المنشورات و المؤلفات
BACKGROUND:
We investigated whether polymorphism rs7555523 (A > C) in human transmembrane and coiled-coil domain 1 (TMCO1) gene is a risk factor for primary open angle glaucoma (POAG) in a Saudi cohort.
METHODS:
A cohort of 87 unrelated POAG...
AIMS:
To investigate the association between the rs1900004 polymorphism in the atonal bHLH transcription factor 7 (ATOH7) gene and primary open angle glaucoma (POAG) in Saudi patients.
METHODS:
Eighty-seven unrelated POAG cases and 94 unrelated...
AIMS:
To investigate whether the polymorphism rs1063192 (A>G) in the cyclin-dependent kinase Inhibitor-2B (CDKN2B) gene is a risk factor for primary open-angle glaucoma (POAG).
METHOD:
A case-control study was conducted wherein we genotyped 87...
BACKGROUND:
To investigate whether SNP rs4986790 in toll-like receptors (TLRs) is a risk factor for primary open angle glaucoma (POAG) in a Saudi population.
MATERIALS AND METHODS:
A cohort of 85 unrelated POAG patients and 95 unrelated control...
AIMS:
To investigate whether single nucleotide polymorphism (SNP) rs4986791 (C>T) in the toll-like receptor 4 (TLR4) gene is a risk factor for primary open-angle glaucoma (POAG) in the Saudi population.
METHOD:
A case-control study was performed...
AIMS:
To investigate whether the single-nucleotide polymorphism (SNP) rs5743704 in the toll-like receptor 2 gene is associated with primary open-angle glaucoma (POAG) or any of its clinical indices in a Saudi cohort.
METHOD:
Ninety-five unrelated...
OBJECTIVES:
To compare the mean total antioxidant status (TAS) among 3 glaucoma types, namely: pseudoexfoliation glaucoma (PEG), primary open angle glaucoma (POAG), and primary angle closure glaucoma (PACG), and study its potential association with...
Abstract
PURPOSE:
To investigate the possible association of oxidative stress with keratoconus (KC), we estimated the changes in relative mitochondrial DNA (mtDNA) content.
METHODS:
The study included 119 patients with KC and 208 controls matched...
Abstract
PURPOSE:
To investigate whether major single nucleotide polymorphisms (SNPs) in the LOXL1 gene associated with pseudoexfoliation glaucoma are associated with primary open angle glaucoma (POAG) in the Saudi Arabian population.
METHODS:
The...
Abstract
Purpose
To investigate the expression of the myocilin gene (MYOC) in the blood of primary open angle glaucoma (POAG) patients to determine if altered systemic expression is playing a role.
Methods
Patients (n=47) were eligible for inclusion...
Abstract
Purpose
To investigate the expression level of the optineurin gene (OPTN) in the blood of primary open angle glaucoma (POAG) patients to determine if altered expression is playing a role in primary open angle glaucoma systemically.
Methods...
Abstract
Background
To Investigate whether the g.4760C>T polymorphism in the promoter region of the catalase gene (CAT) is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population.
Methods
138 unrelated PACG patients and...
Abstract
We investigated whether the c.47T > C polymorphism (SNP rs4880) in the manganese superoxide dismutase (SOD2) gene is a risk factor for primary angle closure glaucoma (PACG) in the Saudi population. Among cases (n = 139), the prevalence...
Abstract
We investigated Saudi patients with familial and sporadic Keratoconus for mutations in the Superoxide dismutase 1, soluble (SOD1) gene. We sequenced the entire coding region, exon-intron boundaries and intron 2 encompassing a 7-bp deletion...
Abstract
Purpose. We investigated whether a group of patients with keratoconus (KTCN) harbor mutations in the mitochondrial genome.
Methods. We sequenced the full mitochondrial genome in a group of Saudi patients with KTCN (n = 26) and 100...
Abstract
Background
To evaluate total antioxidant status (TAS) in the plasma of primary angle closure glaucoma (PACG) patients and to compare it to that of the control group. Additionally, we aim to investigate the association of various PACG...
AbstractPurpose. Keratoconic corneas exhibit more mitochondrial DNA (mtDNA) damage than do normal corneas and thus mtDNA may represent a potential candidate for genetic susceptibility studies in keratoconus. To test this hypothesis we determined...
ABSTRACT: Objective: Homozygous homeobox A1 (HOXA1) mutations cause a spectrum of abnormalities in humans includingbilateral profound deafness. This study evaluates the possible role of HOXA1 mutations in familial, non-syndromic...