FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W2894045711> ?p ?o ?g. }

• W2894045711 endingPage "4748" @default.
• W2894045711 startingPage "4748" @default.
• W2894045711 abstract "To assess the occurrence and diagnostic performance of nine single-nucleotide variants (SNVs) in the TCF4, SLC4A11, LOXHD1, and AGBL1 genes and the CTG18.1 trinucleotide repeat expansion in a Russian cohort of Fuchs' endothelial corneal dystrophy (FECD) patients.This retrospective case-control study included 100 patients diagnosed with FECD (cases) and 100 patients with cataracts (controls). Blood DNA was used to perform PCR and subsequent Sanger sequencing of rs613872 and rs17595731 in TCF4, c.99-100delTC, rs267607065, rs267607064, and rs267607066 in SLC4A11, rs113444922 in LOXHD1, and rs181958589 and rs185919705 in AGBL1. The number of CTG18.1 trinucleotide repeats was determined by a combination of conventional PCR or triplet primed PCR with fragment analysis.At least one rs613872 marker allele was found in 78% of FECD patients and 21% of controls, and at least one rs17595731 marker allele was found in 14% and 2%, respectively. CTG18.1 trinucleotide expansion (>40 repeats) was detected in 72% of FECD patients and 5% of controls. Marker alleles of the tested SNVs in SLC4A11, LOXHD1, and rs185919705 in AGBL1 were not found in our FECD cohort. One FECD patient carried the marker allele of the rs181958589 SNV. Analysis of the diagnostic performance of individual markers in TCF4 and their combinations showed that the CTG18.1 repeat expansion was the best classifier for FECD (AUC = 0.84).Patients carrying CTG18.1 repeat expansion constituted a high proportion of the Russian FECD cohort; therefore, this marker is suitable for development of diagnostic and therapeutic approaches." @default.
• W2894045711 created "2018-10-05" @default.
• W2894045711 creator A5001191958 @default.
• W2894045711 creator A5004620883 @default.
• W2894045711 creator A5024118273 @default.
• W2894045711 creator A5027119732 @default.
• W2894045711 creator A5055209930 @default.
• W2894045711 creator A5057915925 @default.
• W2894045711 creator A5064372350 @default.
• W2894045711 creator A5091795786 @default.
• W2894045711 date "2018-09-28" @default.
• W2894045711 modified "2023-10-04" @default.
• W2894045711 title "CTG18.1 Expansion is the Best Classifier of Late-Onset Fuchs' Corneal Dystrophy Among 10 Biomarkers in a Cohort From the European Part of Russia" @default.
• W2894045711 cites W1785063278 @default.
• W2894045711 cites W1896638865 @default.
• W2894045711 cites W1953262204 @default.
• W2894045711 cites W1968463757 @default.
• W2894045711 cites W1969630677 @default.
• W2894045711 cites W1974439022 @default.
• W2894045711 cites W1988619572 @default.
• W2894045711 cites W1990505281 @default.
• W2894045711 cites W1990604299 @default.
• W2894045711 cites W1992709169 @default.
• W2894045711 cites W2000913799 @default.
• W2894045711 cites W2002171313 @default.
• W2894045711 cites W2004673907 @default.
• W2894045711 cites W2030663973 @default.
• W2894045711 cites W2032019813 @default.
• W2894045711 cites W2051038429 @default.
• W2894045711 cites W2055803939 @default.
• W2894045711 cites W2057087580 @default.
• W2894045711 cites W2062598900 @default.
• W2894045711 cites W2070969308 @default.
• W2894045711 cites W2078391515 @default.
• W2894045711 cites W2081118903 @default.
• W2894045711 cites W2083874491 @default.
• W2894045711 cites W2095525625 @default.
• W2894045711 cites W2098466396 @default.
• W2894045711 cites W2106921579 @default.
• W2894045711 cites W2130191977 @default.
• W2894045711 cites W2137262127 @default.
• W2894045711 cites W2140529609 @default.
• W2894045711 cites W2141699676 @default.
• W2894045711 cites W2160479367 @default.
• W2894045711 cites W2166118324 @default.
• W2894045711 cites W2322911444 @default.
• W2894045711 cites W2328763745 @default.
• W2894045711 cites W2333735134 @default.
• W2894045711 cites W2531649569 @default.
• W2894045711 cites W2582255770 @default.
• W2894045711 cites W2598821684 @default.
• W2894045711 cites W2627078690 @default.
• W2894045711 cites W2765942504 @default.
• W2894045711 cites W2768925656 @default.
• W2894045711 cites W2783862421 @default.
• W2894045711 cites W2792242994 @default.
• W2894045711 doi "https://doi.org/10.1167/iovs.18-24590" @default.
• W2894045711 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/30267097" @default.
• W2894045711 hasPublicationYear "2018" @default.
• W2894045711 type Work @default.
• W2894045711 sameAs 2894045711 @default.
• W2894045711 citedByCount "9" @default.
• W2894045711 countsByYear W28940457112019 @default.
• W2894045711 countsByYear W28940457112021 @default.
• W2894045711 countsByYear W28940457112023 @default.
• W2894045711 crossrefType "journal-article" @default.
• W2894045711 hasAuthorship W2894045711A5001191958 @default.
• W2894045711 hasAuthorship W2894045711A5004620883 @default.
• W2894045711 hasAuthorship W2894045711A5024118273 @default.
• W2894045711 hasAuthorship W2894045711A5027119732 @default.
• W2894045711 hasAuthorship W2894045711A5055209930 @default.
• W2894045711 hasAuthorship W2894045711A5057915925 @default.
• W2894045711 hasAuthorship W2894045711A5064372350 @default.
• W2894045711 hasAuthorship W2894045711A5091795786 @default.
• W2894045711 hasBestOaLocation W28940457111 @default.
• W2894045711 hasConcept C104317684 @default.
• W2894045711 hasConcept C118487528 @default.
• W2894045711 hasConcept C126322002 @default.
• W2894045711 hasConcept C135763542 @default.
• W2894045711 hasConcept C139275648 @default.
• W2894045711 hasConcept C153209595 @default.
• W2894045711 hasConcept C166252455 @default.
• W2894045711 hasConcept C180754005 @default.
• W2894045711 hasConcept C2776882836 @default.
• W2894045711 hasConcept C2778982777 @default.
• W2894045711 hasConcept C51679486 @default.
• W2894045711 hasConcept C54355233 @default.
• W2894045711 hasConcept C71924100 @default.
• W2894045711 hasConcept C72563966 @default.
• W2894045711 hasConcept C76818968 @default.
• W2894045711 hasConcept C86803240 @default.
• W2894045711 hasConceptScore W2894045711C104317684 @default.
• W2894045711 hasConceptScore W2894045711C118487528 @default.
• W2894045711 hasConceptScore W2894045711C126322002 @default.
• W2894045711 hasConceptScore W2894045711C135763542 @default.
• W2894045711 hasConceptScore W2894045711C139275648 @default.
• W2894045711 hasConceptScore W2894045711C153209595 @default.
• W2894045711 hasConceptScore W2894045711C166252455 @default.

• next