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

Phenotypic findings associated with variation in elastin.

HGG advances - 9 Jan 2025

Justice Anne, Kelly Melissa A, Bellus Gary, Green Joshua D, Zaidi Raza, Kerrins Taylor, Josyula Navya, Luperchio Teresa R, Kozel Beth A, Williams Marc S

Abstract excerpt

Variation in the elastin gene (ELN) may contribute to connective tissue disease beyond the known disease associations of supravalvar aortic stenosis and cutis laxa. Exome data from MyCode Community Health Initiative participants were analyzed for ELN rare variants (mean allele frequency <1%, not currently annotated as benign). Participants with variants of interest underwent phenotyping by dual chart review using...

Topics

Join the communities discussing this publication.

Aged
Elastin
ELN gene
Genetic Predisposition to Disease
Genetic Variation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Source

Open in PubMed Open full text

Identifiers

PMID: 39604264
DOI: 10.1016/j.xhgg.2024.100388
PMCID: PMC11730535

Genes

ELN

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

0

discussions

0

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Phenotypic findings associated with variation in elastin.PMID 39604264Read ↗

Phenotypic Findings Associated with Variation in ElastinSemantic proximity Read ↗

Aortic aneurysmal disease and cutis laxa caused by defects in the elastin gene.Semantic proximity Read ↗

Supravalvular aortic stenosis - Novel pathogenic ELN variant in siblings with a wide spectrum of clinical cardiovascular features and a long follow-up from infancy to adulthood.Semantic proximity Read ↗

Collagen & aortopathy gene abnormalities in Ehlers Danlos Syndrome (EDS) & sporadic Thoracic Aortic Aneurysm & Dissection (TAAD)Semantic proximity Read ↗

Elastin-driven genetic diseases.Semantic proximity Read ↗

Diagnostic Exome Sequencing Identifies a Novel Gene, EMILIN1, Associated with Autosomal-Dominant Hereditary Connective Tissue Disease.Semantic proximity Read ↗

Clinical implications of identifying pathogenic variants in aortic dissection patients with whole exome sequencingSemantic proximity Read ↗

Clinical features and complications of Loeys-Dietz syndrome: A systematic review.Semantic proximity Read ↗

Highly variable cutis laxa resulting from a dominant splicing mutation of the elastin gene.Semantic proximity Read ↗

Non-canonical splice variants in thoracic aortic dissection cases and Marfan syndrome with negative genetic testingSemantic proximity Read ↗

Using bioinformatic tools to identify high-risk variants of uncertain significance in aortopathy genes that increase aortic dissection risk.Semantic proximity Read ↗

Genetic Problems, Diagnosis, and Cardiovascular Manifestations of Loeys-Dietz Syndrome.Semantic proximity Read ↗

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