ArticleJournal of cardiovascular translational research2017
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Article in Journal of cardiovascular translational research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
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Who cites it
19 citing papers in PubMed, 28 citations in OpenAlex.
- Preclinical modeling of Loeys-Dietz syndrome: insights into mechanisms and therapy.Orphanet journal of rare diseases · 2026Review
- Combined genome and transcriptome analysis identifies molecular signatures of aortic disease in patients with Marfan syndrome.Journal of molecular and cellular cardiology plus · 2025Article
- Short-term disruption of TGF-β signaling in adult mice renders the aorta vulnerable to hypertension-induced dissection.JCI insight · 2025Article
- Bi-allelic variants in COQ8B, a gene involved in the biosynthesis of coenzyme Q10, lead to non-syndromic retinitis pigmentosa.American journal of human genetics · 2024Article
- Tracking an Elusive Killer: State of the Art of Molecular-Genetic Knowledge and Laboratory Role in Diagnosis and Risk Stratification of Thoracic Aortic Aneurysm and Dissection.Diagnostics (Basel, Switzerland) · 2022Review
- Identification of a common polymorphism inHGG advances · 2022Article
- A Novel Human Biospecimen Repository for Clinical and Molecular Investigation of Thoracic Aortopathy.Cardiogenetics · 2021Article
- Characterization of the Rate of Aortic Dilation in Young Patients with Thoracic Aortic Aneurysm.Pediatric cardiology · 2021Article
- A Novel RecurrentArteriosclerosis, thrombosis, and vascular biology · 2020Article
- Reactive Oxygen Species and Oxidative Stress in the Pathogenesis and Progression of Genetic Diseases of the Connective Tissue.Antioxidants (Basel, Switzerland) · 2020Review
- Collagen XV, a multifaceted multiplexin present across tissues and species.Matrix biology plus · 2020Article
- Exome sequencing of extreme phenotypes in bronchopulmonary dysplasia.European journal of pediatrics · 2020Article
- The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.Biomolecules · 2020Review
- Aortic "Disease-in-a-Dish": Mechanistic Insights and Drug Development Using iPSC-Based Disease Modeling.Frontiers in cell and developmental biology · 2020Review
- Basement membrane collagens and disease mechanisms.Essays in biochemistry · 2019Review
- Human aortic aneurysm genomic dictionary: is it possible?Indian journal of thoracic and cardiovascular surgery · 2019Article
- Exploring genetic modifiers of Gaucher disease: The next horizon.Human mutation · 2018Review
- Genes Associated with Thoracic Aortic Aneurysm and Dissection: 2018 Update and Clinical Implications.Aorta (Stamford, Conn.) · 2018Article
- Thoracic Aneurysms and Dissections: Towards a Further and Better Knowledge.Journal of cardiovascular translational research · 2017Article
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8 authors at 2 institutions in 1 country.
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Abstract
Thoracic aortic aneurysm (TAA) is a genetic disease predisposing to aortic dissection. It is important to identify the genetic modifiers controlling penetrance and expressivity to improve clinical prognostication. Exome sequencing was performed in 27 subjects with syndromic or familial TAA presenting with extreme phenotypes (15 with severe TAA; 12 with mild or absent TAA). Family-based analysis of a subset of the cohort identified variants, genes, and pathways segregating with TAA severity among three families. A rare missense variant in ADCK4 (p.Arg63Trp) segregated with mild TAA in each family. Genes and pathways identified in families were further investigated in the entire cohort using the optimal unified sequence kernel association test, finding significance for the gene COL15A1 (p = 0.025) and the retina homeostasis pathway (p = 0.035). Thus, we identified candidate genetic modifiers of TAA severity by exome-based study of extreme phenotypes, which may lead to improved risk stratification and development of new medical therapies.
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