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 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signaling

16 Jun 2008

Abstract excerpt

Congenital aortic valve stenosis (AVS), coarctation of the aorta (COA) and hypoplastic left heart syndrome (HLHS) are congenital cardiovascular malformations that all involve the left ventricular outflow tract (LVOT). They are presumably caused by a similar developmental mechanism involving the developing endothelium. The exact etiology for most LVOT malformations is unknown, but a strong genetic component has...

Read the complete abstract on PubMed

Topics

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

Share to Congenital heart defects research
Share to Congenital Heart Disease Studies
Share to Developmental Biology and Gene Regulation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Identifiers

PMID: 18593716
DOI: 10.1093/hmg/ddn187

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

NOTCH1 mutations in individuals with left ventricular outflow tract malformations reduce ligand-induced signalingPMID 18593716Read ↗

NOTCH1 missense alleles associated with left ventricular outflow tract defects exhibit impaired receptor processing and defective EMTSemantic proximity Read ↗

Developmental outflow tract abnormalities of Jag1-deficient mice are associated with abnormal ventricular activation and desynchronized contractionSemantic proximity Read ↗

Overlapping but distinct roles for NOTCH receptors in human cardiovascular disease.Semantic proximity Read ↗

Galnt1 Is Required for Normal Heart Valve Development and Cardiac FunctionSemantic proximity Read ↗

Endothelial deletion of murine Jag1 leads to valve calcification and congenital heart defects associated with Alagille syndromeSemantic proximity Read ↗

Loss of function, missense, and intronic variants in <i>NOTCH1</i> confer different risks for left ventricular outflow tract obstructive heart defects in two European cohortsSemantic proximity Read ↗

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.Semantic proximity Read ↗

Molecular determinants of left and right outflow tract obstructionSemantic proximity Read ↗

Noonan syndrome-associated biallelic LZTR1 mutations cause cardiac hypertrophy and vascular malformations in zebrafish.Semantic proximity Read ↗

Familial deafness, congenital heart defects, and posterior embryotoxon caused by cysteine substitution in the first epidermal-growth-factor-like domain of jagged 1.Semantic proximity Read ↗

GWAS-driven Pathway Analyses and Functional Validation Suggest <i>GLIS1</i> as a Susceptibility Gene for Mitral Valve ProlapseSemantic proximity Read ↗

Notch Signaling in Vascular DevelopmentSemantic proximity Read ↗

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