ReviewMatrix biology : journal of the International Society for Matrix Biology2018
Elastin-driven genetic diseases.
Review in Matrix biology : journal of the International Society for Matrix Biology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
52 citing papers in PubMed, 95 citations in OpenAlex.
- Novel C-terminal frameshift mutation of ELN causes non-stenotic high-renin hypertension and systemic arterial dysplasia: implications for preventing aortic catastrophes.Hypertension research : official journal of the Japanese Society of Hypertension · 2026Article
- The tympanic covering layer contributes to basilar membrane elasticity potentially influencing human frequency resolution and speech perception.Journal of anatomy · 2026Article
- Article
- Identification of common genetic features and pathways for osteoporosis with frozen shoulder by integrated bioinformatics analysis and machine learning.The Korean journal of physiology & pharmacology : official journal of the Korean Physiological Society and the Korean Society of Pharmacology · 2026Article
- Case Report: Newly discovered ELN gene mutation in congenital heart disease: case analysis and review.Frontiers in pediatrics · 2026Article
- Striae gravidarum in the Han Chinese pregnant population: identifying genetic markers and risk factors through a prospective cohort study.BMC pregnancy and childbirth · 2025Article
- Pulmonary Artery Stenting for Widespread Distal Congenital Stenoses.JACC. Case reports · 2025Article
- Article
- Material properties of the embryonic small intestine during buckling morphogenesis.Acta biomaterialia · 2025Article
- A Deep Dive Into the Potential Antiaging Effects of Colla Corii Asini on the Skin: A Comparative Study.Journal of cosmetic dermatology · 2025Article
- RFC2 may contribute to the pathogenicity of Williams syndrome revealed in a zebrafish model.Journal of genetics and genomics = Yi chuan xue bao · 2024Article
- Molecular convergence of risk variants for congenital heart defects leveraging a regulatory map of the human fetal heart.medRxiv : the preprint server for health sciences · 2024Article
- RiboScreenInternational journal of molecular sciences · 2024Article
- A non-canonical role of ELN protects from cellular senescence by limiting iron-dependent regulation of gene expression.Redox biology · 2024Article
- Genetic Testing for Supravalvar Aortic Stenosis: What to Do When It Is Not Williams Syndrome.Journal of the American Heart Association · 2024Article
- Severe atopic dermatitis with cutis laxa caused by a variant in theJAAD case reports · 2024Article
- Presenilin-1 in smooth muscle cells facilitates hypermuscularization in elastin aortopathy.iScience · 2024Article
- Pulmonary fibroelastosis - A review.Matrix biology : journal of the International Society for Matrix Biology · 2023Review
- Elastic fibers define embryonic tissue stiffness to enable buckling morphogenesis of the small intestine.Biomaterials · 2023Article
- Novel mutation in ELN gene causes cardiac abnormalities and inguinal hernia: case report.BMC pediatrics · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
Abstract
Elastic fibers provide recoil to tissues that undergo repeated deformation, such as blood vessels, lungs and skin. Composed of elastin and its accessory proteins, the fibers are produced within a restricted developmental window and are stable for decades. Their eventual breakdown is associated with a loss of tissue resiliency and aging. Rare alteration of the elastin (ELN) gene produces disease by impacting protein dosage (supravalvar aortic stenosis, Williams Beuren syndrome and Williams Beuren region duplication syndrome) and protein function (autosomal dominant cutis laxa). This review highlights aspects of the elastin molecule and its assembly process that contribute to human disease and also discusses potential therapies aimed at treating diseases of elastin insufficiency.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.