22 Result(s)
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Chapter
Restriction Fragment Length Polymorphism of HLA-DR7 Alleles and Association with HLA-B Antigens
Although HLA-DR7 appears to be serologically homo- 2. geneous (1), it may be split according to epitopes recognized by T cells (Dw7, Dwl1) and is normally found in association with either DQw2 or DQw3. This re...
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Chapter
Identification of Dw2, Dw12, and “Short” DR2 Splits with Sequential Exon-Specific DRβ, DQβ, and DQα cDNA Probes
The HLA-DR2 specificity has been divided by alloantisera (DR2 and “short” DR2) and by T cells (Dw2, Dw12, DB9 (LD-5a), FJO, and LD-MN2). The FJO and LD-MN2 splits appear to correlate with the short DR2 serotyp...
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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
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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Article
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
Consanguinity, endogamy, and genetic disorders in Tunisia
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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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Article
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
Open AccessRecurrent loss of heterozygosity correlates with clinical outcome in pancreatic neuroendocrine cancer
Pancreatic neuroendocrine tumors (pNETs) are uncommon cancers arising from pancreatic islet cells. Here we report the analysis of gene mutation, copy number, and RNA expression of 57 sporadic well-differentiat...
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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 AccessMultiomics characteristics of neurogenesis-related gene are dysregulated in tumor immune microenvironment
The success of immunotherapy was overshadowed by its low response rate, and the hot or cold tumor microenvironment was reported to be responsible for it. However, due to the lack of an appropriate method, it i...
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Article
Open AccessBroadening INPP5E phenotypic spectrum: detection of rare variants in syndromic and non-syndromic IRD
Pathogenic variants in INPP5E cause Joubert syndrome (JBTS), a ciliopathy with retinal involvement. However, despite sporadic cases in large cohort sequencing studies, a clear association with non-syndromic inher...
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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
Open AccessWhole genome sequencing and in vitro splice assays reveal genetic causes for inherited retinal diseases
Inherited retinal diseases (IRDs) are a major cause of visual impairment. These clinically heterogeneous disorders are caused by pathogenic variants in more than 270 genes. As 30–40% of cases remain geneticall...
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Article
Open AccessNucleosome footprinting in plasma cell-free DNA for the pre-surgical diagnosis of ovarian cancer
Fragmentation patterns of plasma cell-free DNA (cfDNA) are known to reflect nucleosome positions of cell types contributing to cfDNA. Based on cfDNA fragmentation patterns, the deviation in nucleosome footprin...
