D Shalev, P Melamed - Molecular and Cellular Endocrinology, 2020 - Elsevier
Puberty is programmed through a multifactorial gene network which works to activate the pulsatile secretion of the gonadotropin releasing hormone (GnRH), and subsequently …
Context Loss-of-function mutations of makorin RING finger protein 3 (MKRN3) are the most common monogenic cause of familial central precocious puberty (CPP). Objective To …
Pubertal onset is known to result from reactivation of the hypothalamic-pituitary-gonadal (HPG) axis, which is controlled by complex interactions of genetic and nongenetic factors …
T Tajima - Clinical Pediatric Endocrinology, 2022 - jstage.jst.go.jp
Central precocious puberty (CPP) is a condition in which the hypothalamus–pituitary– gonadal system is activated earlier than the normal developmental stage. The etiology …
Background Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved …
L Maione, L Naulé, UB Kaiser - Current opinion in endocrine and metabolic …, 2020 - Elsevier
Makorin RING finger protein 3 (MKRN3) is a key inhibitor of the hypothalamic–pituitary– gonadal axis. Loss-of-function mutations in MKRN3 cause familial and sporadic central …
S Palumbo, G Cirillo, F Aiello, A Papparella… - Frontiers in …, 2022 - frontiersin.org
Puberty is a critical process characterized by several physical and psychological changes that culminate in the achievement of sexual maturation and fertility. The onset of puberty …
T Varimo, AP Iivonen, J Känsäkoski, K Wehkalampi… - Pediatric …, 2021 - nature.com
Background Paternally inherited loss-of-function mutations in MKRN3 underlie central precocious puberty (CPP). We describe clinical and genetic features of CPP patients with …
H Narusawa, T Ogawa, H Yagasaki… - The Journal of …, 2024 - academic.oup.com
Abstract Context Defects in MKRN3, DLK1, KISS1, and KISS1R and some disorders, such as Temple syndrome (TS14), cause central precocious puberty (CPP). Recently, pathogenic …