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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |