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EVC-EVC2 complex stability and ciliary targeting are regulated by modification with ubiquitin and SUMOEllis van Creveld syndrome and Weyers acrofacial dysostosis are two rare genetic diseases affecting skeletal development. They are both ciliopathies, as they are due to malfunction of primary cilia, microtubule-based plasma membrane protrusions that function as cellular antennae and are required for Hedgehog signaling, a key pathway during skeletal morphogenesis.
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Genomic analyses in Cornelia de Lange Syndrome and related diagnoses: Novel candidate genes, genotype–phenotype correlations and common mechanismsCornelia de Lange Syndrome (CdLS) is a rare, dominantly inherited multisystem developmental disorder characterized by highly variable manifestations of growth and developmental delays, upper limb involvement, hypertrichosis, cardiac, gastrointestinal, craniofacial, and other systemic features.
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Probiotic supplementation in neonates and long-term gut colonisation: A systematic review of randomised controlled trialsProbiotic supplementation in the neonatal period results in improved gut colonisation with probiotic bacteria in the short term. There is limited information on the long-term sustainability of this colonisation.
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Modalities of group A streptococcal prevention and treatment and their economic justificationInfection by group A Streptococcus (Strep A) results in a diverse range of clinical conditions, including pharyngitis, impetigo, cellulitis, necrotising fasciitis, and rheumatic heart disease. In this article, we outline the recommended strategies for Strep A treatment and prevention and review the literature for economic evaluations of competing treatment and prevention strategies.
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Safeguarding youth sexual and reproductive health and rights in the context of increasing climate-related disasters in the Pacific: A scoping review of policies and responsesPacific youth (15–24 years) experience multiple challenges to realising their sexual and reproductive health and rights (SRHR). Climate-related disasters compound pre-existing social and health inequities, including for youth SRHR. Meaningful youth engagement is crucial to understand their risks and inform inclusive disaster responses.
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Community knowledge, attitude and practices regarding zoonotic viral haemorrhagic fevers in five geo-ecological zones in TanzaniaViral haemorrhagic fevers (VHF) cause significant economic and public health impact in Sub-Saharan Africa. Community knowledge, awareness and practices regarding such outbreaks play a pivotal role in their management and prevention. This study was carried out to assess community knowledge, attitude and practices regarding VHF in five geo-ecological zones in Tanzania.
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It is more “unbalanced” than you thinkSébastien Malinge PhD Laboratory Head, Translational Genomics in Leukaemia, Ursula Kees Fellow (CCRF), Cancer Council WA Fellow (CCWA), Senior
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Stimulation of alpha-1 adrenoceptors may intensify cutaneous inflammation in complex regional pain syndromeAlpha-1 adrenoceptors are overexpressed in the epidermis of a subgroup of patients with complex regional pain syndrome. Activating α 1 -adrenoceptors in epidermal cells increases production of the proinflammatory cytokine interleukin-6, a mediator of inflammation.
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Exploring the Reported Strengths and Limitations of Aboriginal and Torres Strait Islander Health Research: A Narrative Review of Intervention StudiesHigh quality intervention research is needed to inform evidence-based practice and policy for Aboriginal and Torres Strait Islander communities. We searched for studies published from 2008-2020 in the PubMed database. A narrative review of intervention literature was conducted, where we identified researcher reported strengths and limitations of their research practice.
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WALLABY Pilot Survey: H i gas kinematics of galaxy pairs in cluster environmentWe examine the H i gas kinematics of galaxy pairs in two clusters and a group using Australian Square Kilometre Array Pathfinder (ASKAP) WALLABY pilot survey observations. We compare the H i properties of galaxy pair candidates in the Hydra I and Norma clusters, and the NGC 4636 group, with those of non-paired control galaxies selected in the same fields.