ArticleNature communications2017
CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome.
Article in Nature communications, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 51 papers, 1 of them a synthesis that pooled it.
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Who cites it
51 citing papers in PubMed, 1 synthesis or guideline pooled it, 99 citations in OpenAlex.
- Protective effect of anthrax toxin receptor 2 polymorphism rs4333130 against the risk of ankylosing spondylitis.Medicine · 2020Pooled it
- Longitudinal plasma proteomics separates diagnostic differences from progression-linked changes in Alzheimer's disease.medRxiv : the preprint server for health sciences · 2026Article
- Dynamic S-acylation controls CMG2 maturation extracellular matrix regulation and anthrax toxin susceptibility in vivo.Nature communications · 2026Article
- Immunomodulation by collagen VI across fibrotic and tumor microenvironmental contexts.Histology and histopathology · 2026Review
- An update on the landscape of collagen bioactive fragments.The FEBS journal · 2026Review
- Identification and structural characterization of anthrax toxin receptor 2 as the Clostridium perfringens NetF receptor.Nature communications · 2026Article
- Article
- Epigenome-wide analysis identifies DNA methylation mediators of treatment-related cardiometabolic risk in survivors of childhood cancer.Nature communications · 2026Article
- Tendon Dysfunction in Collagen VI-Related Myopathies: Novel Mechanistic Insights with Therapeutic Potential.International journal of molecular sciences · 2025Review
- Large-scale serum protein biomarkers discovery associated with function and clinical milestones in Duchenne muscular dystrophy.Nature communications · 2025Observational
- Injury-induced intestinal stem cell renewal requires capillary morphogenesis gene 2.EMBO molecular medicine · 2025Article
- Intestinal injury and repair: insights from hyaline fibromatosis syndrome.EMBO molecular medicine · 2025Article
- Article
- Matrix-associated extracellular vesicles modulate smooth muscle cell adhesion and directionality by presenting collagen VI.bioRxiv : the preprint server for biology · 2025Article
- Collagen turnover during cervical remodeling involves both intracellular and extracellular collagen degradation pathways†.Biology of reproduction · 2025Article
- A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia.Human genetics · 2025Article
- TLN1: an oncogene associated with tumorigenesis and progression.Discover oncology · 2024Review
- Clinical, mechanistic, and therapeutic landscape of cutaneous fibrosis.Science translational medicine · 2024Review
- Endotrophin, a Key Marker and Driver for Fibroinflammatory Disease.Endocrine reviews · 2024Review
- ANTXR1 deficiency promotes fibroblast senescence: implications for GAPO syndrome as a progeroid disorder.Scientific reports · 2024Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 4 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Loss-of-function mutations in capillary morphogenesis gene 2 (CMG2/ANTXR2), a transmembrane surface protein, cause hyaline fibromatosis syndrome (HFS), a severe genetic disorder that is characterized by large subcutaneous nodules, gingival hypertrophy and severe painful joint contracture. Here we show that CMG2 is an important regulator of collagen VI homoeostasis. CMG2 loss of function promotes accumulation of collagen VI in patients, leading in particular to nodule formation. Similarly, collagen VI accumulates massively in uteri of Antxr2
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Registered trials
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