Affinage

COL10A1

Collagen alpha-1(X) chain · UniProt Q03692

Length
680 aa
Mass
66.2 kDa
Annotated
2026-06-09
83 papers in source corpus 31 papers cited in narrative 30 extracted findings
Cross-family judge vs UniProt: Affinage preferred faithfulness: 5/5 claims corpus-supported (100%)

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COL10A1 encodes the alpha-1 chain of type X collagen, a short-chain collagen whose expression is restricted to the hypertrophic zone of growth cartilage and is first detectable in the mouse embryo at E13.5, preceding endochondral ossification (PMID:8477738). Cell-type-specific transcription is governed by a 150-bp distal cis-enhancer organized around RUNX2, which binds tandem TGTGGG/TGTGGC sites in a manner required but not sufficient for hypertrophic chondrocyte-specific expression (PMID:21887706); DLX5 and DDX5 bind the same enhancer and act cooperatively with RUNX2 to drive hypertrophic differentiation (PMID:37492739, PMID:38715834), while GADD45beta enhances transcription via an MTK1/MKK3/6/p38 axis acting on C/EBPbeta at the proximal promoter (PMID:20048163). The gene is held off in articular chondrocytes through CpG methylation of the promoter (PMID:18759285) and is further constrained by negative regulators including TBX5 and miR-218 (PMID:33303006, PMID:34276786). The mature alpha1(X) chain trimerizes through its C-terminal NC1 domain, and disease-causing NC1 mutations cause Schmid metaphyseal chondrodysplasia (MCDS) and spondylometaphyseal dysplasia through two mechanisms: nonsense alleles trigger nonsense-mediated decay producing haploinsufficiency, whereas mutant chains that escape decay misfold, are retained in the ER, activate the unfolded protein response, and dominantly interfere with assembly of wild-type chains into trimers (PMID:15880705, PMID:17403716, PMID:15024737, PMID:20872587, PMID:8782043); ER stress is the central pathogenic driver and is pharmacologically reversible with carbamazepine in MCDS mice (PMID:30010889). In cancer, COL10A1 is re-expressed in tumor cells and cancer-associated fibroblasts, where it signals through DDR2 to activate FAK and MEK/ERK pathways driving proliferation, invasion, and EMT (PMID:33324550, PMID:36530986), lies downstream of a TGF-beta1/SOX9 transcriptional axis promoting metastasis (PMID:30154451), and in CAFs is stabilized by METTL3-mediated m6A methylation and drives M2 macrophage polarization through a COL10A1/CD18/JAK1/STAT3 feedback loop (PMID:36246404, PMID:40826474).

Mechanistic history

Synthesis pass · year-by-year structured walk · 14 steps
  1. 1991 Medium

    Localizing COL10A1 to a defined human chromosomal region established the molecular genetic foothold needed to test its candidacy in skeletal disease.

    Evidence PCR cloning, chromosomal in situ hybridization, and somatic cell hybrid Southern analysis

    PMID:2037056

    Open questions at the time
    • No functional or expression data
    • Did not link the locus to any phenotype
  2. 1993 High

    Defining the gene structure and demonstrating expression restricted to the hypertrophic zone before ossification established type X collagen as a marker and effector of chondrocyte hypertrophy.

    Evidence Gene isolation/sequencing, RNase protection, RACE-PCR, and in situ hybridization in mouse

    PMID:8477738

    Open questions at the time
    • Did not identify trans-acting regulators of the cell-type-specific promoter
    • Functional role of the collagen in the matrix not defined
  3. 1996 Medium

    Identifying NC1-clustered mutations segregating with MCDS established COL10A1 as the disease gene and hinted at a mechanism beyond simple haploinsufficiency.

    Evidence SSCP and direct sequencing in MCDS families, with N-terminal NC2 and SMD-associated variants found in follow-up family studies

    PMID:8004099 PMID:8782043 PMID:9067753 PMID:9837818

    Open questions at the time
    • Mechanism (dominant-negative vs haploinsufficiency) not functionally resolved
    • No biochemical test of trimerization
    • NC2-domain variants lacked functional validation
  4. 2007 High

    In vitro trimerization assays plus a transgenic model resolved the two distinct pathogenic mechanisms — NMD-driven haploinsufficiency versus ER-retained dominant-negative chains — that explain MCDS allele behavior.

    Evidence In vitro assembly assays, patient cartilage mRNA analysis, transgenic FCdel mouse, and UPR marker analysis

    PMID:15024737 PMID:15880705 PMID:17403716

    Open questions at the time
    • Did not establish whether ER stress is the proximate cause of the growth-plate phenotype
  5. 2010 High

    Quantitative chain-mixing assays confirmed that truncated mutant alpha1(X) chains reduce wild-type trimerization, cementing the dominant-negative model for a subset of alleles.

