1 Ocak 2021 Dergi makalesi Açık Erişim

Taft, Justin; Markson, Michael; Legarda, Diana; Patel, Roosheel; Chan, Mark; Malle, Louise; Richardson, Ashley; Gruber, Conor; Martin-Fernandez, Marta; Mancini, Grazia M. S.; van Laar, Jan A. M.; van Pelt, Philomine; Buta, Sofija; Wokke, Beatrijs H. A.; Sabli, Ira K. D.; Sancho-Shimizu, Vanessa; Chavan, Pallavi Pimpale; Schnappauf, Oskar; Khubchandani, Raju; Cuceoglu, Muserref Kasap; Cuceoglu, Muserref Kasap

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  "created": "2022-10-07T07:49:13.206103+00:00", 
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        "id": "tubitak-destekli-proje-yayinlari"
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    "creators": [
      {
        "name": "Taft, Justin"
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      {
        "name": "Markson, Michael"
      }, 
      {
        "affiliation": "Icahn Sch Med Mt Sinai, Precis Immunol Inst, New York, NY 10029 USA", 
        "name": "Legarda, Diana"
      }, 
      {
        "name": "Patel, Roosheel"
      }, 
      {
        "affiliation": "Mayo Clin, Dept Immunol, Rochester, MN 55905 USA", 
        "name": "Chan, Mark"
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      {
        "name": "Malle, Louise"
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      {
        "name": "Richardson, Ashley"
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      {
        "name": "Gruber, Conor"
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      {
        "name": "Martin-Fernandez, Marta"
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      {
        "affiliation": "Erasmus MC, Dept Clin Genet, NL-3015 GD Rotterdam, Netherlands", 
        "name": "Mancini, Grazia M. S."
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      {
        "affiliation": "Erasmus MC, Dept Immunol, NL-3015 GD Rotterdam, Netherlands", 
        "name": "van Laar, Jan A. M."
      }, 
      {
        "affiliation": "Erasmus MC, Dept Rheumatol, NL-3015 GD Rotterdam, Netherlands", 
        "name": "van Pelt, Philomine"
      }, 
      {
        "name": "Buta, Sofija"
      }, 
      {
        "affiliation": "Erasmus MC, Dept Neurol, NL-3015 GD Rotterdam, Netherlands", 
        "name": "Wokke, Beatrijs H. A."
      }, 
      {
        "name": "Sabli, Ira K. D."
      }, 
      {
        "name": "Sancho-Shimizu, Vanessa"
      }, 
      {
        "name": "Chavan, Pallavi Pimpale"
      }, 
      {
        "affiliation": "NHGRI, Inflammatory Dis Sect, Bethesda, MD 20892 USA", 
        "name": "Schnappauf, Oskar"
      }, 
      {
        "name": "Khubchandani, Raju"
      }, 
      {
        "affiliation": "Hacettepe Univ, Dept Pediat Rheumatol, Ankara, Turkey", 
        "name": "Cuceoglu, Muserref Kasap"
      }, 
      {
        "affiliation": "Hacettepe Univ, Dept Pediat Rheumatol, Ankara, Turkey", 
        "name": "Cuceoglu, Muserref Kasap"
      }
    ], 
    "description": "TANK binding kinase 1 (TBK1) regulates IFN-I, NF-kappa B, and TNF-induced RIPK1-dependent cell death (RCD). In mice, biallelic loss of TBK1 is embryonically lethal. We discovered four humans, ages 32, 26, 7, and 8 from three unrelated consanguineous families with homozygous loss-of-function mutations in TBK1. All four patients suffer from chronic and systemic autoinflammation, but not severe viral infections. We demonstrate that TBK1 loss results in hypomorphic but sufficient IFN-I induction via RIG-I/MDA5, while the system retains near intact IL-6 induction through NF-kappa B. Autoinflammation is driven by TNF-induced RCD as patient-derived fibroblasts experienced higher rates of necroptosis in vitro, and CC3 was elevated in peripheral blood ex vivo. Treatment with anti-TNF dampened the baseline circulating inflammatory profile and ameliorated the clinical condition in vivo. These findings highlight the plasticity of the IFN-I response and underscore a cardinal role for TBK1 in the regulation of RCD.", 
    "doi": "10.1016/j.cell.2021.07.026", 
    "has_grant": false, 
    "journal": {
      "issue": "17", 
      "pages": "4447-+", 
      "title": "CELL", 
      "volume": "184"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2021-01-01", 
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    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
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    "science_branches": [
      "Di\u011fer"
    ], 
    "title": "Human TBK1 deficiency leads to autoinflammation driven by TNF-induced cell death"
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