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Article

Inactivating KISS1 mutation and hypogonadotropic hypogonadism.

The New England journal of medicine - 16 Feb 2012

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

Abstract excerpt

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...

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Identifiers

PMID: 22335740
DOI: 10.1056/NEJMoa1111184

Genes

KISS1
TAC3
TACR3

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