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        157-168 of 439 results for 'Rare disease'

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        Valproate and risk of fracture in Rett syndrome

        This study investigated the relationships between fracture risk and commonly used AEDs in Rett syndrome. ...

        Research

        Cyclin-Dependent Kinase-Like 5 Deficiency Disorder: Clinical Review

        Clinical presentations and genetic variations in Cyclin-dependent kinase-like 5 deficiency disorder based on a systematic literature review and experience ...

        Research

        Developing a smartphone application to support social connectedness and wellbeing in young people with cystic fibrosis

        This study developed and tested a highly usable, and moderately acceptable, smartphone app to improve the psychosocial health of young people living with CF ...

        Research

        Elucidating the genetic architecture of Adams-Oliver syndrome in a large European cohort

        The purpose of this study was therefore to comprehensively examine the genetic architecture of Adams-Oliver syndrome in an extensive cohort ...

        Research

        Diverse Anti-Tumor Immune Potential Driven by Individual IFNα Subtypes

        Our data shows that the expression of distinct IFNα subtypes within the tumor microenvironment results in different anti-tumor activities ...

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        International Rett syndrome study: InterRett

        Helen Jenny Leonard Downs HM JA MBChB MPH BApplSci (physio) MSc PhD Principal Research Fellow Program Head, Development and Disability +61 419 956 946 08 6319 1763 helen.leonard@telethonkids.org.au Jenny.Downs@telethonkids.org.au Principal Research ...

        Research

        Transcriptional blood signatures for active and amphotericin B treated visceral leishmaniasis in India

        Amphotericin B provides improved therapy for visceral leishmaniasis (VL) caused by Leishmania donovani ...

        Research

        An in silico pipeline to filter the Toxoplasma gondii proteome for proteins that could traffic to the host cell nucleus and influence host cell epigenetic regulation

        To identify genes with putative epigenetic functions, we developed an in silico pipeline to interrogate the T. gondii proteome of 8313 proteins ...

        Research

        Bilateral murine tumor models for characterizing the response to immune checkpoint blockade

        This protocol describes bilateral murine tumor models that display a symmetrical yet dichotomous response to immune checkpoint blockade ...

        Research

        Communication of individuals with CDKL5 deficiency disorder as observed by caregivers: A descriptive qualitative study

        CDKL5 deficiency disorder (CDD) is a genetically caused developmental epileptic encephalopathy that causes severe communication impairments. Communication of individuals with CDD is not well understood in the literature and currently available measures are not well validated in this population. Accurate and sensitive measurement of the communication of individuals with CDD is important for understanding this condition, clinical practice, and upcoming interventional trials.  ...

        Research

        CAGE-defined promoter regions of the genes implicated in Rett Syndrome

        A comprehensive picture of the regulatory regions of the three genes involved in Rett Syndrome ...

        Research

        Promoter-level expression clustering identifies time development of transcriptional regulatory cascades initiated by ERBB receptors in breast cancer cells

        The analysis of CAGE (Cap Analysis of Gene Expression) time-courses has been applied to examine the dynamics of enhancer and promoter by sequentially... ...

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