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Two females with mutations in USP9X highlight the variable expressivity of the intellectual disability syndromeThe genetic causes of intellectual disability (ID) are heterogeneous and include both chromosomal and monogenic etiologies.
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Environment Changes Genetic Effects on Respiratory Conditions and Allergic PhenotypesGenotype-phenotype associations relating to bronchitis and allergy susceptibility are dependent on the environment
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A phenotype centric benchmark of variant prioritisation toolsWe hypothesised that the performance of variant prioriisation tools may vary by disease phenotype.
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MatCH (Mothers and their Children’s Health) Profile: offspring of the 1973-78 cohort of the Australian Longitudinal Study on Women’s HealthMatCH is an Australian study to investigate the links between the health, wellbeing and living conditions of mothers and the health and development of their children
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Accumulation mode particles and LPS exposure induce TLR-4 dependent and independent inflammatory responses in the lungWe aimed to delineate the effects of LPS and AMP on airway inflammation, and potential contribution to airway disease by measuring airway inflammatory responses
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CFTR-dependent defect in alternatively-activated macrophages in cystic fibrosisCFTR-dependent imbalance of macrophage phenotypes and functions could contribute to the exaggerated inflammatory response seen in CF lung disease
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PGE2 pulsing of murine bone marrow cells reduces migration of daughter monocytes/macrophages in vitro and in vivoOur results reveal long-lasting changes to progenitor cells of monocytes/macrophages by a 2-hour dimethyl PGE2 pulse that, in turn, limits the migration of their daughter cells to chemoattractants and inflammatory mediators.
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Conditionally reprogrammed primary airway epithelial cells maintain morphology, lineage and disease specific functional characteristicsHere, we show that conditionally reprogrammed airway epithelial cells (CRAECs) can be established from both healthy and diseased phenotypes.
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The correlation between central and peripheral oxytocin concentrations: A systematic review and meta-analysisThese results indicate a coordination of central and peripheral oxytocin release after stress and after intranasal administration
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A longitudinal analysis of the influence of the neighborhood environment on recreational walking within the neighborhood: Results from RESIDEevidence of the positive impact of well-connected neighborhoods and access to local parks of varying sizes on local residents’ recreational walking and health