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Article

Notch1 haploinsufficiency causes ascending aortic aneurysms in mice.

JCI insight - 2 Nov 2017

Koenig Sara N, LaHaye Stephanie, Feller James D, Rowland Patrick, Hor Kan N, Trask Aaron J, Janssen Paul Ml, Radtke Freddy, Lilly Brenda, Garg Vidu

Abstract excerpt

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...

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Share to Aorta
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Share to Aortic Valve

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bicuspid Aortic Valve Disease

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Share to Receptor, Notch1

Source

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Identifiers

PMID: 29093270
DOI: 10.1172/jci.insight.91353
PMCID: PMC5752295

Genes

SHF
NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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