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Omics · study · 2026

Impaired mechanotransduction in second heart field-derived smooth muscle cells causes NOTCH1 haploinsufficiency-associated aortopathy

Listed in NCBI GEO

Ascending aortic aneurysms (AscAA) are associated with aortic dissection/rupture and arise from genetic, developmental or biomechanical etiologies.

Description

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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From keywords
Life Sciences
Inferred from text
Heart 75%
Provenance · 1 source records, 8 field assertions
SourceKeyLast seenRaw
NCBI GEOGSE33722014 d agoJSON v1
FieldAssertionExtractorEvidence
access_levelsource · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[anatomy].local:anatomy:heartenrichment · NCBI GEOkeyword-concept-rules@1.0.0title+description (75%)
concepts[field].local:field:life-sciencesmapping · NCBI GEOconnector:ncbi_geo@1.0.0
concepts[method].geo_series_type:expression-profiling-by-high-throughput-sequencingsource · NCBI GEOconnector:ncbi_geo@1.0.0/gdstype
concepts[organism].NCBITaxon:9606source · NCBI GEOconnector:ncbi_geo@1.0.0/taxon
descriptionsource · NCBI GEOconnector:ncbi_geo@1.0.0/summary
publication_datesource · NCBI GEOconnector:ncbi_geo@1.0.0
titlesource · NCBI GEOconnector:ncbi_geo@1.0.0/title