A5049291834- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- ATP Synthase and ATPases Research
- Adrenal and Paraganglionic Tumors
- Cancer, Hypoxia, and Metabolism
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- Autophagy in Disease and Therapy
- Peroxisome Proliferator-Activated Receptors
- Glioma Diagnosis and Treatment
- Pituitary Gland Disorders and Treatments
- Endoplasmic Reticulum Stress and Disease
- Effects of Radiation Exposure
- Glutathione Transferases and Polymorphisms
- BRCA gene mutations in cancer
- Pediatric Hepatobiliary Diseases and Treatments
- Diet and metabolism studies
- Genetic factors in colorectal cancer
- Genomics, phytochemicals, and oxidative stress
- Hepatitis B Virus Studies
- Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Histone Deacetylase Inhibitors Research
- Cell death mechanisms and regulation
- Hormonal Regulation and Hypertension
- Genetic and Kidney Cyst Diseases
Linköping University
2018-2025
University of Sfax
2015-2021
Difficult-to-heal wounds management accounts for about 4% of healthcare costs, highlighting the need innovative solutions. Extracellular signals drive cell proliferation during tissue regeneration, while epigenetic mechanisms regulate stem homeostasis, differentiation, and skin repair. Exploring regulation in adipose-derived cells (ADSCs) holds promise improving injury treatments. We investigated effects histone deacetylase inhibitor (SAHA) on ADSCs to better understand its cellular...
Background: Enzymes of tricarboxylic acid (TCA) have recently been recognized as tumor suppressors. Mutations in the SDHB subunit succinate dehydrogenase (SDH) cause pheochromocytomas and paragangliomas (PCCs/PGLs) predispose patients to malignant disease with poor prognosis. Methods: Using human pheochromocytoma cell line (hPheo1), we knocked down gene expression using CRISPR-cas9 technology. Results: Microarray analysis showed that >500 differentially expressed targets, about 54%, were...
Ionizing radiation (IR) is considered as a diagnostic and therapeutic tool in medicine. However, chronic occupational exposure of medical staff to IR may affect the antioxidant status and, result, DNA damage cancers well. The objective our study was evaluate oxidative stress profile caused by 29 Tunisian from radiology radiotherapy departments, find an association between GSTM1 null, GSTT1 GSTP1 Ile105Val polymorphisms biomarkers.The oxidant biomarkers malondialdehyde (MDA) advanced...
Uridine diphosphate-glucuronosyl transferase 1A1 (UGT1A1), which is the major UGT1 gene product, located on chromosome 2q37. The expression of UGT1A1 relatively managed by a polymorphic dinucleotide repeat inside promoter TATA box consisting 5-8 copies TA repeat. A (TA) 6TAA considered as wild type. 7TAA allele has been identified most frequent in Caucasian populations while 8TAA remains rarest worldwide North Africa, including Arab populations.The spectrum genetic mutations seventeen...
Pathogenic mitochondrial DNA (mtDNA) mutations leading to dysfunction can cause cardiomyopathy and heart failure. These were described in the mt-tRNA genes protein-coding genes. The aim of this study was identify genetic defect two patients belonging families with cardiac associated a wide spectrum clinical phenotypes. sequencing analysis whole their parents revealed presence known polymorphisms pathogenic extracted from blood leucocytes: heteroplasmic m.3243A > G mutation MT-TL1 gene...
Somatic mutations, copy-number variations, and genome instability of mitochondrial DNA (mtDNA) have been reported in different types cancers are suggested to play important roles cancer development metastasis. However, there is scarce information about pheochromocytomas paragangliomas (PCCs/PGLs) formation. To determine the potential mtDNA alterations sporadic PCCs/PGLs, we analyzed a panel 26 nuclear susceptibility genes entire sequence seventy-seven human tumors, using next-generation...
Pheochromocytoma and paraganglioma (PPGL), are rare neuroendocrine tumors arising from the adrenal medulla extra-adrenal paraganglia, respectively. Up to about 60% explained by germline or somatic mutations in one of major known susceptibility genes e.g., NF1, RET, VHL, SDHx, MAX HRAS. Targeted Next Generation Sequencing was performed 14 sporadic using a panel including 26 characterize mutation profile. A total 6 8 variants were identified. The most frequent found NF1 (36%), four have not...
Mitochondrial diabetes (MD) is a rare monogenic form of and divided into type l 2. It characterized by strong familial clustering with the presence maternal transmission in conjunction bilateral hearing impairment most carriers. The common MD associated m.3243A>G mutation mitochondrial MT-TL1, but there are also association range other point mutations, deletion, depletion mtDNA.The genome anomalies were investigated family clinical features MD, which includes proband presenting severe...
Genetic testing has become the standard of care for many disease states. As a result, physicians treating patients who have tumors often rely on germline genetic results making clinical decisions. Cases two sisters carrying CHEK2 variant are highlighted whereby possible other drivers were discovered tumor analysis . (also referred to as CHK2) loss function been firmly associated with breast cancer development. In this case report, siblings mutation also had distinct endocrine tumors....
X-linked adrenoleukodystrophy (X-ALD) is a neurodegenerative disorder caused by mutations in the ABCD1 gene, which encodes an ATP-binding cassette transporter protein, ALDP. The disease characterized increased concentrations of very long chain fatty acids (VLCFAs) plasma, adrenal, testicular, and nerve tissues. For this study, our objective was to conduct clinical, molecular, genetic studies Tunisian patient with X-ALD. diagnosis based on clinical indications, biochemical analyses, typical...