|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
The results suggested that the heterozygous <i>TGFBI</i> c.1663C > T (p.Arg555Trp) mutation was responsible for GCD1 in the Hui-Chinese family, which should be of great help in genetic counseling for this family.
|
30915236 |
2019 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
The Arg555Trp and Thr538Pro mutations known to be associated with corneal dystrophy granular type I and lattice corneal dystrophy, respectively, were introduced with the two-sequential PCR site-directed mutagenesis technique.
|
22605926 |
2012 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
The phenotype which resulted from the TGFBI R555W mutation in this family is distinct from that observed in the typical case of CDGG1.
|
21264234 |
2011 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
A R555W heterozygous mutation was detected in five patients with granular Groenouw type I corneal dystrophy and a R555Q heterozygous mutation was found in four patients clinically diagnosed with Reis-Bücklers (one patient) and Thiel-Behnke (three patients) dystrophy.
|
17982422 |
2007 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
GeneticVariation
|
UNIPROT |
TGFBI gene mutations causing lattice and granular corneal dystrophies in Indian patients.
|
15623763 |
2005 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
GeneticVariation
|
BEFREE |
Segregation of Arg555Trp has been described as causing Groenouw type I corneal dystrophy of variable severity in patients of various ethnic backgrounds.
|
11820303 |
2002 |
|
Groenouw corneal dystrophy type I (disorder)
|
|
0.850 |
CausalMutation
|
CLINVAR |
|
|
|
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
|
28060069 |
2017 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Among 24 clinical GCD patients, the proportion of R124H, R555Q, R124L, R555W and R124C were 37.5%, 16.7%, 25.0%, 20.8% and 0%, respectively, and 2 patients had been diagnosed with GCD according to the opacities thriving after LASIK (R124H) and PRK (R555W).
|
28377594 |
2017 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
|
26207300 |
2015 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
We show here that the Arg555Trp mutant of the fourth fasciclin 1 (FAS1-4) domain of the protein (TGFBIp/keratoepithelin/βig-h3), associated with granular corneal dystrophy type 1, is significantly less susceptible to proteolysis by thermolysin and trypsin than the WT domain.
|
24129074 |
2013 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1.
|
22355247 |
2012 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
A recurrent pathogenic R555W of TGFbetaI gene mutation is identified, which appears to be the predominant mutations causing GCD in different populations.
|
19951597 |
2009 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy.
|
15564760 |
2005 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Five individuals in family A were found by clinical evaluation to be affected with granular corneal dystrophy and carried the BIGH3 mutation W555R.
|
15377440 |
2004 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
To report the appearance of an unusual vortex pattern of corneal deposits in two patients with the R555W mutation in the transforming growth factor beta-induced gene (TGFB1) associated with granular corneal dystrophy.
|
14576527 |
2003 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
|
12709742 |
2003 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.
|
11820303 |
2002 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
In exon 12, an R555W mutation associated with granular corneal dystrophy (GCD) was detected in 4/44 families (9.1%).
|
12225829 |
2002 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Performing BIGH3 gene analysis, we observed a C-to-T transition at position 1710 (CGG to TGG) producing R555W mutation, which is a hot spot for granular corneal dystrophy.
|
11189007 |
2001 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Records of patients carrying this mutation were compared with those from three unrelated patients with corneal dystrophy of Bowman's layer (CDB) type 2 (R555Q mutation) and from three unrelated patients with classic corneal granular dystrophy (R555W mutation).
|
10889112 |
2000 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
These results, together with our previous findings, show that the classic form of granular corneal dystrophy associated with the R555W mutation is rare in Japanese patients, whereas granular corneal dystrophy accompanied by amyloid deposits and associated with the R124H mutation, Avellino corneal dystrophy, is more common.
|
9744382 |
1998 |
|
Granular Dystrophy, Corneal
|
|
0.100 |
GeneticVariation
|
BEFREE |
The three severely affected family members exhibited homozygous mutations at codon 555 (arginine to tryptophan) in the keratoepithelin gene, whereas those with typical granular corneal dystrophy had the heterozygous mutation at the same codon.
|
9727509 |
1998 |