    Evidence Coupled in vitro transcription/translation with SDS-PAGE quantification of mixed wild-type/mutant trimers

    PMID:20872587

    Open questions at the time
    • Did not connect assembly defect to in vivo skeletal phenotype for this specific allele
  6. 2010 High

    Dissecting GADD45beta/p38/C/EBPbeta signaling defined an inducible transcriptional input controlling Col10a1 at the proximal promoter independent of factor binding.

    Evidence Luciferase reporters, ChIP, dominant-negative kinase constructs, and siRNA in chondrocyte lines

    PMID:20048163

    Open questions at the time
    • Integration with the RUNX2-centered distal enhancer not resolved
    • Physiological trigger of GADD45beta induction unclear
  7. 2011 High

    Demonstrating direct RUNX2 binding to tandem sites in the 150-bp enhancer, required but insufficient alone, established RUNX2 as the core of the hypertrophic enhancer and implied cofactor requirements.

    Evidence EMSA, ChIP, reporter assays, and transgenic mice with site-directed enhancer mutagenesis

    PMID:21887706

    Open questions at the time
    • Identity of the cooperating factors needed for sufficiency unresolved at this stage
  8. 2014 Medium

    Cataloguing additional enhancer-bound factors framed Col10a1 regulation as a multi-protein, RUNX2-centered complex rather than a single-factor switch.

    Evidence Yeast one-hybrid, mass spectrometry of nuclear complexes, EMSA, and ChIP

    PMID:25321476

    Open questions at the time
    • Functional consequence of Cox-2 enhancer binding not resolved
    • Hierarchy among the bound factors unknown
  9. 2018 High

    Pharmacologic rescue with carbamazepine in MCDS knock-in mice established ER stress from misfolded mutant protein as the central, druggable pathogenic mechanism.

    Evidence Gene-targeted mouse, carbamazepine treatment, growth-plate histology, ER stress markers, bone measurement

    PMID:30010889

    Open questions at the time
    • Did not test translation to human patients
    • Mechanism of carbamazepine-induced autophagy of mutant protein not detailed here
  10. 2018 High

    Placing COL10A1 downstream of a TGF-beta1/SOX9 axis extended the gene from a skeletal differentiation marker to an effector of cancer EMT and metastasis.

    Evidence EMSA, ChIP, reporter assays, phospho-Smad2 western blot, knockdown, and nude mouse metastasis model in gastric cancer

    PMID:30154451

    Open questions at the time
    • How secreted COL10A1 mechanistically drives EMT downstream not defined in this study
  11. 2021 Medium

    Identifying COL10A1-DDR2 binding with FAK pathway activation defined a receptor-level mechanism for COL10A1's pro-tumor signaling in epithelial cancers.

    Evidence Co-IP, gain/loss-of-function, and FAK pathway western blot in lung adenocarcinoma

    PMID:33324550

    Open questions at the time
    • Single lab; reciprocal/structural validation of binding absent
    • DDR2 collagen-receptor engagement not mapped to a COL10A1 domain
  12. 2022 Medium

    Replicating the DDR2 interaction with MEK/ERK readout in pancreatic cancer generalized the DDR2 signaling axis across tumor types.

    Evidence Co-IP, overexpression/knockdown, MEK/ERK and EMT marker western blots in PDAC

    PMID:36530986

    Open questions at the time
    • Whether FAK and MEK/ERK arms are parallel or sequential not resolved
  13. 2022 Medium

    Demonstrating METTL3-driven m6A stabilization of COL10A1 mRNA in CAFs identified a post-transcriptional control point governing its stromal re-expression.

    Evidence MeRIP, METTL3 knockdown, COL10A1 rescue, functional assays, and xenograft in LUSC

    PMID:36246404

    Open questions at the time
    • m6A reader mediating stability not identified
    • Single lab
  14. 2025 Medium

    Defining a COL10A1/CD18/JAK1/STAT3 axis driving M2 macrophage polarization, reinforced by a TGF-beta/RUNX2 feedback loop, established COL10A1-positive CAFs as an immunomodulatory hub in the tumor microenvironment.

    Evidence Single-cell/bulk/spatial transcriptomics, proteomics, in vivo models, and drug screening (NU7441) in colorectal cancer

    PMID:40826474

    Open questions at the time
    • Direct COL10A1-CD18 binding not biochemically dissected
    • Generality beyond colorectal cancer untested

Open questions

Synthesis pass · forward-looking unresolved questions
  • How the skeletal RUNX2/DLX5/DDX5 enhancer logic relates to the aberrant stromal re-expression and DDR2/STAT3 signaling that COL10A1 drives in cancer remains unresolved.
  • No unified model linking developmental silencing/activation to tumor re-expression
  • Several cancer partner interactions (P4HB, INHBA, VSNL1, ANXA5) rest on single Co-IP studies without reciprocal or structural validation
  • Domain requirements for extracellular COL10A1 signaling not mapped

