# Collagen XII is Commonly Downregulated in the Dermal Extracellular Matrix in Diverse Skin Pathologies

**Authors:** Luís Martins, Mariana D. Malta, Sara Chaves, Hugo Osório, Christina Guttmann‐Gruber, Thomas Kocher, Alexandra P. Marques

PMC · DOI: 10.1002/mco2.70282 · MedComm · 2025-10-20

## Full-text entities

- **Genes:** COL7A1 (collagen type VII alpha 1 chain) [NCBI Gene 1294] {aka EBD1, EBDCT, EBR1, NDNC8}, COL6A3 (collagen type VI alpha 3 chain) [NCBI Gene 1293] {aka BTHLM1, BTHLM1C, DYT27, UCMD1, UCMD1C}, CDK1 (cyclin dependent kinase 1) [NCBI Gene 983] {aka CDC2, CDC28A, P34CDC2}, MAPK1 (mitogen-activated protein kinase 1) [NCBI Gene 5594] {aka ERK, ERK-2, ERK2, ERT1, MAPK2, NS13}, COL6A1 (collagen type VI alpha 1 chain) [NCBI Gene 1291] {aka BTHLM1, BTHLM1A, OPLL, UCHMD1, UCHMD1A}, COL12A1 (collagen type XII alpha 1 chain) [NCBI Gene 1303] {aka BA209D8.1, BTHLM2, COL12A1L, DJ234P15.1, EDSMYP, UCMD2}, COL3A1 (collagen type III alpha 1 chain) [NCBI Gene 1281] {aka EDS4A, EDSVASC, PMGEDSV}, CSNK2A1 (casein kinase 2 alpha 1) [NCBI Gene 1457] {aka CK2A1, CKII, Cka1, Cka2, OCNDS}, COL6A2 (collagen type VI alpha 2 chain) [NCBI Gene 1292] {aka BTHLM1, BTHLM1B, PP3610, UCMD1, UCMD1B}, MYH14 (myosin heavy chain 14) [NCBI Gene 79784] {aka DFNA4, DFNA4A, FP17425, MHC16, MYH17, NMHC II-C}, CDK4 (cyclin dependent kinase 4) [NCBI Gene 1019] {aka CMM3, MCPH31, PSK-J3}, MAPK14 (mitogen-activated protein kinase 14) [NCBI Gene 1432] {aka CSBP, CSBP1, CSBP2, CSPB1, EXIP, Mxi2}
- **Diseases:** Ehlers-Danlos syndrome (MESH:D004535), dermal inflammation (MESH:D007249), inflammatory skin diseases (MESH:D012871), cancers (MESH:D009369), vitiligo (MESH:D014820), esophageal SCC (MESH:D000077277), cutaneous (MESH:D018366), gastric cancer (MESH:D013274), skin cancers (MESH:D012878), DEB (MESH:D016108), psoriasis (MESH:D011565), SCC (MESH:D002294), epidermal diseases (MESH:D004814), blistering (MESH:D001768), metastasis (MESH:D009362), rare diseases (MESH:D035583), carcinogenic (MESH:D011230), skin fragility (MESH:C536183), myopathic (MESH:D009135), PV (MESH:D010392), sevRDEB (MESH:D045169)
- **Species:** Homo sapiens (human, species) [taxon 9606]
- **Cell lines:** DEB — Homo sapiens (Human), Epidermolysis bullosa, Finite cell line (CVCL_3694)

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## References

10 references — full list in the complete paper: https://tomesphere.com/paper/PMC12538003/full.md

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Source: https://tomesphere.com/paper/PMC12538003