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        Research

        Comprehensive genetic screening: The prevalence of maturity-onset diabetes of the young gene variants in a population-based childhood diabetes cohort

        This is the first comprehensive study of maturity-onset diabetes of the young variants in an unselected population-based pediatric diabetes cohort ...

        Research

        Gene dysregulation in acute HIV-1 infection – early transcriptomic analysis reveals the crucial biological functions affected

        Transcriptomic analyses from early human immunodeficiency virus (HIV) infection have the potential to reveal how HIV causes widespread and lasting damage to biological functions, especially in the immune system. Previous studies have been limited by difficulties in obtaining early specimens. ...

        Research

        Comprehensive candidate gene analysis for symptomatic or asymptomatic outcomes of Leishmania infantum infection in Brazil

        Our results imply a role for IgG-mediated inflammation in determining delayed-type hypersensitivity associated with asymptomatic leishmaniasis ...

        Research

        Drug-gene modeling in pediatric T-cell acute lymphoblastic leukemia highlights importance of 6-mercaptopurine for outcome

        This study advances our understanding of drug resistance in T-ALL and provides new markers for patient stratification. ...

        Research

        Fusionfinder: A software tool to identify expressed gene fusion candidates from RNA-seq data

        The hallmarks of many haematological malignancies and solid tumours are chromosomal translocations, which may lead to gene fusions. ...

        Ivacaftor or lumacaftor/ivacaftor treatment does not alter the core CF airway epithelial gene response to rhinovirus

        Ivacaftor or lumacaftor/ivacaftor treatment does not alter the core CF airway epithelial gene response to rhinovirus Background: Aberrant responses ...

        Research

        Non-severe thermal burn injuries induce long-lasting downregulation of gene expression in cortical excitatory neurons and microglia

        Burn injuries are devastating traumas, often leading to life-long consequences that extend beyond the observable burn scar. In the context of the nervous system, burn injury patients commonly develop chronic neurological disorders and have been suggested to have impaired motor cortex function, but the long-lasting impact on neurons and glia in the brain is unknown. ...

        Research

        The Western Australian family connections genealogical project: Detection of familial occurrences of single gene and chromosomal Disorders

        This study utilised a Western Australian (WA) genealogical database for the identification of single gene and chromosome disorders among families. ...

        Research

        Critical role of plasmacytoid dendritic cells in regulating gene expression and innate immune responses to human rhinovirus-16

        Though HRVs are usually innocuous viruses, they can trigger serious consequences in certain individuals, especially in the setting of IFN synthesis. ...

        Research

        Delineation of large deletions of the MECP2 gene in Rett syndrome patients, including a familial case with a male proband

        Comprehensive genetic screening programs have led to the identification of pathogenic methyl-CpG-binding protein 2 (MECP2) mutations... ...

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