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Research

Early childhood development of boys with genital anomalies

We found no increased risk of poor development among boys with hypospadias or undescended testis

Research

Epigenetics in infectious diseases

Viruses, bacteria, and parasites have developed strategies to invade and establish long-term infections in their hosts.

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Toxoplasma gondii infection is associated with mitochondrial dysfunction in-vitro

Our 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 expression

Here 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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A "Candidate-Interactome" Aggregate Analysis of Genome-Wide Association Data in Multiple Sclerosis

The interaction between genotype and Epstein Barr virus emerges as relevant for multiple sclerosis etiology.

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Alternative Recruitment Strategies Influence Saliva Sample Return Rates in Community-Based Genetic Association Studies

Using data from three large-scale genetic association studies we compared recruitment strategy and sample return rates.

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Zika Virus Changes Methylation of Genes Involved in Immune Response and Neural Development in Brazilian Babies Born With Congenital Microcephaly

The 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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Common and Rare Genetic Variants That Could Contribute to Severe Otitis Media in an Australian Aboriginal Population

Our goal was to identify genetic risk factors for severe otitis media (OM) in Aboriginal Australians.

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New findings in the pathogenesis of otitis media

This study was the first to concurrently identify middle ear pathogens in both bacterial biofilm and intracellularly in the middle ear mucosa of children and to identify extensive DNA stranding in the MEF from children with AOM

Research

Genetic and functional evaluation of the role of CXCR1 and CXCR2 in susceptibility to visceral leishmaniasis in north-east India

IL8RA and IL8RB, encoded by CXCR1 and CXCR2, are receptors for interleukin (IL)-8 and other CXC chemokines involved in chemotaxis and activation of...