4993
1993
eng
article
1
2011-08-18
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Homozygous inactivation of WTI in a Wilms' tumor associated with the WAGR syndrome
Wilms' tumor is a childhood nephroblastoma that is postulated to arise through the inactivation of a tumor suppressor gene by a two-hit mechanism. A candidate II p 13 Wilms' tumor gene, WTI, has been cloned and shown to encode a zinc finger protein. Patients with the WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities, and mental retardation) have a high risk of developing Wilms' tumor and they carry constitutional deletions of one chromosome II allele encompassing the WTI gene. Analysis of the remaining WTI allele in a Wilms' tumor from a WAGR patient revealed the deletion of a single nucleotide in exon 7. This mutation likely played a key role in tumor formation, as it prevents translation of the DNA-binding zinc finger domain that is essential for the function of the WTI polypeptide as a transcriptional regulator.
urn:nbn:de:bvb:20-opus-59146
5914
In: Genes Chromosomes & Cancer (1993) 7, S. 131 - 136.
Deutsches Urheberrecht
Manfred Gessler
Anja Konig
Jay Moore
Steven Qualman
Karen Arden
Webster Cavenee
Gail Bruns
deu
swd
Biochemie
Biowissenschaften; Biologie
open_access
Theodor-Boveri-Institut für Biowissenschaften
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/4993/Gessler07.pdf
5001
1993
eng
article
1
2011-08-23
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Further evidence that imbalance of WT1 isoforms may be involved in Denys-Drash syndrome
No abstract available
urn:nbn:de:bvb:20-opus-59167
5916
In: Human Molecular Genetics (1993) 2, 11, S. 1967 - 1968.
Deutsches Urheberrecht
Anja Konig
Sybille Jakubiczka
Peter Wieacker
Hans W. Schlösser
Manfred Gessler
deu
swd
Biochemie
Biowissenschaften; Biologie
open_access
Theodor-Boveri-Institut für Biowissenschaften
Universität Würzburg
https://opus.bibliothek.uni-wuerzburg.de/files/5001/Gessler09.pdf