UI - 11954756
AU - Shimoyama H; Nakajima M; Naka H; Park YD; Hori K; Morikawa H; Yoshioka A
A girl with bilateral ovarian tumours: Frasier syndrome.
SO - Eur J Pediatr 2002 Feb;161(2):81-3
AD - Department of Paediatrics, Nara Medical University, Kashihara City,
Frasier syndrome (FS) is characterised by male pseudohermaphroditism,
slowly progressing nephropathy and frequent development of
gonadoblastoma. The Wilms' tumour suppressor gene (WT1 gene) plays an
important role in the development of the urogenital system and the
gonads. A splice mutation in intron 9 of the WT1 gene was recently
described in patients with FS. We analysed the WT1 gene of a Japanese
patient with male pseudohermaphroditism, steroid resistant-nephr-opathy
and gonadoblastoma by the polymerase chain reaction and direct
sequencing and detected a heterozygous point mutation in intron 9.
CONCLUSION: analysis of the Wilms' tumour suppressor gene in a patient
with Frasier syndrome by the polymerase chain reaction and direct
sequencing detected a + 5G -->A transition at a position of the second
alternative splice region of exon 9, important for predicting the risk
of the occurrence of Wilms' tumour.
UI - 1756408
AU - Martinerie C; Perbal B
Expression of a gene encoding a novel potential IGF binding protein in
SO - C R Acad Sci III 1991;313(8):345-51
AD - Laboratoire d'Oncologie virale et moleculaire, Institut Curie, Centre
We have shown in a previous study that the expression of an as yet
unidentified, embryonic gene (nov) encoding a potential IGF binding
protein was upregulated in all of eight virally-induced avian
nephroblastomas tested. We now report that homologous sequences are
conserved in human DNA and are expressed in normal human bone marrow,
thymic cells and in one nephroblastoma.
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