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Arylsulphatase A Pseudodeficiency (ARSA-PD), hypertension and chronic renal disease in Aboriginal AustraliansTraits associated with CVD, CRD and T2D in Aboriginal Australians provide novel insight into function of Arylsulphatase A Pseudodeficiency variants
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Association between male genital anomalies and adult male reproductive disorders: a population-based data linkage study spanning more than 40 yearsWe provide new evidence to support current guidelines for orchidopexy before age 18 months to decrease the risk of future testicular cancer and infertility
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Evidence for associations between the purinergic receptor P2X(7) (P2RX7) and toxoplasmosisCongenital Toxoplasma gondii infection can result in intracranial calcification, hydrocephalus and retinochoroiditis. Acquired infection is commonly associated
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Reduced socs1 expression in lung fibroblasts from patients with ipf is not mediated by promoter methylation or mir155The interleukin (IL)-6 family of cytokines and exaggerated signal transducer and activator of transcription (STAT)3 signaling is implicated in idiopathic pulmonary fibrosis (IPF) pathogenesis, but the mechanisms regulating STAT3 expression and function are unknown. Suppressor of cytokine signaling (SOCS)1 and SOCS3 block STAT3, and low SOCS1 levels have been reported in IPF fibroblasts and shown to facilitate collagen production. Fibroblasts and lung tissue from IPF patients and controls were used to examine the mechanisms underlying SOCS1 down-regulation in IPF.
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Genome-Wide Analysis of Genetic Risk Factors for Rheumatic Heart Disease in Aboriginal Australians Provides Support for Pathogenic Molecular MimicryRheumatic heart disease (RHD) after group A streptococcus (GAS) infections is heritable and prevalent in Indigenous populations. Molecular mimicry between human and GAS proteins triggers proinflammatory cardiac valve-reactive T cells.
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Toxoplasma Modulates Signature Pathways of Human Epilepsy, Neurodegeneration & Cancer.disease-deconvolution" identified associations between the parasite-brain interactions and epilepsy, movement disorders, Alzheimer's disease, and cancer.
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In vitro drug susceptibility of two strains of the wildlife trypanosome, Trypanosoma copemani: A comparison with Trypanosoma cruziCompared the in vitro susceptibility of two strains of Trypanosoma copemani and one strain of T. cruzi against drugs that show trypanocidal activity
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An atlas of human long non-coding RNAs with accurate 5′ endsCombining these findings with conservation data, we identify 19,175 potentially functional lncRNAs in the human genome.
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No simple answers for the Finnish and Russian Karelia allergy contrast: Methylation of CD14 geneThe methylation variation in the promoter region of CD14 gene did not explain the asthma and allergy contrast between Finnish and Russian Karelian children
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Immunogenetics of Parasitic and Bacterial DiseaseHere we focus on more recent well-powered genome-wide association studies, including malaria, leprosy, tuberculosis, and visceral leishmaniasis