Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The cataract-associated mutant D26G of HGSC is remarkably close to the WT molecule in structural features, with only a microenvironmental change in the packing around the mutation site.
|
23761725 |
2013 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The cataract-causing mutation G75V promotes γS-crystallin aggregation by modifying and destabilizing the native structure.
|
29857103 |
2018 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human γS-crystallin are contingent with childhood cataracts.
|
31738854 |
2019 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Preferential and specific binding of human αB-crystallin to a cataract-related variant of γS-crystallin.
|
24183572 |
2013 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Overall, our results establish a direct conformational link between the structure, dynamics, design and function in human γS-crystallin such that the G57W cataract variant promotes enhanced structural excursions concomitant with increased instability, elucidating very crucial molecular details of cataract formation affecting infants across the globe.
|
31084934 |
2019 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
Structure of G57W mutant of human γS-crystallin and its involvement in cataract formation.
|
30769148 |
2019 |
Cataract
|
0.480 |
AlteredExpression
|
disease |
BEFREE |
Removal of Hsf4 leads to cataract development in mice through down-regulation of gamma S-crystallin and Bfsp expression.
|
19224648 |
2009 |
Cataract
|
0.480 |
GeneticVariation
|
disease |
BEFREE |
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
|
19558189 |
2009 |
Congenital cataract
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract.
|
27440995 |
2016 |
Congenital cataract
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
A recently identified mutant of human γS-crystallin, G57W is associated with dominant congenital cataracts, the familial determinate of childhood blindness worldwide.
|
30769148 |
2019 |
Congenital cataract
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Our observations expand the mutation spectrum of CRYGS and provide further evidence for the genetic basis and molecular mechanism of congenital cataract.
|
29964096 |
2018 |
Congenital cataract
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
The mutation V42M distorts the compact packing of the human gamma-S-crystallin molecule, resulting in congenital cataract.
|
23284690 |
2012 |
Congenital cataract
|
0.350 |
GeneticVariation
|
disease |
BEFREE |
Single point mutants of human γS-crystallin cause dominant congenital cataracts, a recent one of which involves the substitution of highly conserved glycine at 57th position with a bulkier tryptophan.
|
30827504 |
2019 |
Cortical cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Here, we report the structure and α-crystallin binding interface of the G18V variant of human γS-crystallin (γS-G18V), which is linked to hereditary childhood-onset cortical cataract.
|
24183572 |
2013 |
Cortical cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Cortical cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations.
|
28450710 |
2017 |
Bilateral cataracts (disorder)
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
|
19558189 |
2009 |
Bilateral cataracts (disorder)
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Mutations in human γS-crystallin are contingent with childhood cataracts.
|
31738854 |
2019 |
Bilateral cataracts (disorder)
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Our results suggested that the aberrant modifications in γS-crystallin structure might contribute to the lower stability and higher aggregatory potency of the mutated protein, which subsequently resulted in cataracts in the patients.
|
29857103 |
2018 |
Infantile cataract
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Our two recent reports on the high resolution NMR structure and conformational dynamics of G57W variant of human γS-crystallin (abbreviated as γS-G57W) causing severe infantile cataracts, revealed slackening of its N-terminal domain with enhanced local conformational dynamics attributed to mutation.
|
31084934 |
2019 |
Infantile cataract
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Structural and functional characterization of a missense mutant of human γS-crystallin associated with dominant infantile cataracts.
|
30391002 |
2018 |
CATARACT, AUTOSOMAL DOMINANT
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
This report is the first description of a mutation in CRYGS with autosomal dominant cataract in humans.
|
16141006 |
2005 |
CATARACT, AUTOSOMAL DOMINANT
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
|
19262743 |
2009 |
Lens Subluxation
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations.
|
28450710 |
2017 |
Congenital lamellar cataract
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This included identification of: complex ocular phenotypes due to two novel PAX6 mutations; progressive cortical cataract and lamellar cataract with lens subluxation due to two novel CRYGS mutations.
|
28450710 |
2017 |