FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3094611972> ?p ?o ?g. }

• W3094611972 abstract "Abstract Background Genome-wide association studies have identified the CDC7-TGFBR3 intergenic region on chromosome 1 to be strongly associated with optic disc area size. The mechanism of its function remained unclear until new data on eQTL markers emerged from the Genotype-Tissue Expression project. The target region was found to contain a strong silencer of the distal (800 kb) Transcription Factor (TF) gene GFI1 (Growth Factor Independent Transcription Repressor 1) specifically in neuroendocrine cells (pituitary gland). GFI1 has also been reported to be involved in the development of sensory neurons and hematopoiesis. Therefore, GFI1, being a developmental gene, is likely to affect optic disc area size by altering the expression of the associated genes via long-range interactions. Results Distribution of haplotypes in the putative enhancer region has been assessed using the data on four continental supergroups generated by the 1000 Genomes Project. The East Asian (EAS) populations were shown to manifest a highly homogenous unimodal haplotype distribution pattern within the region with the major haplotype occurring with the frequency of 0.9. Another European specific haplotype was observed with the frequency of 0.21. The major haplotype appears to be involved in silencing GFI1 repressor gene expression, which might be the cause of increased optic disc area characteristic of the EAS populations. The enhancer/eQTL region overlaps AluJo element, which implies that this particular regulatory element is primate-specific and confined to few tissues. Conclusion Population specific distribution of GFI1 enhancer alleles may predispose certain ethnic groups to glaucoma." @default.
• W3094611972 created "2020-10-29" @default.
• W3094611972 creator A5012350261 @default.
• W3094611972 creator A5061656648 @default.
• W3094611972 creator A5091318239 @default.
• W3094611972 date "2020-10-01" @default.
• W3094611972 modified "2023-10-06" @default.
• W3094611972 title "Analyzing a putative enhancer of optic disc morphology" @default.
• W3094611972 cites W1533942137 @default.
• W3094611972 cites W1685101501 @default.
• W3094611972 cites W1844361913 @default.
• W3094611972 cites W1912917036 @default.
• W3094611972 cites W1998060270 @default.
• W3094611972 cites W1998306196 @default.
• W3094611972 cites W2015845481 @default.
• W3094611972 cites W2017350075 @default.
• W3094611972 cites W2022859149 @default.
• W3094611972 cites W2023386301 @default.
• W3094611972 cites W2033201031 @default.
• W3094611972 cites W2044826047 @default.
• W3094611972 cites W2047125385 @default.
• W3094611972 cites W2076026993 @default.
• W3094611972 cites W2090037139 @default.
• W3094611972 cites W2096791516 @default.
• W3094611972 cites W2099085143 @default.
• W3094611972 cites W2101186976 @default.
• W3094611972 cites W2102659607 @default.
• W3094611972 cites W2112356889 @default.
• W3094611972 cites W2114068481 @default.
• W3094611972 cites W2117446594 @default.
• W3094611972 cites W2117792884 @default.
• W3094611972 cites W2127868030 @default.
• W3094611972 cites W2132846716 @default.
• W3094611972 cites W2133076752 @default.
• W3094611972 cites W2134279284 @default.
• W3094611972 cites W2148114118 @default.
• W3094611972 cites W2156714600 @default.
• W3094611972 cites W2157550210 @default.
• W3094611972 cites W2176574121 @default.
• W3094611972 cites W2227595938 @default.
• W3094611972 cites W2259938310 @default.
• W3094611972 cites W2268233512 @default.
• W3094611972 cites W2288235340 @default.
• W3094611972 cites W2289390398 @default.
• W3094611972 cites W2414035669 @default.
• W3094611972 cites W2463715377 @default.
• W3094611972 cites W2568000928 @default.
• W3094611972 cites W2577094400 @default.
• W3094611972 cites W2591197791 @default.
• W3094611972 cites W2606675097 @default.
• W3094611972 cites W2767749844 @default.
• W3094611972 cites W2898595948 @default.
• W3094611972 cites W2901749533 @default.
• W3094611972 cites W2923571344 @default.
• W3094611972 cites W2950528562 @default.
• W3094611972 doi "https://doi.org/10.1186/s12863-020-00873-z" @default.
• W3094611972 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7583307" @default.
• W3094611972 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/33092545" @default.
• W3094611972 hasPublicationYear "2020" @default.
• W3094611972 type Work @default.
• W3094611972 sameAs 3094611972 @default.
• W3094611972 citedByCount "2" @default.
• W3094611972 countsByYear W30946119722020 @default.
• W3094611972 countsByYear W30946119722021 @default.
• W3094611972 crossrefType "journal-article" @default.
• W3094611972 hasAuthorship W3094611972A5012350261 @default.
• W3094611972 hasAuthorship W3094611972A5061656648 @default.
• W3094611972 hasAuthorship W3094611972A5091318239 @default.
• W3094611972 hasBestOaLocation W30946119721 @default.
• W3094611972 hasConcept C104317684 @default.
• W3094611972 hasConcept C111936080 @default.
• W3094611972 hasConcept C135763542 @default.
• W3094611972 hasConcept C144024400 @default.
• W3094611972 hasConcept C149923435 @default.
• W3094611972 hasConcept C153209595 @default.
• W3094611972 hasConcept C158448853 @default.
• W3094611972 hasConcept C168393362 @default.
• W3094611972 hasConcept C180754005 @default.
• W3094611972 hasConcept C197754878 @default.
• W3094611972 hasConcept C2908647359 @default.
• W3094611972 hasConcept C54355233 @default.
• W3094611972 hasConcept C86339819 @default.
• W3094611972 hasConcept C86803240 @default.
• W3094611972 hasConceptScore W3094611972C104317684 @default.
• W3094611972 hasConceptScore W3094611972C111936080 @default.
• W3094611972 hasConceptScore W3094611972C135763542 @default.
• W3094611972 hasConceptScore W3094611972C144024400 @default.
• W3094611972 hasConceptScore W3094611972C149923435 @default.
• W3094611972 hasConceptScore W3094611972C153209595 @default.
• W3094611972 hasConceptScore W3094611972C158448853 @default.
• W3094611972 hasConceptScore W3094611972C168393362 @default.
• W3094611972 hasConceptScore W3094611972C180754005 @default.
• W3094611972 hasConceptScore W3094611972C197754878 @default.
• W3094611972 hasConceptScore W3094611972C2908647359 @default.
• W3094611972 hasConceptScore W3094611972C54355233 @default.
• W3094611972 hasConceptScore W3094611972C86339819 @default.
• W3094611972 hasConceptScore W3094611972C86803240 @default.
• W3094611972 hasFunder F4320324099 @default.
• W3094611972 hasLocation W30946119721 @default.
• W3094611972 hasLocation W30946119722 @default.

• next