ReviewAorta (Stamford, Conn.)2017
Genes Associated with Thoracic Aortic Aneurysm and Dissection: An Update and Clinical Implications.
Review in Aorta (Stamford, Conn.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
52 citing papers in PubMed, 1 synthesis or guideline pooled it, 115 citations in OpenAlex.
- Fatigue in patients with syndromic heritable thoracic aortic disease: a systematic review of the literature and a qualitative study of patients' experiences and perceptions.Orphanet journal of rare diseases · 2023Pooled it
- Confirmation of the role of pathogenic SMAD6 variants in bicuspid aortic valve-related aortopathy.European journal of human genetics : EJHG · 2019Trial
- Clinical Outcomes of Ascending Aortic Replacement for Aneurysm and the Impact of Centre Volume: A Nationwide Population-Based Study.Interdisciplinary cardiovascular and thoracic surgery · 2026Article
- Mechanotransduction in Marfan Syndrome and Related Aortic Disorders: Insights from Transcriptomic Analyses.Genes · 2026Review
- Chronic pain is associated with disability: results from a large, population-based survey in South Africa.Pain reports · 2026Article
- Exploring patient experiences of pain fatigue and physical activity in syndromic heritable thoracic aortic disease using mixed methods.Scientific reports · 2025Article
- Short-term disruption of TGF-β signaling in adult mice renders the aorta vulnerable to hypertension-induced dissection.JCI insight · 2025Article
- Review
- Quality of life in people with syndromic heritable thoracic aortic disease and their relatives: a qualitative interview based study.Orphanet journal of rare diseases · 2025Article
- Decoding clinical diversity in monogenic TGFBR1 and TGFBR2 mutations: insights into the interplay of molecular mechanisms and hypomorphicity.Frontiers in cell and developmental biology · 2025Review
- Modeling thoracic aortic genetic variants in the zebrafish: useful for predicting clinical pathogenicity?Frontiers in cardiovascular medicine · 2025Review
- Gene expression modulation in human aortic smooth muscle cells under induced physiological mechanical stretch.Scientific reports · 2024Article
- Contributions of Germline and Somatic Mosaic Genetics to Thoracic Aortic Aneurysms in Nonsyndromic Individuals.Journal of the American Heart Association · 2024Article
- Coding and Non-Coding Transcriptomic Landscape of Aortic Complications in Marfan Syndrome.International journal of molecular sciences · 2024Review
- A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated with aortic aneurysms.European journal of human genetics : EJHG · 2024Article
- Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.Basic research in cardiology · 2024Review
- Aortic size distribution among normal, hypertension, bicuspid, and Marfan populations.European heart journal. Imaging methods and practice · 2023Article
- Article
- Article
- Risk Prediction Models for Management of Patients following Acute Aortic Dissection.Aorta (Stamford, Conn.) · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
Abstract
Thoracic aortic aneurysm (TAA) is a lethal disease, with a natural history of enlarging progressively until dissection or rupture occurs. Since the discovery almost 20 years ago that ascending TAAs are highly familial, our understanding of the genetics of thoracic aortic aneurysm and dissection (TAAD) has increased exponentially. At least 29 genes have been shown to be associated with the development of TAAD, the majority of which encode proteins involved in the extracellular matrix, smooth muscle cell contraction or metabolism, or the transforming growth factor-β signaling pathway. Almost one-quarter of TAAD patients have a mutation in one of these genes. In this review, we provide a summary of TAAD-associated genes, associated clinical features of the vasculature, and implications for surgical treatment of TAAD. With the widespread use of next-generation sequencing and development of novel functional assays, the future of the genetics of TAAD is bright, as both novel TAAD genes and variants within the genes will continue to be identified.
Indexed as
Identifiers
What OpenQuestion holds
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.