Search Results - "Realini, Anthony"
-
1
The p53 codon 72 PRO/PRO genotype may be associated with initial central visual field defects in caucasians with primary open angle glaucoma
Published in PloS one (26-09-2012)“…Loss of vision in glaucoma is due to apoptotic retinal ganglion cell loss. While p53 modulates apoptosis, gene association studies between p53 variants and…”
Get full text
Journal Article -
2
Corneal Hysteresis and Obstructive Sleep Apnea - Does It Account for Glaucoma?
Published in Chest (23-10-2011)Get full text
Journal Article -
3
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma
Published in PLoS genetics (01-04-2012)“…Optic nerve degeneration caused by glaucoma is a leading cause of blindness worldwide. Patients affected by the normal-pressure form of glaucoma are more…”
Get full text
Journal Article -
4
Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes
Published in Ophthalmology (Rochester, Minn.) (01-07-2023)“…Genetic variants in regions that include the mitochondrial genes thioredoxin reductase 2 (TXNRD2) and malic enzyme 3 (ME3) are associated with primary…”
Get full text
Journal Article -
5
Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process
Published in Nature communications (22-09-2014)“…Glaucoma is characterized by irreversible optic nerve degeneration and is the most frequent cause of irreversible blindness worldwide. Here, the International…”
Get full text
Journal Article -
6
Mechanosensitive ion channel gene survey suggests potential roles in primary open angle glaucoma
Published in Scientific reports (23-09-2023)“…Although glaucoma is a disease modulated by eye pressure, the mechanisms of pressure sensing in the eye are not well understood. Here, we investigated…”
Get full text
Journal Article -
7
Systems genetics identifies a role for Cacna2d1 regulation in elevated intraocular pressure and glaucoma susceptibility
Published in Nature communications (24-11-2017)“…Glaucoma is a multi-factorial blinding disease in which genetic factors play an important role. Elevated intraocular pressure is a highly heritable risk factor…”
Get full text
Journal Article -
8
Discovery and functional annotation of SIX6 variants in primary open-angle glaucoma
Published in PLoS genetics (01-05-2014)“…Glaucoma is a leading cause of blindness worldwide. Primary open-angle glaucoma (POAG) is the most common subtype and is a complex trait with multigenic…”
Get full text
Journal Article -
9
Myocilin Mutations in Patients With Normal-Tension Glaucoma
Published in JAMA ophthalmology (01-05-2019)“…Mutations in the myocilin (MYOC) gene are the most common molecularly defined cause of primary open-angle glaucoma that typically occurs in patients with high…”
Get more information
Journal Article -
10
A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium
Published in Investigative ophthalmology & visual science (01-08-2016)“…Noncoding microRNAs (miRNAs) have been implicated in the pathogenesis of glaucoma. We aimed to identify common variants in miRNA coding genes (MIR) associated…”
Get full text
Journal Article -
11
Genomic locus modulating corneal thickness in the mouse identifies POU6F2 as a potential risk of developing glaucoma
Published in PLoS genetics (25-01-2018)“…Central corneal thickness (CCT) is one of the most heritable ocular traits and it is also a phenotypic risk factor for primary open angle glaucoma (POAG). The…”
Get full text
Journal Article -
12
Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology
Published in Genetic epidemiology (01-03-2015)“…ABSTRACT Primary open‐angle glaucoma is the most common optic neuropathy and an important cause of irreversible blindness worldwide. The optic nerve head or…”
Get full text
Journal Article -
13
Analysis combining correlated glaucoma traits identifies five new risk loci for open-angle glaucoma
Published in Scientific reports (15-02-2018)“…Open-angle glaucoma (OAG) is a major cause of blindness worldwide. To identify new risk loci for OAG, we performed a genome-wide association study in 3,071 OAG…”
Get full text
Journal Article -
14
Family-Based Genome-Wide Association Study of South Indian Pedigrees Supports WNT7B as a Central Corneal Thickness Locus
Published in Investigative ophthalmology & visual science (01-05-2018)“…To identify genetic risk factors contributing to central corneal thickness (CCT) in individuals from South India, a population with a high prevalence of ocular…”
Get full text
Journal Article -
15
Genome-wide analysis of central corneal thickness in primary open-angle glaucoma cases in the NEIGHBOR and GLAUGEN consortia
Published in Investigative ophthalmology & visual science (03-07-2012)“…To investigate the effects of central corneal thickness (CCT)-associated variants on primary open-angle glaucoma (POAG) risk using single nucleotide…”
Get full text
Journal Article -
16
The NEIGHBOR Consortium Primary Open-Angle Glaucoma Genome-wide Association Study: Rationale, Study Design, and Clinical Variables
Published in Journal of glaucoma (01-09-2013)“…Primary open-angle glaucoma (POAG) is a common disease with complex inheritance. The identification of genes predisposing to POAG is an important step toward…”
Get full text
Journal Article -
17
DNA copy number variants of known glaucoma genes in relation to primary open-angle glaucoma
Published in Investigative ophthalmology & visual science (20-11-2014)“…We examined the role of DNA copy number variants (CNVs) of known glaucoma genes in relation to primary open angle glaucoma (POAG). Our study included DNA…”
Get full text
Journal Article -
18
A Common Variant in MIR182 Is Associated With Primary Open-Angle Glaucoma in the NEIGHBORHOOD Consortium
Published in Investigative ophthalmology & visual science (01-08-2016)Get full text
Journal Article -
19
Travoprost in the management of open-angle glaucoma and ocular hypertension
Published in Clinical ophthalmology (Auckland, N.Z.) (01-03-2007)“…Travoprost is a member of the prostaglandin analogue class of intraocular pressure (IOP)-lowering drugs used to treat ocular hypertension and glaucoma. Like…”
Get full text
Journal Article -
20
56,000 Ways to Treat Glaucoma
Published in Evidence-based eye care (01-04-2003)Get full text
Journal Article