Granular Dystrophy, Corneal
|
0.200 |
AlteredExpression
|
disease |
BEFREE |
Levels of TGFBI and LC3 were significantly increased in GCD patients.
|
29679546 |
2018 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2).
|
29196743 |
2017 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study investigated the TGFBI gene mutation types in outpatients clinically diagnosed with granular corneal dystrophy (GCD) prior to phototherapeutic keratectomy (PTK), also calculated the mutation rate of subjects with normal corneas, but positive family history.
|
28377594 |
2017 |
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 |
Granular Dystrophy, Corneal
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
KC can co-exist with GCD.The missense mutation (c.370G > A) in the TGFBI gene and insert mutation (c.1456-1457ins GAT) in the KRT12 gene were identified in a 23-year-old male patient with concurrent KC and GCD.
|
28567551 |
2017 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |