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Showing 1–3 of 3 results
Advanced filters: Author: Ralf Knöfler Clear advanced filters

  • Correction of disease-causing large genomic inversions remains challenging. Here, the authors developed a dual designer-recombinase system (RecF8) that efficiently corrects a 140 kb inversion frequently found in patients with severe Hemophilia A.

    • Felix Lansing
    • Liliya Mukhametzyanova
    • Frank Buchholz
    ResearchOpen Access
    Nature Communications
    Volume: 13, P: 1-15

  • Genetic variants in ACTB and ACTG1 have been associated with Baraitser-Winter Cerebrofrontofacial syndrome. Here, the authors report of a syndromic thrombocytopenia caused by variants in ACTB exons 5 or 6 that compromise the organization and coupling of the cytoskeleton, leading to impaired platelet maturation.

    • Sharissa L. Latham
    • Nadja Ehmke
    • Nataliya Di Donato
    ResearchOpen Access
    Nature Communications
    Volume: 9, P: 1-17