Fuchs Endothelial Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Quantitative PCR using all three probes demonstrated that TCF4 mRNA is significantly upregulated in the corneal endothelium of patients with FECD, regardless of the presence of TNR expansion.
|
30811544 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
The association of TNR expansion in TCF4 with FECD is shown for the first time in the Thai population.
|
31554942 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Amplification-free long-read sequencing of TCF4 expanded trinucleotide repeats in Fuchs Endothelial Corneal Dystrophy.
|
31276570 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Seventy percent of FECD cases are due to an intronic CTG expansion within the TCF4 gene, resulting in accumulation of CUG repeat RNA nuclear foci in corneal endothelium.
|
31560764 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
CRISPR/Cas9-targeted enrichment and long-read sequencing of the Fuchs endothelial corneal dystrophy-associated TCF4 triplet repeat.
|
30733599 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We confirmed that rs613872 in the TCF4 gene is strongly and statistically associated with late-onset FECD in a Greek population.
|
31028223 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The TCF4 SNP rs613872 genotype was TT: 39 (67%), TG: 18 (31%), and GG: 1 (2%) in non-FECD controls; TT: 39 (47%), TG: 38 (46%), and GG: 6 (7%) in FECD cases harboring TNR <50; and TT: 23 (8%), TG: 224 (79%), and GG: 38 (13%) in FECD cases harboring TNR >50 (P = 2.93 × 10).
|
30973406 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Most cases of FECD are associated with an expanded CUG repeat within the intronic region of TCF4 and the mutant RNA has been implicated as the cause of the disease.
|
30676271 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of novel splicing patterns and differential gene expression in RE+/FECD- samples provides new insights and more relevant gene targets that may be protective against FECD disease in vulnerable patients with TCF4 CTG TNR expansions.
|
31469403 |
2019 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of single nucleotide polymorphisms (SNPs) and CTG trinucleotide repeat expansions in the intron of TCF4 gene to FECD has been studied across multiple ethnicities.
|
29799290 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Considering a 75% prevalence of TCF4 TNR expansion in FECD, the probability of four FECD probands lacking TNR expansion was 0.4%.
|
30025114 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
An antipeptide antibody raised against the C-terminus of the TCF4 poly-cysteine frame recognized RAN translation products by IF in cells transfected with CTG·CAG repeats and in FECD corneal endothelium.
|
29677349 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Alternative splice isoforms of TCF4, a gene implicated in Fuchs corneal dystrophy, have been identified in multiple human tissues outside of the eye.
|
29677003 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Expansion (≥50 copies) of a non-coding trinucleotide repeat in TCF4 confers >76-fold risk for FECD in our large cohort of affected individuals.
|
29526280 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Intergenerational instability of TCF4 repeat expansion has implications on FECD disease inheritance.
|
30098193 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
FECD has the potential to be a model for treating many trinucleotide repeat diseases and targeting the TCF4 expansion with ASOs represents a promising therapeutic strategy to prevent and treat FECD.
|
29325021 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
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).
|
30267097 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Expansion of a CTG trinucleotide repeat in the third intron of the transcription factor 4 (TCF4) gene is highly associated with FECD.
|
29966009 |
2018 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy.
|
29196769 |
2017 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We genotyped TCF4 and DMPK repeat polymorphisms in a FECD cohort of 317 probands using short-tandem repeat and triplet repeat-primed PCR assays.
|
28886202 |
2017 |
Fuchs Endothelial Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
The CTG18.1 repeat expansion may reduce gene expression of TCF4 and ZEB1, suggesting that a mechanism triggering a loss of function may contribute to FECD.
|
28608272 |
2017 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A CTG18.1 trinucleotide repeat in TCF4 correlates with increased severity in Fuchs dystrophy; however, quantitative estimates of increased transplantation risk, including effects of age and sex, are unclear.
|
27755191 |
2017 |
Fuchs Endothelial Dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Trinucleotide Repeat Expansion in the Transcription Factor 4 (TCF4) Gene Leads to Widespread mRNA Splicing Changes in Fuchs' Endothelial Corneal Dystrophy.
|
28118661 |
2017 |
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We found significant association between the expanded TGC repeat (≥ 40 repeats) in TCF4 and advanced FECD (P = 2.58 × 10-22; OR = 15.66 (95% CI: 7.79-31.49)).
|
28832669 |
2017 |
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Analysis of SLC4A11, ZEB1, LOXHD1, COL8A2 and TCF4 gene sequences in a multi-generational family with late-onset Fuchs corneal dystrophy.
|
27121161 |
2016 |