29 Result(s)
within
Biomedicine
Gene Expression
Human Genetics
Ben Ep**er
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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
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
Open AccessRobust SNP genoty** by multiplex PCR and arrayed primer extension
Arrayed primer extension (APEX) is a microarray-based rapid minisequencing methodology that may have utility in 'personalized medicine' applications that involve genetic diagnostics of single nucleotide polymo...
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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
Open AccessGene profiling of the erythro- and megakaryoblastic leukaemias induced by the Graffi murine retrovirus
Acute erythro- and megakaryoblastic leukaemias are associated with very poor prognoses and the mechanism of blastic transformation is insufficiently elucidated. The murine Graffi leukaemia retrovirus induces e...
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Article
Open AccessInsight in modulation of inflammation in response to diclofenac intervention: a human intervention study
Chronic systemic low-grade inflammation in obese subjects is associated with health complications including cardiovascular diseases, insulin resistance and diabetes. Reducing inflammatory responses may reduce ...
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Article
Open AccessVisualization and identification of health space, based on personalized molecular phenotype and treatment response to relevant underlying biological processes
Being able to visualize multivariate biological treatment effects can be insightful. However the axes in visualizations are often solely defined by variation and thus have no biological meaning. This makes the...
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Article
Open AccessAssessment of inflammatory resilience in healthy subjects using dietary lipid and glucose challenges
Resilience or the ability of our body to cope with daily-life challenges has been proposed as a new definition of health, with restoration of homeostasis as target resultant of various physiological stress res...
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Open AccessA systems biology approach to understand the pathophysiological mechanisms of cardiac pathological hypertrophy associated with rosiglitazone
Cardiac pathological hypertrophy is associated with a significantly increased risk of coronary heart disease and has been observed in diabetic patients treated with rosiglitazone whereas most published studies...
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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
Open AccessGene and protein analysis reveals that p53 pathway is functionally inactivated in cytogenetically normal Acute Myeloid Leukemia and Acute Promyelocytic Leukemia
Mechanisms that inactivate the p53 pathway in Acute Myeloid Leukemia (AML), other than rare mutations, are still not well understood.
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Open AccessA combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy
Electrocardiographic measures of left ventricular hypertrophy (LVH) are used as predictors of cardiovascular risk. We combined linkage and association analyses to discover novel rare genetic variants involved ...
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Article
Open AccessIntegrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
Genetic loss-of-function variants (LoFs) associated with disease traits are increasingly recognized as critical evidence for the selection of therapeutic targets. We integrated the analysis of genetic and clin...
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Open AccessCorrection to: Integrative analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits
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Article
Open AccessPharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritisation
A systematic review of pharmacogenomic studies capturing adverse drug reactions (ADRs) related to asthma medications was undertaken, and a survey of Pharmacogenomics in Childhoo...
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Open AccessCorrection: Pharmacogenomic associations of adverse drug reactions in asthma: systematic review and research prioritization
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
