|
rs1048661
|
|
|
0.010 |
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 |
|
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
|
|
|
0.020 |
GeneticVariation |
BEFREE |
The G18V CRYGS mutation associated with human cataracts increases gammaS-crystallin sensitivity to thermal and chemical stress.
|
19558189 |
2009 |
|
rs104893736
|
|
|
0.020 |
GeneticVariation |
BEFREE |
A single point mutation generates the cataract-related variant γS-G18V, dramatically altering the optical properties of the eye lens.
|
27052457 |
2016 |
|
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 |
|
rs1050828
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we aimed to analyze the frequency of two single-nucleotide polymorphisms (G202A and A376G) present in two local tribes of Sudanese Arabs from the region of the 4th Nile cataract in Sudan, the Shagia and Manasir.
|
23146719 |
2013 |
|
rs1050829
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In this study, we aimed to analyze the frequency of two single-nucleotide polymorphisms (G202A and A376G) present in two local tribes of Sudanese Arabs from the region of the 4th Nile cataract in Sudan, the Shagia and Manasir.
|
23146719 |
2013 |
|
rs1057518802
|
|
T |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
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 |
|
rs1064796765
|
|
A |
0.700 |
GeneticVariation |
CLINVAR |
|
|
|
|
rs11129182
|
|
|
0.010 |
GeneticVariation |
BEFREE |
In genotype analysis, the "CT" genotype of rs11129182, the 'GG' genotype of rs17047573, and the 'GG' genotype of rs17047586 were significantly different in the T2D and cataract groups (OR=3.03, 7.47, and 7.51, individually; 95% confidence index (CI): 1.97-4.65, 3.36-16.6, and 3.38-16.7, individually).
|
20664687 |
2010 |
|
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 |
|
rs11260867
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Minor allele homozygous genotypes of rs7543472 and rs11260867 compared to the major homozygote genotype were associated with cortical cataract, Odds ratio (OR) = 1.8, 95% Confidence Interval (CI) (1.1, 3.1) p = 0.03 and 2.9 (1.2, 7.1) p = 0.01 respectively, and with PSC cataract, OR = 1.5 (1.1, 2.2) p = 0.02 and 1.8 (0.9, 3.6) p = 0.07 respectively.
|
22412971 |
2012 |
|
rs1135401778
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features.
|
28942966 |
2017 |
|
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 |
|
rs11574311
|
|
|
0.010 |
GeneticVariation |
BEFREE |
WRN-rs11574311 remains associated with cortical and mixed cataract and WRN-rs2725338 with mixed cataract after multiple testing correction.
|
23322570 |
2013 |
|
rs1163215981
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Sequence analysis of the major intrinsic protein of lens fiber gene (MIP), a gene known to cause other types of cataract in the linkage interval, detected a novel heterozygous initiation codon mutation, c.2T>C (p.Met1?).
|
21850180 |
2011 |
|
rs118203965
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Here we have characterized the lens phenotypes of mutant (knock-in) mice harboring a human cataract-associated mutation (p.D129V) in CHMP4B (Chmp4b-mutant) and conditional knockdown mice deficient in lens CHMP4B (Chmp4b-CKD).
|
31404815 |
2020 |
|
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 |
|
rs1215029143
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Physico-chemical properties of G154S, R157H and A171T mutants of αB-crystallin (HspB5) associated with congenital human diseases including certain myopathies and cataract were investigated.
|
28919577 |
2017 |
|
rs1215603718
|
|
|
0.010 |
GeneticVariation |
BEFREE |
To establish pathophysiological relevance of cataract formation, the Xenopus laevis oocyte expression system was employed to evaluate functional defects in the mutant proteins, E134G and T138R.
|
11001937 |
2000 |
|
rs121909595
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The Arg14 to Cys (R14C) mutation in the human gammaD-crystallin (HGD) gene has been associated with a juvenile-onset hereditary cataract.We showed previously [Pande, A., et al.(2000) Proc.Natl.Acad.Sci.
|
19382745 |
2009 |