1 Ocak 2014 Dergi makalesi Açık Erişim

La Kotan, L. Dam; Hutchins, B. Ian; Ozkan, Yusuf; Demire, Fatma; Stoner, Hudson; Cheng, Paul J.; Esen, Ihsan; Gurbuz, Fatih; Bicakci, Y. Kenan; Mengen, Eda; Yukse, Bilgin; Wray, Susan; Topaloglu, A. Kemal

JSON-LD (schema.org)

{
  "@context": "https://schema.org/", 
  "@id": 63407, 
  "@type": "ScholarlyArticle", 
  "creator": [
    {
      "@type": "Person", 
      "affiliation": "Cukurova Univ, Inst Sci, Dept Biotechnol, TR-01330 Adana, Turkey", 
      "name": "La Kotan, L. Dam"
    }, 
    {
      "@type": "Person", 
      "affiliation": "NINDS, Cellular & Dev Neurobiol Sect, NIH, Bethesda, MD 20892 USA", 
      "name": "Hutchins, B. Ian"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Firat Univ, Dept Endocrinol, Fac Med, TR-23119 Elazig, Turkey", 
      "name": "Ozkan, Yusuf"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Ankara Pediat Hematol & Oncol Training Hosp, Div Pediat Endocrinol, TR-06200 Ankara, Turkey", 
      "name": "Demire, Fatma"
    }, 
    {
      "@type": "Person", 
      "affiliation": "NINDS, Cellular & Dev Neurobiol Sect, NIH, Bethesda, MD 20892 USA", 
      "name": "Stoner, Hudson"
    }, 
    {
      "@type": "Person", 
      "affiliation": "NINDS, Cellular & Dev Neurobiol Sect, NIH, Bethesda, MD 20892 USA", 
      "name": "Cheng, Paul J."
    }, 
    {
      "@type": "Person", 
      "affiliation": "Ankara Pediat Hematol & Oncol Training Hosp, Div Pediat Endocrinol, TR-06200 Ankara, Turkey", 
      "name": "Esen, Ihsan"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Cukurova Univ, Div Pediat Endocrinol, Fac Med, TR-01330 Adana, Turkey", 
      "name": "Gurbuz, Fatih"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Cukurova Univ, Dept Radiol, Fac Med, TR-01330 Adana, Turkey", 
      "name": "Bicakci, Y. Kenan"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Cukurova Univ, Div Pediat Endocrinol, Fac Med, TR-01330 Adana, Turkey", 
      "name": "Mengen, Eda"
    }, 
    {
      "@type": "Person", 
      "affiliation": "Cukurova Univ, Div Pediat Endocrinol, Fac Med, TR-01330 Adana, Turkey", 
      "name": "Yukse, Bilgin"
    }, 
    {
      "@type": "Person", 
      "affiliation": "NINDS, Cellular & Dev Neurobiol Sect, NIH, Bethesda, MD 20892 USA", 
      "name": "Wray, Susan"
    }, 
    {
      "@type": "Person", 
      "name": "Topaloglu, A. Kemal"
    }
  ], 
  "datePublished": "2014-01-01", 
  "description": "Gonadotropin-releasing hormone (GnRH) neurons originate outside the CNS in the olfactory placode and migrate into the CNS, where they become integral components of the hypothalamic-pituitary-gonadal (HPG) axis. Disruption of this migration results in Kallmann syndrome (KS), which is characterized by anosmia and pubertal failure due to hypogonadotropic hypogonadism. Using candidate-gene screening, autozygosity mapping, and whole-exome sequencing in a cohort of 30 individuals with KS, we searched for genes newly associated with KS. We identified homozygous loss-of-function mutations in FEZF1 in two independent consanguineous families each with two affected siblings. The FEZF1 product is known to enable axons of olfactory receptor neurons (ORNs) to penetrate the CNS basal lamina in mice. Because a subset of axons in these tracks is the migratory pathway for GnRH neurons, in FEZF1 deficiency, GnRH neurons also fail to enter the brain. These results indicate that FEZF1 is required for establishment of the central component of the HPG axis in humans.", 
  "headline": "Mutations in FEZF1 Cause Kallmann Syndrome", 
  "identifier": 63407, 
  "image": "https://aperta.ulakbim.gov.tr/static/img/logo/aperta_logo_with_icon.svg", 
  "license": "http://www.opendefinition.org/licenses/cc-by", 
  "name": "Mutations in FEZF1 Cause Kallmann Syndrome", 
  "url": "https://aperta.ulakbim.gov.tr/record/63407"
}