|
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 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
|
22906289 |
2012 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy.
|
21899585 |
2012 |
|
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 |
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 |
|
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 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Primary culture corneal fibroblasts were isolated from the corneas of healthy subjects and patients with granular corneal dystrophy type 2 (GCD2) with a homozygous mutation in TGFBI R124H.
|
21310903 |
2011 |
|
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 |
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 |
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 |
|
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 |
|
Reis-Bucklers' 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 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
|
20360992 |
2010 |
|
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 |
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 |
An additional feature of nonhyaline, nonamyloid, TGFBIp subepithelial deposits might substantiate the categorization of such cases as a variant form of ACD.
|
20697279 |
2010 |
|
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 |
|
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 |
Reduced penetrance in familial Avellino corneal dystrophy associated with TGFBI mutations.
|
19145249 |
2009 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
We also find that the periostin-TGFBI interaction is disrupted in corneal fibroblasts cultured from granular corneal dystrophy type II patients and that periostin accumulates in TGFBI-positive corneal deposits in granular corneal dystrophy type II (also known as Avellino corneal dystrophy).
|
19478074 |
2009 |