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rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
The heterozygous c.370C > T (p.R124C) mutation was found in exon 4 of the <i>TGFBI</i> gene in 11 patients from the family with LCDI.
|
30805211 |
2019 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
We observed a novel LCD family which carried two pathogenic mutations (R124C and A546D) in the TGFBI gene.
|
28393022 |
2017 |
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rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
This study expands on our previous research investigating dystrophic stromal aggregates, with the aim of better elucidating the pathomechanism of two conditions arising from the most common TGFBI mutations: granular corneal dystrophy type 1 (GCD1; R555W) and lattice corneal dystrophy type 1 (LCD1; R124C).
|
26207300 |
2015 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
We have identified a lead siRNA specific to the TGFBI-Arg124Cys mutant allele associated with LCDI.
|
24425855 |
2014 |
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rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Spontaneous mutations were detected in 2 families: an R124C mutation in 1 family with lattice corneal dystrophy (LCD) type I and an A546D mutation in the other with atypical LCD.
|
22355247 |
2012 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
The R124C mutation of the TGFBI gene gives rise to lattice corneal dystrophy type I, which is characterized by irregularity, turbulence, and opacity of the corneal epithelium.
|
22080335 |
2012 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
The fact that the 43-kDa protein fragment was present primarily in R124C and R124H but not in WT implicates its potential role in the protein deposits of LCD.
|
21948648 |
2011 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Different phenotypes of lattice corneal dystrophy type I in patients with 417C>T (R124C) and 1762A>G (H572R) mutations in TGFBI (BIGH3).
|
20806046 |
2010 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
The novel mutations c.(1702G>C and 1706T>A; p.Arg514Pro and Phe515Leu), c. 531C>T (p. Arg124Cys), c.1876A>G (p.His572Arg) in TGFBI were responsible for LCD in the 3 families.
|
20161820 |
2010 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Within this pedigree, RBCD segregates with the R124C variance, which is a known mutation for lattice corneal dystrophy type I.
|
20360992 |
2010 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
An R124C mutation in TGFBI caused lattice corneal dystrophy type I with a variable phenotype in three Chinese families.
|
18615206 |
2008 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Genomic DNA was extracted from peripheral leukocytes from six affected and three unaffected members of a family with lattice corneal dystrophy type I. Exon 4 of the transforming growth factor-induced gene (TGFBI) was screened for the most frequent mutation, R124C, in the proband by sequencing.
|
18470323 |
2008 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
We identified two TGFBI mutations: R124C (exon 4), which segregated with lattice type I corneal dystrophy, and R555W (exon 12), which segregated granular type I corneal dystrophy.
|
17768377 |
2007 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Mutation analysis showed the classical Arg124Cys mutation in exon 4 of TGFBI/BIGH3, associated with LCDI.
|
16710170 |
2006 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Although a slit-lamp examination showed features of LCDI in most cases, the age at onset of the symptoms was several years later than that in cases of LCDI with an R124C mutation.
|
15838722 |
2005 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Arg124Cys and Arg555Trp appear to be the predominant mutations causing LCD and GCD, respectively, in the population studied.
|
15623763 |
2005 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Two mutations in the TGFBI gene (A546D and P551Q) cosegregated with LCD in an extensively studied family that lacked the R124C mutation that frequently accompanies this form of corneal amyloidosis.
|
15111592 |
2004 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
R124C and H626R mutations of TGFBI gene caused LCD in Vietnamese people.
|
12770961 |
2003 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
In exon 4, an R124H mutation associated with Avellino corneal dystrophy (ACD) was found in 39/44 families (86.4%) and an R124C mutation associated with lattice corneal dystrophy type 1 (LCD1) was detected in 2/44 families (4.5%).
|
12225829 |
2002 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
To report a Japanese family diagnosed clinically as having lattice corneal dystrophy type I (LCDI) in which a Leu518Pro mutation in the betaig-h3 gene and not the R124C mutation reported previously was found.
|
10837380 |
2000 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
A R124C mutation was detected in the patients with LCD type 1 (LCD1), L518P was in atypical LCDI, and L527R in LCD with opacities deep in stroma.
|
11095060 |
2000 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
The incidence of mutations was ranked as follows: 118 patients (72%), the R124H mutation associated with Avellino corneal dystrophy; 23 patients (14%), the R124C mutation associated with lattice corneal dystrophy type 1; and 10 patients (6%), the P501T mutation associated with lattice corneal dystrophy type 3A.
|
11024425 |
2000 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Six patients with Avellino corneal dystrophy (ACD) associated with R124H, one patient with superficial granular corneal dystrophy (SGCD) associated with R124L, and seven patients with lattice corneal dystrophy type 1 (CDL1) associated with R124C were examined.
|
11262611 |
2000 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
Arg124Cys mutation of the betaig-h3 bene in a Japanese family with lattice corneal dystrophy type I.
|
9886734 |
1999 |
|
rs121909210
|
|
Lattice corneal dystrophy Type I
|
|
0.900 |
GeneticVariation
|
BEFREE |
The novel mutation, R124S, is at the identical position to the mutation causing LCD type I (CDL1).
|
10425035 |
1999 |