4,581 results found
    1. Genetics and Genomics
    2. Medicine

    Genetic identification of a common collagen disease in Puerto Ricans via identity-by-descent mapping in a health system

    Gillian Morven Belbin et al.
    A health-system embedding method for genomic discovery and clinical characterization of disease highlights the importance of documenting a wider spectrum of genetic disorders in diverse populations.
    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. Computational and Systems Biology
    2. Genetics and Genomics

    The genetic landscape for amyloid beta fibril nucleation accurately discriminates familial Alzheimer’s disease mutations

    Mireia Seuma et al.
    A massively parallel analysis of the effects of mutations on amyloid beta nucleation provide the first comprehensive atlas of how mutations alter the formation of amyloid fibrils.
    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. Immunology and Inflammation
    2. Microbiology and Infectious Disease

    Phenotypic complementation of genetic immunodeficiency by chronic herpesvirus infection

    Donna A MacDuff et al.
    HOIL-1 deficiency in mice results in a severe immunodeficiency that is effectively complemented by chronic infection with a murine gamma-herpesvirus.
    1. Genetics and Genomics
    2. Microbiology and Infectious Disease

    Panton–Valentine leucocidin is the key determinant of Staphylococcus aureus pyomyositis in a bacterial GWAS

    Bernadette C Young et al.
    Genome-wide association studies have established staphylococcal pyomyositis as a disease whose pathogenesis depends critically on expression of a single toxin, Panton–Valentine leukocidin.
    1. Developmental Biology

    Building the vertebrate codex using the gene breaking protein trap library

    Noriko Ichino et al.
    The analysis of the first 1000 revertible protein trap alleles in zebrafish resulted in new functional genomic annotations and produced a panel of potential new models of human disease.
    1. Chromosomes and Gene Expression

    A promoter interaction map for cardiovascular disease genetics

    Lindsey E Montefiori et al.
    Promoter capture Hi-C in human iPSCs and iPSC-derived cardiomyocytes provides a platform to interrogate gene-regulatory dynamics of cardiomyocyte differentiation and directly links thousands of cardiovascular disease risk loci to hundreds of distal target genes.
    1. Neuroscience

    Genomic mosaicism with increased amyloid precursor protein (APP) gene copy number in single neurons from sporadic Alzheimer's disease brains

    Diane M Bushman et al.
    Somatically derived genomic mosaicism in the form of increased DNA content and APP copy number in single neurons plausibly has a function in sporadic Alzheimer’s disease and points to functions for single-neuron gene copy number changes.
    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.

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