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In about half of all patients with a suspected monogenic disease, genomic investigations fail to identify the diagnosis. A contributing factor is the difficulty with repetitive regions of the genome, such as those generated by segmental duplications. The ATAD3 locus is one such region, in which recessive deletions and dominant duplications have recently been reported to cause lethal perinatal mitochondrial diseases characterized by pontocerebellar hypoplasia or cardiomyopathy, respectively.
Visceral leishmaniasis (VL) caused by parasites of the Leishmania donovani complex can be fatal in susceptible individuals. Understanding the interactions between host and pathogen is one way to obtain leads to develop better drugs and for vaccine development. In recent years multiple omics-based approaches have assisted researchers to gain a more global picture of this interaction in leishmaniasis. Here we review results from studies using three omics-based approaches to study VL caused by L. donovani in India.
GWAS results provide firm confirmation for the importance of antigen presentation and the regulation of IFNγ in determining the outcome of Leishmania infections
In response to DNA damaging chemotherapy, targeting MK2 in p53-mutated cells produces a phenotype that is distinct from the p53-deficient phenotype
We have devised a new approach to degrade tumour ECM, which improves uptake of circulating compounds
Food reactions in food protein–induced enterocolitis syndrome are predominantly underpinned by activation of the innate immune system
Early life infections drive high antibiotic prescribing rates in remote Aboriginal communities
Non-Aspergillus molds and non-albicans Candida contributed substantially to pediatric invasive fungal infection in our study
The Social Interaction Potential Assessment tool can assess Active Video Games potential to facilitate social interaction among players
Cord blood background IL-12 concentrations are important for protecting children from clinical malaria