Khaled K. Abu‐Amero
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View article: Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice
Genetics of Retinoblastoma: An Overview and Significance of Genetic Testing in Clinical Practice Open
Retinoblastoma is a rare but malignant pediatric retinal tumor, affecting 1 in 15,000–20,000 live births annually. It arises from biallelic mutations in the RB1 tumor suppressor gene (chromosome 13q14.2), leading to uncontrolled cell cycle…
View article: Functionally deficient UBOX5 variants and primary angle-closure glaucoma
Functionally deficient UBOX5 variants and primary angle-closure glaucoma Open
Primary angle-closure glaucoma is a major cause of irreversible blindness worldwide afflicting >20 million people. Through whole exome sequencing, we analysed the association between gene-based burden of rare, protein-altering genetic vari…
View article: Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia
Genetics and Clinical Findings Associated with Early-Onset Myopia and Retinal Detachment in Saudi Arabia Open
Autosomal recessive types of both syndromic and non-syndromic inherited myopia are common in Saudi Arabia (SA) because many people marry their relatives. The prevalence of syndromic myopathies in SA, like Stickler syndrome (SS), Knobloch s…
View article: Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions
Advances in Precision Therapeutics and Gene Therapy Applications for Retinal Diseases: Impact and Future Directions Open
Gene therapy has emerged as a promising treatment for several eye diseases since it may restore vision and stop blindness. Many eye diseases, including retinitis pigmentosa and macular degeneration, have historically been rather difficult …
View article: Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review
Mitochondrial DNA Pathogenic Variants in Ophthalmic Diseases: A Review Open
Mitochondria are vital organelles responsible for ATP production and metabolic regulation, essential for energy-intensive cells such as retinal ganglion cells. Dysfunction in mitochondrial oxidative phosphorylation or mitochondrial DNA (mt…
View article: P728: Identification of rare genetic variants in keratoconus families via exome sequencing
P728: Identification of rare genetic variants in keratoconus families via exome sequencing Open
View article: Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy
Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy Open
Purpose: Mitochondria and ionizing radiation overlap in a number of features; for instance, both generate harmful reactive oxygen species, and that radiation can induce cell death through the intermediary of mitochondria. Because a …
View article: Supplementary Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy
Supplementary Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy Open
Supplementary Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy
View article: Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy
Data from Involvement of Mitochondrial DNA Sequence Variations and Respiratory Activity in Late Complications following Radiotherapy Open
Purpose: Mitochondria and ionizing radiation overlap in a number of features; for instance, both generate harmful reactive oxygen species, and that radiation can induce cell death through the intermediary of mitochondria. Because a …
View article: Status of antituberculosis drug resistance in Saudi Arabia 1979-98
Status of antituberculosis drug resistance in Saudi Arabia 1979-98 Open
All published material on the prevalence of drug-resistant tuberculosis within Saudi Arabia over the period 1979-98 was reviewed. The prevalence of single-drug-resistant tuberculosis ranged from 3.4% to 41% for isoniazid, 0% to 23.4% for r…
View article: PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus
PPIP5K2 and PCSK1 are Candidate Genetic Contributors to Familial Keratoconus Open
View article: Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry
Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry Open
In this genome-wide association study, variants at the APBB2 locus demonstrated differential association with primary open-angle glaucoma by ancestry. If validated in additional populations this finding may have implications for risk asses…
View article: PPIP5K2 mutations & Keratoconus in Human Patients and Mouse Models
PPIP5K2 mutations & Keratoconus in Human Patients and Mouse Models Open
View article: Lack of Association between Variant rs7916697 in<i> ATOH7</i> and Primary Open Angle Glaucoma in a Saudi Cohort
Lack of Association between Variant rs7916697 in<i> ATOH7</i> and Primary Open Angle Glaucoma in a Saudi Cohort Open
A case-control genetic association study was performed to investigate whether variant rs7916697 in atonal bHLH transcription factor 7 ( ATOH7 ), which has been previously reported to be associated with optic disc parameters and primary ope…
View article: Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort
Plexin domain containing 2 (PLXDC2) gene polymorphism rs7081455 may not influence POAG risk in a Saudi cohort Open
The risk variant, 'G' allele, frequency was 0.56 and 0.52 in controls and POAG cases, respectively (p = 0.197) with was no significant deviation from Hardy-Weinberg equilibrium. Genotype analysis between cases and controls revealed no sign…
View article: Analysis of <em>CYP1B1 </em>sequence alterations in patients with primary open-angle glaucoma of Saudi origin
Analysis of <em>CYP1B1 </em>sequence alterations in patients with primary open-angle glaucoma of Saudi origin Open
Cytochrome P450 Family 1 Subfamily B Member 1 (CYP1B1; OMIM# 601771) gene encodes one of the cytochrome P450 family of enzymes. CYP1B1 mutations have been associated primarily with primary congenital glaucoma (PCG). Similar s…
View article: Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago
Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago Open
View article: Association of increased levels of plasma tumor necrosis factor alpha with primary open-angle glaucoma
Association of increased levels of plasma tumor necrosis factor alpha with primary open-angle glaucoma Open
High systemic level of an inflammatory cytokine, TNF-α, is associated with POAG; however, its possible use as a biomarker for early glaucoma diagnosis and/or disease severity needs further investigation.
