|
Reis-Bucklers' 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 |
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 |
|
Lattice corneal dystrophy Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Significant TGFBIp aggregates and macrophage infiltration were found only in the corneas of LCD sufferers.
|
30884524 |
2019 |
|
Lattice corneal dystrophy Type I
|
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 |
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 |
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 |
|
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene.
|
28393022 |
2017 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The study reported new histopathological and ultrastructural findings in RBCD caused by the Arg124Leu mutation of transforming growth factor induced (TGFBI) gene in a four-generation Chinese pedigree.
|
27590038 |
2016 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For the three families, a single heterozygous c.371G>T (R124L) point mutation was found in exon 4 of TGFBI in 14 affected members with RBCD, a single heterozygous c.370C>T (R124C) point mutation was found in exon 4 of TGFBI in four affected members with LCDI, and a single heterozygous c.1877A>G (H626R) point mutation was found in exon 14 of TGFBI in four affected members with LCDI/IIIA.
|
27348782 |
2016 |
|
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 |
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 |
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 |
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 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We review our current understanding of the molecular mechanisms of granular corneal dystrophy type 2 (GCD2) and studies of other TGFBI corneal dystrophies.
|
26612778 |
2016 |
|
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 |
|
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, patients with macular corneal dystrophy (MCD; n = 18), granular corneal dystrophy type 1 (GCD1; n = 12), and lattice corneal dystrophy type 1 (LCD1; n = 4), as well as 50 healthy controls, were subjected to clinical and genetic examinations.
|
27829782 |
2016 |
|
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 |
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 |
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 |
Development of a Transgenic Mouse with R124H Human TGFBI Mutation Associated with Granular Corneal Dystrophy Type 2.
|
26197481 |
2015 |
|
Lattice corneal dystrophy Type I
|
0.800 |
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 |
|
Lattice corneal dystrophy Type I
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Silencing of exogenous TGFBI was observed at mRNA and protein levels, and in an ex vivo model of LCDI with an efficient suppression of the endogenous mutant allele.
|
24425855 |
2014 |
|
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The novel variant expands the spectrum of TGFBI mutations causing LCD and located in this region.
|
24473223 |
2014 |
|
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
In this study, we investigated whether the phenotypic difference observed between two lattice corneal dystrophy type 1 (LCD type 1) cases caused by either a single A546D substitution or an A546D/P551Q double substitution in TGFBIp (transforming growth factor beta induced protein) can be ascribed to (i) a difference in the proteomes of corneal amyloid deposits, (ii) altered proteolysis of TGFBIp, or (iii) structural changes of TGFBIp introduced by the P551Q amino acid substitution.
|
24302499 |
2014 |
|
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We present the characteristics and surgical treatment of corneas with a novel A620P mutation in TGFBI showing LCD type IIIA with hyaline component.
|
25321938 |
2014 |