Linked Life Data

16814811

Source:http://linkedlifedata.com/resource/pubmed/id/16814811

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
1-2
pubmed:dateCreated
2006-10-18
pubmed:abstractText
To determine whether PAX-2 and PAX-8 are involved in Wilms tumor (WT) pathogenesis, we sought mutations in these two genes in 99 Wilms tumors of favorable histology. We screened the entire protein coding sequences as well as the intronic regions adjacent to exons, using denaturing HPLC followed by sequencing of samples displaying abnormal chromatograms. In PAX-2, a silent polymorphism was found within exon 2 and exon 8 in 1% and 21% of cases, respectively. Three apparently silent polymorphisms were also found in PAX-8, two in exon 5 (2 of 99 cases or 2%) and one in exon 6 (22 of 99 cases or 22%), all of which were located 3' to the exons. In conclusion, no evidence for disease causing mutation was found using this technique, and so the direct involvement of either of these two genes in WT is unlikely.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Oct
pubmed:issn
0027-5107
pubmed:author
pubmed:issnType
Print
pubmed:day
10
pubmed:volume
601
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
46-50
pubmed:meshHeading
pubmed:year
2006
pubmed:articleTitle
Paired box genes, PAX-2 and PAX-8, are not frequently mutated in Wilms tumor.
pubmed:affiliation
Department of Pediatrics and Experimental Oncology, Cross Cancer Institute and the University of Alberta, Edmonton, Alta, Canada. ytamimi@ualberta.ca
pubmed:publicationType
Journal Article