Sex differences and risk factors for bleeding in Alagille syndrome

Resource type: Publication Publication
  • Authors
    Hankeova, Simona; Van Hul, Noemi; Laznovsky, Jakub; Verboven, Elisabeth; Mangold, Katrin; Hensens, Naomi; Adori, Csaba; Verhoef, Elvira; Zikmund, Tomas; Dawit, Feven; Kavkova, Michaela; Salplachta, Jakub; Sjoqvist, Marika; Johansson, Bengt R; Hassan, Mohamed G; Fredriksson, Linda; Baumgartel, Karsten; Bryja, Vitezslav; Lendahl, Urban; Jheon, Andrew; Alten, Florian; Fahnehjelm, Kristina Tear; Fischler, Bjorn; Kaiser, Jozef; Andersson, Emma R
  • Type
    Original Research
  • Journal
    EMBO Molecular Medicine
  • Publication Date
    2022
  • Abstract

    Spontaneous bleeds are a leading cause of death in the pediatric JAG1-related liver disease Alagille syndrome (ALGS). We asked whether there are sex differences in bleeding events in patients, whether Jag1Ndr/Ndr mice display bleeds or vascular defects, and whether discovered vascular pathology can be confirmed in patients non-invasively.