Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
To understand the mechanism of VP1-001, we tested the ability of its enantiomer, ent-VP1-001, to bind and stabilize αB-crystallin (cryAB) in vitro and to produce a similar therapeutic effect in cryAB(R120G) mutant and aged wild-type mice with cataracts.
|
31369034 |
2019 |
Bilateral cataracts (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Clinical characteristics of children with cataracts correlated with growth behavior of pLEC in vitro. mRNA expression of epithelial (αB-crystallin, connexin-43) and mesenchymal (αV-integrin, α-smooth muscle actin, collagen-Iα2, fibronectin-1) markers was quantified in pLEC and in cell line HLE-B3 in the presence and absence of TGFβ-2.
|
30521667 |
2018 |
Bilateral cataracts (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Surgical removal of cataracts is typically incomplete, and we estimate that this disease is associated with alpha-B crystallin (CRYAB) secreted from the retained lens material.
|
29850213 |
2018 |
Bilateral cataracts (disorder)
|
0.100 |
Biomarker
|
disease |
BEFREE |
Genetic mutations in the human small heat shock protein αB-crystallin have been implicated in autosomal cataracts and skeletal myopathies, including heart muscle diseases (cardiomyopathy).
|
29162721 |
2018 |
Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
In this study, we screened for polymorphisms in crystallin alpha A (CRYAA) and alpha B (CRYAB) genes in 200 patients over 40 years of age, diagnosed with age-related cataract (ARC; nuclear and cortical cataracts).
|
28146420 |
2017 |
Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations of HSPB5 (also known as CRYAB or αB-crystallin), a bona fide heat shock protein and molecular chaperone encoded by the HSPB5 (crystallin, alpha B) gene, are linked to multisystem disorders featuring variable combinations of cataracts, cardiomyopathy, and skeletal myopathy.
|
27226619 |
2016 |
Bilateral cataracts (disorder)
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
To investigate the expression of αA- and αB-crystallin and the unfolded protein response in the lens epithelium of patients with high myopia-related cataracts.
|
26351848 |
2015 |
Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.
|
26402864 |
2015 |
Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.
|
25195561 |
2014 |
Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Dominant mutations in the alpha-B crystallin (CryAB) gene are responsible for a number of inherited human disorders, including cardiomyopathy, skeletal muscle myopathy, and cataracts.
|
23818860 |
2013 |
Bilateral cataracts (disorder)
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
These knock-in αB-R120G mice are a valuable model of the developmental and molecular biological mechanisms that underlie the pathophysiology of human hereditary cataracts and myopathy.
|
21445271 |
2011 |