ArticleNature genetics2017
An iPSC-derived vascular model of Marfan syndrome identifies key mediators of smooth muscle cell death.
Article in Nature genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06257004 (Genome-wide Epistasis for Cardiovascular Severity in Marfan Study), which is not on this map. Cited by 125 papers.
What it found
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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.
Genome-wide Epistasis for Cardiovascular Severity in Marfan Study
Who cites it
125 citing papers in PubMed, 185 citations in OpenAlex.
- Induced Pluripotent Stem Cell-Derived Small-Diameter Vascular Grafts: Scaffold Design, Immune Engineering, and Clinical Translation.Journal of cellular physiology · 2026Review
- Enabling Technologies in Vascular Biology: Microphysiological Systems, Organoids, and Beyond.Arteriosclerosis, thrombosis, and vascular biology · 2026Review
- A multiscale computational model of ascending thoracic aortic aneurysm development in Marfan syndrome for in silico trials.Biomechanics and modeling in mechanobiology · 2026Article
- Selective vulnerability of cerebral vasculature toScience advances · 2026Article
- FGF12 induces aberrant mechanosignaling in aortic smooth muscle cells during thoracic aortic aneurysm formation in Marfan syndrome mice.Experimental & molecular medicine · 2026Article
- Review
- A Review on the Role of DNA Methylation in Aortic Disease Associated With Marfan Syndrome.Cardiology research · 2025Review
- Analysis ofInternational journal of molecular sciences · 2025Article
- Mitochondrial NADNature cardiovascular research · 2025Article
- Inhibition of aortic CX3CR1+ macrophages mitigates thoracic aortic aneurysm progression in Marfan syndrome in mice.The Journal of clinical investigation · 2025Article
- Therapeutic Opportunities of Marfan Syndrome: Current Perspectives.Drug design, development and therapy · 2025Review
- Modeling Thoracic Aortic Dissection Using Patient-Specific iPSCs Reveals VSMC Dysfunction and Extracellular Matrix Dysregulation.Stem cells international · 2025Article
- RNA binding protein with multiple splicing (RBPMS) promotes contractile phenotype splicing in human embryonic stem cell-derived vascular smooth muscle cells.Cardiovascular research · 2024Article
- Applications, Limitations, and Considerations of Clinical Trials in a Dish.Bioengineering (Basel, Switzerland) · 2024Review
- Investigating Inherited Heart Diseases Using Human Induced Pluripotent Stem Cell-Based Models.Life (Basel, Switzerland) · 2024Review
- Phenotypic Heterogeneity of Patients With Marfan Syndrome in Puerto Rico: A Case Series.Cureus · 2024Article
- Injectable biodegradable microcarriers for iPSC expansion and cardiomyocyte differentiation.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2024Article
- Applications, challenges, and prospects of induced pluripotent stem cells for vascular disease.Molecules and cells · 2024Review
- Use of iPSC-Derived Smooth Muscle Cells to Model Physiology and Pathology.Arteriosclerosis, thrombosis, and vascular biology · 2024Review
- Unveiling cellular and molecular aspects of ascending thoracic aortic aneurysms and dissections.Basic research in cardiology · 2024Review
65 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
7 authors at 2 institutions in 2 countries.
Funding
Abstract
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in FBN1, which encodes the extracellular matrix protein fibrillin-1. To investigate the pathogenesis of aortic aneurysms in MFS, we generated a vascular model derived from human induced pluripotent stem cells (MFS-hiPSCs). Our MFS-hiPSC-derived smooth muscle cells (SMCs) recapitulated the pathology seen in Marfan aortas, including defects in fibrillin-1 accumulation, extracellular matrix degradation, transforming growth factor-β (TGF-β) signaling, contraction and apoptosis; abnormalities were corrected by CRISPR-based editing of the FBN1 mutation. TGF-β inhibition rescued abnormalities in fibrillin-1 accumulation and matrix metalloproteinase expression. However, only the noncanonical p38 pathway regulated SMC apoptosis, a pathological mechanism also governed by Krüppel-like factor 4 (KLF4). This model has enabled us to dissect the molecular mechanisms of MFS, identify novel targets for treatment (such as p38 and KLF4) and provided an innovative human platform for the testing of new drugs.
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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.