… by enhanced expression of KISS1 and GPR54 genes at onset of puberty, contributes to the
… -function mutations in KISS1 or KISSR1 genes may induce precocious activation of puberty. …

… To date, mutations in genes KISS1, KISS1R, MKRN3, DLK1 have been described as
causal variants leading to precocious hypothalamic-pituitary axis activation in childhood. …

… associated with pubertal timing in their offspring. A gain of expression in the … gene (KISS1),
gain-of-function mutation in the kisspeptin receptor gene (KISS1R), loss-of-function mutation …

… on KISS1 and KISS1R mutations found in CPP and IHH and its purposes are twofold: Firstly,
based on the mutations found in KISS1 … in the reproductive axis and in puberty. Secondly, G …

… reported inactivating mutations of the KISS1R gene in patients … The KISS1 gene encoding
kisspeptin and the KISS1R gene … mutations in KISS1 and KISS1R were detected as genetic …

… We show that KISS1R mutants are responsible for the nCHH phenotype in only a … the genes
analysed here were mutated in fewer than 15% of patients, suggesting a role of other genes …

… mutation in KISS1 gene in a boy with very early pubertal development at 12 months of age,
and suggested this mutation … However, so far, KISS1 and KISS1R mutation have been very …

… the “mini-puberty” of infancy … puberty [25]. On the other hand, the first clinical clues in females
diagnosed with inactivating KISS1R mutations have been manifested at the time of puberty …

… This activating mutation led to the prolonged activation of … Other mutations in candidate
genes involved in the regulatory … , KISS1/KISS1R and TAC3/TACR3, should be the first genes to …

… elements of the neural network responsible for GnRH pulse generation, only very rarely
have human mutations in Kisspeptin 1 (KISS1) been found in patients with delayed or absent …