ReviewGenes2021
Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies.
Review in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
32 citing papers in PubMed, 46 citations in OpenAlex.
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Pathogenesis, Diagnosis, and Clinical Management of Aortic Aneurysms: Current Status and Future Perspectives.Reviews in cardiovascular medicine · 2026Review
- Aortic dissection as a disease of vascular wall homeostasis: integrating vasa vasorum-inflammation-metabolism axis for mechanistic insight and clinical translation.Frontiers in immunology · 2026Review
- Importance of localized dilatation and distensibility in identifying determinants of thoracic aortic aneurysm with neural operators.PLoS computational biology · 2025Article
- Exploring thoracic aorta ECM alterations in Marfan syndrome: insights into aorta wall structure.Scientific reports · 2025Article
- A Review on the Role of DNA Methylation in Aortic Disease Associated With Marfan Syndrome.Cardiology research · 2025Review
- Spontaneous Coronary Artery Dissection and a Family History of Aortic Dissection: A Genetic Association Study.Journal of the American Heart Association · 2025Article
- Mechanisms of aortic dissection: From pathological changes to experimental andProgress in materials science · 2025Article
- Short-term disruption of TGF-β signaling in adult mice renders the aorta vulnerable to hypertension-induced dissection.JCI insight · 2025Article
- Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.Thrombosis and haemostasis · 2025Article
- An Eye into the Aorta: The Role of Extracellular Matrix Regulatory GenesInternational journal of molecular sciences · 2024Review
- Multiscale computational model of aortic remodeling following postnatal disruption of TGFβ signaling.Journal of biomechanics · 2024Article
- The Antioxidant/Nitric Oxide-Quenching Agent Cobinamide Prevents Aortic Disease in a Mouse Model of Marfan Syndrome.JACC. Basic to translational science · 2024Article
- Single-cell RNA sequencing and ATAC sequencing identify novel biomarkers for bicuspid aortic valve-associated thoracic aortic aneurysm.Frontiers in cardiovascular medicine · 2024Article
- The role of transforming growth factor beta in bicuspid aortic valve aortopathy.Indian journal of thoracic and cardiovascular surgery · 2023Article
- Early clinical outcomes and molecular smooth muscle cell phenotyping using a prophylactic aortic arch replacement strategy in Loeys-Dietz syndrome.The Journal of thoracic and cardiovascular surgery · 2023Article
- Beyond Aortic Diameter for the Management of Thoracic Aortic Aneurysm: Multidimensional Data for Multidisciplinary Discussion.JACC. Advances · 2023Article
- Computational modelling distinguishes diverse contributors to aneurysmal progression in the Marfan aorta.Proceedings. Mathematical, physical, and engineering sciences · 2023Article
- The Association of Novel Single-Nucleotide Variants in the Collagen Matrix-Encoding GeneLife (Basel, Switzerland) · 2023Article
- FN (Fibronectin)-Integrin α5 Signaling Promotes Thoracic Aortic Aneurysm in a Mouse Model of Marfan Syndrome.Arteriosclerosis, thrombosis, and vascular biology · 2023Article
Corrections and comments
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Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Thoracic aortic aneurysms (TAA) are permanent and localized dilations of the aorta that predispose patients to a life-threatening risk of aortic dissection or rupture. The identification of pathogenic variants that cause hereditary forms of TAA has delineated fundamental molecular processes required to maintain aortic homeostasis. Vascular smooth muscle cells (VSMCs) elaborate and remodel the extracellular matrix (ECM) in response to mechanical and biochemical cues from their environment. Causal variants for hereditary forms of aneurysm compromise the function of gene products involved in the transmission or interpretation of these signals, initiating processes that eventually lead to degeneration and mechanical failure of the vessel. These include mutations that interfere with transduction of stimuli from the matrix to the actin-myosin cytoskeleton through integrins, and those that impair signaling pathways activated by transforming growth factor-β (TGF-β). In this review, we summarize the features of the healthy aortic wall, the major pathways involved in the modulation of VSMC phenotypes, and the basic molecular functions impaired by TAA-associated mutations. We also discuss how the heterogeneity and balance of adaptive and maladaptive responses to the initial genetic insult might contribute to disease.
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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 Socratic graph.