EAP1 mutations cause an impaired transcriptional activity on GnRH promoter that leads to self-limited delayed puberty

hrp0089ha1 | EAP1 mutations cause an impaired transcriptional activity on GnRH promoter that leads to self-limited delayed puberty | ESPE2018

Mancini Alessandra , Howard Sasha R , Cabrera Claudia P , Barnes Michael R , Heger Sabine , Guasti Leonardo , Ojeda Sergio , Dunkel Leo

Background: The initiation of puberty is orchestrated by the augmentation in the secretion of gonadotropin-releasing hormone (GnRH) from a few thousand neurons located in the hypothalamus. Recent findings identified that the neuroendocrine control of puberty is regulated by a network of transcriptional factors hierarchically organized, but this still remains not fully elucidated. Enhanced At Puberty 1 (EAP1) is one of the main regulators of pubertal onset and it is ex...

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ESPE Abstracts

57th Annual ESPE (ESPE 2018)

Henning Anderson Award

EAP1 mutations cause an impaired transcriptional activity on GnRH promoter that leads to self-limited delayed puberty

EAP1 Mutations Cause an Impaired Transcriptional Activity on GnRH Promoter that Leads to Self-Limited Delayed Puberty

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