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Titolo:
Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas
Autore:
Dahmen, RP; Koch, A; Denkhaus, D; Tonn, JC; Sorensen, N; Berthold, F; Behrens, J; Birchmeier, W; Wiestler, OD; Pietsch, T;
Indirizzi:
Univ Bonn, Med Ctr, Dept Neuropathol, D-53105 Bonn, Germany Univ Bonn Bonn Germany D-53105 , Dept Neuropathol, D-53105 Bonn, Germany Univ Munich, Dept Neurosurg, D-81377 Munich, Germany Univ Munich Munich Germany D-81377 pt Neurosurg, D-81377 Munich, Germany Univ Wurzburg, Dept Pediat Neurosurg, D-97080 Wurzburg, Germany Univ Wurzburg Wurzburg Germany D-97080 rosurg, D-97080 Wurzburg, Germany Univ Cologne, Dept Pediat Hematol Oncol, D-50924 Cologne, Germany Univ Cologne Cologne Germany D-50924 tol Oncol, D-50924 Cologne, Germany Univ Erlangen Nurnberg, Dept Expt Med 2, D-91054 Erlangen, Germany Univ Erlangen Nurnberg Erlangen Germany D-91054 -91054 Erlangen, Germany Max Delbruck Ctr Mol Med, D-13092 Berlin, Germany Max Delbruck Ctr Mol Med Berlin Germany D-13092 D-13092 Berlin, Germany
Titolo Testata:
CANCER RESEARCH
fascicolo: 19, volume: 61, anno: 2001,
pagine: 7039 - 7043
SICI:
0008-5472(20011001)61:19<7039:DOAACO>2.0.ZU;2-Q
Fonte:
ISI
Lingua:
ENG
Soggetto:
ADENOMATOUS POLYPOSIS-COLI; WNT SIGNALING PATHWAY; GLYCOGEN-SYNTHASE KINASE-3-BETA; PROTEIN PHOSPHATASE 2A; BETA-CATENIN; GSK-3-BETA-DEPENDENT PHOSPHORYLATION; NEGATIVE REGULATOR; TUMOR-SUPPRESSOR; DOWN-REGULATION; GENE-PRODUCT;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Life Sciences
Citazioni:
43
Recensione:
Indirizzi per estratti:
Indirizzo: Pietsch, T Univ Kliniken Bonn, Inst Neuropathol, Sigmund Freud St 25, D-53105 Bonn, Germany Univ Kliniken Bonn Sigmund Freud St 25 Bonn Germany D-53105 ny
Citazione:
R.P. Dahmen et al., "Deletions of AXIN1, a component of the WNT/wingless pathway, in sporadic medulloblastomas", CANCER RES, 61(19), 2001, pp. 7039-7043

Abstract

Medulloblastoma (MB.) represents the most frequent malignant brain tumor in children. Most MBs appear sporadically; however, their incidence is highly elevated in two inherited tumor predisposition syndromes, Gorlin's and Turcot's syndrome. The genetic defects responsible for these diseases have been identified. Whereas Gorlin's syndrome patients carry germ-line mutationsin the patched (PTCH) gene, Turcot's syndrome patients with MBs carry germ-line mutations of the adenomatous polyposis coli (APC) gene. The APC gene product is a component of a multiprotein complex controlling beta -catenin degradation. In this complex, Axin plays a major role as scaffold protein. Whereas A-PC mutations are rare in sporadic MBs, a hot-spot region of beta -catenin (CTNNB1) mutations was identified in a subset of MBs. To find out if Axin is also involved in the pathogenesis of sporadic MBs, we analyzed 86 MBs and 11 MB cell lines for mutations in the AXIN1 gene. Using single-strand conformation polymorphism analysis, screening for large deletions by reverse transcription-PCR, and sequencing analysis, a single somatic point mutation in exon 1 (Pro255Ser) and seven large deletions (12%) of AXIN1 weredetected. This indicates that AXIN1 may function as a tumor suppressor gene in MBs.

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Documento generato il 09/07/20 alle ore 14:19:33