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Showing 1–13 of 13 results
Advanced filters: Author: Gary Karp Clear advanced filters

  • 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

  • Here the authors describe the discovery of a class of small molecule splicing modifiers which are orally bioavailable, cross the blood-brain barrier, and lower levels of huntingtin in a mouse model of Huntington’s disease (HD).

    • Anuradha Bhattacharyya
    • Christopher R. Trotta
    • Stuart W. Peltz
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-12

  • Whole-genome sequencing, transcriptome-wide association and fine-mapping analyses in over 7,000 individuals with critical COVID-19 are used to identify 16 independent variants that are associated with severe illness in COVID-19.

    • Athanasios Kousathanas
    • Erola Pairo-Castineira
    • J. Kenneth Baillie
    ResearchOpen Access
    Nature
    Volume: 607, P: 97-103

  • Drugs that modify RNA splicing are promising treatments for many genetic diseases. Here the authors show that deep learning strategies can predict drug targets, strongly supporting the use of in silico approaches to expand the therapeutic potential of drugs that modulate RNA splicing.

    • Dadi Gao
    • Elisabetta Morini
    • Susan A. Slaugenhaupt
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-15

  • Systemic lupus erythematosus (SLE) is an autoimmune disease with a strong ethnic and gender bias. In a transancestral genetic association study, Langefeldet al. identify 24 novel regions associated with risk to lupus and propose a cumulative hits hypothesis for loci conferring risk to SLE.

    • Carl D. Langefeld
    • Hannah C. Ainsworth
    • Timothy J. Vyse
    ResearchOpen Access
    Nature Communications
    Volume: 8, P: 1-18

  • In vitro experiments of a biomaterial's degradability rarely predict its in vivo behaviour. It is now shown that tracking the hydrolytic and enzymatic erosion of model materials by non-invasive fluorescence imaging allows the prediction of in vivo erosion from in vitro data. The approach should enable rapid screening of erodable biomaterials.

    • Natalie Artzi
    • Nuria Oliva
    • Elazer R. Edelman
    Research
    Nature Materials
    Volume: 10, P: 890

  • A small molecule, PTC124, enables the translation machinery for mRNA into proteins to bypass sites that cause premature termination, but still terminate normally at the end of the mRNA. In human and mouse cells, this drug restores normal translation of the gene that is mutated in muscular dystrophy, and restores muscle function in mdx mice that model the human disease.

    • Ellen M. Welch
    • Elisabeth R. Barton
    • H. Lee Sweeney
    Research
    Nature
    Volume: 447, P: 87-91

  • Incompatible data storage formats have hindered the sharing and analyses of digital representations of biological pathways. BioPAX is a standardized language supported by >40 databases and software tools for exchanging pathway data.

    • Emek Demir
    • Michael P Cary
    • Gary D Bader
    Reviews
    Nature Biotechnology
    Volume: 28, P: 935-942

  • A high-quality sequence assembly of the zebrafish genome reveals the largest gene set of any vertebrate and provides information on key genomic features, and comparison to the human reference genome shows that approximately 70% of human protein-coding genes have at least one clear zebrafish orthologue.

    • Kerstin Howe
    • Matthew D. Clark
    • Derek L. Stemple
    ResearchOpen Access
    Nature
    Volume: 496, P: 498-503

  • Richard Houlston and colleagues report a genome-wide association study for colorectal cancer. They report three loci newly associated with colorectal cancer, bringing the total number of common susceptibility loci to 20.

    • Malcolm G Dunlop
    • Sara E Dobbins
    • Richard S Houlston
    Research
    Nature Genetics
    Volume: 44, P: 770-776