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 4
Localization
GO:0005576 extracellular region 3 GO:0005783 endoplasmic reticulum 2 GO:0031012 extracellular matrix 1
Pathway
R-HSA-1266738 Developmental Biology 4 R-HSA-1474244 Extracellular matrix organization 4 R-HSA-1643685 Disease 4 R-HSA-162582 Signal Transduction 3 R-HSA-8953897 Cellular responses to stimuli 2
Partners
ANXA5DDR2DDX5DLX5INHBAP4HBRUNX2SOX9
Complex memberships
type X collagen homotrimer

Evidence

Reading pass · 30 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2011 Runx2 directly binds two tandem-repeat sites (TGTGGG-TGTGGC) within the 150-bp Col10a1 distal cis-enhancer; this interaction is required but not sufficient for hypertrophic chondrocyte-specific Col10a1 expression in vivo. Mutating the Runx2 sites abolishes cell-specific reporter expression in transgenic mice. EMSA, chromatin immunoprecipitation (ChIP), transfection reporter assays, transgenic mouse studies with site-directed mutagenesis Journal of bone and mineral research High 21887706
2010 GADD45beta enhances Col10a1 transcription via the MTK1/MKK3/6/p38 signaling axis acting on the transactivation domain TAD4 of C/EBPbeta, which is bound to the proximal Col10a1 promoter. GADD45beta knockdown prevents p38 phosphorylation and decreases Col10a1 mRNA without affecting C/EBPbeta binding to the promoter. Luciferase reporter assay, ChIP, dominant-negative kinase constructs, siRNA knockdown, co-expression in chondrocyte cell lines The Journal of biological chemistry High 20048163
2014 The 150-bp Col10a1 cis-enhancer binds multiple transcription factors including AP1, MEF2, NFAT, Runx1, TBX5, and Cox-2. Cox-2 interacts with the enhancer and is expressed at high levels in hypertrophic chondrocytes, supporting a Cox-2-containing, Runx2-centered regulatory complex for Col10a1 transcription during chondrocyte hypertrophy. In silico sequence analysis, yeast one-hybrid assay, mass spectrometry of nuclear extract complexes, EMSA, ChIP Cell death & disease Medium 25321476
2007 Missense mutations in the COL10A1 NC1 domain disrupt collagen X trimerization and secretion in vitro, leading to intracellular degradation of mutant chains. Nonsense mutations result in complete removal of mutant mRNA by nonsense-mediated decay in MCDS cartilage, indicating functional haploinsufficiency as the disease mechanism for that class. In vitro expression and assembly assays, cell transfection studies, mRNA analysis of patient cartilage biopsies Human mutation High 15024737 15880705 17403716
2007 Nonsense/frameshift COL10A1 mutations can produce truncated, misfolded alpha1(X) chains that are retained in the endoplasmic reticulum, activate the unfolded protein response (UPR), and exert a dominant-negative effect by interfering with assembly of wild-type alpha1(X) chains into trimers. Transgenic mice bearing the equivalent mutation display dose-dependent expansion of the hypertrophic zone and disrupted chondrocyte differentiation. In vitro transcription/translation trimer assembly assay, transgenic mouse model (FCdel), ER retention immunofluorescence, UPR marker analysis Human molecular genetics High 17403716
2010 A frameshift COL10A1 mutation (p.G579fsX611) produces truncated alpha1(X) chains that fail to spontaneously trimerize and reduce trimerization of co-translated wild-type alpha1(X) chains from 57% to 33%, demonstrating a dominant-negative effect on collagen X assembly. In vitro coupled transcription and translation, SDS-PAGE trimer assembly assay with wild-type and mutant chain mixing Journal of orthopaedic research High 20872587
2025 A COL10A1 p.W651fsX666 frameshift mutation produces truncated alpha1(X) chains that disrupt trimerization of normal/wild-type collagen X chains in vitro, consistent with a dominant-negative mechanism contributing to SMCD phenotype variability. In vitro trimerization analysis, mRNA decay assays, Sanger sequencing, family cohort analysis Human molecular genetics Medium 40398448
2018 Treatment of MCDS mice (Col10a1 p.Y632X knock-in) with carbamazepine reduces ER stress in growth plate chondrocytes, restores growth plate architecture, increases bone growth, and corrects hip distortion, establishing that ER stress from misfolded mutant COL10A1 protein is a central pathogenic mechanism. Gene-targeted mouse model, carbamazepine treatment, growth plate histology, ER stress marker analysis, bone measurement Human molecular genetics High 30010889
2018 SOX9 directly binds the COL10A1 gene promoter and activates its transcription. TGF-β1 treatment increases Smad2 phosphorylation and upregulates both SOX9 and COL10A1 expression, placing COL10A1 downstream of a TGF-β1–SOX9 transcriptional axis that promotes EMT, migration, and invasion in gastric cancer cells. EMSA, ChIP assay, promoter reporter assay, TGF-β1 stimulation with phospho-Smad2 western blot, knockdown functional assays, nude mouse metastasis model Cell death & disease High 30154451
