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Examining ERBB2 as a candidate gene for susceptibility to leprosy (Hansen's disease) in BrazilThis study examines whether polymorphisms in the ERBB2 gene were associated with leprosy in primary and replication cohorts from northeastern Brazil.
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A Genome-Wide Search for Type 2 Diabetes Susceptibility Genes in an Extended Arab FamilyWe performed a discovery GWAS in an extended UAE family (N = 178; 66 diabetic; 112 healthy) genotyped on the Illumina Human 660 Quad Beadchip, with...
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Genetic and epigenetic susceptibility to early life infectionTo date there have been relatively few studies on genetic determinants of susceptibility to neonatal infection and many of these have methodological...
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Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunityTo gain further insight into the genetic architecture of psoriasis, we conducted a meta-analysis of 3 genome-wide association studies (GWAS) and 2...
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Anti-Interleukin-10 Unleashes Transcriptional Response to Leishmanial Antigens in Visceral Leishmaniasis PatientsVisceral leishmaniasis (VL; Leishmania donovani) cases produce interferon-γ and tumor necrosis factor in response to soluble leishmanial antigen in whole-blood assays. Using transcriptional profiling, we demonstrate the impact of interleukin-10, a cytokine implicated in VL, on this response.
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A flexible computational pipeline for research analyses of unsolved clinical exome casesExome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25-30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is generated in which all deleterious variants can be filtered by gene, variant characteristics, OMIM disease and Phenolyzer scores, and all are annotated with an ACMG classification and links to ClinVar.
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Reference exome data for a Northern Brazilian populationExome sequencing is widely used in the diagnosis of rare genetic diseases and provides useful variant data for analysis of complex diseases. There is not always adequate population-specific reference data to assist in assigning a diagnostic variant to a specific clinical condition.
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Corynebacterium and Dolosigranulum: Future probiotic candidates for upper respiratory tract infectionsWe recently identified C. pseudodiphtheriticum and D. pigrum as the major nasopharyngeal species associated with resistance to recurrent ear infections
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Transketolase and vitamin B1 influence on ROS-dependent neutrophil extracellular traps (NETs) formationThe regulation of Transketolase by oxythiamine and/or vitamin B1 may therefore be associated with response to the modulation of NET formation
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A microbiome case-control study of recurrent acute otitis media identified potentially protective bacterial generaWe characterised the nasopharyngeal microbiome of these children in comparison to children with rAOM to identify potentially protective bacteria.