|
Fuchs Endothelial Dystrophy
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, we find that miR-199b-5p directly and negatively regulates Snai1 and ZEB1, two zinc finger transcription factors that lead to increased ECM deposition in FECD.
|
31705138 |
2019 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Here, we report the contribution of ZEB1 and LOXHD1 genes in our sporadic late-onset FECD cohort.
|
29799290 |
2018 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
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
|
0.600 |
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
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
These findings suggest that increased expression levels of ZEB1 and Snail1 in FECD cells were responsible for an increased responsiveness to TGF-β present in the aqueous humor and excessive production of ECM.
|
26302187 |
2015 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Conversely, as the reported ZEB1 missense mutations do not significantly impact protein abundance or nuclear localization, the effect of these mutations on ZEB1 function and their relationship to FECD, if any, remain to be elucidated.
|
25190660 |
2014 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Variation in the COL8A2, SLC4A11, and ZEB1 genes is present in only a small fraction of our African American cases and as such does not appear to significantly contribute to the genetic risk of FECD in African Americans.
|
24348007 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Mutations in several genes have been implicated as playing a pathogenic role in the corneal endothelial dystrophies: VSX1 mutations in PPCD1; COL8A2 mutations in PPCD2 and FECD; ZEB1 mutations in PPCD3 and FECD; and SLC4A11 mutations in CHED2 and FECD.
|
23662738 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
In the keratoconus cohort, a novel heterozygous pathogenic mutation in exon 7 (c.1920G > T; p.Gln640His) of ZEB1 was identified in a family affected with keratoconus and Fuchs' endothelial corneal dystrophy.
|
23599324 |
2013 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
|
20036349 |
2010 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
|
20036349 |
2010 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
|
20036349 |
2010 |
|
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The identification of a novel missense mutation in only one of the patients implied that TCF8 does not play a significant role in the pathogenesis of FECD in this Chinese population.
|
18172091 |
2008 |