TitleSoftware and database for the analysis of mutations in the human WT1 gene.
Publication TypeJournal Article
Year of Publication1998
AuthorsJeanpierre C, Béroud C, Niaudet P, Junien C
JournalNucleic acids research
Volume26
Pagination271–274
Date Publishedjan
Abstract

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.

URLhttp://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&id=9399851&retmode=ref&cmd=prlinks
PubMed ID9399851
cea
cnrs
inrae
inserm
logo-investissements