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        409-420 of 538 results for 'Gene'

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        Re-engaging an inactive cohort of young adults: Evaluating recruitment for the Kidskin Young Adult Myopia Study

        We evaluate our ability to recruit participants for the Kidskin Young Adult Myopia Study, a follow-up of the Kidskin Study ...

        Research

        Upper Airway Cell Transcriptomics Identify a Major New Immunological Phenotype with Strong Clinical Correlates in Young Children with Acute Wheezing

        Asthma exacerbations in children can be divided into IRF7hi versus IRF7lo phenotypes with associated differences in clinical phenotypes ...

        Research

        Tricho-hepatic-enteric syndrome (THES) without intractable diarrhoea

        We report an 8 year old girl who was diagnosed with THES by the Undiagnosed Disease Program-WA with compound heterozygous pathogenic variants in SKIV2L ...

        Research

        Maternal consumption of coffee and tea during pregnancy and risk of childhood ALL: a pooled analysis from the childhood Leukemia International Consortium

        Our findings suggest that high coffee intake during pregnancy may increase risk of childhood acute lymphoblastic leukemia ...

        Research

        Genome-wide association analysis identifies 11 risk variants associated with the asthma with hay fever phenotype

        Previous analyses of family data from the Tasmanian Longitudinal Health Study provide evidence that this phenotype has a stronger genetic cause than asthma... ...

        Research

        Discovery of Transcription Factors Novel to Mouse Cerebellar Granule Cell Development Through Laser-Capture Microdissection

        This study provides an initial insight into the TFs of cerebellar granule cells that might be important for development ...

        Research

        Factors relating to pregnancy and birth and the risk of childhood brain tumors: Results from an Australian case-control study

        Childhood brain tumors (CBT) are the leading cause of cancer death in children, yet their causes are largely known. This study investigated the association... ...

        Research

        What does the nature of the MECP2 mutation tell us about parental origin and recurrence risk in Rett syndrome?

        The MECP2 mutations occurring in the severe neurological disorder Rett syndrome are predominantly de novo, with rare familial cases. The aims of this study... ...

        Research

        Negative impact of insomnia and daytime sleepiness on quality of life in individuals with the cyclin-dependent kinase-like 5 deficiency disorder

        Cyclin-dependent kinase-like 5 (CDKL5) gene pathogenic variants result in CDKL5 deficiency disorder (CDD). Early onset intractable epilepsy and severe developmental delays are prominent symptoms of CDD. Comorbid sleep disturbances are a major concerning symptom for families. ...

        Research

        Initial Validation and Reliability of the CDKL5 Deficiency Disorder Hand Function Scale (CDD-Hand)

        Pathogenic variants in the CDKL5 gene result in CDKL5 deficiency disorder (CDD), which is characterized by early-onset epilepsy, severe developmental delay, and often, cortical visual impairment. Validated clinical outcome measures are needed for future clinical trials to be successful. This study aimed to adapt the Rett Syndrome Hand Function Scale for CDKL5 deficiency disorder and evaluate its feasibility, acceptability, content validity, and reliability. ...

        Research

        Analysis of expression of FLI1 and MMP1 in American cutaneous leishmaniasis caused by Leishmania braziliensis infection

        MMP1 is regulated by factors other than FLI1, and that the influence of IL-6 on MMP1 was independent of its effect on FLI1 in Leishmania braziliensis ...

        Research

        Wound healing genes and susceptibility to cutaneous leishmaniasis in Brazil

        Leishmania braziliensis causes cutaneous (CL) and mucosal (ML) leishmaniasis. In the mouse, Fli1 was identified as a gene influencing enhanced wound healing... ...

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