ArticleThe American journal of pathology2017
Deficits in Col5a2 Expression Result in Novel Skin and Adipose Abnormalities and Predisposition to Aortic Aneurysms and Dissections.
Article in The American journal of pathology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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Who cites it
27 citing papers in PubMed, 40 citations in OpenAlex.
- Steroid hormone antagonism affords vascular protection in a mouse model of vascular Ehlers-Danlos syndrome.JCI insight · 2026Article
- Association between serum type-I, -III and -IV collagen concentrations and inguinal hernia status in piglets.Journal of veterinary research · 2026Article
- Cell-based cytokine patch for localized immunomodulation and accelerated healing in rodent and porcine wounds.Nature biomedical engineering · 2026Article
- Novel VSMC-associated biomarkers in intracranial aneurysm pathogenesis: a multi-omics and machine learning study.BMC neurology · 2026Article
- Cell-dependent contributions of thrombospondin-1 to the rupture of abdominal aortic aneurysm in mice.Cardiovascular research · 2026Article
- Short-term disruption of TGF-β signaling in adult mice renders the aorta vulnerable to hypertension-induced dissection.JCI insight · 2025Article
- Whole-exome sequencing uncovers the genetic complexity of bicuspid aortic valve in families with early-onset complications.American journal of human genetics · 2024Article
- Whole Exome Sequencing Uncovers the Genetic Complexity of Bicuspid Aortic Valve in Families with Early Onset Complications.medRxiv : the preprint server for health sciences · 2024Article
- Collagens Regulating Adipose Tissue Formation and Functions.Biomedicines · 2023Review
- Comprehensive analysis to identify pseudogenes/lncRNAs-hsa-miR-200b-3p-COL5A2 network as a prognostic biomarker in gastric cancer.Hereditas · 2022Article
- Upregulation of key genes Eln and Tgfb3 were associated with the severity of cardiac hypertrophy.BMC genomics · 2022Article
- Fibrillar Collagen Variants in Spontaneous Coronary Artery Dissection.JAMA cardiology · 2022Article
- Article
- Involvement of COL5A2 and TGF-β1 in pathological scarring.Experimental and therapeutic medicine · 2021Article
- Article
- Animal Models of Ehlers-Danlos Syndromes: Phenotype, Pathogenesis, and Translational Potential.Frontiers in genetics · 2021Review
- COL5A2 Promotes Proliferation and Invasion in Prostate Cancer and Is One of Seven Gleason-Related Genes That Predict Recurrence-Free Survival.Frontiers in oncology · 2021Article
- Genomic analysis reveals selection signatures of the Wannan Black pig during domestication and breeding.Asian-Australasian journal of animal sciences · 2020Article
- Bioactive fragments of laminin and collagen chains: lesson from the testis.Reproduction (Cambridge, England) · 2020Review
- Comprehensive Analysis of Non-coding RNA Profiles of Exosome-Like Vesicles From the Protoscoleces and Hydatid Cyst Fluid ofFrontiers in cellular and infection microbiology · 2020Article
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Authors and funding
10 authors at 3 institutions in 1 country.
Funding
Abstract
Classic Ehlers-Danlos syndrome (cEDS) is characterized by fragile, hyperextensible skin and hypermobile joints. cEDS can be caused by heterozygosity for missense mutations in genes COL5A2 and COL5A1, which encode the α2(V) and α1(V) chains, respectively, of collagen V, and is most often caused by COL5A1 null alleles. However, COL5A2 null alleles have yet to be associated with cEDS or other human pathologies. We previously showed that mice homozygous null for the α2(V) gene Col5a2 are early embryonic lethal, whereas haploinsufficiency caused aberrancies of adult skin, but not a frank cEDS-like phenotype, as skin hyperextensibility at low strain and dermal cauliflower-contoured collagen fibril aggregates, two cEDS hallmarks, were absent. Herein, we show that ubiquitous postnatal Col5a2 knockdown results in pathognomonic dermal cauliflower-contoured collagen fibril aggregates, but absence of skin hyperextensibility, demonstrating these cEDS hallmarks to arise separately from loss of collagen V roles in control of collagen fibril growth and nucleation events, respectively. Col5a2 knockdown also led to loss of dermal white adipose tissue (WAT) and markedly decreased abdominal WAT that was characterized by miniadipocytes and increased collagen deposition, suggesting α2(V) to be important to WAT development/maintenance. More important, Col5a2 haploinsufficiency markedly increased the incidence and severity of abdominal aortic aneurysms, and caused aortic arch ruptures and dissections, indicating that α2(V) chain deficits may play roles in these pathologies in humans.
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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.