|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations of the BIGH3 gene are associated with the most common corneal dystrophies (CDs), such as Avellino corneal dystrophy, Reis-Bucklers corneal dystrophy, and lattice corneal dystrophy.
|
20092310 |
2010 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD.
|
17317389 |
2007 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp).
|
26864644 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Granular corneal dystrophy type II (GCD II) is an autosomal dominant disorder characterized by age-dependent progressive accumulation of transforming growth factor-beta-induced protein (TGFBIp) deposits in the corneal stroma.
|
19497990 |
2009 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Avellino corneal dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
TGFβ1-induced expression of transforming growth factor β-induced protein (TGFBIp) and extracellular matrix (ECM) genes plays a major role in the development of granular corneal dystrophy type 2 (GCD2: also called Avellino corneal dystrophy).
|
26553048 |
2015 |
|
Avellino corneal dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Treatment with 4-PBA considerably reduced the levels of BiP, IRE1α, and XBP1 in GCD2 cells; notably, 4-PBA treatment significantly reduced the levels of TGFBIp without change in TGFBI mRNA levels.
|
27373828 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation.
|
29192679 |
2018 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To identify the types of <i>TGFBI</i> (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis-Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to investigate the relationship between the phenotypes and genotypes of corneal dystrophy.
|
30805211 |
2019 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In Avellino corneal dystrophy (Arg124His mutation of human transforming growth factor beta-induced gene [TGFBI]), highly reflective granular materials with irregular edges were observed in the superficial stroma.
|
17846354 |
2007 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis of the TGFBI gene in Vietnamese with granular and Avellino corneal dystrophy.
|
14767644 |
2004 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The diagnosis of GCD2 was confirmed by transforming growth factor β-induced (TGFBI) gene analysis using direct sequencing in exon 4 of TGFBI gene.
|
25034048 |
2015 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Beta ig-h3 is mutated in lattice corneal dystrophy type I (Arg124Cys) and Avellino corneal dystrophy (Arg124His).
|
9860011 |
1998 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Genotype of lattice corneal dystrophy (R124C mutation in TGFBI) in a patient presenting with features of avellino corneal dystrophy.
|
20458218 |
2010 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In granular corneal dystrophy type 2 (GCD2), corneal deposits containing fragments of transforming growth factor-β-induced protein appear in sequence as granular lesions (GLs), linear lesions (LLs), and diffuse haze (DH).
|
29443809 |
2018 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Granular corneal dystrophy type 2 (GCD2) is an autosomal dominant disease caused by a R124H point mutation in the transforming growth factor-β-induced gene (TGFBI).
|
22374302 |
2012 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
From the results, we conclude that our toehold-mediated, DNA displacement-based, SERS sensor allows a rapid and sensitive detection of a BIGH3 gene point mutation associated with Avellino corneal dystrophy, indicating the practical ability of the method to diagnose genetic diseases caused by point mutations.
|
27934116 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
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 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Avellino corneal dystrophy (ACD) is a common corneal dystrophy that shows allelic homogeneity, R124H mutation in the transforming growth factor beta-induced (TGFBI) gene.
|
17096061 |
2007 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An unusual clinical phenotype of Avellino corneal dystrophy associated with an Arg124His beta iG-H3 mutation in an African-American woman.
|
15059726 |
2004 |
|
Avellino corneal dystrophy
|
0.800 |
GermlineCausalMutation
|
disease |
ORPHANET |
We describe the phenotypic range of GCD2 heterozygotes for the common R124H mutation in TGFBI; seven with an extremely mild phenotype and six with an extremely severe phenotype.
|
22815629 |
2012 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In earlier stages, BIGH3 mutation analysis may help to distinguish ACD from GCD, particularly in young patients.
|
18465714 |
2008 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This is the first report of ACD families in the United Kingdom and, furthermore, of BIGH3 gene mutation in British patients with this rare type of corneal dystrophy.
|
12812879 |
2003 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Transforming growth factor-β (TGF-β)-induced gene (TGFBI) protein (TGFBIp) is associated with granular corneal dystrophy type 2 (GCD2).
|
26915797 |
2016 |