|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This mutation in the TGFBI gene may induce different phenotypes of corneal dystrophy.
|
19433713 |
2009 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study was designed to describe the clinical, histologic, and ultrastructural features of the corneal dystrophy associated with the R124L mutation of the BIGH3 gene.
|
10889112 |
2000 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Six different mutations of TGFBI (betaig-h3, keratoepithelin) gene found in Japanese corneal dystrophies.
|
11095060 |
2000 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Seven lattice CD patients from four unrelated families had an identical p.H626R mutation in TGFBI, three patients from a single lattice CD family carried a p.R124C substitution in TGFBI, and a granular type 2 CD pedigree was demonstrated to carry a heterozygous TGFBI p.M619K substitution.
|
24801599 |
2014 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
TGFBI gene mutations in Brazilian patients with corneal dystrophy.
|
16440005 |
2007 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
The variable genotypes in patients with TGFBI-linked corneal dystrophies lead to significantly different results after surgical treatment.
|
18777038 |
2009 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Molecular genetic analysis of TGFBI can offer a rapid, accurate diagnosis of patients with atypical corneal dystrophies.
|
18615206 |
2008 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Analysis of TGFBI gene mutations in Chinese patients with corneal dystrophies and review of the literature.
|
20664689 |
2010 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
We report a novel corneal dystrophy phenotype secondary to the Gly623Asp mutation in the TGFBI gene that is associated with clinical features of both lattice corneal dystrophy and a Bowman's layer dystrophy.
|
15885785 |
2005 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Many reports showed that even though the causative mutation is the same TGFBI R124H mutation, there are severe and mild phenotypes of the corneal dystrophy.
|
21628991 |
2011 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
The two identified novel mutations add other two phenotypes in patients suffering from TGFBI-linked CD to those reported so far.
|
26961680 |
2016 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
R124C and R555W TGFBI mutations cause lattice and granular type I corneal dystrophies in the studied families.
|
17768377 |
2007 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
This work suggests that apoptosis is a key element in the pathophysiology of BIGH3-related corneal dystrophies.
|
12824240 |
2003 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To report the clinical, molecular, and histopathological features of a distinct transforming growth factor-beta-induced (TGFBI) gene-linked amyloidotic corneal dystrophy exhibiting an unusual lattice pattern.
|
17893671 |
2007 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations of the betaig-h3 gene are involved in several corneal dystrophies.
|
12379307 |
2002 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
In addition, the phenotype observed in this BIGH3 transgenic mouse model was similar to CD.
|
24009044 |
2013 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
BIGH3 mutation spectrum in corneal dystrophies.
|
11923233 |
2002 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
More than 60 mutations in transforming growth factor beta-induced protein (TGFBIp) have been reported in humans causing a variety of phenotypic protein aggregates in the cornea, commonly termed corneal dystrophies.
|
26864644 |
2016 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Our studies on candidate genes of eye diseases in the Chinese population in Hong Kong include MYOC and TISR for primary open angle glaucoma, RHO and RP1 for retinitis pigmentosa, ABCA4 and APOE for age-related macular degeneration, RB1 for retinoblastoma, APC for familial adenomatous polyposis with congenital hypertrophy of retinal pigment epithelium, BIGH3/TGFBI for corneal dystrophies, PAX6 for aniridia and Reiger syndrome, CRYAA and CRYBB2 for cataracts, and mtDNA for Leber hereditary optic neuropathy.
|
11857735 |
2002 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The p. Arg555Trp mutation of the TGFBI gene was associated with TBCD, which revealed a novel phenotype-genotype correlation within the mutational spectrum of phenotypically diverse corneal dystrophies.
|
26464103 |
2015 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The purpose of this study was to analyse TGFBI gene variants and genotype-phenotype correlations in a cohort affected by atypical stromal CD.
|
31056827 |
2019 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Sixty-six patients from 64 families with TGFBI-associated CD were studied.
|
15744520 |
2005 |
|
Corneal dystrophy
|
0.200 |
Biomarker
|
disease |
BEFREE |
Other candidate genes with a role to play include SOD1, other corneal dystrophy genes such as ZEB1 and TGFBI and collagen genes.
|
23387289 |
2013 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
This study provides epidemiological insight into CDs in a Korean population and reaffirms that GCD2 is the most common TGFBI CD phenotype and that p.R124H is the only mutation identified in patients with GCD2.
|
25932442 |
2015 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The corneal dystrophy-associated R124H mutation in TGFBI severely impairs interaction with periostin in vivo.
|
19478074 |
2009 |