Cataract
|
0.700 |
Biomarker
|
disease |
BEFREE |
γD-Crystallin (HγDC) is a key structural protein in the human lens, whose aggregation has been associated with the development of cataracts.
|
31199646 |
2019 |
Cataract
|
0.700 |
Biomarker
|
disease |
BEFREE |
Human γd-crystallin (Hγd-crystallin), a major protein component of the human eye lens, is associated with the development of juvenile- and mature-onset cataracts.
|
29949747 |
2018 |
Cataract
|
0.700 |
Biomarker
|
disease |
CTD_human |
Dynamic disulfide exchange in a crystallin protein in the human eye lens promotes cataract-associated aggregation.
|
30242128 |
2018 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A molecular dynamics approach to explore the structural characterization of cataract causing mutation R58H on human γD crystallin.
|
29532225 |
2018 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutational analysis of CRYGD identified a recurrent (p.P24T) mutation in two unrelated families with congenital coralliform cataracts and three novel (p.Q101X, p.E104fsX4 and p.E135X) mutations in three families with congenital nuclear cataracts.
|
26732753 |
2016 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Exome sequencing identifies novel and recurrent mutations in GJA8 and CRYGD associated with inherited cataract.
|
25403472 |
2014 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We identified a C to A transversion at nucleotide position c.70 in exon 2 of CRYGD, a cataract-associated gene.
|
24103489 |
2013 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Up to now, efforts to crystallize the cataract-associated P23T mutant of human γD-crystallin have not been successful.
|
23670788 |
2013 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Some mutants of human γD-crystallin are closely linked to congenital cataracts, although the detailed molecular mechanisms of mutant-associated cataract formation are generally not known.
|
23124202 |
2013 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Interestingly, a mutation of different codon, i.e., p.Arg58His in CRYGD has been reported to be linked with aculeiform cataract in four different families; two from Switzerland, one from Macedonia and in a Mexican family.
|
22669729 |
2012 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Although a number of γD-crystallin mutations are associated with cataract formation, there is not a clear understanding of the molecular mechanism(s) that lead to this protein deposition disease.
|
22394327 |
2012 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
A number of point mutations in γD-crystallin are associated with human cataract.
|
21827768 |
2011 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Benedek, J. Pande, Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin, Biochemistry 44 (2005) 2491-2500] that the mutation dramatically lowers the solubility of P23T but the overall protein fold is maintained.
|
19275895 |
2009 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Direct sequencing of the candidate CRYGA-CRYGD gene cluster revealed a c.470G>A transversion in exon 3 of CRYGC, which cosegregated with cataracts in the family and was not observed in 100 normal controls.
|
19204787 |
2009 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
|
18334953 |
2008 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8.
|
17724170 |
2007 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The cataract-associated serine at site 23 corresponds to the ancestral state, since it was found in CRYGD of a lower primate and all the surveyed nonprimate mammals.
|
17564961 |
2007 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To present a previously unreported four generation affected Mexican pedigree with congenital hereditary aculeiform cataract caused by a mutation in the gammaD-crystallin (CRYGD) gene.
|
16030500 |
2005 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
"A missense mutation in the gammaD crystallin gene (CRYGD) associated with autosomal dominant ""coral-like"" cataract linked to chromosome 2q."
|
15041957 |
2004 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
It appeared to be caused by a missense mutation in the CRYGD gene, further supporting the notion that alterations to CRYG play an important factor in human cataract formation.
|
15064679 |
2004 |
Cataract
|
0.700 |
Biomarker
|
disease |
LHGDN |
The P23T cataract mutation causes loss of solubility of folded gammaD-crystallin.
|
15451671 |
2004 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family.
|
12676897 |
2003 |
Cataract
|
0.700 |
GeneticVariation
|
disease |
LHGDN |
Sequencing of the coding regions of the CRYGA, B, C, and D genes showed the presence of a heterozygous C>A transversion in exon 2 of CRYGD that is associated with cataracts in this family.
|
12676897 |
2003 |
Cataract
|
0.700 |
Biomarker
|
disease |
BEFREE |
To our knowledge, these findings are the first evidence of an involvement of CRYGC and support the role of CRYGD in human cataract formation.
|
10521291 |
1999 |