2008 COL10A1 expression during chondrogenesis of mesenchymal stem cells correlates with demethylation of two specific CpG sites in the COL10A1 promoter. Human articular chondrocytes, which do not express COL10A1, maintain these CpG sites methylated, indicating methylation-based epigenetic silencing of COL10A1 in normal articular cartilage. Combined Bisulfite Restriction Analysis (COBRA), bisulfite sequencing of genomic DNA from human articular chondrocytes, MSCs, and MSC-derived chondrocytes Arthritis and rheumatism Medium 18759285
2020 COL10A1 interacts with DDR2 (discoidin domain receptor 2) and activates the downstream FAK signaling pathway to promote lung adenocarcinoma cell proliferation and invasion. Co-immunoprecipitation, gain- and loss-of-function studies in LUAD cell lines, in vitro and in vivo functional assays, FAK pathway western blot Frontiers in oncology Medium 33324550
2022 COL10A1 interacts with DDR2 and activates the MEK/ERK signaling pathway, leading to EMT and accelerated proliferation and migration in pancreatic ductal adenocarcinoma cells. Co-immunoprecipitation, overexpression and knockdown functional assays, MEK/ERK pathway western blot, EMT marker analysis Frontiers in oncology Medium 36530986
2021 COL10A1 directly interacts with P4HB (prolyl 4-hydroxylase beta polypeptide) in breast cancer cells, and knockdown of P4HB reverses the pro-proliferative and pro-invasive effects of COL10A1 overexpression, placing P4HB downstream of COL10A1. Co-immunoprecipitation, overexpression and knockdown functional assays (CCK-8, colony formation, wound healing, transwell) Medical science monitor Low 33637669
2022 METTL3-mediated m6A methylation of COL10A1 mRNA in cancer-associated fibroblasts increases its mRNA stability and expression. COL10A1 secreted by CAFs promotes LUSC cell proliferation and suppresses apoptosis-induced oxidative stress; knockdown of METTL3 reduces m6A modification and stability of COL10A1 mRNA. MeRIP (methylated RNA immunoprecipitation), METTL3 knockdown, COL10A1 overexpression rescue, in vitro functional assays, in vivo xenograft Oxidative medicine and cellular longevity Medium 36246404
2023 DLX5 promotes Col10a1 expression through direct interaction with the Col10a1 cis-enhancer and cooperates with RUNX2 (which has adjacent binding sites in the enhancer) to control chondrocyte hypertrophy. Forced DLX5 expression upregulates RUNX2, and knockdown of Dlx5 decreases COL10A1 expression in hypertrophic chondrocytes. Dual-luciferase reporter assay, ChIP, overexpression and knockdown in MCT/ATDC5 cells, murine OA model analysis Genes & diseases Medium 37492739
2024 DDX5 (DEAD-box helicase 5) directly interacts with the Col10a1 cis-enhancer, promotes its activity, and positively regulates Col10a1 expression and chondrocyte hypertrophic differentiation; knockdown of Ddx5 reduces RUNX2 levels and impairs chondrogenic maturation markers. Dual-luciferase reporter assay, ChIP, qRT-PCR, western blot, alcian blue/ALP/alizarin red staining in ATDC5 knockdown lines American journal of translational research Medium 38715834
2021 miR-218 directly targets COL10A1, MEF2C, and RUNX2 in human MSC, as confirmed by miR reporter assay and miR pulldown assay. Gain of miR-218 attenuates hypertrophic markers including COL10A1 but also activates WNT/β-catenin signaling, which counteracts the anti-hypertrophic effect. miR reporter assay in HEK293T, miR pulldown assay, western blot, functional differentiation assays in SaOS-2 and human MSC Stem cell research & therapy Medium 33303006
2021 Tbx5 functions as a negative regulator of Col10a1 expression: overexpression of Tbx5 decreases Col10a1 expression, knockdown of Tbx5 increases it, and overexpression in ColX-Tbx5 transgenic mice decreases Col10a1 expression and mildly delays ossification. qRT-PCR, stable overexpression and knockdown cell lines, transgenic mouse generation, ALP staining Frontiers in genetics Medium 34276786
2013 Downregulation of carbonic anhydrase IX (Car9) in primary mouse chondrocytes induces Col10a1 mRNA expression via a mechanism that is HIF-2α-independent but involves the cAMP/PKA pathway (PKA inhibition augments, PDE inhibition and cAMP analog suppress the Car9-siRNA-induced Col10a1 increase). siRNA knockdown of Car9, forced CA IX expression, pharmacologic modulation of cAMP/PKA pathway, qRT-PCR in primary mouse chondrocytes PloS one Medium 23441228
