Linked Life Data

15357247

Source:http://linkedlifedata.com/resource/pubmed/id/15357247

Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
2
pubmed:dateCreated
2004-9-10
pubmed:abstractText
The study of the gonads of 8 cases of Drash syndrome (6 ambiguous males, 2 females) and of 2 Frasier syndrome shows that WT1 mutations gives a dysgenetic testis which is the cause of the genital ambiguity observed at birth. By contrast the same mutations have no effect on ovary development giving normal females. However intron mutations in KTS with isoforms imbalance of WT1 proteins cause streak gonads with a female phenotype in XY patients. In consequence WT1 mutations are the cause of a spectrum of male genital malformations associated with glomerulonephritis and tumors. The absence of WT1 protein detection in sertoli cells shown by immunohistochemistry for 3 cases suggests an imprinting effect of the normal WT1 allele promotor rather than a low level of protein production. A caryotype is mandatory for a correct diagnosis.
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0004-1955
pubmed:author
pubmed:issnType
Print
pubmed:volume
65
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
40-4
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:articleTitle
Gonad development in Drash and Frasier syndromes depends on WT1 mutations.
pubmed:affiliation
Service d'Anatomie et de Cytologie Pathologiques, Hôpital Necker-Enfants-Malades, 75743 Paris Cedex 15 (AP-HP, Université René Descartes), France.
pubmed:publicationType
Journal Article