| http://purl.uniprot.org/citations/20137775 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20137775 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/20137775 | http://www.w3.org/2000/01/rdf-schema#comment | "Rhabdoid tumors of early infancy are highly aggressive with consequent poor prognosis. Most cases show inactivation of the SMARCB1 (also known as INI1 and hSNF5) tumor suppressor, a core member of the ATP-dependent SWI/SNF chromatin-remodeling complex. Familial cases, described as rhabdoid tumor predisposition syndrome (RTPS), have been linked to heterozygous SMARCB1 germline mutations. We identified inactivation of another member of the SWI/SNF chromatin-remodeling complex, its ATPase subunit SMARCA4 (also known as BRG1), due to a SMARCA4/BRG1 germline mutation and loss of heterozygosity by uniparental disomy in the tumor cells of two sisters with rhabdoid tumors lacking SMARCB1 mutations. SMARCA4 is thus a second member of the SWI/SNF complex involved in cancer predisposition. Its general involvement in other tumor entities remains to be established."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.01.013"xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.org/dc/terms/identifier | "doi:10.1016/j.ajhg.2010.01.013"xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Siebert R."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Siebert R."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Schneppenheim R."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Schneppenheim R."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Obser T."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Obser T."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Oyen F."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Oyen F."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Gesk S."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Gesk S."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Leuschner I."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Leuschner I."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Fruhwald M.C."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Fruhwald M.C."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Hasselblatt M."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Hasselblatt M."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Jeibmann A."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Jeibmann A."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Kordes U."xsd:string |
| http://purl.uniprot.org/citations/20137775 | http://purl.uniprot.org/core/author | "Kordes U."xsd:string |