ArticleVeterinary pathology2010
The haploinsufficient Col3a1 mouse as a model for vascular Ehlers-Danlos syndrome.
Article in Veterinary pathology, 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers.
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Who cites it
29 citing papers in PubMed, 47 citations in OpenAlex.
- Heritable Thoracic Aortic Diseases in Pediatric Practice: From Molecular Mechanisms to Genotype-Informed Management, a Comprehensive Narrative Review.Journal of clinical medicine · 2026Review
- Loss of type III collagen has limited effect on tendon healing in young adult mice.Matrix biology : journal of the International Society for Matrix Biology · 2026Article
- Collagen III Deficiency Following Injury in Female Murine Tendons Alters Matrix Composition, Structure, Organization and Function.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2026Article
- Type III Collagen Regulates Matrix Architecture and Mechanosensing during Wound Healing.The Journal of investigative dermatology · 2025Article
- The Novel Association of a Single Nucleotide Variant in theCurrent issues in molecular biology · 2025Article
- Prognostic and therapeutic implications of tumor-restrictive type III collagen in the breast cancer microenvironment.NPJ breast cancer · 2024Article
- Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.Circulation. Genomic and precision medicine · 2024Article
- Genetic Basis, New Diagnostic Approaches, and Updated Therapeutic Strategies of the Syndromic Aortic Diseases: Marfan, Loeys-Dietz, and Vascular Ehlers-Danlos Syndrome.International journal of environmental research and public health · 2023Review
- Patient-derived extracellular matrix demonstrates role of COL3A1 in blood vessel mechanics.Acta biomaterialia · 2023Article
- Comparative therapeutic strategies for preventing aortic rupture in a mouse model of vascular Ehlers-Danlos syndrome.PLoS genetics · 2022Article
- Four decades in the making: Collagen III and mechanisms of vascular Ehlers Danlos Syndrome.Matrix biology plus · 2021Review
- FMD and SCAD: Sex-Biased Arterial Diseases With Clinical and Genetic Pleiotropy.Circulation research · 2021Article
- Adventitial remodeling protects against aortic rupture following late smooth muscle-specific disruption of TGFβ signaling.Journal of the mechanical behavior of biomedical materials · 2021Article
- Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.Frontiers in genetics · 2021Review
- Targetable cellular signaling events mediate vascular pathology in vascular Ehlers-Danlos syndrome.The Journal of clinical investigation · 2020Article
- Type III collagen is a key regulator of the collagen fibrillar structure and biomechanics of articular cartilage and meniscus.Matrix biology : journal of the International Society for Matrix Biology · 2020Article
- Review
- Article
- Differences between Mice and Humans in Regulation and the Molecular Network of Collagen, Type III, Alpha-1 at the Gene Expression Level: Obstacles that Translational Research Must Overcome.International journal of molecular sciences · 2015Article
- Type III collagen modulates fracture callus bone formation and early remodeling.Journal of orthopaedic research : official publication of the Orthopaedic Research Society · 2015Article
Corrections and comments
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Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Vascular Ehlers-Danlos syndrome is a rare genetic disorder resulting from mutations in the α-1 chain of type III collagen (COL3A1) and manifesting as tissue fragility with spontaneous rupture of the bowel, gravid uterus, or large or medium arteries. The heterozygous Col3a1 knockout mouse was investigated as a model for this disease. The collagen content in the abdominal aorta of heterozygotes was reduced, and functional testing revealed diminishing wall strength of the aorta in these mice. Colons were grossly and histologically normal, but reduced strength and increased compliance of the wall were found in heterozygotes via pressure testing. Although mice demonstrated no life-threatening clinical signs or gross lesions of vascular subtype Ehlers-Danlos syndrome type IV, thorough histological examination of the aorta of heterozygous mice revealed the presence of a spectrum of lesions similar to those observed in human patients. Lesions increased in number and severity with age (0/5 [0%] in 2-month-old males vs 9/9 [100%] in 14-month-old males, P < .05) and were more common in male than female mice (23/26 [88.5%] vs 14/30 [46.7%] in 9- to 21-month-old animals, P < .05). Haploinsufficiency for Col3a1 in mice recapitulates features of vascular Ehlers-Danlos syndrome in humans and can be used as an experimental model.
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Registered trials
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