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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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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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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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Insights into the possible role of IFNG and IFNGR1 in Kala-azar and Post Kala-azar Dermal Leishmaniasis in Sudanese patientsUniformly low expression of IFN and IFNGR1 in PKDL skin biopsies could explain parasite persistence
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Confirmation of childhood acute lymphoblastic leukemia Variants, ARID5B and IKZF1, and interaction with parental environmental exposuresThe polygenic nature of childhood ALL predisposition together with the timing of environmental triggers may hold vital clues for disease etiology.
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Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) studyThis genome-wide association study (GWAS) utilises data from the Western Australian Pregnancy Cohort (Raine) Study for 25-hydroxyvitamin D (25(OH)D) levels...
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The correlation between reading and mathematics ability at age twelve has a substantial genetic componentDissecting how genetic and environmental influences impact on learning is helpful for maximizing numeracy and literacy.
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Host genetic factors in American cutaneous leishmaniasis: A critical appraisal of studies conducted in an endemic area of BrazilThis paper reviews American cutaneous leishmaniasis (ACL) immunogenetics in the state of Bahia (BA), northeastern Brazil, highlighting the interacting roles...
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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...