Dysregulation of the TCF4 Isoform in Corneal Endothelial Cells of Patients With Fuchs Endothelial Corneal Dystrophy

• Published in: Investigative ophthalmology & visual science Vol. 65; no. 6; p. 27
• Main Authors: Honda, Tetsuro, Nakagawa, Tatsuya, Yuasa, Taichi, Tokuda, Yuichi, Nakano, Masakazu, Tashiro, Kei, Tourtas, Theofilos, Schlötzer-Schrehardt, Ursula, Kruse, Friedrich, Yamamoto, Koji, Koizumi, Noriko, Okumura, Naoki
• Format: Journal Article
• Language: English
• Published: United States The Association for Research in Vision and Ophthalmology 17.06.2024
• Subjects: Aged; Cornea; Endothelium, Corneal - metabolism; Endothelium, Corneal - pathology; Exons - genetics; Female; Fuchs' Endothelial Dystrophy - genetics; Fuchs' Endothelial Dystrophy - metabolism; Gene Expression Regulation; Humans; Male; Middle Aged; Protein Isoforms - genetics; Transcription Factor 4 - genetics; Transcription Factor 4 - metabolism; Trinucleotide Repeat Expansion - genetics

This study evaluated the dysregulation of TCF4 isoforms and differential exon usage (DEU) in corneal endothelial cells (CECs) of Fuchs endothelial corneal dystrophy (FECD) with or without trinucleotide repeat (TNR) expansion in the intron region of the TCF4 gene. Three RNA-Seq datasets of CECs (our...