ArticleScience translational medicine2010
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Article in Science translational medicine, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 107 papers.
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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.
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Who cites it
107 citing papers in PubMed, 238 citations in OpenAlex.
- A de novo missense variant in MIDEAS results in increased deacetylase activity of the MiDAC HDAC complex causing a neurodevelopmental syndrome.Nature communications · 2025Article
- The clinical phenotypes and therapeutic strategies for stiff skin syndrome: a case series with literature review.Orphanet journal of rare diseases · 2025Review
- Control of epithelial tissue organization by mRNA localization.Nature communications · 2025Article
- Novel FBN1 intron variant causes isolated ectopia lentis via in-frame exon skipping.Journal of human genetics · 2025Article
- ProteinMolecules (Basel, Switzerland) · 2025Review
- Fibrillin-1 G234D mutation in the hybrid1 domain causes tight skin associated with dysregulated elastogenesis and increased collagen cross-linking in mice.Matrix biology : journal of the International Society for Matrix Biology · 2025Article
- Clinical, mechanistic, and therapeutic landscape of cutaneous fibrosis.Science translational medicine · 2024Review
- Asprosin: its function as a novel endocrine factor in metabolic-related diseases.Journal of endocrinological investigation · 2024Review
- Causative role of a novel intronic indel variant in FBN1 and maternal germinal mosaicism in Marfan syndrome.Orphanet journal of rare diseases · 2024Article
- Article
- Noncanonical WNT5A controls the activation of latent TGF-β to drive fibroblast activation and tissue fibrosis.The Journal of clinical investigation · 2024Article
- Multi-organ phenotypes in mice lacking latent TGFβ binding protein 2 (LTBP2).Developmental dynamics : an official publication of the American Association of Anatomists · 2024Review
- Extracellular matrix molecules associated with lymphatic vessels in health and disease.Histology and histopathology · 2024Review
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies.Diagnostics (Basel, Switzerland) · 2023Review
- Role of elastic fiber degradation in disease pathogenesis.Biochimica et biophysica acta. Molecular basis of disease · 2023Review
- A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 ofAdvanced biomedical research · 2023Article
- The extracellular matrix glycoprotein fibrillin-1 in health and disease.Frontiers in cell and developmental biology · 2023Review
- The fibrillinopathies: New insights with focus on the paradigm of opposing phenotypes for both FBN1 and FBN2.Human mutation · 2022Review
- Animal Models of Systemic Sclerosis: Using Nailfold Capillaroscopy as a Potential Tool to Evaluate Microcirculation and Microangiopathy: A Narrative Review.Life (Basel, Switzerland) · 2022Review
- Targeting TGF-β signal transduction for fibrosis and cancer therapy.Molecular cancer · 2022Review
47 more citing papers are in PubMed but not listed here.
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Authors and funding
18 authors at 5 institutions in 4 countries.
Funding
Abstract
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding. Ordered polymers of fibrillin-1 (termed microfibrils) initiate elastic fiber assembly and bind to and regulate the activation of the profibrotic cytokine transforming growth factor-beta (TGFbeta). Altered cell-matrix interactions in SSS accompany excessive microfibrillar deposition, impaired elastogenesis, and increased TGFbeta concentration and signaling in the dermis. The observation of similar findings in systemic sclerosis, a more common acquired form of scleroderma, suggests broad pathogenic relevance.
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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.