rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.
|
24752605 |
2014 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.
|
23669351 |
2013 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.
|
22854040 |
2012 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.
|
20085643 |
2010 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
|
17389490 |
2007 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
|
15326130 |
2004 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
|
15557444 |
2004 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.
|
15226658 |
2004 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
|
14597044 |
2003 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Among them, only E103D, H486R, V148V, and IVS13+21C-->G were found exclusively in patients with POAG, whereas P199P, T202T, and IVS8+20G-->A were present only in control subjects.
|
12939304 |
2003 |
rs1346865805
|
|
|
0.700 |
GeneticVariation |
UNIPROT |
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
|
11834836 |
2002 |