GEO series
Impaired mechanotransduction in second heart field-derived smooth muscle cells causes NOTCH1 haploinsufficiency-associated aortopathy
GSE337220
Homo sapiens
Expression profiling by high throughput sequencing
18 samples
2026/07/17
GPL24676
Summary
Ascending aortic aneurysms (AscAA) are associated with aortic dissection/rupture and arise from genetic, developmental or biomechanical etiologies. NOTCH1 pathogenic variation is associated with AscAA found with congenital heart defects, such as bicuspid aortic valve and tetralogy of Fallot. This study sought to characterize a Notch1 haploinsufficient murine model of AscAA and investigate mechanisms by which Notch1 deficiency contributes to AscAA.
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