1 Ocak 2013 Dergi makalesi Açık Erişim

Wieczorek, Dagmar; Boegershausen, Nina; Beleggia, Filippo; Steiner-Haldenstaett, Sabine; Pohl, Esther; Li, Yun; Milz, Esther; Martin, Marcel; Thiele, Holger; Altmueller, Janine; Alanay, Yasemin; Kayserili, Hulya; Klein-Hitpass, Ludger; Bohringer, Stefan; Wollstein, Andreas; Albrecht, Beate; Boduroglu, Koray; Caliebe, Almuth; Chrzanowska, Krystyna; Cogulu, Ozgur; Cogulu, Ozgur

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/12133</identifier>
  <creators>
    <creator>
      <creatorName>Wieczorek, Dagmar</creatorName>
      <givenName>Dagmar</givenName>
      <familyName>Wieczorek</familyName>
      <affiliation>Univ Klinikum Essen, Inst Humangenet, Essen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Boegershausen, Nina</creatorName>
      <givenName>Nina</givenName>
      <familyName>Boegershausen</familyName>
    </creator>
    <creator>
      <creatorName>Beleggia, Filippo</creatorName>
      <givenName>Filippo</givenName>
      <familyName>Beleggia</familyName>
    </creator>
    <creator>
      <creatorName>Steiner-Haldenstaett, Sabine</creatorName>
      <givenName>Sabine</givenName>
      <familyName>Steiner-Haldenstaett</familyName>
      <affiliation>Univ Klinikum Essen, Inst Humangenet, Essen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Pohl, Esther</creatorName>
      <givenName>Esther</givenName>
      <familyName>Pohl</familyName>
    </creator>
    <creator>
      <creatorName>Li, Yun</creatorName>
      <givenName>Yun</givenName>
      <familyName>Li</familyName>
    </creator>
    <creator>
      <creatorName>Milz, Esther</creatorName>
      <givenName>Esther</givenName>
      <familyName>Milz</familyName>
    </creator>
    <creator>
      <creatorName>Martin, Marcel</creatorName>
      <givenName>Marcel</givenName>
      <familyName>Martin</familyName>
      <affiliation>TU Dortmund, Dortmund, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Thiele, Holger</creatorName>
      <givenName>Holger</givenName>
      <familyName>Thiele</familyName>
      <affiliation>Univ Cologne, CCG, D-50931 Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Altmueller, Janine</creatorName>
      <givenName>Janine</givenName>
      <familyName>Altmueller</familyName>
      <affiliation>Univ Cologne, CCG, D-50931 Cologne, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Alanay, Yasemin</creatorName>
      <givenName>Yasemin</givenName>
      <familyName>Alanay</familyName>
    </creator>
    <creator>
      <creatorName>Kayserili, Hulya</creatorName>
      <givenName>Hulya</givenName>
      <familyName>Kayserili</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Med Genet, Istanbul, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Klein-Hitpass, Ludger</creatorName>
      <givenName>Ludger</givenName>
      <familyName>Klein-Hitpass</familyName>
    </creator>
    <creator>
      <creatorName>Bohringer, Stefan</creatorName>
      <givenName>Stefan</givenName>
      <familyName>Bohringer</familyName>
      <affiliation>Leiden Univ, Med Ctr, Leiden, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Wollstein, Andreas</creatorName>
      <givenName>Andreas</givenName>
      <familyName>Wollstein</familyName>
      <affiliation>Univ Munich LMU, Dept Biol 2, Sect Evolutionary Biol, Planegg Martinsried, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Albrecht, Beate</creatorName>
      <givenName>Beate</givenName>
      <familyName>Albrecht</familyName>
      <affiliation>Univ Klinikum Essen, Inst Humangenet, Essen, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Boduroglu, Koray</creatorName>
      <givenName>Koray</givenName>
      <familyName>Boduroglu</familyName>
      <affiliation>Hacettepe Univ, Sch Med, Ihsan Dogramaci Childrens Hosp, Dept Pediat Genet, Ankara, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Caliebe, Almuth</creatorName>
      <givenName>Almuth</givenName>
      <familyName>Caliebe</familyName>
      <affiliation>Univ Kiel, Inst Humangenet, Kiel, Germany</affiliation>
    </creator>
    <creator>
      <creatorName>Chrzanowska, Krystyna</creatorName>
      <givenName>Krystyna</givenName>
      <familyName>Chrzanowska</familyName>
      <affiliation>Childrens Mem Hlth Inst, Dept Med Genet, Warsaw, Poland</affiliation>
    </creator>
    <creator>
      <creatorName>Cogulu, Ozgur</creatorName>
      <givenName>Ozgur</givenName>
      <familyName>Cogulu</familyName>
      <affiliation>Ege Univ, Fac Med, Dept Pediat Genet, Izmir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Cogulu, Ozgur</creatorName>
      <givenName>Ozgur</givenName>
      <familyName>Cogulu</familyName>
      <affiliation>Ege Univ, Fac Med, Dept Pediat Genet, Izmir, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>A Comprehensive Molecular Study On Coffin-Siris And Nicolaides-Baraitser Syndromes Identifies A Broad Molecular And Clinical Spectrum Converging On Altered Chromatin Remodeling</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2013</publicationYear>
  <dates>
    <date dateType="Issued">2013-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/12133</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1093/hmg/ddt366</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">Chromatin remodeling complexes are known to modify chemical marks on histones or to induce conformational changes in the chromatin in order to regulate transcription. Denovodominant mutations in different members of the SWI/SNF chromatin remodeling complex have recently been described in individuals with Coffin-Siris (CSS) and Nicolaides-Baraitser (NCBRS) syndromes. Using a combination of whole-exome sequencing, NGS-based sequencing of 23 SWI/SNF complex genes, and molecular karyotyping in 46 previously undescribed individuals with CSS and NCBRS, we identified a de novo 1-bp deletion (c.677delG, p.Gly226Glufs*53) and a de novo missense mutation (c.914G&amp;gt;T, p.Cys305Phe) in PHF6 in two individuals diagnosed with CSS. PHF6 interacts with the nucleosome remodeling and deacetylation ( NuRD) complex implicating dysfunction of a second chromatin remodeling complex in the pathogenesis of CSS-like phenotypes. Altogether, we identified mutations in 60% of the studied individuals (28/46), located in the genes ARID1A, ARID1B, SMARCB1, SMARCE1, SMARCA2, and PHF6. We show that mutations in ARID1B are the main cause of CSS, accounting for 76% of identified mutations. ARID1B and SMARCB1 mutations were also found in individuals with the initial diagnosis of NCBRS. These individuals apparently belong to a small subset who display an intermediate CSS/NCBRS phenotype. Our proposed genotype-phenotype correlations are important for molecular screening strategies.</description>
  </descriptions>
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