| http://purl.uniprot.org/citations/10666372 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10666372 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/10666372 | http://www.w3.org/2000/01/rdf-schema#comment | "The cerebellar medulloblastoma (WHO Grade IV) is a highly malignant, invasive embryonal tumor with preferential manifestation in children. Several molecular alterations appear to be involved, including isochromosome 17q and the p53, PTCH, and beta-catenin gene mutations. In this study, 46 sporadic medulloblastomas were screened for the presence of mutations in genes of the Wnt signaling pathway (APC and beta-catenin). Single-strand conformational polymorphism (SSCP) analysis followed by direct DNA sequencing revealed 3 miscoding APC mutations in 2 (4.3%) medulloblastomas. One case contained a GCA-->GTA mutation at codon 1296 (Ala-->Val), and another case had double point mutations at codons 1472 (GTA-->ATA, Val-->Ile) and 1495 (AGT-->GGT, Ser-->Gly). Miscoding beta-catenin mutations were detected in 4 tumors (8.7%). Three of these were located at codon 33 (TCT -->TTT, Ser-->Phe) and another at codon 37 (TCT-->GCT, Ser-->Ala). Adenomatous polyposis coli (APC) gene and beta-catenin mutations were mutually exclusive and occurred in a total of 6 of 46 cases (13%). Although germline APC mutations are a well established cause of familial colon and brain tumors (Turcot syndrome), this study provides the first evidence that APC mutations are also operative in a subset of sporadic medulloblastomas."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0002-9440(10)64747-5"xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0002-9440(10)64747-5"xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Huang H."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Huang H."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Chimelli L."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Chimelli L."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Kleihues P."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Kleihues P."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Mahler-Araujo B.M."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Mahler-Araujo B.M."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Ohgaki H."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Ohgaki H."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Sankila A."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Sankila A."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Yonekawa Y."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/author | "Yonekawa Y."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/name | "Am. J. Pathol."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/name | "Am. J. Pathol."xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/pages | "433-437"xsd:string |
| http://purl.uniprot.org/citations/10666372 | http://purl.uniprot.org/core/pages | "433-437"xsd:string |