|
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 |
Association of TCF4 polymorphisms and Fuchs' endothelial dystrophy: a meta-analysis.
|
26087656 |
2015 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of genetic variations in ZEB1 and TCF4 SNP rs613872 in patients with FECD from northern India that suggests a possible role in disease pathogenesis and the regulation of endothelial cell density.
|
26622166 |
2015 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Transethnic replication of the association between the CTG18.1 repeat expansion in the TCF4 gene and FECD suggests it is a common, causal variant shared in Eurasian populations conferring significant risk for the development of FECD.
|
25298419 |
2014 |
|
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 |
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 |
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 |
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 |
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 |
The purpose of this study was to examine FECD endothelial samples for the presence of RNA nuclear foci, the hallmark of toxic RNA, as well as evidence of haploinsufficiency of TCF4.
|
25722209 |
2015 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GermlineCausalMutation
|
disease |
ORPHANET |
We tested for an association between an intronic TGC trinucleotide repeat in TCF4 and FECD by determining repeat length in 66 affected participants with severe FECD and 63 participants with normal corneas in a 3-stage discovery/replication/validation study.
|
23185296 |
2012 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
We performed comprehensive sequencing of the TCF4 gene region in order to identify the best marker for FECD within TCF4 and to identify other novel variants that may be associated with FECD.
|
25168903 |
2014 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in AGBL1 cause dominant late-onset Fuchs corneal dystrophy and alter protein-protein interaction with TCF4.
|
24094747 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To identify early features of Fuchs endothelial dystrophy (FED) in carriers of the rs613872(G) transcription factor 4 gene (TCF4) aged 20 to 21 years.
|
22146553 |
2012 |
|
Fuchs Endothelial Dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Prior reports have shown that SNP rs613872 in the TCF4 gene is highly associated with FECD.
|
22998502 |
2013 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Replication of the TCF4 intronic variant in late-onset Fuchs corneal dystrophy and evidence of independence from the FCD2 locus.
|
21245398 |
2011 |
|
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 |
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 |
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 |
These findings show for the first time in a Japanese population the association of the TNR expansion in TCF4 with FECD.
|
26218914 |
2015 |
|
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 |