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Showing 1–4 of 4 results
Advanced filters: Author: Terrence R. Cochrane Clear advanced filters

  • In 2014, the Illuminating the Druggable Genome programme was launched to promote the exploration of currently understudied but potentially druggable proteins. This article discusses how the systematic collection and processing of a wide array of biological and chemical data as part of this programme has enabled the development of evidence-based criteria for tracking the target development level of human proteins, which indicates a substantial knowledge deficit for approximately one out of three proteins in the human proteome. It also highlights the nature of the unexplored therapeutic opportunities for major protein families.

    • Tudor I. Oprea
    • Cristian G. Bologa
    • Gergely Zahoránszky-Köhalmi
    Research
    Nature Reviews Drug Discovery
    Volume: 17, P: 317-332

  • The autistic spectrum disorders (ASDs) are highly heritable, yet the underlying genetic determinants remain largely unknown. Here, a genome-wide analysis of rare copy number variants (CNVs) has been carried out, revealing that ASD sufferers carry a higher load of rare, genic CNVs than do controls. Many of these CNVs are de novo and inherited. The results implicate several novel genes in ASDs, and point to the importance of cellular proliferation, projection and motility, as well as specific signalling pathways, in these disorders.

    • Dalila Pinto
    • Alistair T. Pagnamenta
    • Catalina Betancur
    Research
    Nature
    Volume: 466, P: 368-372