1 Ocak 2010 Dergi makalesi Açık Erişim

Alanay, Yasemin; Avaygan, Hrispima; Camacho, Natalia; Utine, G. Eda; Boduroglu, Koray; Aktas, Dilek; Alikasifoglu, Mehmet; Tuncbilek, Ergul; Orhan, Diclehan; Bakar, Filiz Tiker; Zabel, Bernard; Superti-Furga, Andrea; Bruckner-Tuderman, Leena; Curry, Cindy J. R.; Pyott, Shawna; Byers, Peter H.; Eyre, David R.; Baldridge, Dustin; Lee, Brendan; Merrill, Amy E.; Merrill, Amy E.

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    "creators": [
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        "affiliation": "Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Alanay, Yasemin"
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      {
        "affiliation": "Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA", 
        "name": "Avaygan, Hrispima"
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      {
        "affiliation": "Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA", 
        "name": "Camacho, Natalia"
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      {
        "affiliation": "Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Utine, G. Eda"
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      {
        "affiliation": "Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Boduroglu, Koray"
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      {
        "affiliation": "Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Aktas, Dilek"
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      {
        "affiliation": "Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Alikasifoglu, Mehmet"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey", 
        "name": "Tuncbilek, Ergul"
      }, 
      {
        "affiliation": "Hacettepe Univ, Fac Med, Pediat Pathol Unit, TR-06100 Ankara, Turkey", 
        "name": "Orhan, Diclehan"
      }, 
      {
        "affiliation": "Yeditepe Univ, Dept Pediat, TR-34755 Istanbul, Turkey", 
        "name": "Bakar, Filiz Tiker"
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      {
        "affiliation": "Univ Freiburg, Ctr Pediat & Adolescent Med, D-79106 Freiburg, Germany", 
        "name": "Zabel, Bernard"
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      {
        "affiliation": "Univ Freiburg, Ctr Pediat & Adolescent Med, D-79106 Freiburg, Germany", 
        "name": "Superti-Furga, Andrea"
      }, 
      {
        "affiliation": "Univ Freiburg, Dept Dermatol, D-79106 Freiburg, Germany", 
        "name": "Bruckner-Tuderman, Leena"
      }, 
      {
        "affiliation": "Cent Calif, Genet Med, Fresno, CA 93710 USA", 
        "name": "Curry, Cindy J. R."
      }, 
      {
        "affiliation": "Univ Washington, Dept Pathol, Seattle, WA 98195 USA", 
        "name": "Pyott, Shawna"
      }, 
      {
        "affiliation": "Univ Washington, Dept Pathol, Seattle, WA 98195 USA", 
        "name": "Byers, Peter H."
      }, 
      {
        "affiliation": "Univ Washington, Dept Orthopaed & Sports Med, Seattle, WA 98195 USA", 
        "name": "Eyre, David R."
      }, 
      {
        "affiliation": "Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA", 
        "name": "Baldridge, Dustin"
      }, 
      {
        "affiliation": "Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA", 
        "name": "Lee, Brendan"
      }, 
      {
        "affiliation": "Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA", 
        "name": "Merrill, Amy E."
      }, 
      {
        "affiliation": "Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA", 
        "name": "Merrill, Amy E."
      }
    ], 
    "description": "Osteogenesis imperfecta is a clinically and genetically heterogeneous brittle bone disorder that results from defects in the synthesis, structure, or posttranslational modification of type I procollagen. Dominant forms of OI result from mutations in COL1A1 or COL1A2, which encode the chains of the type I procollagen heterotrimer. The mildest form of OI typically results from diminished synthesis of structurally normal type 1 procollagen, whereas moderately severe to lethal forms of OI usually result from structural defects in one of the type 1 procollagen chains. Recessively inherited OI, usually phenotypically severe, has recently been shown to result from defects in the prolyl-3-hydroxylase complex that lead to the absence of a single 3-hydroxyproline at residue 986 of the alpha 1 (I) triple helical domain. We studied a cohort of five consanguineous Turkish families, originating from the Black Sea region of Turkey, with moderately severe recessively inherited OI and identified a novel locus for OI on chromosome 17. In these families, and in a Mexican-American family, homozygosity for mutations in FKBP10, which encodes FKBP65, a chaperone that participates in type 1 procollagen folding, was identified. Further, we determined that FKBP10 mutations affect type I procollagen secretion. These findings identify a previously unrecognized mechanism in the pathogenesis of OI.", 
    "doi": "10.1016/j.ajhg.2010.02.022", 
    "has_grant": false, 
    "journal": {
      "issue": "4", 
      "pages": "551-559", 
      "title": "AMERICAN JOURNAL OF HUMAN GENETICS", 
      "volume": "86"
    }, 
    "license": {
      "id": "cc-by"
    }, 
    "publication_date": "2010-01-01", 
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    "resource_type": {
      "subtype": "article", 
      "title": "Dergi makalesi", 
      "type": "publication"
    }, 
    "title": "Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta"
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