ArticleAmerican journal of human genetics2014
MFAP5 loss-of-function mutations underscore the involvement of matrix alteration in the pathogenesis of familial thoracic aortic aneurysms and dissections.
Article in American journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 68 papers, 1 of them a synthesis that pooled it.
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Who cites it
68 citing papers in PubMed, 1 synthesis or guideline pooled it, 136 citations in OpenAlex.
- Systematic Review of Studies That Have Evaluated Screening Tests in Relatives of Patients Affected by Nonsyndromic Thoracic Aortic Disease.Journal of the American Heart Association · 2018Pooled it
- Regulation of PDE5 expression in human aorta and thoracic aortic aneurysms.Scientific reports · 2019Trial
- Genetic and molecular mechanisms of hereditary thoracic aortic aneurysm and dissection (Review).Molecular medicine reports · 2026Review
- Microfibril Denudation Marks Early Aortic Vulnerability in SMAD3 Variant Carriers: A Multigenerational Study.Arteriosclerosis, thrombosis, and vascular biology · 2026Article
- Fibroblast-Derived Microfibrillar-Associated Protein 5 Exerts Cardioprotective Effects After Myocardial Infarction by Activating the NOTCH2 Signaling in Cardiomyocytes.Journal of the American Heart Association · 2026Article
- Connective tissue disorders and cardiac arrhythmias: genetic pathways, mechanistic bridges, and clinical implications.Frontiers in cardiovascular medicine · 2026Review
- Article
- Novel Aortic Dissection Model Links Endothelial Dysfunction and Immune Infiltration.Circulation research · 2025Article
- Transcriptional regulation of postnatal aortic development.Cells & development · 2024Article
- A Transcriptomic Comparative Study of Cranial Vasculature.Translational stroke research · 2024Article
- C3 glomerulonephritis with genetically confirmed C3 deficiency in a pediatric patient: a case report.Childhood kidney diseases · 2024Article
- Heritable thoracic aortic disease: a literature review on genetic aortopathies and current surgical management.General thoracic and cardiovascular surgery · 2024Review
- Differences in Cardiometabolic Proteins in Pregnancy Prioritize Relevant Targets of Preeclampsia.Arteriosclerosis, thrombosis, and vascular biology · 2024Article
- Animal Models, Pathogenesis, and Potential Treatment of Thoracic Aortic Aneurysm.International journal of molecular sciences · 2024Review
- Current understanding of the genetics of thoracic aortic disease.Vessel plus · 2024Article
- Microfibrillar-associated protein 5 suppresses adipogenesis by inhibiting essential coactivator of PPARγ.Scientific reports · 2023Article
- Article
- Extracellular matrix analysis of fibrosis: A step towards tissue engineering for urethral stricture disease.PloS one · 2023Article
- Smad3 regulates smooth muscle cell fate and mediates adverse remodeling and calcification of the atherosclerotic plaque.Nature cardiovascular research · 2022Article
- The role of vascular smooth muscle cells in the development of aortic aneurysms and dissections.European journal of clinical investigation · 2022Review
8 more citing papers are in PubMed but not listed here.
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Authors and funding
22 authors at 8 institutions in 2 countries.
Funding
Abstract
Thoracic aortic aneurysm and dissection (TAAD) is an autosomal-dominant disorder with major life-threatening complications. The disease displays great genetic heterogeneity with some forms allelic to Marfan and Loeys-Dietz syndrome, and an important number of cases still remain unexplained at the molecular level. Through whole-exome sequencing of affected members in a large TAAD-affected family, we identified the c.472C>T (p.Arg158(∗)) nonsense mutation in MFAP5 encoding the extracellular matrix component MAGP-2. This protein interacts with elastin fibers and the microfibrillar network. Mutation screening of 403 additional probands identified an additional missense mutation of MFAP5 (c.62G>T [p.Trp21Leu]) segregating with the disease in a second family. Functional analyses performed on both affected individual's cells and in vitro models showed that these two mutations caused pure or partial haploinsufficiency. Thus, alteration of MAGP-2, a component of microfibrils and elastic fibers, appears as an initiating mechanism of inherited TAAD.
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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.