Sumi Elsa John
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View article: Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors
Genetic insights into MIS-C Post-COVID-19 in Kuwaiti children: investigating monogenic factors Open
Background Multisystem inflammatory syndrome in children (MIS-C) is a severe complication arising from SARS-CoV-2 infection, with indications that rare inborn errors of immunity may play a role in its pathogenesis. Recent studies suggest t…
View article: Association of mitochondrial haplogroup H with reduced risk of type 2 Diabetes among Gulf Region Arabs
Association of mitochondrial haplogroup H with reduced risk of type 2 Diabetes among Gulf Region Arabs Open
Background Numerous studies have linked mitochondrial dysfunction to the development of type 2 diabetes (T2D) by affecting glucose-stimulated insulin secretion in pancreatic beta cells and reducing oxidative phosphorylation in insulin-resp…
View article: Complex p53 dynamics regulated by miR-125b in cellular responses to reactive oxidative stress and DNA damage
Complex p53 dynamics regulated by miR-125b in cellular responses to reactive oxidative stress and DNA damage Open
In response to distinct cellular stresses, the p53 exhibits distinct dynamics. These p53 dynamics subsequently control cell fate. However, different stresses can generate the same p53 dynamics with different cell fate outcomes, suggesting …
View article: Mitochondrial haplogroup R offers protection against obesity in Kuwaiti and Qatari populations
Mitochondrial haplogroup R offers protection against obesity in Kuwaiti and Qatari populations Open
Background The Kuwaiti and Qatari populations have a high prevalence of obesity, a major risk factor for various metabolic disorders. Previous studies have independently explored mitochondrial DNA (mtDNA) variations and their association w…
View article: Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait
Genetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait Open
This study highlights the spectrum of clinical features and genetic mutations of patients with ARPKD in Kuwait. It highlights the necessity for personalized approaches to improve ARPKD diagnosis and treatment, offering crucial insights int…
View article: Unraveling Verapamil’s Multidimensional Role in Diabetes Therapy: From β-Cell Regeneration to Cholecystokinin Induction in Zebrafish and MIN6 Cell-Line Models
Unraveling Verapamil’s Multidimensional Role in Diabetes Therapy: From β-Cell Regeneration to Cholecystokinin Induction in Zebrafish and MIN6 Cell-Line Models Open
This study unveils verapamil’s compelling cytoprotective and proliferative effects on pancreatic β-cells amidst diabetic stressors, spotlighting its unforeseen role in augmenting cholecystokinin (CCK) expression. Through rigorous investiga…
View article: Unraveling Verapamil's Multidimensional Role in Diabetes Therapy: From β-Cell Regeneration to Cholecystokinin Induction
Unraveling Verapamil's Multidimensional Role in Diabetes Therapy: From β-Cell Regeneration to Cholecystokinin Induction Open
This study unveils verapamil's compelling cytoprotective and proliferative effects on pancreatic β-cells amidst diabetic stressors, spotlighting its unforeseen role in augmenting cholecystokinin (CCK) expression. Through rigorous inve…
View article: Glucose intolerance induces anxiety-like behaviors independent of obesity and insulin resistance in a novel model of nutritional metabolic stress
Glucose intolerance induces anxiety-like behaviors independent of obesity and insulin resistance in a novel model of nutritional metabolic stress Open
Our findings demonstrate that glucose intolerance alone can elicit anxiety-like behavior. Through this study, we also provide a novel nutritional model (P-HFD) to characterize the discrete effects of glucose intolerance on cognition, behav…
View article: ONECUT1 variants beyond type 1 and type 2 diabetes: exploring clinical diversity and epigenetic associations in Arab cohorts
ONECUT1 variants beyond type 1 and type 2 diabetes: exploring clinical diversity and epigenetic associations in Arab cohorts Open
ONECUT1 gene, encoding hepatocyte nuclear factor 6, is involved in pancreas and liver development. ONECUT1 mutations impair the function of pancreatic β-cells and control a transcriptional/epigenetic machinery regulating endocrine developm…
View article: Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families
Linkage analysis using whole exome sequencing data implicates SLC17A1, SLC17A3, TATDN2 and TMEM131L in type 1 diabetes in Kuwaiti families Open
Type 1 diabetes (T1D) is characterized by the progressive destruction of pancreatic β-cells, leading to insulin deficiency and lifelong dependency on exogenous insulin. Higher estimates of heritability rates in monozygotic twins, followed …
View article: Glucose intolerance induces anxiety-like behaviors independent of obesity and insulin resistance in a novel model of nutritional metabolic stress
Glucose intolerance induces anxiety-like behaviors independent of obesity and insulin resistance in a novel model of nutritional metabolic stress Open
Type 2 diabetes (T2D) and its comorbidities are a major public health concern. In addition to peripheral tissues, T2D also impacts the central nervous system leading to neurocognitive impairments, including memory deficits, anxiety, and de…
View article: Disruption in the regulation of casein kinase 2 in circadian rhythm leads to pathological states: cancer, diabetes and neurodegenerative disorders
Disruption in the regulation of casein kinase 2 in circadian rhythm leads to pathological states: cancer, diabetes and neurodegenerative disorders Open
Introduction Circadian rhythm maintains the sleep–wake cycle in biological systems. Various biological activities are regulated and modulated by the circadian rhythm, disruption of which can result in onset of diseases. Robust rhythms of p…
View article: The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait
