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Papers by Hassen Kacem

International Journal of Molecular Sciences

The 14-kilodalton human growth hormone (14 kDa hGH) N-terminal fragment derived from the proteoly... more The 14-kilodalton human growth hormone (14 kDa hGH) N-terminal fragment derived from the proteolytic cleavage of its full-length counterpart has been shown to sustain antiangiogenic potentials. This study investigated the antitumoral and antimetastatic effects of 14 kDa hGH on B16-F10 murine melanoma cells. B16-F10 murine melanoma cells transfected with 14 kDa hGH expression vectors showed a significant reduction in cellular proliferation and migration associated with an increase in cell apoptosis in vitro. In vivo, 14 kDa hGH mitigated tumor growth and metastasis of B16-F10 cells and was associated with a significant reduction in tumor angiogenesis. Similarly, 14 kDa hGH expression reduced human brain microvascular endothelial (HBME) cell proliferation, migration, and tube formation abilities and triggered apoptosis in vitro. The antiangiogenic effects of 14 kDa hGH on HBME cells were abolished when we stably downregulated plasminogen activator inhibitor-1 (PAI-1) expression in vit...

Journal of Endocrinology and Metabolism

Journal of Clinical Medicine

Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in t... more Background: Non-syndromic combined pituitary hormone deficiency (CPHD) occurs due to defects in transcription factors that govern early pituitary development and the specification of hormone-producing cells. The most common mutations are in the Prophet of Pit-1 (ProP1) gene. This work aims to (1) report findings of genetic analyses of Tunisian patients with non-syndromic CPHD and (2) describe their phenotype patterns and their evolution through life. Methods: Fifteen patients from twelve unrelated families with variable clinical phenotypes were included after excluding autoimmune and acquired forms of non-syndromic CPHD. Detailed pedigree charts and auxological, hormonal, radiological, and therapeutic details were recorded. Sanger sequencing was performed, and sequences were analyzed with a specific focus on coding and splice site regions of the ProP1 gene. Retained variants were classified using several in silico pathogenicity prediction tools and the VarSome platform. Results: We ...

International Food Research Journal

Industrially processed foods are composed of a complex mixture of molecules combined under specif... more Industrially processed foods are composed of a complex mixture of molecules combined under specific chemical and physical conditions. Besides their native interactions, most of the ingredients included in processed foods are highly transformed through extreme heat variations, grinding, freezing, pH, and pressure fluctuations in order to reach the desired final product. Due to their complex structure and high level of degradation, processed foods are difficult to analyse. Undeclared components are often detected in processed foods, and accurate diagnostic testing is required to protect those with health, cultural, and religious restrictions. Molecular biology techniques involving PCR are most frequently used for determining the authenticity of foods containing derivatives of living organisms. In the present work, we investigated four different DNA extraction protocols of three commercial kits, two different quantitative PCR (qPCR) techniques, and six different primer pairs. We analys...

Additional file 3. Detail of all differentially regulated genes and enriched gene ontology ontolo... more Additional file 3. Detail of all differentially regulated genes and enriched gene ontology ontologies during the differentiation. Significantly enriched GO terms generated from ClueGO plugin for both up and downregulated genes in NPCs. Details of transcription factor enrichment analysis using ChEA3.

Additional file 1: Figure S1. Representative flow cytometry analysis of Sox2 expression by MSC-de... more Additional file 1: Figure S1. Representative flow cytometry analysis of Sox2 expression by MSC-derived NPCs and MSCs in basal media. Figure S2. Representative flow cytometry analysis of Beta-3-tubulin expression of terminally differentiated NPCs into neurons.

Additional file 5. Full list of differential regulated transcription factors in MSCs-derived NPC.

Additional file 4. Detail of dataset validation using quantitative real-time PCR. The expression ... more Additional file 4. Detail of dataset validation using quantitative real-time PCR. The expression of selected genes of interest was validated using quantitative real-time PCR.

European Food Research and Technology, 2021

The traceability of meat origin has become a necessity to safeguard consumer's confidence in ... more The traceability of meat origin has become a necessity to safeguard consumer's confidence in commercial meat products. Our study recommends a meat species detection using qualitative approach based on PCR–RFLP and species-specific primers PCR. Here, we targeted a 359 bp fragment of the mitochondrial cytochrome b gene amplified by PCR using universal primers followed by three enzymatic digestions. Seven animal species including dromedary, rabbit, goat, turkey, rat, donkey and pork, have been efficiently detected in pure and mixed samples. The combination of PCR–RFLP and triplex PCR assays offers, in addition, the identification of chicken, dog and cat species in meat. In conclusion, by the mean of PCR-based techniques using universal primers followed by enzymatic digestion and multiplex primer-specific approach, we developed an extensible protocol by which we identified 10 animal species that could be integrated in meat analysis daily routine.