View article: Additional file 2: of Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago
Additional file 2: of Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago Open
Figure S1. Phylogenetic tree of mtDNA macrohaplogroup L complete African sequences produced in this study. (XLSX 71 kb)
View article: Additional file 1: of Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago
Additional file 1: of Carriers of mitochondrial DNA macrohaplogroup L3 basal lineages migrated back to Africa from Asia around 70,000 years ago Open
Table S1. Complete mtDNA macrohaplogroup L sequences. Table S2. Frequencies of mtDNA haplogroups L2 and L3 and Y-chromosome haplogroup E lineages across Africa. Table S3. Coalescence ages in thousand years (kya) with 95% coefficient interv…
View article: Elevated levels of plasma tumor necrosis factor alpha in patients with pseudoexfoliation glaucoma
Elevated levels of plasma tumor necrosis factor alpha in patients with pseudoexfoliation glaucoma Open
Elevated systemic levels of inflammatory marker, TNF-α, are associated with PEG and may possibly serve as a biomarker for undiagnosed early glaucoma and/or as a marker for disease progression.
View article: Carriers of mitochondrial DNA macrohaplogroup L3 basic lineages migrated back to Africa from Asia around 70,000 years ago
Carriers of mitochondrial DNA macrohaplogroup L3 basic lineages migrated back to Africa from Asia around 70,000 years ago Open
Background After three decades of mtDNA studies on human evolution the only incontrovertible main result is the African origin of all extant modern humans. In addition, a southern coastal route has been relentlessly imposed to explain the …
View article: Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort
Polymorphism rs13334190 in zinc finger protein 469 (ZNF469) is not a risk factor for keratoconus in a Saudi cohort Open
The genotype frequency distribution did not deviate significantly from the Hardy-Weinberg equilibrium (p > 0.05). Overall, both the genotype and allele frequencies were not significantly different between cases and controls. A minor allele…
View article: A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles
A microdeletion in the GRHL2 Gene in two unrelated patients with congenital fibrosis of the extra ocular muscles Open
Two unrelated Saudi patients did not have any mutation(s) after sequencing the full coding regions of SALL4, CHN1, HOXA1, and TUBB3 genes; and exons 8, 20, and 21 of the KIF21A gene. However, arrayCGH revealed a 3.17 Kb deletion at chromos…
View article: Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program
Eradicating primary congenital glaucoma from Saudi Arabia: The case for a national screening program Open
The prevalence of primary congenital glaucoma (PCG) in Saudi Arabia is high and the condition is a cause of childhood blindness in the country. Children often present with severe disease, requiring multiple procedures and a lifetime of med…
View article: Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort
Polymorphism rs547984 on human chromosome 1q43 is not associated with primary open angle glaucoma in a Saudi cohort Open
Polymorphism rs547984 is neither associated with any clinical indices important for POAG such as IOP and cup/disc ratio nor is a risk factor for POAG in the Saudi cohort.
View article: Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci Open
View article: Carriers of mitochondrial DNA macrohaplogroup R colonized Eurasia and Australasia from a southeast Asia core area
Carriers of mitochondrial DNA macrohaplogroup R colonized Eurasia and Australasia from a southeast Asia core area Open
View article: Biallelic mutations in human DCC cause developmental split-brain syndrome
Biallelic mutations in human DCC cause developmental split-brain syndrome Open
View article: Lack of association between polymorphism rs540782 and primary open angle glaucoma in Saudi patients
Lack of association between polymorphism rs540782 and primary open angle glaucoma in Saudi patients Open