ArticleJournal of cellular and molecular medicine2019
An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology.
Article in Journal of cellular and molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 23 citations in OpenAlex.
- The aorta in Marfan syndrome: from molecular mechanisms to mechanobiological dysfunction.Cardiovascular research · 2026Review
- Growth arrest of thoracic aortic aneurysms in aging Marfan mice.American journal of physiology. Heart and circulatory physiology · 2026Article
- Novel Insights into the Aortic Mechanical Properties of Mice Modeling Hereditary Aortic Diseases.Thrombosis and haemostasis · 2025Article
- Coding and Non-Coding Transcriptomic Landscape of Aortic Complications in Marfan Syndrome.International journal of molecular sciences · 2024Review
- Genetically engineered animal models for Marfan syndrome: challenges associated with the generation of pig models for diseases caused by haploinsufficiency.The Journal of reproduction and development · 2022Article
- Sex-Related Effects on Cardiac Development and Disease.Journal of cardiovascular development and disease · 2022Review
- Single-Cell RNA Sequencing Reveals Smooth Muscle Cells Heterogeneity in Experimental Aortic Dissection.Frontiers in genetics · 2022Article
- Deletion of AT1a (Angiotensin II Type 1a) Receptor or Inhibition of Angiotensinogen Synthesis Attenuates Thoracic Aortopathies in Fibrillin1Arteriosclerosis, thrombosis, and vascular biology · 2021Article
- Rare Causes of Arterial Hypertension and Thoracic Aortic Aneurysms-A Case-Based Review.Diagnostics (Basel, Switzerland) · 2021Review
- Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.Scientific reports · 2020Article
- Numerical knockouts-In silico assessment of factors predisposing to thoracic aortic aneurysms.PLoS computational biology · 2020Article
- Estrogen-related mechanisms in sex differences of hypertension and target organ damage.Biology of sex differences · 2020Review
- Assessment of Bones Deficient in Fibrillin-1 Microfibrils Reveals Pronounced Sex Differences.International journal of molecular sciences · 2019Article
- An integrative systems approach identifies novel candidates in Marfan syndrome-related pathophysiology.Journal of cellular and molecular medicine · 2019Article
Corrections and comments
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Authors and funding
11 authors at 8 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Marfan syndrome (MFS) is an autosomal dominant genetic disorder caused by mutations in the FBN1 gene. Although many peripheral tissues are affected, aortic complications, such as dilation, dissection and rupture, are the leading causes of MFS-related mortality. Aberrant TGF-beta signalling plays a major role in the pathophysiology of MFS. However, the contributing mechanisms are still poorly understood. Here, we aimed at identifying novel aorta-specific pathways involved in the pathophysiology of MFS. For this purpose, we employed the Fbn1 under-expressing mgR/mgR mouse model of MFS. We performed RNA-sequencing of aortic tissues of 9-week-old mgR/mgR mice compared with wild-type (WT) mice. With a false discovery rate <5%, our analysis revealed 248 genes to be differentially regulated including 20 genes previously unrelated with MFS-related pathology. Among these, we identified Igfbp2, Ccl8, Spp1, Mylk2, Mfap4, Dsp and H19. We confirmed the expression of regulated genes by quantitative real-time PCR. Pathway classification revealed transcript signatures involved in chemokine signalling, cardiac muscle contraction, dilated and hypertrophic cardiomyopathy. Furthermore, our immunoblot analysis of aortic tissues revealed altered regulation of pSmad2 signalling, Perk1/2, Igfbp2, Mfap4, Ccl8 and Mylk2 protein levels in mgR/mgR vs WT mice. Together, our integrative systems approach identified several novel factors associated with MFS-aortic-specific pathophysiology that might offer potential novel therapeutic targets for MFS.
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