The genetic landscape of autosomal dominant polycystic kidney disease in Kuwait Open
Background Autosomal dominant polycystic kidney disease (ADPKD) is the most common renal monogenic disease, characterized by bilateral accumulation of renal fluid-filled cysts leading to progressive renal volume enlargement and gradual imp…
View article: Differentially methylated and expressed genes in familial type 1 diabetes
Differentially methylated and expressed genes in familial type 1 diabetes Open
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 (T1D). This study aimed to delineate differences in methylation patterns between T1D-…
View article: ICA1 is differentially methylated and expressed in familial type 1 diabetes
ICA1 is differentially methylated and expressed in familial type 1 diabetes Open
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 (T1D). This study aimed to delineate differences in methylation patterns between T1D-…
View article: Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic
Identification of Maturity-Onset-Diabetes of the Young (MODY) mutations in a country where diabetes is endemic Open
Genetic variants responsible for Maturity-Onset-Diabetes of the Young (MODY) in Kuwait were investigated. A newly established a National Referral Clinic, the Dasman Diabetes Institute (DDI-NRC), assessed forty-five members from 31 suspecte…
View article: Relevance between COVID-19 and host genetics of immune response
Relevance between COVID-19 and host genetics of immune response Open
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 respiratory syndrome virus (SARS-CoV). SARS-CoV-2, which was first identif…
View article: SARS-CoV-2: Possible recombination and emergence of potentially more virulent strains
SARS-CoV-2: Possible recombination and emergence of potentially more virulent strains Open
COVID-19 is challenging healthcare preparedness, world economies, and livelihoods. The infection and death rates associated with this pandemic are strikingly variable in different countries. To elucidate this discrepancy, we analyzed 2431 …
View article: PharmaKU: A Web-Based Tool Aimed at Improving Outreach and Clinical Utility of Pharmacogenomics
PharmaKU: A Web-Based Tool Aimed at Improving Outreach and Clinical Utility of Pharmacogenomics Open
With the tremendous advancements in genome sequencing technology in the field of pharmacogenomics, data have to be made accessible to be more efficiently utilized by broader clinical disciplines. Physicians who require the drug–genome inte…
View article: Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait
Delineation of Mitochondrial DNA Variants From Exome Sequencing Data and Association of Haplogroups With Obesity in Kuwait Open
Background/Objectives Whole-exome sequencing is a valuable tool to determine genetic variations that are associated with rare and common health conditions. A limited number of studies demonstrated that mitochondrial DNA can be captured usi…
View article: ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19
ACE2 and FURIN variants are potential predictors of SARS-CoV-2 outcome: A time to implement precision medicine against COVID-19 Open
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 receptor, TMPRSS2 protease, and FURIN peptidase to invade …
View article: Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism
Prognostic Genetic Markers for Thrombosis in COVID-19 Patients: A Focused Analysis on D-Dimer, Homocysteine and Thromboembolism Open
COVID-19 is caused by Severe Acute Respiratory Syndrome Coronavirus-2, which has infected over thirty eight million individuals worldwide. Emerging evidence indicates that COVID-19 patients are at a high risk of developing coagulopathy and…
View article: SARS-CoV-2: Proof of recombination between strains and emergence of possibly more virulent ones
SARS-CoV-2: Proof of recombination between strains and emergence of possibly more virulent ones Open
COVID-19 is challenging healthcare preparedness, world economies, and livelihoods. The infection and death rates associated with this pandemic are strikingly variable in different countries. To elucidate this discrepancy, we analyzed 2431 …
View article: Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population
Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population Open
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 metabolic traits. Determining the transferability of such largely Euro-centric establ…
View article: A comprehensive germline variant and expression analyses of<i>ACE2</i>,<i>TMPRSS2</i>and SARS-CoV-2 activator<i>FURIN</i>genes from the Middle East: Combating SARS-CoV-2 with precision medicine
A comprehensive germline variant and expression analyses of<i>ACE2</i>,<i>TMPRSS2</i>and SARS-CoV-2 activator<i>FURIN</i>genes from the Middle East: Combating SARS-CoV-2 with precision medicine Open
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 receptor, TMPRSS2 protease, and FURIN peptidase to invade human cells. Here, we…
View article: Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population
Genome-wide association study identifies novel risk variants from RPS6KA1, CADPS, VARS, and DHX58 for fasting plasma glucose in Arab population Open
View article: Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics
Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics Open
Consanguineous populations of the Arabian Peninsula have been underrepresented in global efforts that catalogue human exome variability. We sequenced 291 whole exomes of unrelated, healthy native Arab individuals from Kuwait to a median co…
View article: Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population
Genome-wide association study identifies novel recessive genetic variants for high TGs in an Arab population Open
View article: Genetic risk variants for metabolic traits in Arab populations
Genetic risk variants for metabolic traits in Arab populations Open
View article: Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry Open