Three differential alternative splicing events in Fuchs’ endothelial corneal dystrophy patients with the <i>TCF4</i> CTG18.1 expansion compared with controls without the expansion.

<p>The Sashimi plots depicted the three skipped exon events, as described in <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0332512#pone.0332512.t004" target="_blank">Table 4</a>, observed in all the 3 individual studies of RE+ cases vs RE...

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Main Author:	Xunzhi Zhang (14631644) (author)
Other Authors:	Ze Yu (1783576) (author), Aundrea K. Westfall (6169718) (author), Kunyi Han (22265237) (author), V. Vinod Mootha (6264278) (author), Chao Xing (28961) (author)
Published:	2025
Subjects:	Biochemistry Medicine Cell Biology Genetics Molecular Biology Developmental Biology Infectious Diseases Virology Computational Biology Biological Sciences not elsewhere classified xlink "> analyses upstream regulator analysis three genes —< skipped exon events individuals may contribute differentially expressed genes alternative splicing analysis transcriptomic analysis implicates rbm20 may represent motif enrichment analysis expression network module >— consistently identified transcriptomic profiles rbm20 </ two thirds tcf4 </ structure prediction specific factor sorbs1 </ molecular mechanisms high degree given co fourth decade fnbp1 </ expression levels dst </ cornea manifesting
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Three differential alternative splicing events in Fuchs’ endothelial corneal dystrophy patients with the <i>TCF4</i> CTG18.1 expansion compared with controls without the expansion.

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