Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Investigated were samples of a normal tissue and a tissue with Fuchs' endothelial dystrophy (FECD, cornea Guttata).
|
30481279 |
2018 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
While the early onset, and rarer, form of FECD has been linked to COL8A2 mutations, the more common, late onset form of FECD has genetic mutations linked to only a minority of cases.
|
28384203 |
2017 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Biosynthetic and functional defects in newly identified SLC4A11 mutants and absence of COL8A2 mutations in Fuchs endothelial corneal dystrophy.
|
25007886 |
2014 |
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
MGD |
The Col8a2(L450W/L450W) and Col8a2(Q455K/Q455K) mouse models of FECD showed distinct endothelial cell phenotypes.
|
23422828 |
2013 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The coding regions of known FECD susceptibility genes collagen, type VIII, alpha 2 (COL8A2); solute carrier family 4, sodium borate transporter, member 11 (SLC4A11); and zinc finger E-box binding homeobox 1 (ZEB1 [also known as TCF8]) were Sanger sequenced in the 47 probands using DNA isolated from blood samples.
|
24348007 |
2013 |
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
However, linkage, association and familial segregation analyses support a role of only one gene in each corneal endothelial dystrophy: ZEB1 in PPCD3, SLC4A11 in CHED2 and COL8A2 in FECD (early onset).
|
23662738 |
2013 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The present study used a transgenic Col8a2(Q455K/Q455K) knock-in mouse model of early-onset FECD to identify the endothelial expression profile of specific cellular stress response-related targets, which may be relevant to late-onset FECD.
|
22956607 |
2012 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To understand the relationship between FECD and central corneal thickness (CCT), we characterized common genetic variation in COL8A2 and TCF4, genes previously implicated in CCT and/or FECD.
|
23110055 |
2012 |
Fuchs Endothelial Dystrophy
|
0.600 |
Biomarker
|
disease |
MGD |
This study confirms the Q455K substitution in the COL8A2 gene as being sufficient to cause FECD in the first mouse model of this disease and supports the role of the UPR and UPR-associated apoptosis in the pathogenesis of FECD caused by COL8A2 mutations.
|
22002996 |
2012 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
This is the first study analysing COL8A2 gene in Indian patients with FECD.
|
20144242 |
2010 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
|
18464802 |
2009 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To perform a genome-wide linkage screen with a single-nucleotide polymorphism (SNP) linkage panel to identify regions of genetic linkage in Fuchs endothelial corneal dystrophy (FECD) and to analyze affected individuals for mutations in the COL8A2 gene.
|
18502986 |
2009 |
Fuchs Endothelial Dystrophy
|
0.600 |
GermlineCausalMutation
|
disease |
ORPHANET |
Q455V mutation in COL8A2 is associated with Fuchs' corneal dystrophy in Korean patients.
|
18464802 |
2009 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The absence of pathogenic mutations identified in the COL8A1 or COL8A2 genes in affected members of 15 pedigrees with familial FECD indicates that other genetic factors are involved in the development of this autosomal dominant corneal dystrophy.
|
16936088 |
2006 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Inheritance of a novel COL8A2 mutation defines a distinct early-onset subtype of fuchs corneal dystrophy.
|
15914606 |
2005 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
To characterize histologically Descemet's membrane in an early-onset Fuchs corneal dystrophy (FCD) COL8A2 mutant and compare these findings with corneas from late-onset FCD and normal corneas.
|
16303941 |
2005 |
Fuchs Endothelial Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
The R155Q and T502M mutations of COL8A2 may not be the causative defect in the Japanese FECD and PPMD patients examined in this study.
|
15175909 |
2004 |