Blindness
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
Conformational dynamics study on human γS-crystallin as an efficient route to childhood blindness.
|
30827504 |
2019 |
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 |
CATARACT, MARNER TYPE
|
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 Bilateral Cataracts
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We report a novel missense mutation, p.V42M, in CRYGS associated with bilateral congenital cataract in a family of Indian origin.
|
19262743 |
2009 |
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 |
Novel mutation in the gamma-S crystallin gene causing autosomal dominant cataract.
|
19262743 |
2009 |
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 |
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 |
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 |
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 |
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 |
Cortical cataract
|
0.030 |
GeneticVariation
|
disease |
BEFREE |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Cataract, Central Saccular, With Sutural Opacities
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Crystallin gene mutations in Indian families with inherited pediatric cataract.
|
18587492 |
2008 |
Lens Opacities
|
0.300 |
Biomarker
|
phenotype |
CTD_human |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
Cataract, Central Saccular, With Sutural Opacities
|
0.300 |
GermlineCausalMutation
|
disease |
ORPHANET |
Gamma-S crystallin gene (CRYGS) mutation causes dominant progressive cortical cataract in humans.
|
16141006 |
2005 |
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 |
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 |
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 |
Structural study of the G57W mutant of human gamma-S-crystallin, associated with congenital cataract.
|
27440995 |
2016 |
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 |
Biomarker
|
disease |
MGD |
The gamma S-crystallin gene is mutated in autosomal recessive cataract in mouse.
|
12079281 |
2002 |
Congenital cataract
|
0.350 |
Biomarker
|
disease |
MGD |
A temperature-sensitive mutation of Crygs in the murine Opj cataract.
|
11121426 |
2001 |