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Showing 1–10 of 10 results
Advanced filters: Author: Kathleen C Prins Clear advanced filters

  • Urinary albumin-to-creatinine ratio (UCAR) is associated with various clinical outcomes such as kidney disease and cardiovascular disease. Here, the authors report genome-wide meta-analysis in over 500,000 individuals and find 68 UACR loci, followed by statistical fine-mapping, gene prioritization and experimental validation in flies.

    • Alexander Teumer
    • Yong Li
    • Anna Köttgen
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-19

  • A trans-ancestry genome-wide association study of serum urate levels identifies 183 loci influencing this trait. Enrichment analyses, fine-mapping and colocalization with gene expression in 47 tissues implicate the kidney and liver as key target organs and prioritize potential causal genes.

    • Adrienne Tin
    • Jonathan Marten
    • Anna Köttgen
    Research
    Nature Genetics
    Volume: 51, P: 1459-1474

  • A global network of researchers was formed to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity; this paper reports 13 genome-wide significant loci and potentially actionable mechanisms in response to infection.

    • Mari E. K. Niemi
    • Juha Karjalainen
    • Chloe Donohue
    ResearchOpen Access
    Nature
    Volume: 600, P: 472-477

  • Louise Wain, Ian Hall, Martin Tobin and colleagues report genome-wide association analyses of lung function, identifying 43 new signals associated with one or more lung function traits. A genetic risk score derived from these results was significantly associated with risk for chronic obstructive pulmonary disease in independent populations.

    • Louise V Wain
    • Nick Shrine
    • Martin D Tobin
    Research
    Nature Genetics
    Volume: 49, P: 416-425

  • The protein VP35 from Ebola virus contributes to immune evasion by antagonizing interferon signaling pathways. Now the crystal structure of the interferon inhibitory domain of VP35 bound to dsRNA indicates that VP35 sequesters the dsRNA ends, preventing them from being sensed by RIG-I-like receptors and inhibiting immune responses.

    • Daisy W Leung
    • Kathleen C Prins
    • Gaya K Amarasinghe
    Research
    Nature Structural & Molecular Biology
    Volume: 17, P: 165-172

  • Size and shape of the brain are, among others, influenced by the dimensions of the skull. Here, the authors report genome-wide association studies for head circumference and intracranial volume in children and adults and the identification of nine common or low-frequency variants associated with these traits.

    • Simon Haworth
    • Chin Yang Shapland
    • Beate St Pourcain
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-16

  • In an inter-laboratory study, the authors compare the accuracy and performance of three optical density calibration protocols (colloidal silica, serial dilution of silica microspheres, and colony-forming unit (CFU) assay). They demonstrate that serial dilution of silica microspheres is the best of these tested protocols, allowing precise and robust calibration that is easily assessed for quality control and can also evaluate the effective linear range of an instrument.

    • Jacob Beal
    • Natalie G. Farny
    • Jiajie Zhou
    ResearchOpen Access
    Communications Biology
    Volume: 3, P: 1-29