Marfan Database (second edition): software and database for the analysis of mutations in the human FBN1 gene

The WT1 gene, located at 11p13, encodes a zinc finger transcription factor involved in renal and gonadal development and in Wilms' tumor. Constitutional mutations of this gene have been described in most patients with Denys Drash syndrome (mesangial sclerosis associated with male pseudohermaphrodism and/or Wilms' tumor), but also in patients with genitourinary abnormalities and Wilms' tumor (WT) or presenting with only unilateral or bilateral WT. Moreover, approximately 10% of Wilms' tumors carry WT1 mutations at the somatic level. To facilitate the genotype-phenotype correlation analyses, we have created a software package along with a computerized database of germline (70 entries) and somatic (28 entries) mutations reported in the literature.

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[6]  Z. Wang,et al.  Products of alternatively spliced transcripts of the Wilms' tumor suppressor gene, wt1, have altered DNA binding specificity and regulate transcription in different ways. , 1995, Oncogene.

[7]  G I Bell,et al.  Repression of the insulin-like growth factor II gene by the Wilms tumor suppressor WT1. , 1992, Science.

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[13]  V. Sukhatme,et al.  DNA recognition by splicing variants of the Wilms' tumor suppressor, WT1 , 1994, Molecular and cellular biology.

[14]  V. Chow,et al.  The third zinc finger of the WT1 gene is mutated in Wilms' tumour but not in a broad range of other urogenital tumours. , 1993, Anticancer research.

[15]  L. Strong,et al.  WT1 exon 1 deletion/insertion mutations in Wilms tumor patients, associated with di- and trinucleotide repeats and deletion hotspot consensus sequences. , 1995, American journal of human genetics.

[16]  W. Bickmore,et al.  Modulation of DNA binding specificity by alternative splicing of the Wilms tumor wt1 gene transcript. , 1992, Science.

[17]  N F Cariello,et al.  Database and software for the analysis of mutations in the human p53 gene. , 1994, Cancer research.

[18]  E. Friedman,et al.  Constitutional and somatic mutations in the WTI gene in wilms' tumor patients , 1995, International journal of cancer.

[19]  K. Miyagawa,et al.  Subnuclear localization of WT1 in splicing or transcription factor domains is regulated by alternative splicing , 1995, Cell.

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[21]  D. Housman,et al.  WT1 mutations contribute to abnormal genital system development and hereditary Wilms' tumour , 1991, Nature.

[22]  C. Hayward,et al.  A novel mutation in the fibrillin gene (FBN1) in familial arachnodactyly. , 1994, Molecular and cellular probes.

[23]  Z. Wang,et al.  The Wilms' tumor gene product, WT1, represses transcription of the platelet-derived growth factor A-chain gene. , 1992, The Journal of biological chemistry.

[24]  Y. Akasaka,et al.  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 , 1993, FEBS letters.

[25]  K. Devriendt,et al.  Diaphragmatic hernia in Denys-Drash syndrome. , 1995, American journal of medical genetics.

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[27]  I. Hughes,et al.  Mutational screening of the Wilms's tumour gene, WT1, in males with genital abnormalities. , 1993, Journal of medical genetics.

[28]  Christophe Béroud,et al.  Software and database for the analysis of mutations in the human LDL receptor gene , 1997, Nucleic Acids Res..