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Showing 1–4 of 4 results
Advanced filters: Author: Nadia Solovieff Clear advanced filters

  • Exome sequence analysis of more than 5,000 schizophrenia cases and controls identifies a polygenic burden primarily arising from rare, disruptive mutations distributed across many genes, among which are those encoding voltage-gated calcium ion channels and the signalling complex formed by the ARC protein of the postsynaptic density; as in autism, mutations were also found in homologues of known targets of the fragile X mental retardation protein.

    • Shaun M. Purcell
    • Jennifer L. Moran
    • Pamela Sklar
    Research
    Nature
    Volume: 506, P: 185-190

  • Era+ breast cancer patients often develop resistance to endocrine therapy. Here, the authors show that FGFR1 amplification is a resistance mechanism to CDK4/6 inhibitor and endocrine therapy and that combined treatment with FGFR, CDK4/6, and anti-estrogens is a potential therapeutic strategy in Era+ breast cancer tumors.

    • Luigi Formisano
    • Yao Lu
    • Carlos L. Arteaga
    ResearchOpen Access
    Nature Communications
    Volume: 10, P: 1-14

  • Modern genomic studies are revealing widespread associations between single genetic variants and multiple distinct traits, including diseases. This Review discusses the biological underpinnings of such pleiotropy and the available bioinformatic tools for the detection and characterization of these effects, as well as the implications for understanding human disease.

    • Nadia Solovieff
    • Chris Cotsapas
    • Jordan W. Smoller
    Reviews
    Nature Reviews Genetics
    Volume: 14, P: 483-495