rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Crystal structure of the cataract-causing P23T γD-crystallin mutant.
|
23670788 |
2013 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
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 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin.
|
22669729 |
2012 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein.
|
31422822 |
2019 |
rs1463326176
|
|
|
0.060 |
GeneticVariation |
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 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
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 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
This contact, at the P23T substitution site, relates to a genetic cataract and reveals at a molecular level the origin of the lowered and retrograde solubility of the protein.
|
31422822 |
2019 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
The present study describes identification of p.Pro23Thr mutation in CRYGD for aculeiform type cataract in an ADCC family of Indian origin.
|
22669729 |
2012 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Crystal structure of the cataract-causing P23T γD-crystallin mutant.
|
23670788 |
2013 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
BEFREE |
Decrease in protein solubility and cataract formation caused by the Pro23 to Thr mutation in human gamma D-crystallin.
|
15709761 |
2005 |
rs28931605
|
|
|
0.060 |
GeneticVariation |
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 |
rs104894201
|
|
|
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
|
|
|
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
|
|
|
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 |
rs104894201
|
|
|
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 |
rs121909596
|
|
|
0.030 |
GeneticVariation |
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 |
rs121909596
|
|
|
0.030 |
GeneticVariation |
BEFREE |
In a nutshell, the increased surface hydrophobicity could be the cause of self-aggregation of mutant R58H leading to aculeiform cataract.
|
29532225 |
2018 |
rs121909596
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The R58H mutation described in this Mexican family is identical to that demonstrated previously in three unrelated families with aculeiform cataract, suggesting that this type of cataract has a specific molecular basis represented by the Arg to His change at residue 58 of CRYGD.
|
16030500 |
2005 |
rs2165241
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined for 78 consecutive Japanese patients with BRVO (11 patients with exfoliation syndrome [EX+], 67 patients without exfoliation syndrome [EX-]), and 158 patients with cataract without EX (CT) as controls.
|
22194657 |
2011 |
rs2165241
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The allelic and genotypic frequencies of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) were determined in 68 consecutive Japanese patients with CRVO [15 with exfoliation syndrome (EX+) and 53 without exfoliation syndrome (EX-)] and 90 control patients with cataract without EX (CT).
|
25130441 |
2015 |
rs2165241
|
|
|
0.030 |
GeneticVariation |
BEFREE |
We evaluated the association of three LOXL1 variants (rs1048661, rs3825942, and rs2165241) in 142 Japanese patients with exfoliation syndrome (EX; n=59) and exfoliation glaucoma (EG; n=83) as well as in 251 control patients aged 70 years or older with primary open-angle glaucoma (PG; n=40), normal tension glaucoma (NG; n=54), and cataract (CT; n=157).
|
18958304 |
2008 |
rs398122937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The G143R missense substitution in connexin (Cx) 46 is associated with congenital Coppock cataracts; however, the underlying molecular mechanism is largely unknown.
|
29298900 |
2018 |
rs398122937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
Direct sequencing of the candidate gene GJA3 (gap junction protein alpha-3) revealed a c.427G>A transition in exon 2 of GJA3 that co-segregated with the cataract in the family members and was not observed in 100 control patients.
|
22876138 |
2012 |
rs398122937
|
|
|
0.030 |
GeneticVariation |
BEFREE |
The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts.
|
24019978 |
2013 |