| http://purl.uniprot.org/citations/18072270 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18072270 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/18072270 | http://www.w3.org/2000/01/rdf-schema#comment | "Schwannomatosis is characterized by the onset of multiple intracranial, spinal, or peripheral schwannomas, without involvement of the vestibular nerve, which is instead pathognomonic of neurofibromatosis type 2 (NF2). Recently, a schwannomatosis family with a germline mutation of the SMARCB1 gene on chromosome 22 has been described. We report on the molecular analysis of the SMARCB1 and NF2 genes in a series of 21 patients with schwannomatosis and in eight schwannomatosis-associated tumors from four different patients. A novel germline SMARCB1 mutation was found in one patient; inactivating somatic mutations of NF2, associated with loss of heterozygosity (LOH) of 22q, were found in two schwannomas of this patient. This is the second report of a germline SMARCB1 mutation in patients affected by schwannomatosis and the first report of SMARCB1 mutations associated with somatic NF2 mutations in schwannomatosis-associated tumors. The latter observation suggests that a four-hit mechanism involving the SMARCB1 and NF2 genes may be implicated in schwannomatosis-related tumorigenesis."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20679"xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.org/dc/terms/identifier | "doi:10.1002/humu.20679"xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Papi L."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Papi L."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Sestini R."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Sestini R."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Genuardi M."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Genuardi M."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Bacci C."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Bacci C."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Provenzano A."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/author | "Provenzano A."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/date | "2008"xsd:gYear |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/name | "Hum. Mutat."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/pages | "227-231"xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/pages | "227-231"xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/title | "Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/title | "Evidence of a four-hit mechanism involving SMARCB1 and NF2 in schwannomatosis-associated schwannomas."xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/volume | "29"xsd:string |
| http://purl.uniprot.org/citations/18072270 | http://purl.uniprot.org/core/volume | "29"xsd:string |