Ontology highlight
ABSTRACT:
SUBMITTER: Eggenschwiler R
PROVIDER: S-EPMC6522476 | biostudies-literature | 2019 May
REPOSITORIES: biostudies-literature
Eggenschwiler Reto R Patronov Atanas A Hegermann Jan J Fráguas-Eggenschwiler Mariane M Wu Guangming G Cortnumme Leon L Ochs Matthias M Antes Iris I Cantz Tobias T
Scientific reports 20190516 1
Certain point-mutations in the human SERPINA1-gene can cause severe α1-antitrypsin-deficiency (A1AT-D). Affected individuals can suffer from loss-of-function lung-disease and from gain-of-function liver-disease phenotypes. However, age of onset and severity of clinical appearance is heterogeneous amongst carriers, suggesting involvement of additional genetic and environmental factors. The generation of authentic A1AT-D mouse-models has been hampered by the complexity of the mouse Serpina1-gene l ...[more]