Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

NOTCH1 genetic variants in patients with tricuspid calcific aortic valve stenosis.

The Journal of heart valve disease - 1 Mar 2013

Ducharme Valérie, Guauque-Olarte Sandra, Gaudreault Nathalie, Pibarot Philippe, Mathieu Patrick, Bossé Yohan

Abstract excerpt

BACKGROUND AND AIM OF THE STUDY: Calcific aortic valve stenosis (AS) affects 2-5% of the population aged > 65 years. Functional DNA variants at the NOTCH1 locus result in bicuspid aortic valve (BAV) and severe valve calcification. The contribution of these variants to AS in the population with tr...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Aortic Valve
Share to Aortic Valve Stenosis
Share to Calcinosis

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Canada

Share to Infant

Share to Receptor, Notch1

Share to Severity of Illness Index

Share to White People

Source

Identifiers

PMID: 23798201

Genes

NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23798201-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NOTCH1 genetic variants in patients with tricuspid calcific aortic valve stenosis.PMID 23798201Read ↗

A novel NOTCH1 nonsense variant in a bicuspid aortic valve family with intrafamilial clinical heterogeneity.Semantic proximity Read ↗

Contribution of NOTCH1 genetic variants to bicuspid aortic valve and other congenital lesions.Semantic proximity Read ↗

Molecular genetics of aortic valve diseaseSemantic proximity Read ↗

Genetics of Calcific Aortic Stenosis: A Systematic Review.Semantic proximity Read ↗

Genomics: the next step to elucidate the etiology of calcific aortic valve stenosis.Semantic proximity Read ↗

Novel missense mutations (p.T596M and p.P1797H) in NOTCH1 in patients with bicuspid aortic valve.Semantic proximity Read ↗

Novel loss of function mutation in NOTCH1 in a family with bicuspid aortic valve, ventricular septal defect, thoracic aortic aneurysm, and aortic valve stenosis.Semantic proximity Read ↗

Identification of recurrent variants implicated in disease in bicuspid aortic valve patients through whole-exome sequencingSemantic proximity Read ↗

Calcium Signaling Pathway Genes RUNX2 and CACNA1C Are Associated With Calcific Aortic Valve Disease.Semantic proximity Read ↗

Genotype-phenotype correlation in patients with bicuspid aortic valve and aneurysm.Semantic proximity Read ↗

A transcriptome-wide association study identifies PALMD as a susceptibility gene for calcific aortic valve stenosis.Semantic proximity Read ↗

Novel NOTCH1 mutations in patients with bicuspid aortic valve disease and thoracic aortic aneurysms.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.