FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W4377091852> ?p ?o ?g. }

• W4377091852 endingPage "16" @default.
• W4377091852 startingPage "16" @default.
• W4377091852 abstract "Purpose: In the United States, 70% of Fuchs’ endothelial corneal dystrophy (FECD) cases are caused by an intronic trinucleotide repeat expansion in the TCF4 gene. CUG repeat RNA transcripts from this expansion accumulate as nuclear foci in the corneal endothelium. In this study, we sought to detect foci in other anterior segment cell types and assess their molecular impact. Methods: We examined CUG repeat RNA foci appearance, expression of downstream affected genes, gene splicing, and TCF4 RNA expression in corneal endothelium, corneal stromal keratocytes, corneal epithelium, trabecular meshwork cells, and lens epithelium. Results: CUG repeat RNA foci, the hallmark of FECD in corneal endothelium (found in 84% of endothelial cells), are less detectable in trabecular meshwork cells (41%), much less prevalent in stromal keratocytes (11%) or corneal epithelium (4%), and absent in lens epithelium. With few exceptions including mis-splicing in the trabecular meshwork, differential gene expression and splicing changes associated with the expanded repeat in corneal endothelial cells are not observed in other cell types. Expression of the TCF4 transcripts including full-length isoforms containing the repeat sequence at the 5′ end is much higher in the corneal endothelium or trabecular meshwork than in the corneal stroma or corneal epithelium. Conclusions: Expression of the CUG repeat containing TCF4 transcripts is higher in the corneal endothelium, likely contributing to foci formation and the large molecular and pathologic impact on those cells. Further studies are warranted to examine any glaucoma risk and impact of the observed foci in the trabecular meshwork of these patients." @default.
• W4377091852 created "2023-05-20" @default.
• W4377091852 creator A5000992914 @default.
• W4377091852 creator A5029546833 @default.
• W4377091852 creator A5044865944 @default.
• W4377091852 creator A5066311786 @default.
• W4377091852 creator A5070090204 @default.
• W4377091852 date "2023-05-19" @default.
• W4377091852 modified "2023-10-18" @default.
• W4377091852 title "The <i>TCF4</i> Trinucleotide Repeat Expansion of Fuchs’ Endothelial Corneal Dystrophy: Implications for the Anterior Segment of the Eye" @default.
• W4377091852 cites W184641614 @default.
• W4377091852 cites W1896638865 @default.
• W4377091852 cites W1968463757 @default.
• W4377091852 cites W1975711081 @default.
• W4377091852 cites W1982594013 @default.
• W4377091852 cites W1984359015 @default.
• W4377091852 cites W1990604299 @default.
• W4377091852 cites W1990720518 @default.
• W4377091852 cites W2003431583 @default.
• W4377091852 cites W2028730964 @default.
• W4377091852 cites W2030663973 @default.
• W4377091852 cites W2032107927 @default.
• W4377091852 cites W2035578489 @default.
• W4377091852 cites W2039598802 @default.
• W4377091852 cites W2050466242 @default.
• W4377091852 cites W2050468307 @default.
• W4377091852 cites W2066976150 @default.
• W4377091852 cites W2084654178 @default.
• W4377091852 cites W2095525625 @default.
• W4377091852 cites W2096846421 @default.
• W4377091852 cites W2106921579 @default.
• W4377091852 cites W2107739410 @default.
• W4377091852 cites W2156426306 @default.
• W4377091852 cites W2181511066 @default.
• W4377091852 cites W2214747422 @default.
• W4377091852 cites W2333735134 @default.
• W4377091852 cites W2410588511 @default.
• W4377091852 cites W2412400123 @default.
• W4377091852 cites W2753452438 @default.
• W4377091852 cites W2783862421 @default.
• W4377091852 cites W2792242994 @default.
• W4377091852 cites W2793740592 @default.
• W4377091852 cites W2883372159 @default.
• W4377091852 cites W2904375316 @default.
• W4377091852 cites W2952772985 @default.
• W4377091852 cites W2977127603 @default.
• W4377091852 cites W3031329779 @default.
• W4377091852 cites W3108414137 @default.
• W4377091852 cites W3161712179 @default.
• W4377091852 cites W3183398458 @default.
• W4377091852 cites W3215248284 @default.
• W4377091852 cites W4233377173 @default.
• W4377091852 cites W4293565863 @default.
• W4377091852 doi "https://doi.org/10.1167/iovs.64.5.16" @default.
• W4377091852 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/37204786" @default.
• W4377091852 hasPublicationYear "2023" @default.
• W4377091852 type Work @default.
• W4377091852 citedByCount "0" @default.
• W4377091852 crossrefType "journal-article" @default.
• W4377091852 hasAuthorship W4377091852A5000992914 @default.
• W4377091852 hasAuthorship W4377091852A5029546833 @default.
• W4377091852 hasAuthorship W4377091852A5044865944 @default.
• W4377091852 hasAuthorship W4377091852A5066311786 @default.
• W4377091852 hasAuthorship W4377091852A5070090204 @default.
• W4377091852 hasBestOaLocation W43770918521 @default.
• W4377091852 hasConcept C104317684 @default.
• W4377091852 hasConcept C142724271 @default.
• W4377091852 hasConcept C16930146 @default.
• W4377091852 hasConcept C169760540 @default.
• W4377091852 hasConcept C2775901793 @default.
• W4377091852 hasConcept C2776882836 @default.
• W4377091852 hasConcept C2776992346 @default.
• W4377091852 hasConcept C2778527774 @default.
• W4377091852 hasConcept C2778615650 @default.
• W4377091852 hasConcept C2778982777 @default.
• W4377091852 hasConcept C2779257441 @default.
• W4377091852 hasConcept C2781121420 @default.
• W4377091852 hasConcept C502942594 @default.
• W4377091852 hasConcept C529295009 @default.
• W4377091852 hasConcept C54355233 @default.
• W4377091852 hasConcept C71924100 @default.
• W4377091852 hasConcept C86803240 @default.
• W4377091852 hasConceptScore W4377091852C104317684 @default.
• W4377091852 hasConceptScore W4377091852C142724271 @default.
• W4377091852 hasConceptScore W4377091852C16930146 @default.
• W4377091852 hasConceptScore W4377091852C169760540 @default.
• W4377091852 hasConceptScore W4377091852C2775901793 @default.
• W4377091852 hasConceptScore W4377091852C2776882836 @default.
• W4377091852 hasConceptScore W4377091852C2776992346 @default.
• W4377091852 hasConceptScore W4377091852C2778527774 @default.
• W4377091852 hasConceptScore W4377091852C2778615650 @default.
• W4377091852 hasConceptScore W4377091852C2778982777 @default.
• W4377091852 hasConceptScore W4377091852C2779257441 @default.
• W4377091852 hasConceptScore W4377091852C2781121420 @default.
• W4377091852 hasConceptScore W4377091852C502942594 @default.
• W4377091852 hasConceptScore W4377091852C529295009 @default.
• W4377091852 hasConceptScore W4377091852C54355233 @default.
• W4377091852 hasConceptScore W4377091852C71924100 @default.

• next