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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{
  "DOI": "10.1016/j.ajhg.2010.02.022", 
  "abstract": "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.", 
  "author": [
    {
      "family": "Alanay", 
      "given": " Yasemin"
    }, 
    {
      "family": "Avaygan", 
      "given": " Hrispima"
    }, 
    {
      "family": "Camacho", 
      "given": " Natalia"
    }, 
    {
      "family": "Utine", 
      "given": " G. Eda"
    }, 
    {
      "family": "Boduroglu", 
      "given": " Koray"
    }, 
    {
      "family": "Aktas", 
      "given": " Dilek"
    }, 
    {
      "family": "Alikasifoglu", 
      "given": " Mehmet"
    }, 
    {
      "family": "Tuncbilek", 
      "given": " Ergul"
    }, 
    {
      "family": "Orhan", 
      "given": " Diclehan"
    }, 
    {
      "family": "Bakar", 
      "given": " Filiz Tiker"
    }, 
    {
      "family": "Zabel", 
      "given": " Bernard"
    }, 
    {
      "family": "Superti-Furga", 
      "given": " Andrea"
    }, 
    {
      "family": "Bruckner-Tuderman", 
      "given": " Leena"
    }, 
    {
      "family": "Curry", 
      "given": " Cindy J. R."
    }, 
    {
      "family": "Pyott", 
      "given": " Shawna"
    }, 
    {
      "family": "Byers", 
      "given": " Peter H."
    }, 
    {
      "family": "Eyre", 
      "given": " David R."
    }, 
    {
      "family": "Baldridge", 
      "given": " Dustin"
    }, 
    {
      "family": "Lee", 
      "given": " Brendan"
    }, 
    {
      "family": "Merrill", 
      "given": " Amy E."
    }, 
    {
      "family": "Merrill", 
      "given": " Amy E."
    }
  ], 
  "container_title": "AMERICAN JOURNAL OF HUMAN GENETICS", 
  "id": "25305", 
  "issue": "4", 
  "issued": {
    "date-parts": [
      [
        2010, 
        1, 
        1
      ]
    ]
  }, 
  "page": "551-559", 
  "title": "Mutations in the Gene Encoding the RER Protein FKBP65 Cause Autosomal-Recessive Osteogenesis Imperfecta", 
  "type": "article-journal", 
  "volume": "86"
}