1 Ocak 2016 Dergi makalesi Açık Erişim

Oktay, Yavuz; Ulgen, Ege; Can, Ozge; Akyerli, Cemaliye B.; Yuksel, Sirin; Erdemgil, Yigit; Durasi, I. Melis; Henegariu, Octavian Ioan; Nanni, E. Paolo; Selevsek, Nathalie; Grossmann, Jonas; Erson-Omay, E. Zeynep; Bai, Hanwen; Gupta, Manu; Lee, William; Turcan, Sevin; Ozpinar, Aysel; Huse, Jason T.; Sav, M. Aydin; Flanagan, Adrienne; Flanagan, Adrienne

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    "creators": [
      {
        "name": "Oktay, Yavuz"
      }, 
      {
        "affiliation": "Acibadem Univ, Brain Tumor Res Grp, Istanbul, Turkey", 
        "name": "Ulgen, Ege"
      }, 
      {
        "name": "Can, Ozge"
      }, 
      {
        "name": "Akyerli, Cemaliye B."
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      {
        "name": "Yuksel, Sirin"
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      {
        "affiliation": "Acibadem Univ, Brain Tumor Res Grp, Istanbul, Turkey", 
        "name": "Erdemgil, Yigit"
      }, 
      {
        "affiliation": "Sabanci Univ, Fac Engn & Nat Sci, Dept Biol Sci & Bioengn, Istanbul, Turkey", 
        "name": "Durasi, I. Melis"
      }, 
      {
        "affiliation": "Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA", 
        "name": "Henegariu, Octavian Ioan"
      }, 
      {
        "affiliation": "UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland", 
        "name": "Nanni, E. Paolo"
      }, 
      {
        "affiliation": "UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland", 
        "name": "Selevsek, Nathalie"
      }, 
      {
        "affiliation": "UZH ETH, Funct Genom Ctr Zurich, Zurich, Switzerland", 
        "name": "Grossmann, Jonas"
      }, 
      {
        "affiliation": "Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA", 
        "name": "Erson-Omay, E. Zeynep"
      }, 
      {
        "affiliation": "Yale Univ, Sch Med, Dept Neurosurg, New Haven, CT 06504 USA", 
        "name": "Bai, Hanwen"
      }, 
      {
        "affiliation": "UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England", 
        "name": "Gupta, Manu"
      }, 
      {
        "affiliation": "Mem Sloan Kettering Canc Ctr, Dept Radiat Oncol, New York, NY 10065 USA", 
        "name": "Lee, William"
      }, 
      {
        "affiliation": "Mem Sloan Kettering Canc Ctr, Human Oncol & Pathogenesis Program, New York, NY 10065 USA", 
        "name": "Turcan, Sevin"
      }, 
      {
        "name": "Ozpinar, Aysel"
      }, 
      {
        "affiliation": "Mem Sloan Kettering Canc Ctr, Dept Pathol, New York, NY 10065 USA", 
        "name": "Huse, Jason T."
      }, 
      {
        "name": "Sav, M. Aydin"
      }, 
      {
        "affiliation": "UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England", 
        "name": "Flanagan, Adrienne"
      }, 
      {
        "affiliation": "UCL, Canc Inst, 72 Huntley St, London WC1E 6DD, England", 
        "name": "Flanagan, Adrienne"
      }
    ], 
    "description": "The single nucleotide polymorphism rs55705857, located in a non-coding but evolutionarily conserved region at 8q24.21, is strongly associated with IDH-mutant glioma development and was suggested to be a causal variant. However, the molecular mechanism underlying this association has remained unknown. With a case control study in 285 gliomas, 316 healthy controls, 380 systemic cancers, 31 other CNS-tumors, and 120 IDH-mutant cartilaginous tumors, we identified that the association was specific to IDH-mutant gliomas. Odds-ratios were 9.25 (5.17-16.52; 95% CI) for IDH-mutated gliomas and 12.85 (5.94-27.83; 95% CI) for IDH-mutated, 1p/19q co-deleted gliomas. Decreasing strength with increasing anaplasia implied a modulatory effect. No somatic mutations were noted at this locus in 114 blood-tumor pairs, nor was there a copy number difference between risk-allele and only-ancestral allele carriers. CCDC26 RNA-expression was rare and not different between the two groups. There were only minor subtype-specific differences in common glioma driver genes. RNA sequencing and LC-MS/MS comparisons pointed to significantly altered MYC-signaling. Baseline enhancer activity of the conserved region specifically on the MYC promoter and its further positive modulation by the SNP risk-allele was shown in vitro. Our findings implicate MYC deregulation as the underlying cause of the observed association.", 
    "doi": "10.1038/srep27569", 
    "has_grant": false, 
    "journal": {
      "title": "SCIENTIFIC REPORTS", 
      "volume": "6"
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    "license": {
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    "publication_date": "2016-01-01", 
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      "title": "Dergi makalesi", 
      "type": "publication"
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    "title": "IDH-mutant glioma specific association of rs55705857 located at 8q24.21 involves MYC deregulation"
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