FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2045404208> ?p ?o ?g. }

• W2045404208 abstract "Pubertal timing is a strongly heritable trait, but no single puberty gene has been identified. Thus, the genetic background of idiopathic central precocious puberty (ICPP) is poorly understood. Overall, the genetic modulation of pubertal onset most likely arises from the additive effect of multiple genes, but also monogenic causes of ICPP probably exist, as cases of familial ICPP have been reported. Mutations in KISS1 and KISSR, coding for kisspeptin and its receptor, involved in GnRH secretion and puberty onset, have been suggested causative for monogenic ICPP. Variation in LIN28B was associated with timing of puberty in genome-wide association (GWA) studies. LIN28B is a human ortholog of the gene that controls, through microRNAs, developmental timing in C. elegans. In addition, Lin28a transgenic mice manifest the puberty phenotypes identified in the human GWAS. Thus, both LIN28B and LIN28A may have a role in pubertal development and are good candidate genes for monogenic ICPP.Thirty girls with ICPP were included in the study. ICPP was defined by pubertal onset before 8 yrs of age, and a pubertal LH response to GnRH testing. The coding regions of LIN28B, LIN28A, KISS1, and KISS1R were sequenced. The missense change in LIN28B was also screened in 132 control subjects.No rare variants were detected in KISS1 or KISS1R in the 30 subjects with ICPP. In LIN28B, one missense change, His199Arg, was found in one subject with ICPP. However, this variant was also detected in one of the 132 controls. No variation in LIN28A was found.We did not find any evidence that mutations in LIN28B or LIN28A would underlie ICPP. In addition, we confirmed that mutations in KISS1 and KISS1R are not a common cause for ICPP." @default.
• W2045404208 created "2016-06-24" @default.
• W2045404208 creator A5000836478 @default.
• W2045404208 creator A5043032220 @default.
• W2045404208 creator A5045917807 @default.
• W2045404208 creator A5054374244 @default.
• W2045404208 creator A5074719749 @default.
• W2045404208 creator A5075290042 @default.
• W2045404208 creator A5077053696 @default.
• W2045404208 date "2011-09-22" @default.
• W2045404208 modified "2023-10-10" @default.
• W2045404208 title "LIN28B, LIN28A, KISS1, and KISS1R in idiopathic central precocious puberty" @default.
• W2045404208 cites W1973307975 @default.
• W2045404208 cites W1979769917 @default.
• W2045404208 cites W1983421009 @default.
• W2045404208 cites W1984497969 @default.
• W2045404208 cites W2012523959 @default.
• W2045404208 cites W2013104189 @default.
• W2045404208 cites W2049725427 @default.
• W2045404208 cites W2060731979 @default.
• W2045404208 cites W2081422943 @default.
• W2045404208 cites W2085463723 @default.
• W2045404208 cites W2094323986 @default.
• W2045404208 cites W2107615221 @default.
• W2045404208 cites W2109372707 @default.
• W2045404208 cites W2115976287 @default.
• W2045404208 cites W2116362436 @default.
• W2045404208 cites W2136326352 @default.
• W2045404208 cites W2142686356 @default.
• W2045404208 cites W2144716768 @default.
• W2045404208 cites W2146337515 @default.
• W2045404208 cites W2156849151 @default.
• W2045404208 cites W2326191541 @default.
• W2045404208 doi "https://doi.org/10.1186/1756-0500-4-363" @default.
• W2045404208 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/3184284" @default.
• W2045404208 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/21939553" @default.
• W2045404208 hasPublicationYear "2011" @default.
• W2045404208 type Work @default.
• W2045404208 sameAs 2045404208 @default.
• W2045404208 citedByCount "39" @default.
• W2045404208 countsByYear W20454042082012 @default.
• W2045404208 countsByYear W20454042082013 @default.
• W2045404208 countsByYear W20454042082014 @default.
• W2045404208 countsByYear W20454042082015 @default.
• W2045404208 countsByYear W20454042082016 @default.
• W2045404208 countsByYear W20454042082017 @default.
• W2045404208 countsByYear W20454042082018 @default.
• W2045404208 countsByYear W20454042082019 @default.
• W2045404208 countsByYear W20454042082020 @default.
• W2045404208 countsByYear W20454042082021 @default.
• W2045404208 countsByYear W20454042082022 @default.
• W2045404208 countsByYear W20454042082023 @default.
• W2045404208 crossrefType "journal-article" @default.
• W2045404208 hasAuthorship W2045404208A5000836478 @default.
• W2045404208 hasAuthorship W2045404208A5043032220 @default.
• W2045404208 hasAuthorship W2045404208A5045917807 @default.
• W2045404208 hasAuthorship W2045404208A5054374244 @default.
• W2045404208 hasAuthorship W2045404208A5074719749 @default.
• W2045404208 hasAuthorship W2045404208A5075290042 @default.
• W2045404208 hasAuthorship W2045404208A5077053696 @default.
• W2045404208 hasBestOaLocation W20454042081 @default.
• W2045404208 hasConcept C104317684 @default.
• W2045404208 hasConcept C127716648 @default.
• W2045404208 hasConcept C134018914 @default.
• W2045404208 hasConcept C170493617 @default.
• W2045404208 hasConcept C2776808119 @default.
• W2045404208 hasConcept C54355233 @default.
• W2045404208 hasConcept C71924100 @default.
• W2045404208 hasConcept C75563809 @default.
• W2045404208 hasConcept C86803240 @default.
• W2045404208 hasConceptScore W2045404208C104317684 @default.
• W2045404208 hasConceptScore W2045404208C127716648 @default.
• W2045404208 hasConceptScore W2045404208C134018914 @default.
• W2045404208 hasConceptScore W2045404208C170493617 @default.
• W2045404208 hasConceptScore W2045404208C2776808119 @default.
• W2045404208 hasConceptScore W2045404208C54355233 @default.
• W2045404208 hasConceptScore W2045404208C71924100 @default.
• W2045404208 hasConceptScore W2045404208C75563809 @default.
• W2045404208 hasConceptScore W2045404208C86803240 @default.
• W2045404208 hasIssue "1" @default.
• W2045404208 hasLocation W20454042081 @default.
• W2045404208 hasLocation W20454042082 @default.
• W2045404208 hasLocation W20454042083 @default.
• W2045404208 hasLocation W20454042084 @default.
• W2045404208 hasLocation W20454042085 @default.
• W2045404208 hasOpenAccess W2045404208 @default.
• W2045404208 hasPrimaryLocation W20454042081 @default.
• W2045404208 hasRelatedWork W1530402712 @default.
• W2045404208 hasRelatedWork W1993437185 @default.
• W2045404208 hasRelatedWork W2050451211 @default.
• W2045404208 hasRelatedWork W2103476998 @default.
• W2045404208 hasRelatedWork W2132993604 @default.
• W2045404208 hasRelatedWork W2143066563 @default.
• W2045404208 hasRelatedWork W2157166663 @default.
• W2045404208 hasRelatedWork W3032357680 @default.
• W2045404208 hasRelatedWork W3200785218 @default.
• W2045404208 hasRelatedWork W4220748796 @default.
• W2045404208 hasVolume "4" @default.
• W2045404208 isParatext "false" @default.
• W2045404208 isRetracted "false" @default.

• next