A5016643923- Estrogen and related hormone effects
- Cardiovascular Disease and Adiposity
- RNA modifications and cancer
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Hearing, Cochlea, Tinnitus, Genetics
- SARS-CoV-2 and COVID-19 Research
- Cancer-related molecular mechanisms research
- MicroRNA in disease regulation
- COVID-19 Clinical Research Studies
- Cardiovascular Health and Disease Prevention
- Congenital heart defects research
- Bone Metabolism and Diseases
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Bone Tissue Engineering Materials
- Pediatric health and respiratory diseases
- NF-κB Signaling Pathways
- Ear Surgery and Otitis Media
- Long-Term Effects of COVID-19
- Biomarkers in Disease Mechanisms
- Oral microbiology and periodontitis research
- Cytokine Signaling Pathways and Interactions
- Vitamin D Research Studies
- Oropharyngeal Anatomy and Pathologies
University of Sharjah
2021-2025
Centre of Biotechnology of Sfax
2017-2025
University of Sfax
2017-2023
Investment in severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) sequencing Africa over the past year has led to a major increase number of sequences that have been generated and used track pandemic on continent, now exceeds 100,000 genomes. Our results show an African countries are able sequence domestically highlight local enables faster turnaround times more-regular routine surveillance. Despite limitations low testing proportions, findings from this genomic surveillance study...
Vitamin D3 deficiency, obesity, and diabetes mellitus (DM) have been shown to increase the risk of cardiovascular diseases (CVDs). However, early detection vascular damage in those patients is still difficult ascertain. MicroRNAs (miRNAs) are recognized play a critical role initiation pathogenesis dysfunction. Herein, we aimed identify circulating miRNA biomarkers dysfunction as predictors CVDs. We recruited 23 middle-aged Emiratis with following criteria: A healthy control group vitamin D ≥...
The Cell Division-Cycle-14 gene encodes a dual-specificity phosphatase necessary in yeast for exit from mitosis. Numerous disparate roles of vertebrate (CDC14A) have been proposed largely based on studies cultured cancer cells vitro. vivo functions CDC14A are unknown. We generated and analyzed mutations zebrafish mouse CDC14A, developed computational structural model human protein report four novel truncating three missense alleles families segregating progressive, moderate-to-profound...
Titanium dental implants are one of the modalities to replace missing teeth. The release titanium particles from implant's surface may modulate immune cells, resulting in implant failure. However, little is known about microenvironment that plays a role peri-implant inflammation as consequence particles. In this study, gingival tissues were collected patients with failed implants, successful and no then whole transcriptome analysis was performed. gene set enrichment confirmed macrophage...
Developmental language disorder (DLD) is a neurodevelopmental involving impaired abilities. Its genetic etiology heterogeneous, rare variations in multiple susceptibility loci. However, family-based studies on gene mutations are scarce. We performed whole-exome sequencing (WES) of first-time-described Tunisian-family with DLD. Analyses segregation patterns stringent filtering the exome data identified disease-causing compound heterozygous variants. In MRNIP gene, two variants were detected...
<title>Abstract</title> Although contextual variables have a considerable impact on linguistic ability, the effect of genetic factors, especially those linked to memory function, remains poorly understood. The aim this study was establish relationship between genetically determined capacity and self-reported foreign language proficiency in 129 children (63 males, 66 females, age 14.2 ± 3.9) 128 adults (90 38 29.8 8.2). Seven single nucleotide polymorphisms (SNPs) previously with function...
Background/Objectives: RNA-modifying proteins play a crucial role in the progression of cancer. The fat mass and obesity-associated protein (FTO) alkB homolog 5 RNA demethylase (ALKBH5) are RNA-demethylating that have contrasting effects renal cell carcinoma (RCC) among different populations. This research investigates genotype expression levels FTO ALKBH5 RCC patients from Middle East Northern Africa (MENA) region. Methods: Formalin-fixed paraffin-embedded samples kidney biopsies controls...
Presbycusis, an age-related hearing impairment (ARHI), represents the most common sensory disability in adults. Today, molecular mechanisms underlying presbycusis remain unclear. This is particular due to fact that ARHI a multifactorial complex disorder resulting from several genomic factors interacting with lifelong cumulative effects of: disease, diet, and environment.Identification of novel biomarkers for presbycusis.We selectively ascertained 18 elderly unrelated women lacking...
Introduction: Presbycusis, an age-related hearing impairment (ARHI) disease, is the most common cause for HI in adults worldwide. One of best candidate genes ARHI susceptibility Cadherin 23 (CDH23) which encodes stereocilia tip-links inner ear sensory hair cell. Although alterations methylation status CpG dinucleotides across various were reported to be associated with HI, changes CDH23 gene have not been previously. Objectives: This study aimed at investigating whether DNA level intragenic...
