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BACKGROUND: Calcific aortic valve stenosis (CAVS) is the most prevalent valvular heart disease in developed countries with significant morbidity and mortality. Given the poor understanding of the pathophysiological processes leading to CAVS, we utilized a joint non-targeted metab...

2020-02-03 | MTBLS1267 | MetaboLights
This study investigates lipid dysregulation in calcific aortic valve stenosis (CAVS) by analyzing lipid profiles in valve tissues from 99 patients across different disease severities (mild, moderate, severe) using liquid chromatography-mass spectrometry (LC-MS). The results reveal distinct lipid alt...
2025-01-28 | MTBLS11713 | MetaboLights
We explored gene expression profile of human aortic valves in patients with or without aortic stenosis. The dataset that we generated constitutes a large-scale quantitative measurements of gene expression in normal and stenotic human valves. The goal was to compare gene expression levels between the...
ORGANISM(S): Homo sapiens 
The objective is to identify new disease genes involved in calcific aortic valve stenosis (CAVS) by screening newly identified candidate genes. The recruitment of patients with CAVS has been achieved by l’institut du thorax (Nantes, France). DNA from the selected patients has been analysed by target...
Purpose: Calcific aortic valve stenosis (AS) is a fatal disease with currently no medical therapy. Some genes were associated with AS, but the genetic architecture of the disease has yet to be discovered. The objective of this study was to combine genome-wide association studies (GWAS) and gene expr...
ORGANISM(S): Homo sapiens 
The objective is to identify new genes involved in calcific aortic valve stenosis (CAVS) by screening the exome of at least 20 patients with familial CAVS. The recruitment of patients with CAVS has been achieved by l’institut du thorax (Nantes, France). DNA from the selected patients has been analys...
GWAS on Calcific Aortic Valve Stenosis
GWAS on Calcific Aortic Valve Stenosis
Females are underrepresented in studies of calcific aortic valve stenosis (CAVS), leading to delay in timely intervention and increased mortality. Histopathology demonstrates female CAVS presents with decreased valvular calcification but increased fibrosis and severity of symptoms. CAVS plasma sampl...
ORGANISM(S): Homo sapiens (Human) 
2025-11-24 | PXD064030 | Pride
PBMCs of patients with AVS having TET2 mutations versus those with no known CHIP mutations were utilized for scRNA-seq
ORGANISM(S): Homo sapiens 
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