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        Research

        Persistent activation of interlinked type 2 airway epithelial gene networks in sputum-derived cells from aeroallergen-sensitized symptomatic asthmatics

        Our findings provide new insight into the molecular mechanisms operative at baseline in the airway mucosa in atopic asthmatic with natural aeroallergen exposure ...

        Research

        The -308 bp TNF gene polymorphism influences tumor necrosis factor expression in leprosy patients in Bahia State, Brazil

        TNF mRNA expression was higher in leprosy patients compared to endemic controls, but did not differ significantly between clinical subgroups ...

        Research

        Integration of genetics and miRNA-target gene network identified disease biology implicated in tissue specificity

        Our result highlighted that miRNA-target gene network contributes to human disease genetics in a cell type-specific manner ...

        Research

        Validation of a mouse xenograft model system for gene expression analysis of human acute lymphoblastic leukaemia

        Pre-clinical models that effectively recapitulate human disease are critical for expanding our knowledge of cancer biology and drug resistance mechanisms. ...

        Research

        Severe congenital cutis laxa: Identification of novel homozygous LOX gene variants in two families

        We report three babies from two families with a severe lethal form of congenital cutis laxa. All three had redundant and doughy-textured skin and two siblings from one family had facial dysmorphism. Echocardiograms showed thickened and poorly contractile hearts, arterial dilatation and tortuosity. Post-mortem examination in two of the babies further revealed widespread ectasia and tortuosity of medium and large sized arteries, myocardial hypertrophy, rib and skull fractures. ...

        Research

        No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 gene

        The methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children ...

        Research

        Target validation of the inosine monophosphate dehydrogenase (IMPDH) gene in Cryptosporidium using Phylomer® peptides

        Cryptosporidiosis, a gastroenteric disease characterised mainly by diarrheal illnesses in humans and mammals is caused by infection with the protozoan... ...

        Research

        Gene-vitamin D interactions on food sensitization: A prospective birth cohort study

        It has been hypothesized that vitamin D deficiency (VDD) contributes to the development of food sensitization (FS) and then food allergy. ...

        Research

        Effective adenovirus-mediated gene transfer into neural stem cells derived from human embryonic stem cells

        Human embryonic stem cell-derived neural stem cells (hESC-NSCs) are an attractive cell type for studying ...

        Research

        Gene editing and cardiac disease modelling for the interpretation of genetic variants of uncertain significance in congenital heart disease

        Genomic sequencing in congenital heart disease (CHD) patients often discovers novel genetic variants, which are classified as variants of uncertain significance (VUS). Functional analysis of each VUS is required in specialised laboratories, to determine whether the VUS is disease causative or not, leading to lengthy diagnostic delays. ...

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