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Showing 1–3 of 3 results
Advanced filters: Author: Sarah Grosch Clear advanced filters

  • Here the authors compare genetic testing strategies in rare movement disorders, improve diagnostic yield with genome analysis, and establish CD99L2 as an X-linked spastic ataxia gene, showing that CD99L2–CAPN1 signaling disruption likely drives neurodegeneration.

    • Benita Menden
    • Rana D. Incebacak Eltemur
    • Tobias B. Haack
    ResearchOpen Access
    Nature Communications
    Volume: 17, P: 1-21

  • Alternative splicing determines which exons are included in mature RNA and accounts for the majority of transcriptomic diversity. In this Review, Gotthardt and colleagues discuss how alternative splicing is regulated in the heart and how it differs in cardiac development, physiological adaptation and pathological remodelling. They also summarize technological advances in the field and potential applications of splicing data in cardiovascular medicine.

    • Michael Gotthardt
    • Victor Badillo-Lisakowski
    • Leslie Leinwand
    Reviews
    Nature Reviews Cardiology
    Volume: 20, P: 517-530