ArticleProceedings of the National Academy of Sciences of the United States of America2012
Skeletogenic phenotype of human Marfan embryonic stem cells faithfully phenocopied by patient-specific induced-pluripotent stem cells.
Article in Proceedings of the National Academy of Sciences of the United States of America, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers.
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Who cites it
44 citing papers in PubMed, 68 citations in OpenAlex.
- Human stem cell models for Marfan syndrome: aFrontiers in cell and developmental biology · 2024Review
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- The Multiple Functions of Fibrillin-1 Microfibrils in Organismal Physiology.International journal of molecular sciences · 2022Review
- Harnessing a Feasible and VersatileFrontiers in physiology · 2022Article
- Genotype-phenotype correlations of marfan syndrome and related fibrillinopathies: Phenomenon and molecular relevance.Frontiers in genetics · 2022Review
- Hepsin regulates TGFβ signaling via fibronectin proteolysis.EMBO reports · 2021Article
- Skeletal stem and progenitor cells maintain cranial suture patency and prevent craniosynostosis.Nature communications · 2021Article
- An Evolutionary Conserved Signaling Network Between Mouse and Human Underlies the Differential Osteoskeletal Potential of Frontal and Parietal Calvarial Bones.Frontiers in physiology · 2021Article
- Differentiation of Human Induced Pluripotent Stem Cells (hiPSCs) into Osteoclasts.Bio-protocol · 2020Article
- Effects of fibrillin mutations on the behavior of heart muscle cells in Marfan syndrome.Scientific reports · 2020Article
- CIRM tools and technologies: Breaking bottlenecks to the development of stem cell therapies.Stem cells translational medicine · 2020Article
- Versatility of Induced Pluripotent Stem Cells (iPSCs) for Improving the Knowledge on Musculoskeletal Diseases.International journal of molecular sciences · 2020Review
- Human Fibroblasts as a Model for the Study of Bone Disorders.Frontiers in endocrinology · 2020Review
- Aortic "Disease-in-a-Dish": Mechanistic Insights and Drug Development Using iPSC-Based Disease Modeling.Frontiers in cell and developmental biology · 2020Review
- Expression of miRNAs from the ImprintedCells · 2019Article
- The role of insulin as a key regulator of seeding, proliferation, and mRNA transcription of human pluripotent stem cells.Stem cell research & therapy · 2019Article
- Tissue engineered bone mimetics to study bone disorders ex vivo: Role of bioinspired materials.Biomaterials · 2019Review
- Emerging opportunities for induced pluripotent stem cells in orthopaedics.Journal of orthopaedic translation · 2019Review
- Marfan syndrome; A connective tissue disease at the crossroads of mechanotransduction, TGFβ signaling and cell stemness.Matrix biology : journal of the International Society for Matrix Biology · 2018Review
- Mesenchymal Stem Cell Therapy for Bone Regeneration.Clinics in orthopedic surgery · 2018Review
Corrections and comments
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Authors and funding
10 authors at 3 institutions in 2 countries.
Funding
Abstract
Marfan syndrome (MFS) is a heritable connective tissue disorder caused by mutations in the gene coding for FIBRILLIN-1 (FBN1), an extracellular matrix protein. MFS is inherited as an autosomal dominant trait and displays major manifestations in the ocular, skeletal, and cardiovascular systems. Here we report molecular and phenotypic profiles of skeletogenesis in tissues differentiated from human embryonic stem cells and induced pluripotent stem cells that carry a heritable mutation in FBN1. We demonstrate that, as a biological consequence of the activation of TGF-β signaling, osteogenic differentiation of embryonic stem cells with a FBN1 mutation is inhibited; osteogenesis is rescued by inhibition of TGF-β signaling. In contrast, chondrogenesis is not perturbated and occurs in a TGF-β cell-autonomous fashion. Importantly, skeletal phenotypes observed in human embryonic stem cells carrying the monogenic FBN1 mutation (MFS cells) are faithfully phenocopied by cells differentiated from induced pluripotent-stem cells derived independently from MFS patient fibroblasts. Results indicate a unique phenotype uncovered by examination of mutant pluripotent stem cells and further demonstrate the faithful alignment of phenotypes in differentiated cells obtained from both human embryonic stem cells and induced pluripotent-stem cells, providing complementary and powerful tools to gain further insights into human molecular pathogenesis, especially of MFS.
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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.