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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        "name": "Tello, Javier A."
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        "affiliation": "Cukurova Univ, Inst Sci, Dept Biotechnol, TR-01330 Adana, Turkey", 
        "name": "Kotan, L. Damla"
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        "affiliation": "Diyarbakir Childrens Hosp, Dept Pediat Endocrinol, Diyarbakir, Turkey", 
        "name": "Ozbek, Mehmet N."
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        "affiliation": "Cukurova Univ, Fac Med, Dept Med Biol, TR-01330 Adana, Turkey", 
        "name": "Yilmaz, M. Bertan"
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        "affiliation": "Cukurova Univ, Fac Med, Dept Physiol, TR-01330 Adana, Turkey", 
        "name": "Erdogan, Seref"
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        "affiliation": "Cukurova Univ, Fac Med, Dept Pediat Endocrinol, TR-01330 Adana, Turkey", 
        "name": "Gurbuz, Fatih"
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        "affiliation": "Cukurova Univ, Fac Med, Dept Pediat Endocrinol, TR-01330 Adana, Turkey", 
        "name": "Temiz, Fatih"
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      {
        "name": "Millar, Robert P."
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        "affiliation": "Cukurova Univ, Fac Med, Dept Pediat Endocrinol, TR-01330 Adana, Turkey", 
        "name": "Yuksel, Bilgin"
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    "description": "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.)", 
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      "issue": "7", 
      "pages": "629-635", 
      "title": "NEW ENGLAND JOURNAL OF MEDICINE", 
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    "title": "Inactivating KISS1 Mutation and Hypogonadotropic Hypogonadism"
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