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

Variants in the NOTCH1 gene in patients with aortic coarctation.

Congenital heart disease - 1 Jan 2000

Freylikhman Olga, Tatarinova Tatyana, Smolina Natalia, Zhuk Sergey, Klyushina Alexandra, Kiselev Artem, Moiseeva Olga, Sjoberg Gunnar, Malashicheva Anna, Kostareva Anna

Abstract excerpt

BACKGROUND AND OBJECTIVE: Malformations of the left ventricular outflow tract are one of the most common forms of congenital heart disorders. Recently, it has been shown that mutations in the NOTCH1 gene can lead to bicuspid aortic valve, aortic aneurysm, and hypoplastic left heart syndrome. The aim of our study was to estimate the frequency of NOTCH1 gene mutations/substitutions in patients with aortic...

Read the complete abstract on PubMed

Topics

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

Share to Abnormalities, Multiple
Share to Aortic Valve

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Bicuspid Aortic Valve Disease

Share to Genetic Association Studies

Share to Heart Valve Diseases

Share to Infant

Share to Receptor, Notch1

Source

Identifiers

PMID: 24418111
DOI: 10.1111/chd.12157

Genes

NOTCH1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Variants in the NOTCH1 gene in patients with aortic coarctation.PMID 24418111Read ↗

Search for Rare Copy-Number Variants in Congenital Heart Defects Identifies Novel Candidate Genes and a Potential Role for FOXC1 in Patients With Coarctation of the AortaSemantic proximity Read ↗

Partial atrioventricular canal defect and aortic coarctation associated with variants in GDF1 and NOTCH1 genes: A case report.Semantic proximity Read ↗

Coarctation of the aorta: are genes relevant?Semantic proximity Read ↗

Troponin T Mutation as a Cause of Left Ventricular Systolic Dysfunction in a Young Patient with Previous Surgical Correction of Aortic Coarctation.Semantic proximity Read ↗

Cardiovascular malformations caused by NOTCH1 mutations do not keep left: data on 428 probands with left-sided CHD and their families.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 ↗

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

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

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

Jagged1 gene mutation for abdominal coarctation of the aorta in Alagille syndrome.Semantic proximity Read ↗

Use of a targeted, combinatorial next-generation sequencing approach for the study of bicuspid aortic valve.Semantic proximity Read ↗

MPPH syndrome with aortic coarctation and macrosomia due to CCND2 mutations.Semantic proximity Read ↗

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