Browsing Faculty Publications (CoM) by Title
Now showing items 311-330 of 852
-
Genetic association of rs564398 polymorphism of the ANRIL long non-coding RNA gene and risk of type 2 diabetes: A meta-analysis
(2022)Abstract: Antisense non-coding RNA at the INK4 locus (ANRIL) is a long non-coding transcript localized within, and antisense to, the genes encoding the cyclin-dependent kinase inhibitor-2A/B (CDKN2A/B) on chromosome 9p21. ... -
Genetic contributions to autism spectrum disorder
(2021)Abstract: Autism spectrum disorder (autism) is a heterogeneous group of neurodevelopmental conditions characterized by early childhood-onset impairments in communication and social interaction alongside restricted and ... -
Genetic determinants of severe COVID 19 in young Asian and Middle Eastern patients: a case series
(2023)Abstract: Studies of genetic factors associated with severe COVID-19 in young adults have been limited in non-Caucasian populations. Here, we clinically characterize a case series of patients with COVID19, who were otherwise ... -
Genetic differences between benign phyllodes tumors and fibroadenomas revealed through targeted next generation sequencing
(2021)Abstract: Breast fibroepithelial lesions are biphasic tumors which comprise the common benign fibroadenomas (FAs) and the rarer phyllodes tumors (PTs). This study analyzed 262 (42%) conventional FAs, 45 (7%) cellular FAs, ... -
Genetic loci associated with heart rate variabilityand their effects on cardiac disease risk
(2017)Abstract: Reduced cardiac vagal control reflected in low heart rate variability (HRV) is associated with greater risks for cardiac morbidity and mortality. In two-stage meta-analyses of genome-wide association studies for ... -
Genetic Variants and Protective Immunity against SARS-CoV-2
(2022-11)Abstract: The novel coronavirus-19 (SARS-CoV-2), has infected numerous individuals worldwide, resulting in millions of fatalities. The pandemic spread with high mortality rates in multiple waves, leaving others with ... -
Genetic Variants of the PLCXD3 Gene Are Associated with Risk of Metabolic Syndrome in the Emirati Population
(2020)Abstract: Phosphatidylinositol-specific phospholipase C X domain 3 (PLCXD3) has been shown to influence pancreatic _-cell function by disrupting insulin signaling. Herein, we investigated two genetic variants in the ... -
Genetic variation in the Middle East—an opportunity to advance the human genetics field
(2020)Abstract: We highlight the current lack of representation of the Middle East from large genomic studies and emphasize the expected high impact of cataloging its variation. We discuss the limiting factors and possible ... -
Genipin attenuates cisplatin-induced nephrotoxicity by counteracting oxidative stress, inflammation, and apoptosis
(2017-07-05)Abstract: Cisplatin (CP) is a potent and widely used chemotherapeutic agent. However, the clinical benefits of CP are compromised because it elicits nephrotoxicity and ototoxicity. In this study, we investigated the ... -
Genomic Context Analysis of de Novo STXBP1 Mutations Identifies Evidence of Splice Site DNA-Motif Associated Hotspots
(2018-02-22)Abstract: Mutations withinSTXBP1have been associated with a range of neuro developmental disorder simplicating the pleotropic impact of this gene. Although the frequency of de novo mutations withinSTXBP1for selective ... -
The Genomic Landscape of Pediatric Rheumatology Disorders in the Middle East
(2020)Abstract: Genetic investigations for patients with pediatric rheumatological disorders have been limited to classic genotyping testing, mainly MEFV hotspot mutation analysis, for periodic fever. Therefore, the landscape ... -
The genomic landscape of rare disorders in the Middle East
(2023)Background: Rare diseases collectively impose a significant burden on healthcare systems, especially in underserved regions, like the Middle East, which lack access to genomic diagnostic services and the associated ... -
Genomic medicine in the Middle East
(2021)Abstract: We discuss the current state of genomic medicine in Arab countries of the Middle East, a region with outsized contribution to Mendelian genetics due to inbreeding yet has poor representation in global variome ... -
Genomic medicine in the Middle East
(2021)Abstract: We discuss the current state of genomic medicine in Arab countries of the Middle East, a region with outsized contribution to Mendelian genetics due to inbreeding yet has poor representation in global variome ... -
Genomic, Proteomic, and Phenotypic Spectrum of Novel O-Sialoglycoprotein Endopeptidase Variant in Four Affected Individuals With Galloway-Mowat Syndrome
(2022)Introduction: Galloway-Mowat syndrome is a rare autosomal recessive disease characterized by a unique combination of renal and neurological manifestations, including early-onset steroidresistant nephrotic syndrome, ... -
Genotype-phenotype correlation identified a novel SARS-CoV-2 variant possibly linked to severe disease
(2021)Abstract: The geographic location and heterogeneous multi-ethnic population of Dubai (United Arab Emirates; UAE) provide a unique setting to explore the global molecular epidemiology of SARS-CoV-2 and relationship between ... -
Genotyping of methicillin resistant Staphylococcus aureus from the United Arab Emirates
(2020)Abstract: Reports from Arabian Gulf countries have demonstrated emergence of novel methicillin resistant Staphylococcus aureus (MRSA) strains. To address the lack of data from the United Arab Emirates (UAE), genetic ... -
Genotyping of Staphylococcus aureus associated with nasal colonization among healthcare workers using DNA microarray
(2018-05)Introduction: Healthcare workers (HCWs) colonized with Staphylococcus aureus may serve as a reservoir of infection. This study was carried to determine the genetic make-up of S. aureusnasal colonizers in HCWs. Method ... -
Geographical and temporal distribution of SARS-CoV-2 clades in the WHO European Region, January to June 2020
(2020)Abstract: We show the distribution of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) genetic clades over time and between countries and outline potential genomic surveillance objectives. We applied three ... -
Germline and somatic mutations in STXBP1 with diverse neurodevelopmental phenotypes
(2017-08-30)Objective: To expand the clinical phenotype associated with STXBP1 gene mutations and to understand the effect of STXBP1 mutations in the pathogenesis of focal cortical dysplasia (FCD). Methods: Patients with STXBP1 ...