|
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
E2-2 protein and Fuchs's corneal dystrophy.
|
20825314 |
2010 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
TCF4 poses a major contributor to FECD manifestation globally, with a significant association of rs17089887 and CTG18.1 allele in the Indian population.
|
25342617 |
2014 |
|
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 |
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 |
Among the several genes and loci associated with FECD, the strongest association is with an intronic (CTG·CAG)n trinucleotide repeat expansion in the TCF4 gene, which is found in the majority of affected patients.
|
25593321 |
2015 |
|
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 |
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 |
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 |
|
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 |
PosttranslationalModification
|
disease |
BEFREE |
Association and familial segregation of CTG18.1 trinucleotide repeat expansion of TCF4 gene in Fuchs' endothelial corneal dystrophy.
|
24255041 |
2014 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of TCF4 gene polymorphisms with Fuchs' corneal dystrophy in the Chinese.
|
21659310 |
2011 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of TCF4 and CLU polymorphisms with Fuchs' endothelial dystrophy and implication of CLU and TGFBI proteins in the disease process.
|
22234156 |
2012 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
|
26087656 |
2015 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Association of common variants in TCF4 and PTPRG with Fuchs' corneal dystrophy: a systematic review and meta-analysis.
|
25299301 |
2014 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
CTG18.1 Expansion in TCF4 Among African Americans With Fuchs' Corneal Dystrophy.
|
29196769 |
2017 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
GWASCAT |
E2-2 protein and Fuchs's corneal dystrophy.
|
20825314 |
2010 |
|
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 |
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 |
Expansion of CTG18.1 Trinucleotide Repeat in TCF4 Is a Potent Driver of Fuchs' Corneal Dystrophy.
|
26200491 |
2015 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
However, considering the strong association of TCF4 allelic variants with FECD, genotyping of TCF4 risk alleles may be important in the clinical practice.
|
26451375 |
2015 |
|
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 |