Cell & Bioscience, 2020

Introduction Mesenchymal stem cells (MSCs) isolated from bone marrow have different developmental... more Introduction Mesenchymal stem cells (MSCs) isolated from bone marrow have different developmental origins, including neural crest. MSCs can differentiate into neural progenitor-like cells (NPCs) under the influence of bFGF and EGF. NPCs can terminally differentiate into neurons that express beta-III-tubulin and elicit action potential. The main aim of the study was to identify key genetic markers involved in differentiation of MSCs into NPCs through transcriptomic analysis. Method Total RNA was isolated from MSCs and MSCs-derived NPCs followed by cDNA library construction for transcriptomic analysis. Sample libraries that passed the quality and quantity assessments were subjected to high throughput mRNA sequencing using NextSeq®500. Differential gene expression analysis was performed using the DESeq2 R package with MSC samples being a reference group. The expression of eight differentially regulated genes was counter validated using real-time PCR. Results In total, of the 3,252 diff...

Frontiers in Endocrinology, 2021

Introduction/AimsMaturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabet... more Introduction/AimsMaturity-Onset Diabetes of the Young (MODY) is a monogenic non-autoimmune diabetes with 14 different genetic forms. MODY-related mutations are rarely found in the Tunisian population. Here, we explored MODY related genes sequences among seventeen unrelated Tunisian probands qualifying the MODY clinical criteria.Materials and MethodsThe GCK and HNF1A genes were systematically analyzed by direct sequencing in all probands. Then, clinical exome sequencing of 4,813 genes was performed on three unrelated patients. Among them, 130 genes have been reported to be involved in the regulation of glucose metabolism, β-cell development, differentiation and function. All identified variants were analyzed according to their frequencies in the GnomAD database and validated by direct sequencing.ResultsWe identified the previously reported GCK mutation (rs1085307455) in one patient. The clinical features of the MODY2 proband were similar to previous reports. In this study, we reveale...

Journal of Assisted Reproduction and Genetics, 2019

International Journal of Food Properties, 2018

Genetic Testing and Molecular Biomarkers, 2017

AIM Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of no... more AIM Mutations in the gap junction protein beta 2 (GJB2) gene are responsible for more cases of nonsyndromic recessive hearing loss than any other gene. The purpose of our study was to evaluate the prevalence of GJB2 mutations among affected individuals from United Arab Emirates (UAE). METHODS There were 50 individuals diagnosed with hereditary hearing loss and 120 healthy individuals enrolled in the study. The Sanger sequencing method was used to screen the GJB2 coding region in all affected individuals. The c.-1G>A variant was determined by the polymerase chain reaction-restriction fragment length polymorphism method in normal individuals. RESULTS AND DISCUSSION Nine cases with bi-allelic mutations and three cases with mono-allelic mutations were detected in 12 out of 50 patients (24%). The homozygous mutation c.35delG was identified as the cause of hearing loss in six participants (12%). The mutation c.506G>A was identified in three affected individuals (6%). The allelic frequency (14%) and low percentage of individuals that were homozygous (2%) for the c.35delG mutation suggest that there are other genes responsible for nonsyndromic deafness in the UAE population. The results reported here are a preliminary step in collecting epidemiological data regarding autosomal recessive nonsyndromic hearing loss related to GJB2 gene mutations among the UAE population. CONCLUSION The c.35delG mutation of the GJB2 gene is the most frequently seen causative mutation in the UAE and is followed by the p.Cys169Tyr mutation.

Cancer biomarkers : section A of Disease markers

FOXE1 polyalanine tract (poly-Ala) has been associated with thyroid dysgenesis. Recently, the SNP... more FOXE1 polyalanine tract (poly-Ala) has been associated with thyroid dysgenesis. Recently, the SNP (rs1867277:-238G>A) within the FOXE1 5'UTR was involved in the genetic susceptibility to thyroid cancer (TC). In the aim to assess the influence of FOXE1 poly-Ala length on the genetic susceptibility to TC and autoimmune thyroid diseases (AITD), a case-control design (including 261 Tunisian AITD, 170 Spanish TC and respectively 171 and 218 matched healthy subjects) was performed. The effect of Ala length and rs1867277 alleles on FOXE1 expression was investigated by mRNA relative real time quantification on 8 papillary thyroid carcinoma (PTC) and 10 Graves' disease (GD) genotyped thyroid biopsies. The fluorescent genotyping of poly-Ala polymorphism revealed nine alleles (from 12 to 22 repetitions). The association of poly-Ala polymorphism with AITD was rejected (Pc>0.05). However, a significant association was found with TC. In addition, the genotypic distributions revealed...

Clinical laboratory, 2010

We previously demonstrated that the PDS gene is involved in the genetic susceptibility to autoimm... more We previously demonstrated that the PDS gene is involved in the genetic susceptibility to autoimmune thyroid diseases (AITD) in Tunisia. In the same population, we now investigated the presence of anti-pendrin auto-antibodies (aAbs) in AITD patients' sera. Thirty seven Tunisian AITD patients and 19 healthy subjects from families previously linked to the PDS gene, 75 unrelated patients and 20 healthy unrelated subjects were included in our study. The detection of anti-pendrin aAbs in patients' sera was performed by ELISA using membrane protein extracts of CHO cells expressing pendrin (CHO-hPDS) and by immunofluorescence using transient COS-7 cells expressing a GFP tagged pendrin. CHO cells transfected with human TPO in the same ELISA conditions were used as positive control. The majority of AITD patients' sera were positive for the presence of anti-TPO aAbs. In contrast, no reactivity was detected with CHO-hPDS membrane protein extracts. Likewise, no significant immunosta...

La Revue de Médecine Interne, 2010