ArticleHuman molecular genetics2022
Molecular alterations due to Col5a1 haploinsufficiency in a mouse model of classic Ehlers-Danlos syndrome.
Article in Human molecular genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 9 citations in OpenAlex.
- Clinical Variability of Classical Ehlers-Danlos Syndrome: A Family with RareInternational journal of molecular sciences · 2026Review
- Assessment of DNA Variations From Two In Vivo Skeletal Muscle Disorder Mouse Models Using Complementary Square-Wave Voltammetry and LC-MS/MS Analysis.Chembiochem : a European journal of chemical biology · 2026Article
- Knockout of collagen V in development, but not in skeletal maturity, leads to long-term deficits in supraspinatus tendon mechanics in mice.Journal of biomechanics · 2025Article
- Structure, Mechanics, and Mechanobiology of Fibrocartilage Pericellular Matrix Mediated by Type V Collagen.Advanced science (Weinheim, Baden-Wurttemberg, Germany) · 2025Article
- Regulation of Joint Tissues and Joint Function: Is There Potential for Lessons to Be Learned Regarding Regulatory Control from Joint Hypermobility Syndromes?International journal of molecular sciences · 2025Review
- Type V collagen exhibits distinct regulatory activities in TMJ articular disc versus condylar cartilage during postnatal growth and remodeling.Acta biomaterialia · 2024Article
- Dysfunctional latent transforming growth factor β activation after corneal injury in a classical Ehlers-Danlos model.Matrix biology : journal of the International Society for Matrix Biology · 2024Article
- Metabolic pathways, genomic alterations, and post-translational modifications in pulmonary hypertension and cancer as therapeutic targets and biomarkers.Frontiers in pharmacology · 2024Article
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Authors and funding
11 authors at 3 institutions in 1 country.
Funding
Abstract
Type V collagen is a regulatory fibrillar collagen essential for type I collagen fibril nucleation and organization and its deficiency leads to structurally abnormal extracellular matrix (ECM). Haploinsufficiency of the Col5a1 gene encoding α(1) chain of type V collagen is the primary cause of classic Ehlers-Danlos syndrome (EDS). The mechanisms by which this initial insult leads to the spectrum of clinical presentation are not fully understood. Using transcriptome analysis of skin and Achilles tendons from Col5a1 haploinsufficient (Col5a1+/-) mice, we recognized molecular alterations associated with the tissue phenotypes. We identified dysregulation of ECM components including thrombospondin-1, lysyl oxidase, and lumican in the skin of Col5a1+/- mice when compared with control. We also identified upregulation of transforming growth factor β1 (Tgf-β) in serum and increased expression of pSmad2 in skin from Col5a1+/- mice, suggesting Tgf-β dysregulation is a contributor to abnormal wound healing and atrophic scarring seen in classic EDS. Together, these findings support altered matrix to cell signaling as a component of the pathogenesis of the tissue phenotype in classic EDS and point out potential downstream signaling pathways that may be targeted for the treatment of this disease.
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