|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations of the BIGH3 gene are associated with the most common corneal dystrophies (CDs), such as Avellino corneal dystrophy, Reis-Bucklers corneal dystrophy, and lattice corneal dystrophy.
|
20092310 |
2010 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This suggests the basic role of this domain in maintaining the proper kerato-epithelin structure which when altered can cause the typical precipitates in the RBCD cornea.
|
10660331 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Two patients from one pedigree (a 29-year-old woman and 58-year-old man) with Thiel-Behnke corneal dystrophy (Arg555Gln [R555Q] heterozygous missense mutation of human transforming growth factor beta-induced [TGFBI] gene) and 3 patients from one pedigree (a 70-year-old woman, 58-year-old man, and 14-year old man) with Reis-Bücklers corneal dystrophy (Arg124Leu [R124L] heterozygous missense mutation of the TGFBI gene) were examined.
|
17198850 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Codon 124 is a hot spot for kerato-epithelin mutations, where the mutations responsible for three autosomal dominant corneal dystrophies--lattice type I (Arg124Cys), Avellino (Arg124His), and the variant of RBCD with geographic rather than honeycomb opacities (Arg124Leu)--are located.
|
9780098 |
1998 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Transforming growth factor beta induced protein accumulation in granular corneal dystrophy type III (Reis-Bücklers dystrophy). Identification by mass spectrometry in 15 year old two-dimensional protein gels.
|
12942051 |
2003 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Therefore, along with G623D and R124L, the R124C mutation in TGFBI is also found to be responsible for RBCD.
|
20360992 |
2010 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
These results strongly suggest that the allelic homogeneity of TGFBI associated corneal dystrophies (ACD, lattice corneal dystrophy types I and III, granular corneal dystrophy and Reis-Bucklers dystrophy) might not be caused by mutation hot spots but by the founder effects.
|
17096061 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
This study was undertaken to identify beta ig-h3 gene mutations in Japanese patients with granular corneal dystrophy (GCD), Avellino corneal dystrophy (ACD), lattice corneal dystrophy (LCD), and Reis-Bücklers' corneal dystrophy (RBCD).
|
10832717 |
2000 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To identify the types of <i>TGFBI</i> (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis-Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to investigate the relationship between the phenotypes and genotypes of corneal dystrophy.
|
30805211 |
2019 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A novel mutation in the BIGH3 gene that causes Reis-Bücklers dystrophy was uncovered through this analysis, and another recently reported novel mutation was encountered.
|
11146721 |
2001 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Clinical diagnoses of CDB1 (RBCD) and CDB2 (TBCD) were made for probands A and B, respectively.
|
17980739 |
2007 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
An atypical phenotype of Reis-Bücklers corneal dystrophy caused by the G623D mutation in TGFBI.
|
18636123 |
2008 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
We conclude that codons R124 and R555 of the TGFBI gene are also hot spots in Japanese patients with ACD, LCD, GCD, and RBCD.
|
11095060 |
2000 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Arg555Gln mutation of TGFBI gene in geographical-type Reis-Bücklers corneal dystrophy in a Chinese family.
|
22906289 |
2012 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
The study reported new histopathological and ultrastructural findings in RBCD caused by the Arg124Leu mutation of transforming growth factor induced (TGFBI) gene in a four-generation Chinese pedigree.
|
27590038 |
2016 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
A p.Arg124Leu mutation of the TGFBI gene was detected in this Chinese pedigree with Reis-Bücklers corneal dystrophy.
|
21899585 |
2012 |
|
Reis-Bucklers' corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
For the three families, a single heterozygous c.371G>T (R124L) point mutation was found in exon 4 of TGFBI in 14 affected members with RBCD, a single heterozygous c.370C>T (R124C) point mutation was found in exon 4 of TGFBI in four affected members with LCDI, and a single heterozygous c.1877A>G (H626R) point mutation was found in exon 14 of TGFBI in four affected members with LCDI/IIIA.
|
27348782 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Point mutations of the BIGH3 gene are associated with the most common corneal dystrophies (CDs), such as Avellino corneal dystrophy, Reis-Bucklers corneal dystrophy, and lattice corneal dystrophy.
|
20092310 |
2010 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
Screening of TGFBI exons 4 and 12 revealed the Arg124His mutation associated with CGLCD.
|
17317389 |
2007 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
LASIK surgery of granular corneal dystrophy type 2 patients leads to accumulation and differential proteolytic processing of transforming growth factor beta-induced protein (TGFBIp).
|
26864644 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
Biomarker
|
disease |
BEFREE |
Granular corneal dystrophy type II (GCD II) is an autosomal dominant disorder characterized by age-dependent progressive accumulation of transforming growth factor-beta-induced protein (TGFBIp) deposits in the corneal stroma.
|
19497990 |
2009 |
|
Avellino corneal dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
TGFβ1-induced expression of transforming growth factor β-induced protein (TGFBIp) and extracellular matrix (ECM) genes plays a major role in the development of granular corneal dystrophy type 2 (GCD2: also called Avellino corneal dystrophy).
|
26553048 |
2015 |
|
Avellino corneal dystrophy
|
0.800 |
AlteredExpression
|
disease |
BEFREE |
Treatment with 4-PBA considerably reduced the levels of BiP, IRE1α, and XBP1 in GCD2 cells; notably, 4-PBA treatment significantly reduced the levels of TGFBIp without change in TGFBI mRNA levels.
|
27373828 |
2016 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
It is our intention to demonstrate that the pre-operative genetic screening for TGFBI mutations should be mandatory for refractive surgery candidates.Patients and MethodsIn this study, we reviewed the proband's post-LASIK slit-lamp and in vivo confocal microscopy images and genetic testing results, and performed genetic testing on eleven additional members of the family to investigate the penetrance of corneal dystrophy in asymptomatic members who carry the mutation.ResultsThe proband demonstrated a post-LASIK exacerbation of Granular Corneal Dystrophy type 2 (GCD2), identified as a TGFBI R124H mutation.
|
29192679 |
2018 |
|
Avellino corneal dystrophy
|
0.800 |
GeneticVariation
|
disease |
BEFREE |
To identify the types of <i>TGFBI</i> (transforming growth factor, beta-induced) gene mutations in three Chinese families with Reis-Bücklers corneal dystrophy (RBCD), lattice corneal dystrophy type I (LCDI), or Avellino corneal dystrophy (ACD) and to investigate the relationship between the phenotypes and genotypes of corneal dystrophy.
|
30805211 |
2019 |