ArticleAdvances in experimental medicine and biology2021
Loeys-Dietz Syndrome.
Article in Advances in experimental medicine and biology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 32 papers.
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Who cites it
32 citing papers in PubMed.
- Genetic and molecular mechanisms of hereditary thoracic aortic aneurysm and dissection (Review).Molecular medicine reports · 2026Review
- From Lived Experiences to Systemic Change: Patient Perspectives on the Diagnostic Journey of Loeys-Dietz Syndrome.CJC open · 2026Article
- Diagnosis and Management of Loeys-Dietz Syndrome: Evidence Gaps and Future Directions.Current cardiology reports · 2026Review
- Variability, asymmetry and sexual dimorphism in craniofacial anomalies in Loeys-Dietz syndrome 2: geometric morphometric analysis in mice.Scientific reports · 2026Article
- Rare genetic variants inInternational journal of stroke : official journal of the International Stroke Society · 2025Article
- Diagnosis of skeletal fragility due to Loeys-Dietz syndrome and treatment with romosozumab followed by denosumab.Bone reports · 2025Article
- EndoCompass Project: Research Roadmap for Growth Disorders.Hormone research in paediatrics · 2025Review
- A Novel Mutation ofInternational medical case reports journal · 2025Article
- Renal Artery Stenosis and Mid-Aortic Syndrome in Children-A Review.Journal of clinical medicine · 2024Review
- Hereditary Aortopathies as Cause of Sudden Cardiac Death in the Young: State-of-the-Art Review in Molecular Medicine.Diseases (Basel, Switzerland) · 2024Review
- Article
- Temporal Pattern Analysis of Ultrasound Surveillance Data in Vascular Connective Tissue Disorders.Diagnostics (Basel, Switzerland) · 2024Article
- Giant Morgagni hernia and aorto-pulmonary collaterals in a Loeys-Dietz patient undergoing surgery for aortic root aneurysm and mitral valve prolapse.Interdisciplinary cardiovascular and thoracic surgery · 2024Article
- Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.Journal of the American Heart Association · 2024Article
- Innovation in pathogenesis and management of aortic aneurysm.World journal of experimental medicine · 2024Review
- TGF-β signaling regulates differentiation of MSCs in bone metabolism: disputes among viewpoints.Stem cell research & therapy · 2024Review
- Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management.General thoracic and cardiovascular surgery · 2024Review
- Multiscale computational model of aortic remodeling following postnatal disruption of TGFβ signaling.Journal of biomechanics · 2024Article
- Health-related quality of life in children and adolescents with Marfan syndrome or related disorders: a controlled cross-sectional study.Orphanet journal of rare diseases · 2024Article
- Rare Case of Abdominal Aortic and Multiple Visceral Aneurysms in a Pediatric Patient With PIK3CA Mutation and Vasculitis.Vascular and endovascular surgery · 2024Article
Corrections and comments
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Authors and funding
5 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loeys-Dietz syndrome is an autosomal dominant aortic aneurysm syndrome characterized by multisystemic involvement. The most typical clinical triad includes hypertelorism, bifid uvula or cleft palate and aortic aneurysm with tortuosity. Natural history is significant for aortic dissection at smaller aortic diameter and arterial aneurysms throughout the arterial tree. The genetic cause is heterogeneous and includes mutations in genes encoding for components of the transforming growth factor beta (TGFβ) signalling pathway: TGFBR1, TGFBR2, SMAD2, SMAD3, TGFB2 and TGFB3. Despite the loss of function nature of these mutations, the patient-derived aortic tissues show evidence of increased (rather than decreased) TGFβ signalling. These insights offer new options for therapeutic interventions.
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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.