Disease model

  • Article |

    Lymphatic endothelium secretes factors needed for heart growth and repair such as RELN, which helps with heart regeneration and cardioprotection after myocardial infarction.

    • Xiaolei Liu
    • , Ester De la Cruz
    •  & Guillermo Oliver
  • Letter |

    Mutations associated with Treacher Collins syndrome perturb the subnuclear localization of an RNA helicase involved in ribosome biogenesis through activation of p53 protein, illustrating how disruption in general regulators that compromise nucleolar homeostasis can result in tissue-selective malformations.

    • Eliezer Calo
    • , Bo Gu
    •  & Joanna Wysocka
  • Letter |

    Genomic duplications in the SOX9 region are associated with human disease phenotypes; a study using human cells and mouse models reveals that the duplications can cause the formation of new higher-order chromatin structures called topologically associated domains (TADs) thereby resulting in changes in gene expression.

    • Martin Franke
    • , Daniel M. Ibrahim
    •  & Stefan Mundlos
  • Article |

    This study identifies a deubiquitinase (DUB) that specifically recognises and cleaves linear ubiquitin chains, implicating linear (de)ubiquitination in Wnt signalling and angiogenesis; mutations in gumby cause defects in angiogenesis in mice, and structural and biochemical analysis shows that gumby encodes a linear-ubiquitin-specific DUB.

    • Elena Rivkin
    • , Stephanie M. Almeida
    •  & Sabine P. Cordes