2,075 results found
    1. Genetics and Genomics

    Regulatory polymorphisms modulate the expression of HLA class II molecules and promote autoimmunity

    Prithvi Raj et al.
    Genetic variations that underlie common autoimmune disease genes are predominantly regulatory and modify the expression of multiple genes within the HLA gene complex and throughout the immune system.
    1. Genetics and Genomics

    Genetic predisposition to uterine leiomyoma is determined by loci for genitourinary development and genome stability

    Niko Välimäki et al.
    Genetic predisposition to uterine leiomyomas arises from variation at loci for genetic stability and genitourinary development, and in part explains the frequent occurrence of the condition in women with African origin.
    1. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    The Crohn’s disease polymorphism, ATG16L1 T300A, alters the gut microbiota and enhances the local Th1/Th17 response

    Sydney Lavoie et al.
    Gnotobiotic and conventional mouse models of the IBD ATG16L1T300A SNP reveal gene-microbiota-immune interactions.
    1. Epidemiology and Global Health
    2. Genetics and Genomics

    Characterisation of the opposing effects of G6PD deficiency on cerebral malaria and severe malarial anaemia

    Geraldine M Clarke et al.
    Increasing levels of glucose-6-phosphate dehydrogenase deficiency are associated with decreasing risk of cerebral malaria, but with increased risk of severe malarial anaemia.
    1. Plant Biology

    Multiple alleles at a single locus control seed dormancy in Swedish Arabidopsis

    Envel Kerdaffrec et al.
    Natural variation for an adaptively important life history trait is largely due to variation at a single, major-effect locus with multiple alleles, demonstrating that not all complex traits are massively polygenic.
    1. Genetics and Genomics
    2. Immunology and Inflammation

    Evolution of cytokine production capacity in ancient and modern European populations

    Jorge Domínguez-Andrés et al.
    Neolithic was a turning point for immune responses in Europeans, favoring tolerance against intracellular pathogens, promoting inflammation against extracellular microbes, and being related to current auto-immune diseases.
    1. Computational and Systems Biology
    2. Neuroscience

    Mouse brain transcriptome responses to inhaled nanoparticulate matter differed by sex and APOE in Nrf2-Nfkb interactions

    Amin Haghani et al.
    Transcriptome analysis of mouse brain revealed that the APOE4 allele and sex can alter air pollution neurotoxicity in adults.
    1. Neuroscience

    Impaired ABCA1/ABCG1-mediated lipid efflux in the mouse retinal pigment epithelium (RPE) leads to retinal degeneration

    Federica Storti et al.
    Lipid efflux by the retinal pigment epithelium is crucial for proper retinal integrity and function, and its impairment may contribute to diseases like age-related macular degeneration.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    APOL1 renal risk variants have contrasting resistance and susceptibility associations with African trypanosomiasis

    Anneli Cooper et al.
    Common kidney disease risk variants in African populations are associated with reduced susceptibility to deadly African trypanosomes.
    1. Evolutionary Biology
    2. Medicine

    APOE4 is associated with elevated blood lipids and lower levels of innate immune biomarkers in a tropical Amerindian subsistence population

    Angela R Garcia et al.
    The relationship between APOE genotype and disease risks may be environmentally moderated, with APOE4 being less harmful and unlikely to increase cardiometabolic risk in a physically active, energy-limited population.

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