4,530 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

    Genomics of 1 million parent lifespans implicates novel pathways and common diseases and distinguishes survival chances

    Paul RHJ Timmers et al.
    Genomic associations with lifespan principally reflect heart disease/smoking/dementia but not other cancers, and distinguish lifespan differences of five years between top/bottom deciles of a score derived from DNA alone.
    1. Chromosomes and Gene Expression
    2. Genetics and Genomics

    Two locus inheritance of non-syndromic midline craniosynostosis via rare SMAD6 and common BMP2 alleles

    Andrew T Timberlake et al.
    Epistatic interactions of rare loss of function mutations in SMAD6 and a common variant modifier near BMP2 are the most common cause of midline craniosynostosis in humans.
    1. Neuroscience

    Extrinsic and intrinsic dynamics in movement intermittency

    Damar Susilaradeya et al.
    The rhythmicity in upper-limb tracking movements and associated population dynamics in primary motor cortex is explained by a feedback controller incorporating optimal state estimation.
    1. Genetics and Genomics
    2. Neuroscience

    CNTN5-/+or EHMT2-/+human iPSC-derived neurons from individuals with autism develop hyperactive neuronal networks

    Eric Deneault et al.
    Autism-associated iPSC-derived neurons mutant in CNTN5 or EHMT2 are hyperactive.
    1. Computational and Systems Biology
    2. Physics of Living Systems

    Imaging single-cell blood flow in the smallest to largest vessels in the living retina

    Aby Joseph et al.
    By using a specialized camera that corrects for eye blur, millions of single-blood-cells are imaged, and their speed measured, as they travel through the largest-to-smallest vessels of the retina.
    1. Computational and Systems Biology
    2. Epidemiology and Global Health

    The intractable challenge of evaluating cattle vaccination as a control for bovine Tuberculosis

    Andrew James Kerr Conlan et al.
    Natural transmission experiments should be prioritised over risky and expensive field trials, in order to establish the impact of cattle vaccination on the transmission of bovine Tuberculosis.
    1. Computational and Systems Biology
    2. Ecology

    Data-driven identification of potential Zika virus vectors

    Michelle V Evans et al.
    Data-driven methods predict over 35 mosquitoes are potential vectors of Zika virus, suggesting a larger geographic area and a greater human population is at risk of infection.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Pyphe, a python toolbox for assessing microbial growth and cell viability in high-throughput colony screens

    Stephan Kamrad et al.
    An open-source python package for phenotype analyses provides a versatile, modular and user-friendly solution to determine complementary fitness-related traits from large-scale assays of microbial colonies.
    1. Evolutionary Biology

    Computed tomography shows high fracture prevalence among physically active forager-horticulturalists with high fertility

    Jonathan Stieglitz et al.
    High reproductive effort constrains bone tissue response to physical activity-induced mechanical loading.

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