Article
Absence of GPR54 and TACR3 mutations in sporadic cases of idiopathic central precocious puberty.
Hormone research in paediatrics - 1 Jan 2014
Leka-Emiri Sofia, Louizou Eirini, Kambouris Marios, Chrousos George, De Roux Nicolas, Kanaka-Gantenbein Christina
Abstract excerpt
BACKGROUND/AIMS: Kisspeptin (KISS1)/GPR54 (KISSR) signaling complex and neurokinin B (NKB)/NKB receptor (TACR3) signaling have been proposed as an integral part of the network coordinating GnRH release. GPR54 (KISS1R) and TACR3 gene mutations have been described in cases of idiopathic hypogonadotrophic hypogonadism, while limited data exist on gain-of-function mutation in GPR54 (KISS1R) gene causing idiopathic...
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