20065258)
    • (1990) Nature , vol.343 , Issue.6260 , 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
  • 5
    • 0037443035 scopus 로고    scopus 로고
    • Pre-mRNA splicing and human disease
    • Faustino NA, Cooper TA. Pre-mRNA splicing and human disease. Genes Dev. 2003; 15: 419-437.
    • (2003) Genes Dev , vol.15 , pp. 419-437
    • Faustino, N.A.1    Cooper, T.A.2
  • 6
    • 7644239147 scopus 로고    scopus 로고
    • +/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human denys-drash syndrome
    • DOI 10.1128/MCB.24.22.9899-9910.2004
    • Gao F, Maiti S, Sun G, Ordonez NG, Udtha M, Deng JM, Behringer RR, Huff V. The Wt1+/R394W mouse displays glomerulosclerosis and early-onset renal failure characteristic of human Denys-Drash syndrome. Mol Cell Biol. 2004; 24: 9899-9910. (Pubitemid 39458815)
    • (2004) Molecular and Cellular Biology , vol.24 , Issue.22 , pp. 9899-9910
    • Gao, F.1    Maiti, S.2    Sun, G.3    Ordonez, N.G.4    Udtha, M.5    Jian, M.D.6    Behringer, R.R.7    Huff, V.8
  • 9
    • 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
    • DOI 10.1093/hmg/7.4.709
    • Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M. 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. (Pubitemid 28152270)
    • (1998) Human Molecular Genetics , vol.7 , Issue.4 , pp. 709-714
    • Klamt, B.1    Koziell, A.2    Poulat, F.3    Wieacker, P.4    Scambler, P.5    Berta, P.6    Gessler, M.7
  • 12
    • 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
    • DOI 10.1093/hmg/7.4.709
    • Klamt B, Koziell A, Poulat F, Wieacker P, Scambler P, Berta P, Gessler M. 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. (Pubitemid 28152270)
    • (1998) Human Molecular Genetics , vol.7 , Issue.4 , pp. 709-714
    • Klamt, B.1    Koziell, A.2    Poulat, F.3    Wieacker, P.4    Scambler, P.5    Berta, P.6    Gessler, M.7
  • 20
    • 0031800728 scopus 로고    scopus 로고
    • Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome
    • DOI 10.1038/ng0598-47
    • Dreyer SD, Zhou G, Baldini A, Winterpacht A, Zabel B, Cole W, Johnson RL, Lee B. Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome. Nat Genet. 1998; 19: 47-50. (Pubitemid 28242021)
    • (1998) Nature Genetics , vol.19 , Issue.1 , pp. 47-50
    • Dreyer, S.D.1    Zhou, G.2    Baldini, A.3    Winterpacht, A.4    Zabel, B.5    Cole, W.6    Johnson, R.L.7    Lee, B.8
  • 25
    • 42149106794 scopus 로고    scopus 로고
    • The spectrum of focal segmental glomerulosclerosis: New insights
    • DOI 10.1097/MNH.0b013e3282f94a96, PII 0004155220080500000006
    • D'Agati VD. The spectrum of focal segmental glomerulosclerosis: new insights. Curr Opin Nephrol Hypertens. 2008; 17: 271-281. (Pubitemid 351535930)
    • (2008) Current Opinion in Nephrology and Hypertension , vol.17 , Issue.3 , pp. 271-281
    • D'Agati, V.D.1
  • 26
    • 0037087593 scopus 로고    scopus 로고
    • WT1 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. WT1 is a key regulator of podocyte function: reduced expression levels cause crescentic glomerulonephritis and mesangial sclerosis. Hum Mol Genet. 2002; 15: 651-659. (Pubitemid 34285136)
    • (2002) Human Molecular Genetics , vol.11 , Issue.6 , 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
  • 27
    • 0035839099 scopus 로고    scopus 로고
    • Two splice variants of the wilms' tumor 1 gene have distinct functions during sex determination and nephron formation
    • DOI 10.1016/S0092-8674(01)00453-6
    • Hammes A, Guo JK, Lutsch G, Leheste JR, Landrock D, Ziegler U, Gubler MC, Schedl A. Two splice variants of the Wilms' tumor 1 gene have distinct functions during sex determination and nephron formation. Cell. 2001; 10: 319-329. (Pubitemid 32772616)
    • (2001) Cell , vol.106 , Issue.3 , pp. 319-329
    • Hammes, A.1    Guo, J.-K.2    Lutsch, G.3    Leheste, J.-R.4    Landrock, D.5    Ziegler, U.6    Gubler, M.-C.7    Schedl, A.8
  • 28
    • 0037099299 scopus 로고    scopus 로고
    • The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1
    • DOI 10.1101/gad.220102
    • Wilhelm D, Englert C. The Wilms tumor suppressor WT1 regulates early gonad development by activation of Sf1. Genes Dev. 2002; 16: 1839-1851. (Pubitemid 34803899)
    • (2002) Genes and Development , vol.16 , Issue.14 , pp. 1839-1851
    • Wilhelm, D.1    Englert, C.2
  • 29
    • 0344307269 scopus 로고    scopus 로고
    • Role of Wilms Tumor 1 (WT1) in the Transcriptional Regulation of the Mullerian-Inhibiting Substance Promoter
    • DOI 10.1095/biolreprod.103.015826
    • Hossain A, Saunders GF. Role of Wilms tumor 1 (WT1) in the transcriptional regulation of the Mullerian-inhibiting substance promoter. Biol Reprod. 2003; 69: 1808-1814. (Pubitemid 37505323)
    • (2003) Biology of Reproduction , vol.69 , Issue.6 , pp. 1808-1814
    • Hossain, A.1    Saunders, G.F.2
  • 31
    • 0345118133 scopus 로고    scopus 로고
    • Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1
    • Matsuzawa-Watanabe Y, Inoue J, Semba K. Transcriptional activity of testis-determining factor SRY is modulated by the Wilms' tumor 1 gene product, WT1. Oncogene. 2003; 22: 7900-7904.
    • (2003) Oncogene , vol.22 , pp. 7900-7904
    • Matsuzawa-Watanabe, Y.1    Inoue, J.2    Semba, K.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.