FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4387396623> ?p ?o ?g. }

• W4387396623 endingPage "e79" @default.
• W4387396623 startingPage "e79" @default.
• W4387396623 abstract "Uterine leiomyomas are the most common tumor of reproductive-age women worldwide. Although benign, uterine fibroids cause significant morbidity and adversely impact the quality of life for affected women. Somatic mutations in the MED-12 gene represent the most common single gene mutation associated with uterine leiomyomas. The objective of this review was to evaluate the current understanding of the role of MED-12 mutation in the pathophysiology of uterine fibroids, to assess the prevalence of MED-12 mutation among different populations, and to identify the most common subtypes of MED-12 mutations found in uterine fibroids. A comprehensive search was conducted on Pubmed, Embase, Scopus, and Web of Science. English-language publications that evaluated MED-12 mutation and uterine fibroids in humans, whether experimental or clinical, were considered. Articles found to be case studies, case series, letters, comments, reviews, or editorials were excluded. We identified 380 studies, of which 23 were included, comprising 1353 patients and 1872 fibroid tumors. The overall average prevalence of MED-12 mutation in uterine fibroids was found to be 55.8% across the global population, ranging from 31.1% to 80% among the included studies. The most common type of MED-12 mutation was a heterozygous missense mutation affecting codon 44 of exon 2, specifically the nucleotide 131. In regard to the mechanism involved in altered fibroids signaling, studies reported that MED-12 mutation acts by increasing levels of AKT and disrupting the cyclin C-CDK8/19 kinase activity. This review confirmed the association between MED-12 mutation and fibroids, with an overall prevalence of 55.8%. However, it is not possible to determine whether the association between MED-12 mutation and leiomyoma is causative for this condition or arises during the pathogenesis of fibroid formation because almost 44% of fibroids lacked the mutation. The wide variation in the prevalence of MED-12 mutation in leiomyomas among different populations, ranging between 31.1% to 80%, might suggest that other genomic alterations may be present in women of different ethnicities. The low prevalence of MED-12 mutation of about 30% can suggest that in different populations, mechanisms other than MED-12 mutation may lead to fibroid formation. The mutation in the MED-12 gene acts through different pathways that culminate in the growth and proliferation of myometrial cells and the impairment of autophagy. Further research is needed to determine how MED-12 mutations may contribute to the pathophysiology of uterine fibroids." @default.
• W4387396623 created "2023-10-07" @default.
• W4387396623 creator A5016148637 @default.
• W4387396623 creator A5022347703 @default.
• W4387396623 creator A5025291909 @default.
• W4387396623 creator A5092566392 @default.
• W4387396623 date "2023-10-01" @default.
• W4387396623 modified "2023-10-07" @default.
• W4387396623 title "THE MEDIATOR COMPLEX SUBUNIT 12 (MED-12) GENE AND UTERINE FIBROIDS: A SYSTEMATIC REVIEW" @default.
• W4387396623 doi "https://doi.org/10.1016/j.fertnstert.2023.08.238" @default.
• W4387396623 hasPublicationYear "2023" @default.
• W4387396623 type Work @default.
• W4387396623 citedByCount "0" @default.
• W4387396623 crossrefType "journal-article" @default.
• W4387396623 hasAuthorship W4387396623A5016148637 @default.
• W4387396623 hasAuthorship W4387396623A5022347703 @default.
• W4387396623 hasAuthorship W4387396623A5025291909 @default.
• W4387396623 hasAuthorship W4387396623A5092566392 @default.
• W4387396623 hasBestOaLocation W43873966231 @default.
• W4387396623 hasConcept C104317684 @default.
• W4387396623 hasConcept C13514818 @default.
• W4387396623 hasConcept C142724271 @default.
• W4387396623 hasConcept C143998085 @default.
• W4387396623 hasConcept C2777795800 @default.
• W4387396623 hasConcept C2780566971 @default.
• W4387396623 hasConcept C29456083 @default.
• W4387396623 hasConcept C2994225774 @default.
• W4387396623 hasConcept C3017725331 @default.
• W4387396623 hasConcept C501734568 @default.
• W4387396623 hasConcept C54355233 @default.
• W4387396623 hasConcept C60644358 @default.
• W4387396623 hasConcept C71924100 @default.
• W4387396623 hasConcept C75563809 @default.
• W4387396623 hasConcept C86803240 @default.
• W4387396623 hasConceptScore W4387396623C104317684 @default.
• W4387396623 hasConceptScore W4387396623C13514818 @default.
• W4387396623 hasConceptScore W4387396623C142724271 @default.
• W4387396623 hasConceptScore W4387396623C143998085 @default.
• W4387396623 hasConceptScore W4387396623C2777795800 @default.
• W4387396623 hasConceptScore W4387396623C2780566971 @default.
• W4387396623 hasConceptScore W4387396623C29456083 @default.
• W4387396623 hasConceptScore W4387396623C2994225774 @default.
• W4387396623 hasConceptScore W4387396623C3017725331 @default.
• W4387396623 hasConceptScore W4387396623C501734568 @default.
• W4387396623 hasConceptScore W4387396623C54355233 @default.
• W4387396623 hasConceptScore W4387396623C60644358 @default.
• W4387396623 hasConceptScore W4387396623C71924100 @default.
• W4387396623 hasConceptScore W4387396623C75563809 @default.
• W4387396623 hasConceptScore W4387396623C86803240 @default.
• W4387396623 hasIssue "4" @default.
• W4387396623 hasLocation W43873966231 @default.
• W4387396623 hasOpenAccess W4387396623 @default.
• W4387396623 hasPrimaryLocation W43873966231 @default.
• W4387396623 hasRelatedWork W1978864430 @default.
• W4387396623 hasRelatedWork W2102130079 @default.
• W4387396623 hasRelatedWork W2128981932 @default.
• W4387396623 hasRelatedWork W2140518806 @default.
• W4387396623 hasRelatedWork W2189303525 @default.
• W4387396623 hasRelatedWork W2369345345 @default.
• W4387396623 hasRelatedWork W2375488050 @default.
• W4387396623 hasRelatedWork W2381355300 @default.
• W4387396623 hasRelatedWork W2903483444 @default.
• W4387396623 hasRelatedWork W3015895414 @default.
• W4387396623 hasVolume "120" @default.
• W4387396623 isParatext "false" @default.
• W4387396623 isRetracted "false" @default.
• W4387396623 workType "article" @default.