1993 The mouse Col10a1 gene has three exons and two introns spanning 7 kb, with at least two TATA boxes and multiple transcription start sites producing alternatively promoted transcripts. Col10a1 mRNA (~3.0 kb) is first detected at embryonic day 13.5, preceding endochondral ossification, and is restricted by in situ hybridization to the hypertrophic zone of growth cartilage. Gene isolation and sequencing, RNase protection assay, primer extension, RACE-PCR, RT-PCR, in situ hybridization, SDS-PAGE of pepsinized protein European journal of biochemistry High 8477738
1991 The COL10A1 gene locus was mapped to the q21-q22 region of human chromosome 6 using PCR-based cloning, in situ hybridization of metaphase chromosomes, and Southern analysis of somatic cell hybrid DNAs. PCR with consensus primers from chicken sequence, in situ hybridization, somatic cell hybrid Southern analysis FEBS letters Medium 2037056
1996 Point mutations and small deletions in the NC1 (C-terminal non-collagenous) domain of COL10A1 cause Schmid metaphyseal chondrodysplasia (MCDS). Frame-shift mutations predict truncated proteins, and their distribution argues against simple haploinsufficiency, suggesting an additional mutation mechanism (later shown to be dominant-negative). PCR-SSCP analysis of COL10A1 coding and promoter regions from MCDS patients and their families; direct sequencing Journal of medical genetics Medium 8782043
1994 Three additional heterozygous mutations (two frameshifts, one missense C591R) in the NC1 domain of COL10A1 segregate with MCDS in affected families, confirming COL10A1 as the MCDS disease locus and suggesting the NC1 domain is critical for chain association and trimer formation. SSCP analysis, DNA sequencing, family segregation analysis Human molecular genetics Medium 8004099
1997 De novo missense mutations in the N-terminal globular (NC2) domain of COL10A1 can cause MCDS, demonstrating that domains other than the NC1 domain are functionally important for type X collagen. Direct sequencing of the full COL10A1 coding region in MCDS families Human mutation Low 9067753
1998 A heterozygous missense mutation in COL10A1 (Gly595Glu) co-segregates with spondylometaphyseal dysplasia in one family, expanding the spectrum of type X collagenopathy beyond MCDS to include vertebral abnormalities. Direct sequencing of the entire COL10A1 coding region, family segregation analysis American journal of human genetics Low 9837818
2021 COL10A1 promotes choroidal neovascularization (CNV): COL10A1 is upregulated in retinal endothelial cells under hypoxia, siRNA knockdown suppresses proliferation and tube formation of HRMECs, and intravitreal injection of anti-collagen X monoclonal antibody reduces CNV leakage and lesion area in a mouse model. Downstream genes SNAIL1 and ANGPT2 are downregulated upon COL10A1 knockdown. siRNA knockdown in vitro, in vivo intravitreal antibody injection with FFA and immunofluorescence, western blot, qPCR Microvascular research Medium 34520774
2025 COL10A1-positive CAFs promote colorectal cancer EMT via COL10A1 secretion and induce M2 macrophage polarization through a COL10A1/CD18/JAK1/STAT3 signaling axis. M2 macrophages in turn enhance COL10A1 expression in fibroblasts via TGF-β/RUNX2, forming a pro-tumorigenic feedback loop. Multi-omics integration (single-cell, bulk, spatial transcriptomics, proteomics), molecular assays, in vivo models, drug screening (NU7441 reduces COL10A1 and reverses EMT/M2 polarization) Journal of experimental & clinical cancer research Medium 40826474
2024 COL10A1 directly interacts with INHBA in prostate cancer cells and facilitates PI3K and AKT phosphorylation, promoting cell proliferation, migration, and invasion. This interaction was confirmed by immunoprecipitation, and rescue experiments validated the epistatic relationship. Co-immunoprecipitation, CCK-8, colony formation, Transwell, wound-healing, flow cytometry, rescue/overexpression studies, mouse models Journal of cellular and molecular medicine Low 39656597
2022 VSNL1 binds COL10A1 in colorectal cancer cells (confirmed by co-IP), and upregulation of COL10A1 can reverse the anti-proliferative and anti-invasive effects of VSNL1 knockdown, placing COL10A1 downstream of VSNL1. Co-immunoprecipitation, CCK-8, EdU assay, transwell assay, western blot Annals of clinical and laboratory science Low 35181619
2024 COL10A1 interacts with ANXA5 in head and neck squamous cell carcinoma cells; interference with either COL10A1 or ANXA5 suppresses malignant progression and promotes ferroptosis, with reduction of GPX4 and increased reactive oxygen species indicating regulation of the ferroptotic pathway. RT-qPCR, western blot, immunohistochemistry, immunofluorescence for GPX4, flow cytometry for ROS, GSH/GSSG ELISA, functional proliferation/migration/invasion assays Translational cancer research Low 41815119

