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From Structure to Phenotype: Impact of Collagen Alterations on Human Health
Open accessAbstract
The extracellular matrix (ECM) is a highly dynamic and heterogeneous structure that plays multiple roles in living organisms. Its integrity and homeostasis are crucial for normal tissue development and organ physiology. Loss or alteration of ECM components turns towards a disease outcome. In this review, we provide a general overview of ECM components with a special focus on collagens, the most abundant and diverse ECM molecules. We discuss the different functions of the ECM including its impact on cell proliferation, migration and differentiation by highlighting the relevance of the bidirectional cross-talk between the matrix and surrounding cells. By systematically reviewing all the hereditary disorders associated to altered collagen structure or resulting in excessive collagen degradation, we point to the functional relevance of the collagen and therefore of the ECM elements for human health. Moreover, the large overlapping spectrum of clinical features of the collagen-related disorders makes in some cases the patient clinical diagnosis very difficult. A better understanding of ECM complexity and molecular mechanisms regulating the expression and functions of the various ECM elements will be fundamental to fully recognize the different clinical entities.
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“With regard to psychiatry, the most robust relationship with joint hypermobility in child cohorts is for ADHD. 18–21”
From No association between joint hypermobility, musculoskeletal pain and neurodevelopmental problems in a school-based sample of 11-year-old children (2025) · cites this paper as [19]
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BackgroundHohsfield, R., Elmeanawy, A., Vagonis, A. M., Ricketts, R. E., Gavrilescu, A., Surucu, Y., Nerone, W. V., Arellano, J. A., Malekzadeh, H., Bengür, F. B., et al. (2026) · Aesthetic Surgery Journal Open Forum · doi:10.1093/asjof/ojag076
Disorders of calcium metabolism
Winter, W. E., & Harris, N. (2020) · Elsevier eBooks · doi:10.1016/b978-0-12-818277-2.00010-8 · Cited by 7
Analysis of COL1A1_1 gene (rs1107946) polymorphism as a risk factor for low birth weight
Shumna, T. Y., Левчук, Т. О., & Kamyshnyi, O. (2019) · Zaporozhye Medical Journal · doi:10.14739/2310-1210.2019.4.173342 · Cited by 1
Metadata
- Authors
- Arseni, L., Lombardi, A., & Orioli, D.
- Affiliations
- German Cancer Research Center (DE)
- Istituto di Genetica Molecolare (IT)
- Corresponding author
- Orioli, Donata
- Venue
- International Journal of Molecular Sciences
- Publisher
- MDPI AG
- Published
- 2018-05-08
- Volume
- 19
- Issue
- 5
- Pages
- 1407
- ISSN
- 1422-0067 (ISSN-L)
- PMC
- PMC5983607
- OpenAlex
- W2800155899
- Cited by
- 186
- References
- 172
- Citations by year
- 2026: 15 · 2025: 31 · 2024: 33 · 2023: 21 · 2022: 23 · 2021: 31 · 2020: 14 · 2019: 12 · 2018: 4
- FWCI
- 2.13
- Type
- journal article
- Language
- en
- Open access
- gold
- doi.org
- Licence
- Locations
- International Journal of Molecular Sciences (publishedVersion, cc-by)
- Europe PMC (PubMed Central) (publishedVersion, cc-by)
- PubMed Central (publishedVersion, cc-by)
- PubMed (publishedVersion)
- DOAJ (DOAJ: Directory of Open Access Journals) (submittedVersion, cc-by-sa)
- Funders
- Deutsches Krebsforschungszentrum
- Fondazione Umberto Veronesi
- Associazione Italiana per la Ricerca sul Cancro (IG 17710, 17710)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Connective tissue disorders research
- Physical Sciences › Materials Science › Biomaterials › Collagen: Extraction and Characterization
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Cell Biology › Cellular Mechanics and Interactions
- Keywords
- collagen, extracellular matrix, collagen degradation, cell proliferation, cell migration, cell differentiation, diagnosis
- MeSH terms
- Cell Movement, Collagen, Extracellular Matrix, Humans, Phenotype, Structure-Activity Relationship, Extracellular Matrix Proteins, Genetic Diseases, Inborn, Cell Proliferation
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