Linked Life Data

1302008

Source:http://linkedlifedata.com/resource/pubmed/id/1302008

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
1993-6-10
pubmed:abstractText
Denys-Drash syndrome is a rare human developmental disorder affecting the urogenital system and leading to renal failure, intersex disorders and Wilms' tumour. In this report, four individuals with this syndrome are described carrying germline point mutations in the Wilms' tumour suppressor gene, WT1. Three of these mutations were in the zinc finger domains of WT1. The fourth occurred within intron 9, preventing splicing at one of the alternatively chosen splice donor sites of exon 9 when assayed in vitro. These results provide genetic evidence for distinct functional roles of the WT1 isoforms in urogenital development.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
May
pubmed:issn
1061-4036
pubmed:author
pubmed:issnType
Print
pubmed:volume
1
pubmed:geneSymbol
WT1
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
144-8
pubmed:dateRevised
2006-11-15
pubmed:meshHeading
pubmed:year
1992
pubmed:articleTitle
Germline intronic and exonic mutations in the Wilms' tumour gene (WT1) affecting urogenital development.
pubmed:affiliation
Division of Pediatric Endocrinology, Children's Memorial Hospital, Chicago, Illinois 60614.
pubmed:publicationType
Journal Article, Case Reports, Research Support, Non-U.S. Gov't