|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.
|
24752605 |
2014 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.
|
23669351 |
2013 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.
|
22854040 |
2012 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The M98K and R545Q polymorphisms have no association with POAG susceptibility.
|
20671613 |
2010 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.
|
20085643 |
2010 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
BEFREE |
However, the T34T silent change was present in greater frequency in POAG patients (37.37% vs. 23.00% in controls), while the R545Q change was more prevalent in controls (23.00% vs. 10.10% in POAG).
|
19172505 |
2009 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.
|
17389490 |
2007 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
BEFREE |
The R545Q variant was found in two Asian individuals with primary open-angle glaucoma; one of Filipino ancestry and one of Korean ancestry.
|
17293779 |
2007 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
BEFREE |
Despite a putative mutation (Arg545Gln) in some patients, the present study does not suggest a significant involvement of OPTN in POAG patients of Indian origin.
|
16205626 |
2005 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.
|
15226658 |
2004 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
|
15326130 |
2004 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
|
15557444 |
2004 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.
|
14597044 |
2003 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Different optineurin mutation pattern in primary open-angle glaucoma.
|
12939304 |
2003 |
|
rs75654767
|
|
|
0.740 |
GeneticVariation |
UNIPROT |
Adult-onset primary open-angle glaucoma caused by mutations in optineurin.
|
11834836 |
2002 |