ArticleAmerican journal of human genetics2018
Variants of Unknown Significance in Genes Associated with Heritable Thoracic Aortic Disease Can Be Low Penetrant "Risk Variants".
Article in American journal of human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers.
What it found
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Who cites it
22 citing papers in PubMed, 35 citations in OpenAlex.
- Genetic yield of targeted diagnostic screening in a large European cohort of 368 thoracic aortic dissection patients.European journal of human genetics : EJHG · 2026Article
- Genetic Causes of Thoracic Aortic Aneurysm: A Review.Methodist DeBakey cardiovascular journal · 2026Review
- Growth Rate Assessed by Vascular Deformation Mapping Predicts Type B Aortic Dissection in Marfan Syndrome.Journal of the American Heart Association · 2025Article
- Inducing hypertension inFrontiers in cardiovascular medicine · 2025Article
- Growth Rate Assessed by Vascular Deformation Mapping predicts Type B Aortic Dissection in Marfan Syndrome.medRxiv : the preprint server for health sciences · 2024Article
- Identification of Variants of Uncertain Significance in the Genes Associated with Thoracic Aortic Disease in Russian Patients with Nonsyndromic Sporadic Subtypes of the Disorder.International journal of molecular sciences · 2024Article
- Understanding genomic medicine for thoracic aortic disease through the lens of induced pluripotent stem cells.Frontiers in cardiovascular medicine · 2024Review
- Double Heterozygous Pathogenic Variants in theGenes · 2023Article
- Frail Silk: Is the Hughes-Stovin Syndrome a Behçet Syndrome Subtype with Aneurysm-Involved Gene Variants?International journal of molecular sciences · 2023Review
- Risk Factors for Thoracic Aortic Dissection.Genes · 2022Review
- Current state and future directions of genomic medicine in aortic dissection: A path to prevention and personalized care.Seminars in vascular surgery · 2022Review
- Genomic insights in ascending aortic size and distensibility.EBioMedicine · 2022Article
- Unusual combination of acute aortic dissection, Mayer-Rokitansky-Küster-Hauser syndrome, and 46,XX gonadal dysgenesis: A case report.Frontiers in cardiovascular medicine · 2022Article
- Update on the genetic risk for thoracic aortic aneurysms and acute aortic dissections: implications for clinical care.The Journal of cardiovascular surgery · 2021Review
- Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review.Diagnostics (Basel, Switzerland) · 2021Review
- Rare deleterious variants of NOTCH1, GATA4, SMAD6, and ROBO4 are enriched in BAV with early onset complications but not in BAV with heritable thoracic aortic disease.Molecular genetics & genomic medicine · 2020Article
- Loss of smooth muscle α-actin effects on mechanosensing and cell-matrix adhesions.Experimental biology and medicine (Maywood, N.J.) · 2020Article
- The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.Biomolecules · 2020Review
- Intracellular retention of mutant lysyl oxidase leads to aortic dilation in response to increased hemodynamic stress.JCI insight · 2019Article
- Clinical Implications of Identifying Pathogenic Variants in Individuals With Thoracic Aortic Dissection.Circulation. Genomic and precision medicine · 2019Article
Corrections and comments
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
Abstract
Thoracic aortic aneurysms leading to acute aortic dissections are a preventable cause of premature deaths if individuals at risk can be identified. Individuals with early-onset aortic dissections without a family history or syndromic features have an increased burden of rare genetic variants of unknown significance (VUSs) in genes with pathogenic variants for heritable thoracic aortic disease (HTAD). We assessed the role of VUSs in the development of disease using both in vitro enzymatic assays and mouse models. VUSs in LOX and MYLK identified in individuals with acute aortic dissections were assayed to determine whether they disrupted enzymatic activity. A subset of VUSs reduced enzymatic activity compared to the wild-type proteins but less than pathogenic variants. Additionally, a Myh11 variant, p.Arg247Cys, which does not cause aortic disease in either humans or mice, was crossed with the Acta2
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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.