|
rs104894201
|
|
Cataract
|
|
0.040 |
GeneticVariation
|
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 |
|
rs104894201
|
|
Cataract
|
|
0.040 |
GeneticVariation
|
BEFREE |
To investigate the mechanism by which the α-crystallin mutations Cryaa-R49C and Cryab-R120G lead to cataract formation, we determined whether these mutations cause an altered expression of specific transcripts in the lens at an early postnatal age by RNA-seq analysis.
|
29338044 |
2018 |
|
rs104894201
|
|
Cataract
|
|
0.040 |
GeneticVariation
|
BEFREE |
The most promising compound improved lens transparency in the R49C cryAA and R120G cryAB mouse models of hereditary cataract.
|
26542570 |
2015 |
|
rs104894201
|
|
Cataract
|
|
0.040 |
GeneticVariation
|
BEFREE |
These data suggest that the cataract and myopathy pathologies in αB-R120G knock-in mice share common mechanisms, including increased insolubility of αB-crystallin and co-aggregation of αB-crystallin with intermediate filament proteins.
|
21445271 |
2011 |
|
rs150516929
|
|
Cataract
|
|
0.020 |
GeneticVariation
|
BEFREE |
Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated.
|
28919577 |
2017 |
|
rs150516929
|
|
Cataract
|
|
0.020 |
GeneticVariation
|
BEFREE |
Here we describe for the first time the missense mutation p.Gly154Ser to be associated with a late-onset distal vacuolar myopathy with protein aggregates without respiratory or cardiac dysfunction, and without significant cataracts.
|
20171888 |
2010 |
|
rs139750142
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Structural and functional characterization of D109H and R69C mutant versions of human αB-crystallin: the biochemical pathomechanism underlying cataract and myopathy development.
|
31678106 |
2020 |
|
rs141638421
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated.
|
28919577 |
2017 |
|
rs370803064
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated.
|
28919577 |
2017 |
|
rs375933774
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.
|
26402864 |
2015 |
|
rs387907338
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (alphaB-crystallin) in both retina and the lens.
|
20141356 |
2010 |
|
rs387907339
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Structural and functional characterization of D109H and R69C mutant versions of human αB-crystallin: the biochemical pathomechanism underlying cataract and myopathy development.
|
31678106 |
2020 |
|
rs534473091
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
To describe later retinal degeneration following childhood cataract surgery without intraocular lens implantation in a consanguineous family with developmental cataract from homozygous p.R56W mutation in CRYAB, a gene that encodes a heat-shock protein (alphaB-crystallin) in both retina and the lens.
|
20141356 |
2010 |
|
rs781902168
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
Here, we report two novel missense mutations, p.R11C and p.R12C, in CRYAB associated with autosomal recessive congenital nuclear cataracts.
|
26402864 |
2015 |
|
rs782809283
|
|
Cataract
|
|
0.010 |
GeneticVariation
|
BEFREE |
In the present study, we set out to investigate the possible molecular mechanism by which the R11H mutation causes cataract.
|
21087083 |
2010 |