Source papers

Stage 0 corpus · 83 papers · ranked by NIH iCite citations
Year Title Journal Citations PMID
2018 TGF-β1-SOX9 axis-inducible COL10A1 promotes invasion and metastasis in gastric cancer via epithelial-to-mesenchymal transition. Cell death & disease 158 30154451
2014 Identification and characterization of the novel Col10a1 regulatory mechanism during chondrocyte hypertrophic differentiation. Cell death & disease 97 25321476
2008 Correlation of COL10A1 induction during chondrogenesis of mesenchymal stem cells with demethylation of two CpG sites in the COL10A1 promoter. Arthritis and rheumatism 77 18759285
2024 M2 macrophage-derived exosomal miR-26b-5p regulates macrophage polarization and chondrocyte hypertrophy by targeting TLR3 and COL10A1 to alleviate osteoarthritis. Journal of nanobiotechnology 71 38374072
1996 Mutations within the gene encoding the alpha 1 (X) chain of type X collagen (COL10A1) cause metaphyseal chondrodysplasia type Schmid but not several other forms of metaphyseal chondrodysplasia. Journal of medical genetics 67 8782043
2011 Runx2 contributes to murine Col10a1 gene regulation through direct interaction with its cis-enhancer. Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 65 21887706
2007 Prostaglandin PGE2 at very low concentrations suppresses collagen cleavage in cultured human osteoarthritic articular cartilage: this involves a decrease in expression of proinflammatory genes, collagenases and COL10A1, a gene linked to chondrocyte hypertrophy. Arthritis research & therapy 60 17683641
1993 Intron-exon structure, alternative use of promoter and expression of the mouse collagen X gene, Col10a-1. European journal of biochemistry 60 8477738
2005 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Human mutation 59 15880705
2007 COL10A1 nonsense and frame-shift mutations have a gain-of-function effect on the growth plate in human and mouse metaphyseal chondrodysplasia type Schmid. Human molecular genetics 58 17403716
1994 Additional mutations of type X collagen confirm COL10A1 as the Schmid metaphyseal chondrodysplasia locus. Human molecular genetics 58 8004099
2012 COL10A1 expression is elevated in diverse solid tumor types and is associated with tumor vasculature. Future oncology (London, England) 57 22894674
2008 Specific expression of Cre recombinase in hypertrophic cartilage under the control of a BAC-Col10a1 promoter. Matrix biology : journal of the International Society for Matrix Biology 55 18692570
2011 Generation and characterization of Col10a1-mcherry reporter mice. Genesis (New York, N.Y. : 2000) 50 21328521
2013 A col10a1:nlGFP transgenic line displays putative osteoblast precursors at the medaka notochordal sheath prior to mineralization. Developmental biology 48 23769979
2020 Upregulated Collagen COL10A1 Remodels the Extracellular Matrix and Promotes Malignant Progression in Lung Adenocarcinoma. Frontiers in oncology 47 33324550
1997 Mutations in the N-terminal globular domain of the type X collagen gene (COL10A1) in patients with Schmid metaphyseal chondrodysplasia. Human mutation 45 9067753
2024 LncRNA HAGLROS promotes breast cancer evolution through miR-135b-3p/COL10A1 axis and exosome-mediated macrophage M2 polarization. Cell death & disease 43 39198393
2010 GADD45beta enhances Col10a1 transcription via the MTK1/MKK3/6/p38 axis and activation of C/EBPbeta-TAD4 in terminally differentiating chondrocytes. The Journal of biological chemistry 40 20048163
2005 Schmid type of metaphyseal chondrodysplasia and COL10A1 mutations--findings in 10 patients. American journal of medical genetics. Part A 39 16088909
1998 Mutation of the type X collagen gene (COL10A1) causes spondylometaphyseal dysplasia. American journal of human genetics 39 9837818
2020 High plasma levels of COL10A1 are associated with advanced tumor stage in gastric cancer patients. World journal of gastroenterology 34 32587446
1992 SSCP and segregation analysis of the human type X collagen gene (COL10A1) in heritable forms of chondrodysplasia. American journal of human genetics 33 1329505
2021 Collagen Type X Alpha 1 (COL10A1) Contributes to Cell Proliferation, Migration, and Invasion by Targeting Prolyl 4-Hydroxylase Beta Polypeptide (P4HB) in Breast Cancer. Medical science monitor : international medical journal of experimental and clinical research 30 33637669
2016 Deferoxamine Suppresses Collagen Cleavage and Protease, Cytokine, and COL10A1 Expression and Upregulates AMPK and Krebs Cycle Genes in Human Osteoarthritic Cartilage. International journal of rheumatology 28 28042296
2022 Cancer-Associated Fibroblasts Hinder Lung Squamous Cell Carcinoma Oxidative Stress-Induced Apoptosis via METTL3 Mediated m6A Methylation of COL10A1. Oxidative medicine and cellular longevity 26 36246404
2020 Effect of miR-26a-5p on gastric cancer cell proliferation, migration and invasion by targeting COL10A1. European review for medical and pharmacological sciences 26 32096148
