… 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 …

… 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 …

… the current knowledge regarding mutations and polymorphisms in KISS1 and KISS1R associated
… of the epigenetic regulation of the KISS1 gene in the context of puberty onset and CPP. …

… of the KISS1 peptide, GPR54 was found to bind KISS1. This … puberty development caused
by an MKRN3 gene mutation: a … missense mutation in familial central precocious puberty. …

… genes in the KISS1/GPR54 pathway and precocious puberty … , whether these mutations play
a role in precocious puberty in … and better design are warranted to address these problems. …

… Just as GNRH and KISS1 genes have a key role in the regulation of pubertal development,
… , or familial precocious puberty limited to the male, is caused by germline mutations with …

… genes. Using next generation sequencing in a large family with isolated self-limited delayed
puberty, a pathogenic mutation in the CHH gene … and inactivating mutations in KISS1 and …