2,982 results found
    1. Genetics and Genomics
    2. Human Biology and 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. 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. Chromosomes and Gene Expression
    2. Human Biology and Medicine

    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. Human Biology and Medicine
    2. Neuroscience

    Family history of Alzheimer’s disease alters cognition and is modified by medical and genetic factors

    Joshua S Talboom et al.
    An internet-based cohort study of paired associate learning shows that a first-degree family history of dementia is associated with lowered performance, an effect modified by apolipoprotein E genotype and diabetes.
    1. Neuroscience

    Animal Models of Disease: Fly model causes neurological rethink

    Madhumala K Sadanandappa, Mani Ramaswami
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    1. Genetics and Genomics
    2. Immunology and Inflammation

    SCGN deficiency results in colitis susceptibility

    Luis F Sifuentes-Dominguez et al.
    A novel mutation in SCGN is associated with risk for inflammatory bowel disease and implicates the intestinal neuroendocrine compartment in the pathogenesis of this disorder.
    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. Developmental Biology
    2. Genetics and Genomics

    2018 Gairdner Awards: The discovery and importance of genomic imprinting

    Anne C Ferguson-Smith, Deborah Bourc'his
    Research into genomic imprinting has provided a foundation for the study of epigenetic mechanisms, especially during development, and has also shed light on a range of rare genetic disorders and common diseases.

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