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Showing 1–6 of 6 results
Advanced filters: Author: Greta Pintacuda Clear advanced filters

  • Risk associated with genetically defined forms of autism spectrum disorder (ASD) can propagate by means of transcriptional regulation to affect convergently dysregulated pathways, providing insight into the convergent impact of ASD genetic risk on human neurodevelopment.

    • Aaron Gordon
    • Se-Jin Yoon
    • Daniel H. Geschwind
    ResearchOpen Access
    Nature
    P: 1-13

  • An analysis of rare genetic variants identifies three genes—MAP1A, ANO8 and ANK2—that have a role in attention deficit hyperactivity disorder (ADHD) and investigates the potential underlying biological mechanisms.

    • Ditte Demontis
    • Jinjie Duan
    • Anders D. Børglum
    ResearchOpen Access
    Nature
    Volume: 649, P: 909-917

  • Genetic variation can impact protein complexes and interaction networks, but reconciling genetic and proteomic information remains challenging. To address this need, the authors develop Genoppi —a computational tool for integrating genetics and cell-type-specific proteomics data.

    • Greta Pintacuda
    • Frederik H. Lassen
    • Kasper Lage
    ResearchOpen Access
    Nature Communications
    Volume: 12, P: 1-10

  • The inactive X chromosome (Xi) has an atypical structure, with global loss of TADs, A/B compartments and formation of mega-domains. Here the authors show that the non-canonical SMC family protein, SmcHD1, important for developmental gene silencing on Xi, antagonises TAD formation and compartmentalization on the Xi in a transcription independent way.

    • Michal R. Gdula
    • Tatyana B. Nesterova
    • Neil Brockdorff
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14