|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
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 |
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 |
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 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The detailed clinical features of PPCD associated with a novel ZEB1 mutation are supportive of the previously proposed range of phenotype parameters.
|
19432861 |
2010 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Phenotypic characterisation and ZEB1 mutational analysis in posterior polymorphous corneal dystrophy in a New Zealand population.
|
19997581 |
2009 |
|
Polymorphous corneal dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
To investigate the molecular basis of posterior polymorphous corneal dystrophy (PPCD) by examining the PPCD transcriptome and the effect of decreased ZEB1 expression on corneal endothelial cell (CEnC) gene expression.
|
28654985 |
2017 |
|
Polymorphous corneal dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Analysis of the role of ZEB1 in the pathogenesis of posterior polymorphous corneal dystrophy.
|
22199242 |
2012 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Ten of the 38 individuals (26.3%) had average keratometric values greater than 48.0 D OU: 10 of 27 individuals with PPCD (37.0%; 6 of 7 individuals with ZEB1 mutations [85.7%] and 4 of 20 individuals without ZEB1 mutations [20.0%]) and 0 of 11 unaffected individuals (P = .04 for unaffected vs affected individuals; P = .004 for individuals with PPCD with vs without ZEB1 mutation).
|
24113819 |
2013 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To the authors' knowledge, we report the earliest clinical presentation of posterior polymorphous corneal dystrophy resulting from a de novo mutation in ZEB1.
|
26619383 |
2016 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Posterior polymorphous corneal dystrophy (PPCD) is a dominantly inherited disorder of the corneal endothelium that has been associated with mutations in the zinc-finger E-box binding homeobox 1 gene (ZEB1) gene in approximately one-third of affected families.
|
24780443 |
2014 |
|
Polymorphous corneal dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
Sequence variants in 3 genes are associated with the development of PPCD, including ZEB1 that is responsible for PPCD3.
|
23807282 |
2013 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The aim of this study was to identify the molecular genetic cause of disease in posterior polymorphous corneal dystrophy (PPCD) probands of diverse origin and to assess the utility of massively parallel sequencing in the detection of ZEB1 mutations.
|
30851240 |
2019 |
|
Polymorphous corneal dystrophy
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
This study demonstrates that ZEB1 mutations account for a larger proportion of PPCD than previously estimated, and supports the hypothesis that haploinsufficiency of ZEB1 is the underlying molecular mechanism of disease for PPCD3.
|
26508574 |
2016 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel mutations in the ZEB1 gene identified in Czech and British patients with posterior polymorphous corneal dystrophy.
|
17437275 |
2007 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Name of the disease (synonyms) CUGC for posterior polymorphous corneal dystrophy (PPCD).OMIM# of the disease 122000; 609141; 618031.Name of the analysed genes or DNA/chromosome segments OVOL2 (PPCD1); ZEB1 (PPCD3); GRHL2 (PPCD4).OMIM# of the gene(s) 616441; 189909; 608576. Review of the analytical and clinical validity as well as of the clinical utility of DNA-based testing for variants in theOVOL2, ZEB1andGRHL2gene(s) in a diagnostic setting, predictive and parental settings and for risk assesment in relatives.
|
31201376 |
2020 |
|
Polymorphous corneal dystrophy
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Agenesis of the corpus callosum, developmental delay, autism spectrum disorder, facial dysmorphism, and posterior polymorphous corneal dystrophy associated with ZEB1 gene deletion.
|
28742278 |
2017 |
|
Polymorphous corneal dystrophy
|
0.500 |
Biomarker
|
disease |
BEFREE |
As ZEB1 can act as an activator or repressor of downstream target gene expression depending on Wnt signaling pathway activation or deactivation, we also sought to determine whether or not Wnt signaling is active in PPCD by performing immunohistochemistry in corneal tissue sections derived from an individual affected with PPCD3 and from an individual with genetically unresolved PPCD.
|
31233731 |
2019 |