1 Ocak 2015 Dergi makalesi Açık Erişim

Tomas-Roca, Laura; Tsaalbi-Shtylik, Anastasia; Jansen, Jacob G.; Singh, Manvendra K.; Epstein, Jonathan A.; Altunoglu, Umut; Verzijl, Harriette; Soria, Laura; van Beusekom, Ellen; Roscioli, Tony; Iqbal, Zafar; Gilissen, Christian; Hoischen, Alexander; de Brouwer, Arjan P. M.; Erasmus, Corrie; Schubert, Dirk; Brunner, Han; Aytes, Antonio Perez; Marin, Faustino; Aroca, Pilar; Aroca, Pilar

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/78263</identifier>
  <creators>
    <creator>
      <creatorName>Tomas-Roca, Laura</creatorName>
      <givenName>Laura</givenName>
      <familyName>Tomas-Roca</familyName>
    </creator>
    <creator>
      <creatorName>Tsaalbi-Shtylik, Anastasia</creatorName>
      <givenName>Anastasia</givenName>
      <familyName>Tsaalbi-Shtylik</familyName>
      <affiliation>Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Jansen, Jacob G.</creatorName>
      <givenName>Jacob G.</givenName>
      <familyName>Jansen</familyName>
      <affiliation>Leiden Univ, Med Ctr, Dept Human Genet, NL-2300 RC Leiden, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Singh, Manvendra K.</creatorName>
      <givenName>Manvendra K.</givenName>
      <familyName>Singh</familyName>
    </creator>
    <creator>
      <creatorName>Epstein, Jonathan A.</creatorName>
      <givenName>Jonathan A.</givenName>
      <familyName>Epstein</familyName>
      <affiliation>Univ Penn, Perelman Sch Med, Cardiovasc Inst, Dept Cell &amp; Dev Biol, Philadelphia, PA 19104 USA</affiliation>
    </creator>
    <creator>
      <creatorName>Altunoglu, Umut</creatorName>
      <givenName>Umut</givenName>
      <familyName>Altunoglu</familyName>
      <affiliation>Istanbul Univ, Istanbul Fac Med, Dept Med Genet, TR-34093 Fatih, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Verzijl, Harriette</creatorName>
      <givenName>Harriette</givenName>
      <familyName>Verzijl</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Soria, Laura</creatorName>
      <givenName>Laura</givenName>
      <familyName>Soria</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>van Beusekom, Ellen</creatorName>
      <givenName>Ellen</givenName>
      <familyName>van Beusekom</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Roscioli, Tony</creatorName>
      <givenName>Tony</givenName>
      <familyName>Roscioli</familyName>
    </creator>
    <creator>
      <creatorName>Iqbal, Zafar</creatorName>
      <givenName>Zafar</givenName>
      <familyName>Iqbal</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Gilissen, Christian</creatorName>
      <givenName>Christian</givenName>
      <familyName>Gilissen</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Hoischen, Alexander</creatorName>
      <givenName>Alexander</givenName>
      <familyName>Hoischen</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, RIMLS, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>de Brouwer, Arjan P. M.</creatorName>
      <givenName>Arjan P. M.</givenName>
      <familyName>de Brouwer</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Erasmus, Corrie</creatorName>
      <givenName>Corrie</givenName>
      <familyName>Erasmus</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Neurol, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Schubert, Dirk</creatorName>
      <givenName>Dirk</givenName>
      <familyName>Schubert</familyName>
      <affiliation>Radboud Univ Nijmegen, Med Ctr, Dept Cognit Neurosci, Donders Inst Brain Cognit &amp; Behav, NL-6500 HB Nijmegen, Netherlands</affiliation>
    </creator>
    <creator>
      <creatorName>Brunner, Han</creatorName>
      <givenName>Han</givenName>
      <familyName>Brunner</familyName>
    </creator>
    <creator>
      <creatorName>Aytes, Antonio Perez</creatorName>
      <givenName>Antonio Perez</givenName>
      <familyName>Aytes</familyName>
      <affiliation>Univ Hosp LA FE, Moebius Syndrome Fdn Spain, Dysmorphol &amp; Reprod Genet Unit, Valencia 46540, Spain</affiliation>
    </creator>
    <creator>
      <creatorName>Marin, Faustino</creatorName>
      <givenName>Faustino</givenName>
      <familyName>Marin</familyName>
      <affiliation>Univ Murcia, Sch Med, Dept Human Anat &amp; Psychobiol, Espinardo 30100, Murcia, Spain</affiliation>
    </creator>
    <creator>
      <creatorName>Aroca, Pilar</creatorName>
      <givenName>Pilar</givenName>
      <familyName>Aroca</familyName>
      <affiliation>Univ Murcia, Sch Med, Dept Human Anat &amp; Psychobiol, Espinardo 30100, Murcia, Spain</affiliation>
    </creator>
    <creator>
      <creatorName>Aroca, Pilar</creatorName>
      <givenName>Pilar</givenName>
      <familyName>Aroca</familyName>
      <affiliation>Univ Murcia, Sch Med, Dept Human Anat &amp; Psychobiol, Espinardo 30100, Murcia, Spain</affiliation>
    </creator>
  </creators>
  <titles>
    <title>De Novo Mutations In Plxnd1 And Rev3L Cause Mobius Syndrome</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2015</publicationYear>
  <dates>
    <date dateType="Issued">2015-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/78263</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.1038/ncomms8199</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">Mobius syndrome (MBS) is a neurological disorder that is characterized by paralysis of the facial nerves and variable other congenital anomalies. The aetiology of this syndrome has been enigmatic since the initial descriptions by von Graefe in 1880 and by Mobius in 1888, and it has been debated for decades whether MBS has a genetic or a non-genetic aetiology. Here, we report de novo mutations affecting two genes, PLXND1 and REV3L in MBS patients. PLXND1 and REV3L represent totally unrelated pathways involved in hindbrain development: neural migration and DNA translesion synthesis, essential for the replication of endogenously damaged DNA, respectively. Interestingly, analysis of Plxnd1 and Rev3l mutant mice shows that disruption of these separate pathways converge at the facial branchiomotor nucleus, affecting either motoneuron migration or proliferation. The finding that PLXND1 and REV3L mutations are responsible for a proportion of MBS patients suggests that de novo mutations in other genes might account for other MBS patients.</description>
  </descriptions>
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