1991 Cloning of human alpha 1(X) collagen DNA and localization of the COL10A1 gene to the q21-q22 region of human chromosome 6. FEBS letters 26 2037056
2018 Carbamazepine reduces disease severity in a mouse model of metaphyseal chondrodysplasia type Schmid caused by a premature stop codon (Y632X) in the Col10a1 gene. Human molecular genetics 25 30010889
2013 Establishment of a bone-specific col10a1:GFP transgenic zebrafish. Molecules and cells 25 23852131
2006 BAC constructs in transgenic reporter mouse lines control efficient and specific LacZ expression in hypertrophic chondrocytes under the complete Col10a1 promoter. Histochemistry and cell biology 25 17051351
2023 DLX5 promotes Col10a1 expression and chondrocyte hypertrophy and is involved in osteoarthritis progression. Genes & diseases 22 37492739
2020 MiR-218 affects hypertrophic differentiation of human mesenchymal stromal cells during chondrogenesis via targeting RUNX2, MEF2C, and COL10A1. Stem cell research & therapy 21 33303006
2004 Identification of four novel COL10A1 missense mutations in schmid metaphyseal chondrodysplasia: further evidence that collagen X NC1 mutations impair trimer assembly. Human mutation 19 15024737
2020 RNAseq-Based Prioritization Revealed COL6A5, COL8A1, COL10A1 and MIR146A as Common and Differential Susceptibility Biomarkers for Psoriasis and Psoriatic Arthritis: Confirmation from Genotyping Analysis of 1417 Italian Subjects. International journal of molecular sciences 17 32326527
2014 Col10a1-Runx2 transgenic mice with delayed chondrocyte maturation are less susceptible to developing osteoarthritis. American journal of translational research 17 25628784
2022 COL10A1-DDR2 axis promotes the progression of pancreatic cancer by regulating MEK/ERK signal transduction. Frontiers in oncology 16 36530986
1998 Assignment of gene responsible for progressive pseudorheumatoid dysplasia to chromosome 6 and examination of COL10A1 as candidate gene. European journal of human genetics : EJHG 16 9781029
2024 Krüppel-like factor 4 modulates the miR-101/COL10A1 axis to inhibit renal fibrosis after AKI by regulating epithelial-mesenchymal transition. Renal failure 14 38345033
2022 COL10A1 allows stratification of invasiveness of colon cancer and associates to extracellular matrix and immune cell enrichment in the tumor parenchyma. Frontiers in oncology 14 36267978
2021 Characterization of a novel COL10A1 variant associated with Schmid-type metaphyseal chondrodysplasia and a literature review. Molecular genetics & genomic medicine 14 33764685
2024 METTL16 Promotes Stability of SYNPO2L mRNA and leading to Cancer Cell Lung Metastasis by Secretion of COL10A1 and attract the Cancer-Associated Fibroblasts. International journal of biological sciences 12 39247832
2024 Oncogenic mechanisms of COL10A1 in cancer and clinical challenges (Review). Oncology reports 12 39392043
2021 Expression Profiling and Functional Analysis of Candidate Col10a1 Regulators Identified by the TRAP Program. Frontiers in genetics 12 34276786
2019 Lineage tracing of col10a1 cells identifies distinct progenitor populations for osteoblasts and joint cells in the regenerating fin of medaka (Oryzias latipes). Developmental biology 12 31325454
2019 Hypertrophic chondrocyte-specific Col10a1 controlling elements in Cre recombinase transgenic studies. American journal of translational research 12 31737217
2025 COL10A1+ fibroblasts promote colorectal cancer metastasis and M2 macrophage polarization with pan-cancer relevance. Journal of experimental & clinical cancer research : CR 10 40826474
2022 VSNL1 Promotes Cell Proliferation, Migration, and Invasion in Colorectal Cancer by Binding with COL10A1. Annals of clinical and laboratory science 10 35181619
2011 Association and expression study of MMP3, TGFβ1 and COL10A1 as candidate genes for leg weakness-related traits in pigs. Molecular biology reports 10 21739142
1996 Dideoxyfingerprinting (ddF) analysis of the type X collagen gene (COL10A1) and identification of a novel mutation (S671P) in a kindred with Schmid metaphyseal chondrodysplasia. Biochemical and molecular medicine 10 8986632
2019 RAD51B (rs8017304 and rs2588809), TRIB1 (rs6987702, rs4351379, and rs4351376), COL8A1 (rs13095226), and COL10A1 (rs1064583) Gene Variants with Predisposition to Age-Related Macular Degeneration. Disease markers 9 31191752
2010 Early-onset metaphyseal chondrodysplasia type Schmid associated with a COL10A1 frame-shift mutation and impaired trimerization of wild-type α1(X) protein chains. Journal of orthopaedic research : official publication of the Orthopaedic Research Society 9 20872587
2024 COL10A1 expression distinguishes a subset of cancer-associated fibroblasts present in the stroma of high-risk basal cell carcinoma. The British journal of dermatology 8 38916477
2022 High COL10A1 expression potentially contributes to poor outcomes in gastric cancer with the help of LEF1 and Wnt2. Journal of clinical laboratory analysis 8 35929139
