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 |
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 |
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 |
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 |
Lattice corneal dystrophy Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
The TGFBI gene, that is responsible for LCD1, is expressed above all by the corneal epithelial cells but also by the keratocytes.
|
25055147 |
2014 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Molecular genetic analysis confirmed the Pro501Thr mutation in the TGFBI gene previously associated with LCD type IIIA.
|
23884333 |
2013 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium.
|
22080335 |
2012 |
Lattice corneal dystrophy Type I
|
0.800 |
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 |
Lattice corneal dystrophy Type I
|
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 |
Lattice corneal dystrophy Type I
|
0.800 |
Biomarker
|
disease |
BEFREE |
Specific components of transforming growth factor-beta-induced protein (TGFBIp) responsible for amyloid deposits in lattice corneal dystrophy (LCD) have not been delineated.
|
21948648 |
2011 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
As with other corneal dystrophies, this LCD subtype is also caused by a mutation (p. Leu527Arg) of the transforming growth factor, beta-induced (TGFBI) gene.
|
20357204 |
2010 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).
|
20806046 |
2010 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The novel mutations c.(1702G>C and 1706T>A; p.Arg514Pro and Phe515Leu), c. 531C>T (p. Arg124Cys), c.1876A>G (p.His572Arg) in TGFBI were responsible for LCD in the 3 families.
|
20161820 |
2010 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To identify mutations within the TGFBI gene in a Chinese family with lattice corneal dystrophy type I (LCD I).
|
19956413 |
2009 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to report the association of phenotypic features characteristic of lattice corneal dystrophy (LCD) with a monoclonal gammopathy of undetermined significance (MGUS) after exclusion of a coding region mutation in transforming growth factor beta-induced (TGFBI) gene.
|
19092416 |
2009 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
|
18615206 |
2008 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Anticipation in familial lattice corneal dystrophy type I with R124C mutation in the TGFBI (BIGH3) gene.
|
18470323 |
2008 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel Val624Met homozygous mutation in TGFBI was associated with atypical LCD in two family members.
|
18385782 |
2008 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel H572R mutation in the transforming growth factor-beta-induced gene in a Thai family with lattice corneal dystrophy type I.
|
17013691 |
2006 |
Lattice corneal dystrophy Type I
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Mutation analysis showed the classical Arg124Cys mutation in exon 4 of TGFBI/BIGH3, associated with LCDI.
|
16710170 |
2006 |