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Rare variant analysis in eczema identifies exonic variants in DUSP1, NOTCH4 and SLC9A4Previous genome-wide association studies revealed multiple common variants involved in eczema but the role of rare variants remains to be elucidated. Here, we investigate the role of rare variants in eczema susceptibility. We meta-analyze 21 study populations including 20,016 eczema cases and 380,433 controls. Rare variants are imputed with high accuracy using large population-based reference panels.
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Targeting cross-presentation as a route to improve the efficiency of peptide-based cancer vaccinesCross-presenting dendritic cells (DC) offer an attractive target for vaccination due to their unique ability to process exogenous antigens for presentation on MHC class I molecules. Recent reports have established that these DC express unique surface receptors and play a critical role in the initiation of anti-tumor immunity, opening the way for the development of vaccination strategies specifically targeting these cells.
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Investigation of structural brain correlates of neurological soft signs in individuals at ultra-high risk for psychosisIncreased severity of neurological soft signs (NSS) in schizophrenia have been associated with abnormal brain morphology in cerebello-thalamo-cortical structures, but it is unclear whether similar structures underlie NSS prior to the onset of psychosis. The present study investigated the relationship between severity of NSS and grey matter volume in individuals at ultra-high risk for psychosis stratified for later conversion to psychosis.
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The psychosocial impact of rare diseases among children and adolescents attending mainstream schools in Western AustraliaLiving with a long-term medical condition is associated with heightened risk for mental health and psychosocial difficulties, but further research is required on this risk for children and adolescents with a rare disease in the educational setting. The aim of this study is to describe parents’ perceptions of the psychosocial impact of rare diseases on their school-aged children in Western Australia.
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Traffic exposure, air pollution and children's physical activity at early childhood education and careA significant number of children attend Early Childhood Education and Care (ECEC). ECEC is an important environment and behaviour setting for young children. Time spent outdoors is positively associated with children's physical activity levels, yet increased time spent physically active outdoors may expose young children to traffic-related air pollution, particularly in ECEC centres located in high traffic areas.
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Revision of the Australian guidelines to reduce health risks from drinking alcoholThe Australian guidelines to reduce health risks from drinking alcohol were released in 2020 by the National Health and Medical Research Council. Based on the latest evidence, the guidelines provide advice on how to keep the risk of harm from alcohol low.
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Time to tackle rheumatic heart disease: Data needed to drive global policy dialoguesThis report provides an update on the contemporary global and regional policy landscapes relevant to rheumatic heart disease
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Activation of ERBB4 in Glioblastoma Can Contribute to Increased Tumorigenicity and Influence Therapeutic ResponseDespite low ERBB4 mRNA in glioblastoma, the functional effects of increased ERBB4 activation identify ERBB4 as a potential prognostic and therapeutic target
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Epidemiology and risk factors for recurrent severe lower limb cellulitis: a longitudinal cohort studySevere lower leg cellulitis recurrences are frequent, and each episode increases the likelihood of subsequent recurrence and length of hospitalization
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Transplacental immune modulation with a bacterial-derived agent protects against allergic airway inflammationThese data provide proof of concept supporting the rationale for developing transplacental immune reprogramming approaches for primary disease prevention