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rs104894201
|
|
|
0.020 |
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 |
|
rs398122937
|
|
|
0.020 |
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
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The G143R missense mutation on connexin (Cx) 46 was recently reported to be associated with congenital Coppock cataracts.
|
24019978 |
2013 |
|
rs104894201
|
|
|
0.020 |
GeneticVariation |
BEFREE |
These knock-in αB-R120G mice are a valuable model of the developmental and molecular biological mechanisms that underlie the pathophysiology of human hereditary cataracts and myopathy.
|
21445271 |
2011 |
|
rs33972313
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In analyses of pure cataracts, associations were found only between rs33972313 and pure cortical cataracts (OR 2.29; 95% CI 1.12 to 4.65, p=0.03) and with a standardised cortical opacity score.
|
30442817 |
2019 |
|
rs587778872
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Two mutations (p.Tyr139X and p.Ser166Phe) identified in two unrelated families were associated with their congenital nuclear cataracts and microcornea respectively, which are also reported previously.
|
28298635 |
2017 |
|
rs1463326176
|
|
|
0.010 |
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 |
|
rs1483130765
|
|
|
0.010 |
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 |
|
rs2228000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Study of Association between Pre-Senile Cataracts and the Polymorphisms rs2228000 in XPC and rs1042522 in p53 in Spanish Population.
|
27248495 |
2016 |
|
rs28931605
|
|
|
0.010 |
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 |
|
rs750872744
|
|
|
0.010 |
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 |
|
rs78378222
|
|
|
0.010 |
GeneticVariation |
BEFREE |
rs78378222 polymorphism in the 3'-untranslated region of TP53 contributes to development of age-associated cataracts by modifying microRNA-125b-induced apoptosis of lens epithelial cells.
|
27431420 |
2016 |
|
rs1114167307
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An N-terminal mutant of connexin46 (T19M) alters a highly conserved threonine and has been linked to autosomal dominant cataracts.
|
25404239 |
2015 |
|
rs113624356
|
|
|
0.010 |
GeneticVariation |
BEFREE |
With regards to p.(Met390Arg) cases, homozygotes showed a relatively more severe ocular phenotype than compound heterozygotes, since more severe fundus alterations and higher frequency of cataracts and dyschromatopsia (not previously described) were documented in the first group.
|
26082521 |
2015 |
|
rs375933774
|
|
|
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 |
|
rs781902168
|
|
|
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 |
|
rs79121622
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here, we demonstrate via BAC (bacterial artificial chromosome) transgenesis that p.Arg116His recreates the childhood lamellar cataract in mice suggesting that incomplete penetrance associated with early cataracts may not be an absence but a limitation of the detection of the phenotype.
|
24975927 |
2014 |
|
rs1063147
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60).
|
23322570 |
2013 |
|
rs11574311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60).
|
23322570 |
2013 |
|
rs267607087
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we report the clinical and molecular consequences of a particular mutation (p.S331Y) in SPTLC1 affecting a patient with severe, diffuse muscle wasting and hypotonia, prominent distal sensory disturbances, joint hypermobility, bilateral cataracts and considerable growth retardation.
|
23454272 |
2013 |
|
rs2725338
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60).
|
23322570 |
2013 |
|
rs2725383
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60).
|
23322570 |
2013 |
|
rs4733220
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The results show that WRN-rs11574311 was initially associated with ARC in general, cortical, and mixed cataracts (P = 0.003, odds ratio [OR] = 1.49; P = 0.001, OR = 1.68; and P < 0.0001, OR = 2.08), BLM-rs1063147 with nuclear cataract (P = 0.03, OR = 1.31), WRN-rs2725383 with cortical cataract (P = 0.01, OR = 1.49), and WRN-rs4733220 and WRN-rs2725338 with mixed cataract (P = 0.04, OR = 0.74; P = 0.003, OR = 0.60).
|
23322570 |
2013 |
|
rs398122944
|
|
|
0.010 |
GeneticVariation |
BEFREE |
This study identified a disease-causing mutation c.471G>A in CRYGC in a Chinese family with cataracts, expanding the mutation spectrum of CRYGC causing congenital cataracts.
|
22876111 |
2012 |
|
rs121912973
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The present study identified a missense mutation (R116H) in the CRYAA gene that causes autosomal dominant congenital anterior polar cataracts in a Chinese family.
|
22065922 |
2011 |