Granular Dystrophy, Corneal
|
0.200 |
Biomarker
|
disease |
HPO |
|
|
|
Granular Dystrophy, Corneal
|
0.200 |
Biomarker
|
disease |
BEFREE |
Assignment of granular corneal dystrophy Groenouw type I (CDGG1) to chromosome 5q.
|
8044658 |
1994 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We determined that the severe phenotype of granular corneal dystrophy is caused by homozygous mutations in the kerato-epithelin gene.
|
9727509 |
1998 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The classic form of granular corneal dystrophy associated with R555W mutation in the BIGH3 gene is rare in Japanese patients.
|
9744382 |
1998 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy.
|
9930165 |
1999 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Heterogeneity in granular corneal dystrophy: identification of three causative mutations in the TGFBI (BIGH3) gene-lessons for corneal amyloidogenesis.
|
10425035 |
1999 |
Granular Dystrophy, Corneal
|
0.200 |
Biomarker
|
disease |
BEFREE |
Recently RBCD, together with lattice corneal dystrophy type I (LCDI), granular corneal dystrophy (CDGG1) and Avellino stromal dystrophy (ASD), all mapped on 5q31, were found to be associated to four different mutations in the beta ig-h3 gene which codify for kerato-epithelin.
|
10660331 |
1998 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study was undertaken to identify beta ig-h3 gene mutations in Japanese patients with granular corneal dystrophy (GCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), and Reis-Bücklers' corneal dystrophy (RBCD).
|
10832717 |
2000 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To characterize the molecular defect in the TGFBI gene in a French family affected with an atypical granular corneal dystrophy.
|
10865320 |
2000 |
Granular Dystrophy, Corneal
|
0.200 |
Biomarker
|
disease |
BEFREE |
To investigate mutations of the human transforming growth factor beta-induced gene (TGFBI), transforming growth factor-beta-induced gene product (betaig-h3, keratoepithelin), in Japanese patients with Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), granular corneal dystrophy (GCD), and Reis-Bücklers corneal dystrophy (RBCD).
|
11095060 |
2000 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) producing R555W mutation, which is a hot spot for granular corneal dystrophy.
|
11189007 |
2001 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
|
12709742 |
2003 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In this report, we identify the genetic defect on the TGFBI gene in a Vietnamese family with atypical GCD .
|
12782158 |
2003 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy.
|
14576527 |
2003 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R.
|
15377440 |
2004 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To identify mutations in the TGFBI gene in Indian patients with lattice corneal dystrophy (LCD) or granular corneal dystrophy (GCD) and to look for genotype-phenotype correlations.
|
15623763 |
2005 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
These results strongly suggest that the allelic homogeneity of TGFBI associated corneal dystrophies (ACD, lattice corneal dystrophy types I and III, granular corneal dystrophy and Reis-Bucklers dystrophy) might not be caused by mutation hot spots but by the founder effects.
|
17096061 |
2007 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In earlier stages, BIGH3 mutation analysis may help to distinguish ACD from GCD, particularly in young patients.
|
18465714 |
2008 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation.
|
19933198 |
2010 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To identify clinical features and mutations within the transforming growth factor-beta-induced (TGFBI) gene in three Chinese families with Granular corneal dystrophy, type 1 (GCD1) and Granular corneal dystrophy, type 2 (GCD2).
|
21311742 |
2011 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Different types of granular corneal dystrophy (GCD) and lattice corneal dystrophy (LCD) are associated with mutations in the transforming growth factor beta induced gene (TGFBI).
|
22155582 |
2012 |
Granular Dystrophy, Corneal
|
0.200 |
Biomarker
|
disease |
BEFREE |
A unique TGFBI protein in granular corneal dystrophy types 1 and 2.
|
22746317 |
2012 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/βig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain.
|
24129074 |
2013 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study expands on our previous research investigating dystrophic stromal aggregates, with the aim of better elucidating the pathomechanism of two conditions arising from the most common TGFBI mutations: granular corneal dystrophy type 1 (GCD1; R555W) and lattice corneal dystrophy type 1 (LCD1; R124C).
|
26207300 |
2015 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
|
28060069 |
2017 |