| http://purl.uniprot.org/citations/22453916 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22453916 | http://www.w3.org/2000/01/rdf-schema#comment | "Familial Mediterranean fever is an autosomal recessive disease occurring in populations originating from the Mediterranean basin. This autoinflammatory syndrome is caused by mutations in the Mediterranean FeVer (MEFV) gene. MEFV encodes a 781 amino acid protein known as pyrin. Pyrin is an important modulator of apoptosis, inflammation, and cytokine processing. In more recent pilot studies, inherited variant analysis of the MEFV gene in patients with hematologic neoplasm showed an unexpectedly high frequency of these variants in the gene. Here, we summarize the current state of knowledge of the relationship between inherited variants in the MEFV gene and hematologic neoplasms. Although no single underlying defect could be targeted in all hematologic neoplasms, it will be important to fully exploit the mechanisms underlying the neoplasm promoting role of inherited variants in MEFV. However, it is unclear how inherited variants in the MEFV gene are associated with tumor susceptibility or promotion in hematologic neoplasms. Further investigations are needed to determine the actual role of the MEFV gene in pathogenesis of these neoplasms."xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.org/dc/terms/identifier | "doi:10.1007/s12185-012-1061-6"xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/author | "Celik S."xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/author | "Oktenli C."xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/date | "2012"xsd:gYear |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/name | "Int J Hematol"xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/pages | "380-385"xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/title | "High frequency of inherited variants in the MEFV gene in patients with hematologic neoplasms: a genetic susceptibility?"xsd:string |
| http://purl.uniprot.org/citations/22453916 | http://purl.uniprot.org/core/volume | "95"xsd:string |
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