|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
UNIPROT |
|
|
|
|
Avellino corneal dystrophy
|
0.800 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
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 |
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 |
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 |
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 |
A novel variant of combined granular-lattice corneal dystrophy associated with the Met619Lys mutation in the TGFBI gene.
|
18332318 |
2008 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A potential strategy for preventing cytoplasmic accumulation of mutant-TGFBIp in GCD2 corneal fibroblasts is to enhance mutant-TGFBIp degradation.
|
26386150 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An additional feature of nonhyaline, nonamyloid, TGFBIp subepithelial deposits might substantiate the categorization of such cases as a variant form of ACD.
|
20697279 |
2010 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
Another heterozygous mutation G>A (R124H) was found in exon 4 of TGFBI in affected members of family B and C with GCD2.
|
21311742 |
2011 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.
|
26197481 |
2015 |
|
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 |
Genetic examination identified that two ACD subjects were associated with homozygous R124H mutation of TGFBI, and four LCD I subjects were all associated with R124C heterozygous mutation.
|
21887843 |
2011 |
|
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 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Granular corneal dystrophy with homozygous mutations in the kerato-epithelin gene.
|
9727509 |
1998 |
|
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 |
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 |
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 |
In our study, thirty patients from five pedigrees and ten sporadic patients were diagnosed as four TGFBI gene-linked corneal dystrophies of granular corneal dystrophy type I (GGCD I), Avellino corneal dystrophy (ACD), lattice corneal dystrophy type I (LCD I), and lattice corneal dystrophy type IIIA (LCD IIIA), and in total, seven disease-causing mutations, namely R555W, A546D, A546T, and T538P mutations in exon 12, R124H and R124C mutations in exon 4, and P501T mutation in exon 11, were identified, while four polymorphisms of V327V, L472L, F540F, and 1665-1666insC were screened in exons 8, 11, and 12.
|
21462384 |
2011 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Inhibitory Effect of Tranilast on Transforming Growth Factor-Beta-Induced Protein in Granular Corneal Dystrophy Type 2 Corneal Fibroblasts.
|
26020822 |
2015 |
|
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 |
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 |