2014 Case of mild Schmid-type metaphyseal chondrodysplasia with novel sequence variation involving an unusual mutational site of the COL10A1 gene. European journal of medical genetics 8 25542771
2023 COL10A1 promotes tumorigenesis by modulating CD276 in pancreatic adenocarcinoma. BMC gastroenterology 7 37974070
2019 A novel sequence variant in COL10A1 causing spondylometaphyseal dysplasia accompanied with coxa valga: A case report. Medicine 7 31348255
2019 Identification of two novel COL10A1 heterozygous mutations in two Chinese pedigrees with Schmid-type metaphyseal chondrodysplasia. BMC medical genetics 7 31856751
2018 Schmid Type Metaphyseal Chondrodysplasia with a Novel COL10A1 Mutation. Indian journal of pediatrics 7 30209734
2019 A novel missense COL10A1 mutation: c.2020G>A; p. Gly674Arg linked with the bowed legs stature in the Schmid metaphyseal chondrodysplasia-affected Chinese lineage. Bone reports 6 31921940
2006 Deletions in the COL10A1 gene are not associated with skeletal changes in dogs. Mammalian genome : official journal of the International Mammalian Genome Society 6 16845471
2023 Experimental validation and pan-cancer analysis identified COL10A1 as a novel oncogene and potential therapeutic target in prostate cancer. Aging 5 38147021
2021 COL10A1 is a novel factor in the development of choroidal neovascularization. Microvascular research 5 34520774
2019 A Venezuelan Case of Schmid-Type Metaphyseal Chondrodysplasia with a Novel Mutation in COL10A1. Molecular syndromology 5 31191206
2017 A missense point mutation in COL10A1 identified with whole-genome deep sequencing in a 7-generation Pakistan dwarf family. Heredity 5 29234170
2013 Downregulation of carbonic anhydrase IX promotes Col10a1 expression in chondrocytes. PloS one 5 23441228
2025 The p.W651fsX666 mutation on COL10A1 results in impaired trimerization of normal collagen X to induce Schmid type Metaphyseal chondrodysplasia. Human molecular genetics 3 40398448
2022 Natural history and genetic spectrum of the Turkish metaphyseal dysplasia cohort, including rare types caused by biallelic COL10A1, COL2A1, and LBR variants. Bone 3 36400164
2021 A detailed understanding of the COL10A1 and SOX9 genes interaction based on potentially damaging mutations in gastric cancer using computational techniques. Journal of biomolecular structure & dynamics 3 34380365
2015 A novel COL10A1 mutation in a Chinese pedigree with Schmid type metaphyseal chondrodysplasia. Clinical laboratory 3 25974987
2025 The regulatory effect of CoL10A1 to the intracranial vascular invasion and cell proliferation in breast cancer via EMT pathway. Scientific reports 2 40169690
2025 Resident CD24 +LCN2 + LPCs aggravate fibrosis and inflammatory progression via the recruitment of TPPP3 +COL10A1 + macrophages in NASH. Acta biochimica et biophysica Sinica 2 40380802
2024 COL10A1 Facilitates Prostate Cancer Progression by Interacting With INHBA to Activate the PI3K/AKT Pathway. Journal of cellular and molecular medicine 2 39656597
2021 Identification of a novel COL10A1: c.1952 G>T variant in a family with Schmid metaphyseal chondrodysplasia and development of a noninvasive prenatal testing method. Molecular genetics & genomic medicine 2 34423584
2013 Increased Col10a1 expression is not causative for the phenotype of Phex-deficient Hyp mice. Biochemical and biophysical research communications 2 24269824
2003 Chromosome location, genomic organization of the porcine COL10A1 gene and model structure of the NC1 domain. Cytogenetic and genome research 1 14970698
2026 COL10A1 transcriptional regulation of ANXA5-mediated ferroptosis is involved in malignant progression of head and neck squamous cell carcinoma. Translational cancer research 0 41815119
2026 A Conserved Fibroblast-Myeloid Gene Signature in Digestive Cancers: Multi-Omics Integration Identifies DCN, COL10A1, CTHRC1, and TREM2 as Candidate Microenvironmental Markers. International journal of molecular sciences 0 41977392
2026 COL10A1 beyond skeletal development: a hypertrophic chondrocyte-specific collagen emerging as a potential biomarker and tumor microenvironment regulator in solid cancers. American journal of cancer research 0 42163866
2025 Cloning and Expression of Col10a1 Gene and Its Response to Wnt/TGF-β Signaling Inhibitors in the Chinese Three-Keeled Pond Turtle (Mauremys reevesii). Animals : an open access journal from MDPI 0 41302023
2025 COL10A1 Overexpression Promotes Gastric Cancer Aggressiveness Through EMT and Major Oncogenic Pathways. International journal of molecular sciences 0 41303526
2024 Ddx5 participates in regulation of Col10a1 expression and chondrocyte hypertrophic differentiation in vitro. American journal of translational research 0 38715834
2024 Exudative Age-Related Macular Degeneration: Association between Treatment Efficacy and Single-Nucleotide Variants in RAD51B, TRIB1, COL8A1, COL10A1, IL-9, IL-10, and VEGFA Genes. International journal of molecular sciences 0 38999967

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