|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the transforming growth factor beta I (TGFBI) gene cause several types of autosomal-dominant corneal dystrophies.
|
19951597 |
2009 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
To evaluate mutations in the transforming-growth-factor-beta-induced (TGFBI) gene in patients of Czech origin with autosomal dominant corneal dystrophies.
|
18259096 |
2008 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A corneal dystrophy associated with transforming growth factor beta-induced Gly623Asp mutation an amyloidogenic phenotype.
|
19019446 |
2009 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Codons R124 and R555 of the BIGH3 gene represent mutational hotspots in the genomes of Japanese patients with autosomal-dominant CD.
|
12225829 |
2002 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
Transforming growth factor beta-induced (TGFBI)-related dystrophies constitute the most common heritable forms of corneal dystrophy worldwide.
|
26207300 |
2015 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
The three individuals initially diagnosed with inherited corneal dystrophy were negative for TGFBI mutations by direct sequencing.
|
31044553 |
2019 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
In our patients of British origin, each phenotype of CD has been linked to a particular point mutation of the BIGH3 gene.
|
16118514 |
2005 |
|
Corneal dystrophy
|
0.200 |
GeneticVariation
|
disease |
BEFREE |
A novel phenotype-genotype relationship with a TGFBI exon 14 mutation in a pedigree with a unique corneal dystrophy of Bowman's layer.
|
18728790 |
2008 |