| http://purl.uniprot.org/citations/16166283 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16166283 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/16166283 | http://www.w3.org/2000/01/rdf-schema#comment | "Multicolor fluorescent in situ hybridization (FISH) was used to identify acquired chromosomal aberrations in 12 patients with mycosis fungoides or Sézary syndrome, the most common forms of primary cutaneous T-cell lymphoma (CTCL). The most frequently affected chromosome was 12, which showed clonal deletions or translocations with a break point in 12q21 or 12q22 in five of seven consecutive Sézary syndrome patients and a clonal monosomy in the sixth patient. The break point of a balanced translocation t(12;18)(q21;q21.2), mapped in the minimal common region of two deletions, fine mapped to 12q2. By locus-specific FISH, the translocation disrupted one gene, NAV3 (POMFIL1), a human homologue of unc-53 in Caenorhabditis elegans. A missense mutation in the remaining NAV3 allele was found in one of six cases with a deletion or translocation. With locus-specific FISH, NAV3 deletions were found in the skin lesions of four of eight (50%) patients with early mycosis fungoides (stages IA-IIA) and in the skin or lymph node of 11 of 13 (85%) patients with advanced mycosis fungoides or Sézary syndrome. Preliminary functional studies with lentiviral small interfering RNA-based NAV3 silencing in Jurkat cells and in primary lymphocytes showed enhanced interleukin 2 expression (but not CD25 expression). Thus, NAV3 may contribute to the growth, differentiation, and apoptosis of CTCL cells as well as to the skewing from Th1-type to Th2-type phenotype during disease progression. NAV3, a novel putative haploinsufficient tumor suppressor gene, is disrupted in most cases of the commonest types of CTCL and may thus provide a new diagnostic tool."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.org/dc/terms/identifier | "doi:10.1158/0008-5472.can-04-0366"xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.org/dc/terms/identifier | "doi:10.1158/0008-5472.can-04-0366"xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Poustka A."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Poustka A."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Zhou Y."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Zhou Y."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Saksela K."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Saksela K."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Nupponen N."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Nupponen N."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Visakorpi T."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Visakorpi T."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Peterson P."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Peterson P."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Ranki A."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Ranki A."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Kaehkoenen M."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Kaehkoenen M."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Kytoelae S."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Kytoelae S."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Krebs I."xsd:string |
| http://purl.uniprot.org/citations/16166283 | http://purl.uniprot.org/core/author | "Krebs I."xsd:string |