Ontology highlight
ABSTRACT:
SUBMITTER: Koenig SN
PROVIDER: S-EPMC5752295 | biostudies-other | 2017 Nov
REPOSITORIES: biostudies-other
JCI insight 20171102 21
An ascending aortic aneurysm (AscAA) is a life-threatening disease whose molecular basis is poorly understood. Mutations in NOTCH1 have been linked to bicuspid aortic valve (BAV), which is associated with AscAA. Here, we describe a potentially novel role for Notch1 in AscAA. We found that Notch1 haploinsufficiency exacerbated the aneurysmal aortic root dilation seen in the Marfan syndrome mouse model and that heterozygous deletion of Notch1 in the second heart field (SHF) lineage recapitulated t ...[more]