|
rs121909208
|
|
|
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 |
|
rs121909208
|
|
|
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 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The homozygous R124H keratoepithelin mutations are the cause of the severe variant of GCD characterized by juvenile-onset and confluent superficial opacity.
|
9727418 |
1998 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
A novel R124L mutation of the BIGH3 gene was associated in this family with a superficial variant of granular corneal dystrophy.
|
9930165 |
1999 |
|
rs121909208
|
|
|
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 |
|
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Many Japanese patients with CD had ACD with R124H mutation.GCD with R555W mutation was rare.
|
11095060 |
2000 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
In 68 unrelated patients who had been diagnosed with GCD, 62 patients (91%) were found to have the R124H mutation, which has been reported to cause ACD, whereas only six patients (9%) had the R555W mutation.
|
10832717 |
2000 |
|
rs121909211
|
|
|
0.100 |
GeneticVariation |
BEFREE |
All 34 patients with the R124L mutation displayed the clinical, histologic, and electron microscopic features of the dystrophy previously described as a superficial variant of corneal granular dystrophy.
|
10889112 |
2000 |
|
rs121909209
|
|
|
0.010 |
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 |
|
rs121909208
|
|
|
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 |
|
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The phenotype of arg555trp mutation in a large Turkish family with corneal granular dystrophy.
|
11820303 |
2002 |
|
rs121909208
|
|
|
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 |
|
rs121909208
|
|
|
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 |
|
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
An autosomal dominant granular corneal dystrophy family associated with R555W mutation in the BIGH3 gene.
|
12709742 |
2003 |
|
rs541270955
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The detection of the D123H mutation in three unaffected family members indicates that it has low penetrance for GCD.
|
12782158 |
2003 |
|
rs121909208
|
|
|
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 |
|
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The R555W mutation was detected in 6 patients from 4 families with granular corneal dystrophy.
|
15564760 |
2005 |
|
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
rs121909211
|
|
|
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 |
|
rs121909210
|
|
|
0.020 |
GeneticVariation |
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
rs121909211
|
|
|
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.
|
16440005 |
2007 |
|
rs121909208
|
|
|
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 |
|
rs121909211
|
|
|
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 |
|
rs121909208
|
|
|
0.100 |
GeneticVariation |
BEFREE |
The most common mutations in Taiwan were R124H in GCD type 2 and R555W in GCD type 1.
|
22355247 |
2012 |