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Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multipleDissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21We performed...
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Defining the microbes in the middle ear and upper respiratory tract that lead to recurrent ear infections – a metagenomic studyUsing the latest sequencing technology to examine the microbial composition of the middle ear & nasopharyngeal region, the site of initial colonization of OM
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SeqNextGen: Translating NextGen Sequencing for the Diagnosis of Developmental Anomalies and Rare DiseasesDevelopment and implementation of a person-centric Model of Care for people living with developmental anomalies and rare diseases in Western Australia.
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Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal PopulationOur goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.
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Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital MicrocephalyThe recent increase in babies born with brain and eye malformations in Brazil is associated with Zika virus (ZIKV) infection in utero. ZIKV alters host DNA methylation in vitro. Using genome-wide DNA methylation profiling we compared 18 babies born with congenital ZIKV microcephaly with 20 controls. We found ZIKV-associated alteration of host methylation patterns, notably at RABGAP1L which is important in brain development, at viral host immunity genes MX1 and ISG15, and in an epigenetic module containing the causal microcephaly gene MCPH1. Our data support the hypothesis that clinical signs of congenital ZIKV are associated with changes in DNA methylation.
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Linking the westernised oropharyngeal microbiome to the immune response in Chinese immigrantsHuman microbiota plays a fundamental role in modulating the immune response. Western environment and lifestyle are envisaged to alter the human microbiota with a new microbiome profile established in Chinese immigrants, which fails to prime the immune system. Here, we investigated how differences in composition of oropharyngeal microbiome may contribute to patterns of interaction between the microbiome and immune system in Chinese immigrants living in Australia.
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Epitope-Binding Characteristics for Risk versus Protective DRB1 Alleles for Visceral LeishmaniasisOur data provide insight into the molecular mechanisms underpinning the association of HLA-DRB1 alleles with risk versus protection in visceral leishmaniasis in humans
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Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitroOur results show perturbation of host mitochondrial function following T. gondii infection that likely impacts on pathogenesis of disease.
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Burkholderia pseudomallei evades Nramp1 (Slc11a1)- and NADPH oxidase-mediated killing in macrophages and exhibits Nramp1-dependent virulence gene expressionHere we show that transfected macrophages stably expressing wild-type Nramp1 (Nramp1+) control the net replication of B. thailandensis, but not B. pseudomallei.
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Early childhood development of boys with genital anomaliesWe found no increased risk of poor development among boys with hypospadias or undescended testis