{
  "http://linkedlifedata.com/resource/pubmed/id/11668523" : {
    "http://linkedlifedata.com/resource/pubmed/abstractText" : [ {
      "value" : "In this report we present the results of mutational analysis of the CDKN2B, CDKN2C, CDK4, p53 genes and 5'UTR of the CDKN2A gene in a set of 44 sporadic primary melanomas, which had been earlier analysed for mutations in the CDKN2A (p16/p14(ARF)) gene. No tumour-associated mutations were detected except in 1 melanoma where we found a CC>T* deletion-mutation in the codon 151-152 (exon 5) of the p53 gene. On the basis of our preliminary results, we did extended genotyping of the 500 C>G and 540 C>T polymorphisms in the 3'UTR of the CDKN2A gene in 229 melanoma cases and 235 controls. The T-allele frequency (for 540 C>T polymorphism) in melanomas was significantly higher than in controls (0.14 vs. 0.08; chi(2) = 5.95, p = 0.01; OR = 1.71, 95%CI = 1.11-2.66). The heterozygote frequency for this polymorphism was 0.26 (59/229) in melanomas compared to 0.13 (30/235) in healthy controls (chi(2) = 11.4; p = 0.0007; OR = 2.34, 95% CI = 1.40-3.92). The frequency of the 500 C>G polymorphism in the 3'UTR in the CDKN2A gene was not significantly higher in melanomas compared to healthy controls. The 500 C>G polymorphism, however, was in linkage disequilibrium with approximately 50 kb apart the C>A intronic polymorphism in the CDKN2B gene (determined in 44 melanomas and 90 controls; Fisher exact test, p<0.0001). Finally, the sequence analysis of genomic DNA isolated from T cell lymphocytes of healthy individuals exhibited that the codon reported as last of exon 2 of the CDKN2C gene is rather the first codon of exon 3.",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/owner" : [ {
      "value" : "NLM",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/lifeskim/mentions" : [ {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1882979",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1706256",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0684224",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1546471",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0205147",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1524024",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1707455",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0439603",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1527178",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0370215",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0205225",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0012854",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1548161",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0027361",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0205214",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0521114",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1705285",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0231448",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0017337",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1705195",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0332232",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0442726",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0039194",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0796561",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0162801",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0015295",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0017428",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1285573",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0205422",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1882417",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0019425",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0079419",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1705526",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0021920",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0023746",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1095825",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0752046",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0600600",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0525037",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0600493",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C0809183",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1332738",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/umls/id/C1708064",
      "type" : "uri"
    } ],
    "http://linkedlifedata.com/resource/pubmed/chemical" : [ {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/3%27+Untranslated+Regions",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/CDK4+protein%2C+human",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/CDKN2B+protein%2C+human",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/CDKN2C+protein%2C+human",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Cell+Cycle+Proteins",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Codon",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Cyclin-Dependent+Kinase+4",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Cyclin-Dependent+Kinase+Inhibitor+p15",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Cyclin-Dependent+Kinase+Inhibitor+p16",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Cyclin-Dependent+Kinase+Inhibitor+p18",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Cyclin-Dependent+Kinases",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Enzyme+Inhibitors",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Proto-Oncogene+Proteins",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/chemical/Tumor+Suppressor+Proteins",
      "type" : "uri"
    } ],
    "http://linkedlifedata.com/resource/pubmed/month" : [ {
      "value" : "Nov",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/journal" : [ {
      "value" : "http://linkedlifedata.com/resource/pubmed/journal/0042124",
      "type" : "uri"
    } ],
    "http://www.w3.org/1999/02/22-rdf-syntax-ns#type" : [ {
      "value" : "http://linkedlifedata.com/resource/pubmed/Citation",
      "type" : "uri"
    } ],
    "http://linkedlifedata.com/resource/pubmed/dateCreated" : [ {
      "value" : "2001-10-22",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/issue" : [ {
      "value" : "6",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/day" : [ {
      "value" : "20",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/affiliation" : [ {
      "value" : "Department of Biosciences, Center for Nutrition and Toxicology, Karolinska Institute, Novum, Huddinge, Sweden. rajiv.kumar@cnt.ki.se",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/publicationType" : [ {
      "value" : "Journal Article",
      "type" : "literal"
    }, {
      "value" : "Research Support, Non-U.S. Gov't",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/issnType" : [ {
      "value" : "Print",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/dateRevised" : [ {
      "value" : "2009-11-19",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/copyrightInfo" : [ {
      "value" : "Copyright 2001 Wiley-Liss, Inc.",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/authorsComplete" : [ {
      "value" : "Y",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/author" : [ {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/KumarRR",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/HemminkiKK",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/BerggrenPP",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/AkslenL+ALA",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/StrauliPP",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/RozellB+LBL",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/author/SmedsJJ",
      "type" : "uri"
    } ],
    "http://linkedlifedata.com/resource/pubmed/status" : [ {
      "value" : "MEDLINE",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/year" : [ {
      "value" : "2001",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/volume" : [ {
      "value" : "95",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/citationSubset" : [ {
      "value" : "IM",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/articleTitle" : [ {
      "value" : "A single nucleotide polymorphism in the 3'untranslated region of the CDKN2A gene is common in sporadic primary melanomas but mutations in the CDKN2B, CDKN2C, CDK4 and p53 genes are rare.",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/meshHeading" : [ {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Alleles",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Base+Sequence",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Case-Control+Studies",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Cell+Cycle+Proteins",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Codon",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Cyclin-Dependent+Kinase+4",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Cyclin-Dependent+Kinase+Inhibitor+p15",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Cyclin-Dependent+Kinase+Inhibitor+p16",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Cyclin-Dependent+Kinase+Inhibitor+p18",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Cyclin-Dependent+Kinases",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Enzyme+Inhibitors",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Exons",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Genes%2C+p53",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Heterozygote",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Homozygote",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Humans",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Introns",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Melanoma",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Molecular+Sequence+Data",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Polymorphism%2C+Genetic",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Polymorphism%2C+Single-Stranded+Conformational",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Tumor+Suppressor+Proteins",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-3%27+Untranslated+Regions",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Genes%2C+p16",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Mutation",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Polymorphism%2C+Single+Nucleotide",
      "type" : "uri"
    }, {
      "value" : "http://linkedlifedata.com/resource/pubmed/meshheading/11668523-Proto-Oncogene+Proteins",
      "type" : "uri"
    } ],
    "http://linkedlifedata.com/resource/pubmed/pagination" : [ {
      "value" : "388-93",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/issn" : [ {
      "value" : "0020-7136",
      "type" : "literal"
    } ],
    "http://linkedlifedata.com/resource/pubmed/language" : [ {
      "value" : "eng",
      "type" : "literal"
    } ],
    "http://www.w3.org/2004/02/skos/core#exactMatch" : [ {
      "value" : "http://purl.uniprot.org/pubmed/11668523",
      "type" : "uri"
    } ]
  }
}
