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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
Vortex Pattern of Corneal Deposits in Granular Corneal Dystrophy Associated With the p.(Arg555Trp) Mutation in TGFBI.
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28060069 |
2017 |
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rs121909208
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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).
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28377594 |
2017 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
The family with the R124H mutation was diagnosed with granular corneal dystrophy type 2.
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28358433 |
2017 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
R124H mutation is the most prominent mutation type among GCD outpatients in Eastern China.
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28377594 |
2017 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
To correct genetic defects in GCD patient cells, we designed a disease-specific guide RNA (gRNA) targeting the R124H mutation of TGFBI, which causes GCD type 2 (GCD2).
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29196743 |
2017 |
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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
Protein Composition of TGFBI-R124C- and TGFBI-R555W-Associated Aggregates Suggests Multiple Mechanisms Leading to Lattice and Granular Corneal Dystrophy.
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26207300 |
2015 |
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rs121909208
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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.
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24129074 |
2013 |
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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1.
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22355247 |
2012 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
Typical corneal non-amyloid deposits from GCD type 2 (R124H), amyloid from a variant of LCD type 1 (V624M) and disease-free tissue controls were procured by laser capture microdissection and analyzed by tandem mass spectrometry.
|
22155582 |
2012 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1.
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22355247 |
2012 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
PCFs were isolated from the corneas of normal subjects and GCD II patients who were heterozygous and homozygous for the TGFBI R124H mutation.
|
19933198 |
2010 |
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rs121909208
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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 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
We identified the following mutations: lattice corneal dystrophy--R124C and A546T; Reis-Bücklers corneal dystrophy--R555Q and R124L; granular corneal dystrophy--R555W and Avellino dystrophy--R555W.
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16440005 |
2007 |
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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy.
|
15564760 |
2005 |
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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
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rs121909211
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0.100 |
GeneticVariation |
BEFREE |
In GCD, 18 patients with GCD type I had a mutation of arginine 555-to-tryptophan (Arg555Trp) and 1 patient with GCD type III (Reis-Bucklers dystrophy), had the Arg124Leu mutation.
|
15623763 |
2005 |
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rs121909208
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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 |
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rs121909208
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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 |
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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
|
12709742 |
2003 |
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rs121909208
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0.100 |
GeneticVariation |
BEFREE |
The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.
|
11820303 |
2002 |
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rs121909208
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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 |
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rs121909208
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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 |
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rs121909208
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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 |
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rs121909208
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|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
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rs121909211
|
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|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |