19 Result(s)
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Article
Fanconi anemia in Tunisia: high prevalence of group A and identification of new FANCA mutations
Fanconi anemia (FA) is a rare autosomal recessive disease characterized by progressive pancytopenia, congenital malformations, and predisposition to acute myeloid leukemia. Fanconi anemia is genetically hetero...
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Article
Herpes simplex virus thymidine kinase gene transduction enhances tumor growth rate and cyclooxygenase-2 expression in murine colon cancer cells
Transduction of tumor cells with herpes simplex virus thymidine kinase (HSV-tk) gene and subsequent treatment with the prodrug ganciclovir (GCV) is the most common system utilized to date for “suicide” gene th...
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Article
Selective gene transfer in vitro to tumor cells via recombinant Newcastle disease virus
We developed a novel strategy to target recombinant Newcastle disease virus (NDV) to tumor cells for gene therapy. Modifying the virus with a bispecific fusion protein allowed virus receptor-independent tumor ...
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Article
A single nucleotide substitution that abolishes the initiator methionine codon of the GLDC gene is prevalent among patients with glycine encephalopathy in Jerusalem
Glycine encephalopathy (GE) (non-ketotic hyperglycinemia) is an autosomal recessive neurometabolic disease caused by defective activity of the glycine cleavage system. Clinically, patients present usually in t...
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Article
Fragile sites are preferential targets for integrations of MLV vectors in gene therapy
Following gene therapy of SCID-X1 using murine leukemia virus (MLV) derived vector, two patients developed leukemia owing to an activating vector integration near the LMO2 gene. We found that these integrations r...
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Article
Further evidence of the clinical and genetic heterogeneity of recessive transgressive PPK in the Mediterranean region
Transgressive palmoplantar keratoderma (PPK) is the phenotypic hallmark of Mal de Meleda (MDM, MIM 24300). It is characterized by erythema and hyperkeratosis that extend to the dorsal face of the hands and fee...
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Erratum: Fragile sites are preferential targets for integrations of MLV vectors in gene therapy
Correction to: Gene Therapy (2006) 13, 1057–1059. doi:10.1038/sj.gt.3302752 Since the above publication the authors have noticed an error in the first DNA marker of FRA11E in Supplementary Table 1S. The correc...
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Article
Contribution of the BRCA1 and BRCA2 mutations to breast cancer in Tunisia
Hereditary breast cancer accounts for 3–8% of all breast cancers, with mutations in the BRCA1 and BRCA2 genes responsible for up to 30% of these. To investigate the prevalence of BRCA1 and BRCA2 gene mutations...
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Article
Association of the serotonin transporter gene, neuroticism and smoking behaviours
Cigarette consumption and smoking cessation are influenced in part by genes. Personality traits have also been implicated in the aetiology of smoking. Neuroticism, a personality trait with a heritable componen...
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Article
Antiangiogenic systemic gene therapy combined with doxorubicin administration induced caspase 8 and 9-mediated apoptosis in endothelial cells and an anti-metastasis effect
Ad-PPE-Fas-c is an adenovector that expresses Fas-c under the control of the modified pre-proendothelin-1 (PPE-1) promoter. Fas-c is a chimeric death receptor containing the extracellular portion of tumour nec...
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Article
Erratum: Selective oncolytic effect of an attenuated Newcastle disease virus (NDV-HUJ) in lung tumors
Cancer Gene Therapy (2008) 15, 795–807; doi:10.1038/cgt.2008.31 The authors have noticed a spelling error in the author line. The correct author is shown below. E Eliahoo The authors would like to apologize fo...
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Article
Selective oncolytic effect of an attenuated Newcastle disease virus (NDV-HUJ) in lung tumors
Newcastle disease virus (NDV), an avian paramyxovirus, has a potential oncolytic effect that may be of significance in the treatment of a variety of cancer diseases. An attenuated lentogenic isolate of NDV (HU...
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Article
Open AccessMutation spectrum of Joubert syndrome and related disorders among Arabs
Joubert syndrome (JS) is a rare autosomal recessive (AR), neurological condition characterized by dysgenesis of the cerebellar vermis with the radiological hallmark of molar tooth sign, oculomotor apraxia, rec...
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Erratum: Mutation spectrum of Joubert syndrome and related disorders among Arabs
Correction to: Human Genome Variation (2014) 1, 14020; doi:10.1038/hgv.2014.20; published online 6 November 2014 After online publication of this review, the authors noticed couple of errors in Table 2 in the ...
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Article
Co-expression of fibulin-5 and VEGF165 increases long-term patency of synthetic vascular grafts seeded with autologous endothelial cells
Small caliber synthetic vascular grafts are commonly used for bypass surgery and dialysis access sites but have high failure rates because of neointima formation and thrombosis. Seeding synthetic grafts with e...
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Article
Adenovirus vector-mediated YKL-40 shRNA attenuates eosinophil airway inflammation in a murine asthmatic model
Recent studies have revealed that YKL-40 is involved in the pathogenesis of asthma. However, its specific mechanism remains unclear. The present study aims to investigate the effect of adenovirus vector-mediat...
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Article
Open AccessGene therapy for spinal muscular atrophy: the Qatari experience
Spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder characterized by hypotonia, progressive muscle weakness, and wasting. Onasemnogene abeparvovec (Zolgensma®) is a novel gene therapy m...
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Article
A critical ETV4/Twist1/Vimentin axis in Ha-RAS-induced aggressive breast cancer
RAS oncogenes are major drivers of diverse types of cancer. However, they are largely not druggable, and therefore targeting critical downstream pathways and dependencies is an attractive approach. We have iso...
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Article
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein
The clinical diagnosis of patients with multisystem involvement including a pronounced neurologic damage is challenging. High-throughput sequencing methods remains crucial to provide an accurate diagnosis. In ...
