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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 |
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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 |
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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 |
|
rs104893685
|
|
|
0.010 |
GeneticVariation |
BEFREE |
We predicted that this led to a nonconservative R287W substitution in exon 4 that cosegregated with cataracts.
|
10729115 |
2000 |
|
rs104893736
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
|
19558189 |
2009 |
|
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 |
|
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 |
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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 |
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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 |
|
rs118203966
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In addition, we have detected a heterozygous transition (c.481G-->A) in exon 3 of CHMP4B cosegregating with autosomal dominant posterior polar cataracts in a Japanese family that was predicted to result in the missense substitution of lysine for a conserved glutamic acid residue at codon 161 (p.E161K).
|
17701905 |
2007 |
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rs121909598
|
|
|
0.010 |
GeneticVariation |
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 |
|
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 |
|
rs1250875000
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Unexpectedly, alphaA-R49C homozygosity led to small eye phenotype and severe cataracts at birth.
|
18056999 |
2008 |
|
rs140372256
|
|
|
0.010 |
GeneticVariation |
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 |
|
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 |
|
rs150516929
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we describe for the first time the missense mutation p.Gly154Ser to be associated with a late-onset distal vacuolar myopathy with protein aggregates without respiratory or cardiac dysfunction, and without significant cataracts.
|
20171888 |
2010 |
|
rs150857132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Mutation G61C in the CRYGD gene causing autosomal dominant congenital coralliform cataracts.
|
18334953 |
2008 |
|
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 |
|
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 |
|
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 |
|
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 |