The first Japanese case of central precocious puberty with a novel MKRN3 mutation
Sign Up to like & getrecommendations! Published in 2017 at "Human Genome Variation"
DOI: 10.1038/hgv.2017.17
Abstract: MKRN3, located on chromosome 15q11.2, encodes makorin ring-finger 3, which is an upstream suppressor of the hypothalamic-pituitary-gonadal axis. Mutation of this gene induces central precocious puberty (CPP). As MKRN3 is maternally imprinted, only the paternal… read more here.
Keywords: mkrn3; precocious puberty; first japanese; central precocious ... See more keywords
Evolutionary Conservation of MKRN3 and Other Makorins and Their Roles in Puberty Initiation and Endocrine Functions.
Sign Up to like & getrecommendations! Published in 2019 at "Seminars in reproductive medicine"
DOI: 10.1055/s-0039-3400965
Abstract: Puberty is a critical period of development regulated by genetic, nutritional, and environmental factors. The role of makorin ring finger protein 3 (MKRN3) in the regulation of pubertal timing was revealed when loss-of-function mutations were… read more here.
Keywords: mkrn3; endocrine functions; initiation endocrine; evolutionary conservation ... See more keywords
MKRN3 Levels in Girls with Central Precocious Puberty during GnRHa Treatment: A Longitudinal Study
Sign Up to like & getrecommendations! Published in 2018 at "Hormone Research in Paediatrics"
DOI: 10.1159/000493134
Abstract: Background: Recently, mutations of makorin RING finger protein 3 (MKRN3) have been identified in familial central precocious puberty (CPP). Serum levels of this protein decline before the pubertal onset in healthy girls and boys and… read more here.
Keywords: mkrn3; gnrha treatment; mkrn3 levels; treatment ... See more keywords
SAT-LB047 Circulating IGF-1, MKRN3, and Kisspeptin in Girls during the Onset of Puberty
Sign Up to like & getrecommendations! Published in 2019 at "Journal of the Endocrine Society"
DOI: 10.1210/js.2019-sat-lb047
Abstract: Abstract Objective To evaluate the differences of serum IGF-1, MKRN3 and kisspeptin in girls with central precocious puberty, rapidly progressive puberty, premature thelarche and control group, explore their roles in the initiation of puberty, and… read more here.
Keywords: hpga; puberty; level; mkrn3 ... See more keywords
Mkrn3 functions as a novel ubiquitin E3 ligase to inhibit Nptx1 during puberty initiation
Sign Up to like & getrecommendations! Published in 2017 at "Oncotarget"
DOI: 10.18632/oncotarget.19347
Abstract: Central precocious puberty (CPP) is attributed to the disorder of some trigger factors those can activate the hypothalamic-pituitary-gonadal axis controlled by GnRH neurons. Many recent studies reveal one of those trigger factors, Makorin ring finger… read more here.
Keywords: puberty initiation; ubiquitin ligase; puberty; mkrn3 ... See more keywords