Condition: Glaucoma, Primary Open Angle


rs1057519378 in CARD10 gene and Glaucoma, Primary Open Angle PMID 27896285 2016 Rare variants in optic disc area gene CARD10 enriched in primary open-angle glaucoma.

rs74315329 in MYOC;MYOCOS gene and Glaucoma, Primary Open Angle PMID 22933836 2012 Low prevalence of myocilin mutations in an African American population with primary open-angle glaucoma.

PMID 23304066 2012 To describe the phenotype of ocular hypertension and primary open-angle glaucoma in a family with individuals compound heterozygote for Gln368STOP and Thr377Met myocilin (MYOC) mutations.

PMID 9005853 1997 Identification of a gene that causes primary open angle glaucoma.

PMID 24732711 2014 Cellular processing of myocilin.

PMID 17562996 2007 Myocilin variants in Indian patients with open-angle glaucoma.

PMID 9639450 1998 A novel mutation in the GLC1A gene causes juvenile open-angle glaucoma in 4 families from the Italian region of Puglia.

PMID 17615537 2007 Role of MYOC and OPTN sequence variations in Spanish patients with primary open-angle glaucoma.

PMID 20021252 2010 In the primary open angle glaucoma family described here, we documented a wide range in clinical symptoms, demonstrating a highly variable penetrance of the MYOC p.Gln368X mutation.

PMID 11803488 2001 Ten occurrences of four different sequence changes were detected, including: 1) five times the same disease-causing mutation (Q368X) in five unrelated POAG patients and 2) three distinct polymorphisms in five patients.

PMID 10815160 2000 We identified the Gln368stop molecular defect in 19 patients with POAG, 5 patients with ocular hypertension, and 22 healthy carriers.

PMID 11535458 2001 For Gln368STOP carriers, age-related penetrance for OHT or POAG was 72% at age 40 years and 82% at age 65 years.

PMID 11815346 2002 Rapid mutation detection by the transgenomic wave analyser DHPLC identifies MYOC mutations in patients with ocular hypertension and/or open angle glaucoma.

PMID 19023451 2008 Heterozygous expression of myocilin glaucoma mutants increases secretion of the mutant forms and reduces extracellular processed myocilin.

PMID 12872267 2003 A single mutation, Q368X (c.1102C>T), accounted for the majority (12/17) of these mutations, corresponding to a frequency of 5% among POAG patients, the highest ever reported for this mutation.

PMID 12189160 2002 Founder TIGR/myocilin mutations for glaucoma in the Québec population.

rs1346865805 in OPTN gene and Glaucoma, Primary Open Angle PMID 22854040 2012 Optineurin mediates a negative regulation of Rab8 by the GTPase-activating protein TBC1D17.

PMID 15226658 2004 Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.

PMID 23669351 2013 Enhanced optineurin E50K-TBK1 interaction evokes protein insolubility and initiates familial primary open-angle glaucoma.

PMID 17389490 2007 A glaucoma-associated mutant of optineurin selectively induces death of retinal ganglion cells which is inhibited by antioxidants.

PMID 12939304 2003 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.

PMID 15326130 2004 Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.

PMID 11834836 2002 Adult-onset primary open-angle glaucoma caused by mutations in optineurin.

PMID 14597044 2003 Evaluation of optineurin sequence variations in 1,048 patients with open-angle glaucoma.

PMID 15557444 2004 Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.

PMID 24752605 2014 E50K-OPTN-induced retinal cell death involves the Rab GTPase-activating protein, TBC1D17 mediated block in autophagy.

PMID 20085643 2010 Regulation of endocytic trafficking of transferrin receptor by optineurin and its impairment by a glaucoma-associated mutant.

PMID 12939304 2003 Different optineurin mutation pattern in primary open-angle glaucoma.

PMID 23669351 2013 The optineurin (OPTN) E50K mutation was first identified in familial primary open-angle glaucoma (POAG), the onset of which is not associated with intraocular pressure (IOP) elevation, and is classified as normal-tension glaucoma (NTG).

PMID 12939304 2003 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.