1 Ocak 2012 Dergi makalesi Açık Erişim

Topaloglu, A. Kemal; Tello, Javier A.; Kotan, L. Damla; Ozbek, Mehmet N.; Yilmaz, M. Bertan; Erdogan, Seref; Gurbuz, Fatih; Temiz, Fatih; Millar, Robert P.; Yuksel, Bilgin

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  <identifier identifierType="URL">https://aperta.ulakbim.gov.tr/record/87741</identifier>
  <creators>
    <creator>
      <creatorName>Topaloglu, A. Kemal</creatorName>
      <givenName>A. Kemal</givenName>
      <familyName>Topaloglu</familyName>
    </creator>
    <creator>
      <creatorName>Tello, Javier A.</creatorName>
      <givenName>Javier A.</givenName>
      <familyName>Tello</familyName>
      <affiliation>Univ Edinburgh, Ctr Integrat Physiol, Edinburgh, Midlothian, Scotland</affiliation>
    </creator>
    <creator>
      <creatorName>Kotan, L. Damla</creatorName>
      <givenName>L. Damla</givenName>
      <familyName>Kotan</familyName>
      <affiliation>Cukurova Univ, Inst Sci, Dept Biotechnol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Ozbek, Mehmet N.</creatorName>
      <givenName>Mehmet N.</givenName>
      <familyName>Ozbek</familyName>
      <affiliation>Diyarbakir Childrens Hosp, Dept Pediat Endocrinol, Diyarbakir, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Yilmaz, M. Bertan</creatorName>
      <givenName>M. Bertan</givenName>
      <familyName>Yilmaz</familyName>
      <affiliation>Cukurova Univ, Fac Med, Dept Med Biol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Erdogan, Seref</creatorName>
      <givenName>Seref</givenName>
      <familyName>Erdogan</familyName>
      <affiliation>Cukurova Univ, Fac Med, Dept Physiol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Gurbuz, Fatih</creatorName>
      <givenName>Fatih</givenName>
      <familyName>Gurbuz</familyName>
      <affiliation>Cukurova Univ, Fac Med, Dept Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Temiz, Fatih</creatorName>
      <givenName>Fatih</givenName>
      <familyName>Temiz</familyName>
      <affiliation>Cukurova Univ, Fac Med, Dept Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
    <creator>
      <creatorName>Millar, Robert P.</creatorName>
      <givenName>Robert P.</givenName>
      <familyName>Millar</familyName>
    </creator>
    <creator>
      <creatorName>Yuksel, Bilgin</creatorName>
      <givenName>Bilgin</givenName>
      <familyName>Yuksel</familyName>
      <affiliation>Cukurova Univ, Fac Med, Dept Pediat Endocrinol, TR-01330 Adana, Turkey</affiliation>
    </creator>
  </creators>
  <titles>
    <title>Inactivating Kiss1 Mutation And Hypogonadotropic Hypogonadism</title>
  </titles>
  <publisher>Aperta</publisher>
  <publicationYear>2012</publicationYear>
  <dates>
    <date dateType="Issued">2012-01-01</date>
  </dates>
  <resourceType resourceTypeGeneral="Text">Journal article</resourceType>
  <alternateIdentifiers>
    <alternateIdentifier alternateIdentifierType="url">https://aperta.ulakbim.gov.tr/record/87741</alternateIdentifier>
  </alternateIdentifiers>
  <relatedIdentifiers>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsVersionOf">10.81043/aperta.87740</relatedIdentifier>
    <relatedIdentifier relatedIdentifierType="DOI" relationType="IsIdenticalTo">10.81043/aperta.87741</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">Gonadotropin-releasing hormone (GnRH) is the central regulator of gonadotropins, which stimulate gonadal function. Hypothalamic neurons that produce kisspeptin and neurokinin B stimulate GnRH release. Inactivating mutations in the genes encoding the human kisspeptin receptor (KISS1R, formerly called GPR54), neurokinin B (TAC3), and the neurokinin B receptor (TACR3) result in pubertal failure. However, human kisspeptin loss-of-function mutations have not been described, and contradictory findings have been reported in Kiss1-knockout mice. We describe an inactivating mutation in KISS1 in a large consanguineous family that results in failure of pubertal progression, indicating that functional kisspeptin is important for puberty and reproduction in humans. (Funded by the Scientific and Technological Research Council of Turkey [TUBITAK] and others.)</description>
  </descriptions>
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