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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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/25305</identifier>
  <creators>
    <creator>
      <creatorName>Alanay, Yasemin</creatorName>
      <givenName>Yasemin</givenName>
      <familyName>Alanay</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Avaygan, Hrispima</creatorName>
      <givenName>Hrispima</givenName>
      <familyName>Avaygan</familyName>
      <affiliation>Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Camacho, Natalia</creatorName>
      <givenName>Natalia</givenName>
      <familyName>Camacho</familyName>
      <affiliation>Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Utine, G. Eda</creatorName>
      <givenName>G. Eda</givenName>
      <familyName>Utine</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Boduroglu, Koray</creatorName>
      <givenName>Koray</givenName>
      <familyName>Boduroglu</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Aktas, Dilek</creatorName>
      <givenName>Dilek</givenName>
      <familyName>Aktas</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Alikasifoglu, Mehmet</creatorName>
      <givenName>Mehmet</givenName>
      <familyName>Alikasifoglu</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Tuncbilek, Ergul</creatorName>
      <givenName>Ergul</givenName>
      <familyName>Tuncbilek</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Genet Unit, Dept Pediat, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Orhan, Diclehan</creatorName>
      <givenName>Diclehan</givenName>
      <familyName>Orhan</familyName>
      <affiliation>Hacettepe Univ, Fac Med, Pediat Pathol Unit, TR-06100 Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Bakar, Filiz Tiker</creatorName>
      <givenName>Filiz Tiker</givenName>
      <familyName>Bakar</familyName>
      <affiliation>Yeditepe Univ, Dept Pediat, TR-34755 Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Zabel, Bernard</creatorName>
      <givenName>Bernard</givenName>
      <familyName>Zabel</familyName>
      <affiliation>Univ Freiburg, Ctr Pediat &amp; Adolescent Med, D-79106 Freiburg, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Superti-Furga, Andrea</creatorName>
      <givenName>Andrea</givenName>
      <familyName>Superti-Furga</familyName>
      <affiliation>Univ Freiburg, Ctr Pediat &amp; Adolescent Med, D-79106 Freiburg, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Bruckner-Tuderman, Leena</creatorName>
      <givenName>Leena</givenName>
      <familyName>Bruckner-Tuderman</familyName>
      <affiliation>Univ Freiburg, Dept Dermatol, D-79106 Freiburg, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Curry, Cindy J. R.</creatorName>
      <givenName>Cindy J. R.</givenName>
      <familyName>Curry</familyName>
      <affiliation>Cent Calif, Genet Med, Fresno, CA 93710 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Pyott, Shawna</creatorName>
      <givenName>Shawna</givenName>
      <familyName>Pyott</familyName>
      <affiliation>Univ Washington, Dept Pathol, Seattle, WA 98195 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Byers, Peter H.</creatorName>
      <givenName>Peter H.</givenName>
      <familyName>Byers</familyName>
      <affiliation>Univ Washington, Dept Pathol, Seattle, WA 98195 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Eyre, David R.</creatorName>
      <givenName>David R.</givenName>
      <familyName>Eyre</familyName>
      <affiliation>Univ Washington, Dept Orthopaed &amp; Sports Med, Seattle, WA 98195 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Baldridge, Dustin</creatorName>
      <givenName>Dustin</givenName>
      <familyName>Baldridge</familyName>
      <affiliation>Baylor Coll Med, Dept Mol &amp; Human Genet, Houston, TX 77030 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Lee, Brendan</creatorName>
      <givenName>Brendan</givenName>
      <familyName>Lee</familyName>
      <affiliation>Baylor Coll Med, Dept Mol &amp; Human Genet, Houston, TX 77030 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Merrill, Amy E.</creatorName>
      <givenName>Amy E.</givenName>
      <familyName>Merrill</familyName>
      <affiliation>Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Merrill, Amy E.</creatorName>
      <givenName>Amy E.</givenName>
      <familyName>Merrill</familyName>
      <affiliation>Univ Calif Los Angeles, David Geffen Sch Med, Dept Orthopaed Surg, Los Angeles, CA 90095 USA</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Mutations In The Gene Encoding The Rer Protein Fkbp65 Cause Autosomal-Recessive Osteogenesis Imperfecta</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2010</publicationYear>
  <dates>
    <date dateType="Issued">2010-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/25305</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1016/j.ajhg.2010.02.022</relatedIdentifier>
  </relatedIdentifiers>
  <rightsList>
    <rights rightsURI="http://www.opendefinition.org/licenses/cc-by">Creative Commons Attribution</rights>
    <rights rightsURI="info:eu-repo/semantics/openAccess">Open Access</rights>
  </rightsList>
  <descriptions>
    <description descriptionType="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.</description>
  </descriptions>
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