Search Results - "Kefi, Rym"
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Genetic diversity of variants involved in drug response among Tunisian and Italian populations toward personalized medicine
Published in Scientific reports (10-03-2024)“…Adverse drug reactions (ADR) represent a significant contributor to morbidity and mortality, imposing a substantial financial burden. Genetic ancestry plays a…”
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Pharmacogenetic landscape of pain management variants among Mediterranean populations
Published in Frontiers in pharmacology (15-05-2024)“…Chronic pain is a major socioeconomic burden in the Mediterranean region. However, we noticed an under-representation of these populations in the…”
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Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa
Published in Frontiers in aging neuroscience (05-06-2023)“…Alzheimer's disease (AD) and Type 2 diabetes (T2D) are both age-associated diseases. Identification of shared genes could help develop early diagnosis and…”
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Founder mutations in Tunisia: implications for diagnosis in North Africa and Middle East
Published in Orphanet journal of rare diseases (21-08-2012)“…Tunisia is a North African country of 10 million inhabitants. The native background population is Berber. However, throughout its history, Tunisia has been the…”
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The Role of Dietary Intake in Type 2 Diabetes Mellitus: Importance of Macro and Micronutrients in Glucose Homeostasis
Published in Nutrients (20-05-2022)“…The prevalence of Type 2 diabetes (T2D) is increasing worldwide. Genetics and lifestyle, especially diet, are contributing factors. Analyses of macro- and…”
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Prevalence and risk factors of diabetes mellitus and hypertension in North East Tunisia calling for efficient and effective actions
Published in Scientific reports (05-08-2023)“…Diabetes and hypertension are a serious public health problem worldwide. In the last decades, prevalence of these two metabolic diseases has dramatically…”
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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
Published in Frontiers in genetics (12-01-2024)“…Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a…”
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Pharmacogenetic landscape of Metabolic Syndrome components drug response in Tunisia and comparison with worldwide populations
Published in PloS one (13-04-2018)“…Genetic variation is an important determinant affecting either drug response or susceptibility to adverse drug reactions. Several studies have highlighted the…”
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Alpha-mannosidosis in Tunisian consanguineous families: Potential involvement of variants in GHR and SLC19A3 genes in the variable expressivity of cognitive impairment
Published in PloS one (06-10-2021)“…Alpha-Mannosidosis (AM) is an ultra-rare storage disorder caused by a deficiency of lysosomal alpha-mannosidase encoded by the MAN2B1 gene. Clinical…”
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10
Multiallelic Rare Variants in BBS Genes Support an Oligogenic Ciliopathy in a Non-obese Juvenile-Onset Syndromic Diabetic Patient: A Case Report
Published in Frontiers in genetics (06-10-2021)“…Juvenile-onset diabetes may occur in the context of a rare syndromic presentation, suggesting a monogenic etiology rather than a common multifactorial…”
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The first exome wide association study in Tunisia: identification of candidate loci and pathways with biological relevance for type 2 diabetes
Published in Frontiers in endocrinology (Lausanne) (19-12-2023)“…Type 2 diabetes (T2D) is a multifactorial disease involving genetic and environmental components. Several genome-wide association studies (GWAS) have been…”
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Molecular Epidemiology of SARS-CoV-2 in Tunisia (North Africa) through Several Successive Waves of COVID-19
Published in Viruses (17-03-2022)“…Documenting the circulation dynamics of SARS-CoV-2 variants in different regions of the world is crucial for monitoring virus transmission worldwide and…”
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Whole-exome sequencing reveals novel variants of monogenic diabetes in Tunisia: impact on diagnosis and healthcare management
Published in Frontiers in genetics (2023)“…Monogenic diabetes (MD) accounts for 3%-6% of all cases of diabetes. This prevalence is underestimated due to its overlapping clinical features with type 1 and…”
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A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa
Published in Npj genomic medicine (08-01-2021)“…Copy number variation (CNV) is considered as the most frequent type of structural variation in the human genome. Some CNVs can act on human phenotype…”
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Association of HNF1A gene variants and haplotypes with metabolic syndrome: a case-control study in the Tunisian population and a meta-analysis
Published in Diabetology and metabolic syndrome (02-02-2022)“…Variants in the Hepatocyte Nuclear Factor 1 Alpha gene (HNF1A) are associated with lipoproteins levels and type 2 diabetes. In this study, we aimed to assess…”
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Using KASP technique to screen LRRK2 G2019S mutation in a large Tunisian cohort
Published in BMC medical genetics (06-07-2017)“…In North African populations, G2019S mutation in LRRK2 gene, encoding for the leucine-rich repeat kinase 2, is the most prevalent mutation linked to familial…”
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Association Analysis of IGF2BP2, KCNJ11, and CDKAL1 Polymorphisms with Type 2 Diabetes Mellitus in a Moroccan Population: A Case–Control Study and Meta-analysis
Published in Biochemical genetics (01-10-2014)“…Associations with type 2 diabetes mellitus have been identified for variants CDKAL1 rs7756992, KCNJ11 rs5219, and IGF2BP2 rs4402960 in different populations…”
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Genetic characterization of suspected MODY patients in Tunisia by targeted next-generation sequencing
Published in Acta diabetologica (09-05-2019)“…Aims Maturity Onset Diabetes of the Young (MODY) is a monogenic form of diabetes with autosomal dominant inheritance pattern. The diagnosis of MODY and its…”
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Mitochondrial DNA structure of an isolated Tunisian Berber population and its relationship with Mediterranean populations
Published in Annals of human biology (01-02-2018)“…Background: Douiret is an isolated Berber population from South-Eastern Tunisia. The strong geographic and cultural isolation characterising this population…”
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Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness
Published in PloS one (13-06-2014)“…Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms), is demanding due to genetic…”
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