Search Results - "John, Sumi Elsa"
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SARS-CoV-2: Possible recombination and emergence of potentially more virulent strains
Published in PloS one (25-05-2021)“…COVID-19 is challenging healthcare preparedness, world economies, and livelihoods. The infection and death rates associated with this pandemic are strikingly…”
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2
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic
Published in Scientific reports (09-08-2021)“…Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the…”
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3
Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population
Published in Journal of lipid research (01-10-2018)“…Abnormal blood lipid levels are influenced by genetic and lifestyle/dietary factors. Although many genetic variants associated with blood lipid traits have…”
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4
Genetic substructure of Kuwaiti population reveals migration history
Published in PloS one (16-09-2013)“…The State of Kuwait is characterized by settlers from Saudi Arabia, Iran, and other regions of the Arabian Peninsula. The settlements and subsequent admixtures…”
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5
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population
Published in Human genetics (01-03-2021)“…While the Arabian population has a high prevalence of metabolic disorders, it has not been included in global studies that identify genetic risk loci for…”
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6
Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families
Published in Scientific reports (11-09-2023)“…Type 1 diabetes (T1D) is characterized by the progressive destruction of pancreatic β-cells, leading to insulin deficiency and lifelong dependency on exogenous…”
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7
Differentially methylated and expressed genes in familial type 1 diabetes
Published in Scientific reports (30-06-2022)“…There has recently been a growing interest in examining the role of epigenetic modifications, such as DNA methylation, in the etiology of type 1 diabetes…”
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Genetic risk variants for metabolic traits in Arab populations
Published in Scientific reports (20-01-2017)“…Despite a high prevalence of metabolic trait related diseases in Arabian Peninsula, there is a lack of convincingly identified genetic determinants for…”
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9
Mitochondrial haplogroup R offers protection against obesity in Kuwaiti and Qatari populations
Published in Frontiers in endocrinology (Lausanne) (11-10-2024)“…The Kuwaiti and Qatari populations have a high prevalence of obesity, a major risk factor for various metabolic disorders. Previous studies have independently…”
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10
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism
Published in Frontiers in pharmacology (09-12-2020)“…COVID-19 is caused by Severe Acute Respiratory Syndrome Coronavirus-2, which has infected over thirty eight million individuals worldwide. Emerging evidence…”
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11
ONECUT1 variants beyond type 1 and type 2 diabetes: exploring clinical diversity and epigenetic associations in Arab cohorts
Published in Frontiers in genetics (24-10-2023)“…gene, encoding hepatocyte nuclear factor 6, is involved in pancreas and liver development. mutations impair the function of pancreatic β-cells and control a…”
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12
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics
Published in Scientific reports (08-11-2018)“…Consanguineous populations of the Arabian Peninsula have been underrepresented in global efforts that catalogue human exome variability. We sequenced 291 whole…”
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13
Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population
Published in Scientific reports (13-01-2020)“…Consanguineous populations of the Arabian Peninsula, which has seen an uncontrolled rise in type 2 diabetes incidence, are underrepresented in global studies…”
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14
ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19
Published in Heliyon (01-02-2021)“…The severity of the new COVID-19 pandemic caused by the SARS-CoV-2 virus is strikingly variable in different global populations. SARS-CoV-2 uses ACE2 as a cell…”
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15
Disruption in the regulation of casein kinase 2 in circadian rhythm leads to pathological states: cancer, diabetes and neurodegenerative disorders
Published in Frontiers in molecular neuroscience (05-07-2023)“…Circadian rhythm maintains the sleep-wake cycle in biological systems. Various biological activities are regulated and modulated by the circadian rhythm,…”
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16
Relevance between COVID-19 and host genetics of immune response
Published in Saudi journal of biological sciences (01-11-2021)“…The outbreak of coronavirus disease 2019 (COVID-19) was caused by the newly emerged corona virus (2019-nCoV alias SARS-CoV-2) that resembles the severe acute…”
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17
Genetic variants associated with warfarin dosage in Kuwaiti population
Published in Pharmacogenomics (01-06-2017)“…Assessing the distinct prevalence or absence of genetic variants associated with differential response to the anticoagulant medication of warfarin in different…”
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18
Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait
Published in Frontiers in genetics (11-02-2021)“…Whole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions. A limited number of…”
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19
Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait
Published in Heliyon (15-07-2024)“…Autosomal recessive polycystic kidney disease (ARPKD), a rare genetic disorder characterized by kidney cysts, shows complex clinical and genetic heterogeneity…”
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20
Kuwaiti population subgroup of nomadic Bedouin ancestry—Whole genome sequence and analysis
Published in Genomics data (01-03-2015)“…Kuwaiti native population comprises three distinct genetic subgroups of Persian, “city-dwelling” Saudi Arabian tribe, and nomadic “tent-dwelling” Bedouin…”
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