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Volumn 57, Issue 5, 2000, Pages 1868-1872

WT1 splice-spite mutations are rarely associated with primary steroid- resistant focal and segmental glomerulosclerosis

Author keywords

Focal segmental glomerulosclerosis; Frasier syndrome; Nephrotic syndrome; Splice site mutations; Wilms' tumor gene

Indexed keywords

STEROID; CORTICOSTEROID; DNA BINDING PROTEIN; TRANSCRIPTION FACTOR; WT1 PROTEIN;

EID: 0033624770     PISSN: 00852538     EISSN: None     Source Type: Journal    
DOI: 10.1046/j.1523-1755.2000.00036.x     Document Type: Article
Times cited : (92)

References (21)
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    • 2. FUCHSHUBER A, JEAN G, GRIBOUVAL O, GUBLER MC, BROYER M, BECKMANN JS, NIAUDET P, ANTIGNAC C: Mapping a gene (SRN1) to chromosome 1q25-q31 in idiopathic nephrotic syndrome confirms a distinct entity of autosomal recessive nephrosis. Hum Mol Genet 4:2155-2158, 1995
    • (1995) Hum Mol Genet , vol.4 , pp. 2155-2158
    • Fuchshuber, A.1    Jean, G.2    Gribouval, O.3    Gubler, M.C.4    Broyer, M.5    Beckmann, J.S.6    Niaudet, P.7    Antignac, C.8
  • 6
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    • Frasier syndrome is caused by defective alternative splicing of WT1 leading to an altered ratio of WT1 +/-KTS splice isoforms
    • 6. 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 7:709-714, 1998
    • (1998) Hum Mol Genet , vol.7 , 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
    • 17344364993 scopus 로고    scopus 로고
    • 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
    • 12. 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 of genotype/phenotype correlations by use of a computerized mutation database. Am J Hum Genet 62:824-833, 1998
    • (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
  • 13
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    • A clinical overview of WT1 gene mutations
    • 13. LITTLE M, WELLS C: A clinical overview of WT1 gene mutations. Hum Mutat 9:209-225, 1997
    • (1997) Hum Mutat , vol.9 , pp. 209-225
    • Little, M.1    Wells, C.2
  • 21
    • 0033361892 scopus 로고    scopus 로고
    • Evidence for the genetic heterogeneity of nephrotic phenotypes associated with Denys-Drash and Frasier syndromes
    • 21. KOZIELL AB, GRUNDY R, BARRATT TM, SCAMBLER P: Evidence for the genetic heterogeneity of nephrotic phenotypes associated with Denys-Drash and Frasier syndromes. Am J Hum Genet 64:1778-1781, 1999
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.