Hearing impairment (HI) is characterized by complex genetic heterogeneity. The evolution of next generation sequencing, including targeted enrichment panels, has revolutionized HI diagnosis. In this study, we investigated causes in 22 individuals with non-GJB2 HI. We customized a HaloplexHS kit to include 30 genes known be associated autosomal recessive nonsyndromic (ARNSHI) and Usher syndrome North Africa. accordance the ACMG/AMP guidelines, report 11 pathogenic variants; as follows; five...
Pathogenic variants in Steroid 5 alpha reductase type 3 (SRD5A3) cause rare inherited congenital disorder of glycosylation known as SRD5A3-CDG (MIM# 612379). To date, 43 affected individuals have been reported. Despite the development various dysmorphic features significant number patients, facial recognition entity has not yet established for SRD5A3-CDG. Herein, we reported a novel SRD5A3 missense pathogenic variant c.460 T > C p.(Ser154Pro). The 3D structural modeling protein revealed...
A strong association between obesity and COVID-19 complications a lack of prognostic factors that explain the unpredictable severity among these patients still exist despite various vaccination programs. The expression angiotensin converting enzyme 2 (ACE2), main receptor for severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2), is enhanced in obese individuals. occurrence frequent genetic single nucleotide polymorphisms (SNPs) ACE2 suggested to increase severity. Accordingly, we...
Major depressive disorder (MDD) is a common mental and amongst the most prevalent psychiatric disorders. MDD remains challenging to diagnose predict its onset due heterogeneous phenotype complex etiology. Hence, early detection using diagnostic biomarkers critical for rapid intervention. In this study, mixture of AI bioinformatics were used mine transcriptomic data from publicly available datasets including 170 patients 121 healthy controls. Bioinformatics analysis gene set enrichment (GSEA)...
Intellectual disability is a form of neurodevelopmental disorders that begin in childhood and characterized by substantial intellectual difficulties as well conceptual, social, practical areas living. Several genetic nongenetic factors contribute to its development; however, most severe forms are generally attributed single-gene defects. High-throughput technologies data sharing contributed the diagnosis hundreds subtypes.We applied exome sequencing identify potential variants causing...
Background: Otosclerosis (OTSC) is a genetically heterogeneous disorder, characterized by abnormal bone growth in the middle ear, affecting stapes bone. Previous studies have shown that single nucleotide polymorphisms (SNPs) of COL1A1, BMP2, and BMP4 genes are linked to susceptibility OTSC, musculoskeletal degenerative diseases, remodeling. Aims: To evaluate genetic association expression levels with OTSC Indian population. Methods: A total 320 otosclerotic control samples were screened for...
Pathogenic germline variants in the PIGT gene are associated with “multiple congenital anomalies–hypotonia-seizures syndrome 3” (MCAHS3) phenotype. So far, fifty patients have been reported, most of whom suffer from intractable epilepsy. Recently, a comprehensive analysis cohort 26 has broadened phenotypical spectrum and indicated that both p.Asn527Ser p.Val528Met milder epilepsy phenotype less severe outcomes. Since all reported Caucasian/Polish origin harbor same variant (p.Val528Met),...
The osteoclastogenesis RANKL gene plays a key role in bone remodeling. hypomethylation of its promoter region may cause osteoporosis. present study aimed to elucidate the influence physical activity on DNA methylation changes cytosine-phosphate-guanine (CpG)-rich active and sedentary adults assess effect aerobic strength training among Tunisian-North African adults.A total 104 participants including 52 (58% males 42% females) (31% 69% were recruited for observational interventional part...
Colorectal cancer (CRC) remains the third most common cause of mortality worldwide. Precision medicine using OMICs guided by transcriptomic profiling has improved disease diagnosis and prognosis identifying many CRC targets. One such target that been actively pursued is an erbb2 receptor tyrosine kinase 2 (ERBB2) (Human Epidermal Growth Factor Receptor (HER2)), which overexpressed in around 3-5% patients with Despite targeted therapies against HER2 showing significant improvement outcomes...
Abstract Background 8q21.11 microdeletion syndrome is a rare chromosomal disorder characterized by recurrent dysmorphic features, variable degree of intellectual disability and ocular, cardiac hand/feet abnormalities. To date, ZFHX4 the only candidate gene implicated in ocular findings. In this study, we evaluated patient with de novo 8q21.13–21.3 deletion to define new small region overlap (SRO) for entity. Methods We conducted clinical evaluation comparative genomic hybridization (CGH)...
Head and neck cancer (HNC) is a highly prevalent heterogeneous malignancy. Although extensive efforts have been made to advance its treatment, the prognosis remained poor with increased mortality. Human papillomaviruses (HPV) associated high risk in HNC. TP53, tumor suppressor, most frequently altered gene HNC, therefore, investigating target genes for identification of novel biomarkers or therapeutic targets HPV-related HNC progression recommended.Transcriptomic profiles from three...