Affinage

COL10A1

Collagen alpha-1(X) chain · UniProt Q03692

Length
680 aa
Mass
66.2 kDa
Annotated
2026-04-28
82 papers in source corpus 29 papers cited in narrative 29 extracted findings

Mechanistic narrative

Synthesis pass · prose summary of the discoveries below

COL10A1 encodes the α1 chain of type X collagen, a homotrimeric short-chain collagen whose expression is restricted to hypertrophic chondrocytes during endochondral ossification, where it serves as a hallmark marker of chondrocyte hypertrophy (PMID:8477738). The C-terminal NC1 domain mediates chain trimerization; disease-causing missense mutations in this domain abolish trimer assembly, while nonsense/frameshift mutations can act through both nonsense-mediated mRNA decay (haploinsufficiency) and dominant-negative disruption of wild-type chain trimerization, with retained misfolded protein triggering ER stress and the unfolded protein response — collectively causing Schmid-type metaphyseal chondrodysplasia (MCDS) (PMID:15024737, PMID:15880705, PMID:17403716, PMID:30010889). Transcription of COL10A1 in hypertrophic chondrocytes is driven by a 150-bp distal cis-enhancer requiring direct Runx2 binding together with cooperating factors DLX5 and DDX5, while GADD45β/p38/C/EBPβ signaling activates the proximal promoter and SOX9 provides additional transcriptional input; epigenetic silencing occurs via promoter CpG methylation, and miR-218, miR-26b-5p, and miR-101 post-transcriptionally repress COL10A1 (PMID:21887706, PMID:37492739, PMID:38715834, PMID:20048163, PMID:18759285, PMID:33303006). In cancer contexts, secreted collagen X signals through DDR2 to activate FAK and MEK/ERK pathways, promoting epithelial–mesenchymal transition, proliferation, and metastasis across multiple carcinoma types (PMID:33324550, PMID:36530986, PMID:30154451).

Mechanistic history

Synthesis pass · year-by-year structured walk · 16 steps
  1. 1991 High

    Establishing the genomic identity and chromosomal location of COL10A1 was a prerequisite for subsequent mutation and regulatory studies.

    Evidence PCR cloning, in situ hybridization, and somatic cell hybrid analysis mapped COL10A1 to human chromosome 6q21-q22

    PMID:2037056

    Open questions at the time
    • Exon-intron structure of the human gene was not determined in this study
    • No functional data on protein product
  2. 1993 High

    Defining the gene structure and proving hypertrophic chondrocyte-restricted expression established COL10A1 as the definitive marker of chondrocyte hypertrophy during endochondral ossification.

    Evidence RNase protection, primer extension, RACE-PCR, and in situ hybridization in mouse embryos showed three-exon gene structure and expression restricted to hypertrophic cartilage from E13.5

    PMID:8477738

    Open questions at the time
    • Cis-regulatory elements controlling tissue specificity were not identified
    • No protein-level functional characterization
  3. 2004 High

    Demonstrating that MCDS-associated NC1 domain mutations abolish trimerization identified the molecular mechanism underlying disease pathogenesis.

    Evidence In vitro coupled transcription/translation and SDS-PAGE showed that Y582D, Y598D, and Q653P mutant α1(X) chains fail to form SDS-stable trimers

    PMID:15024737

    Open questions at the time
    • Whether disrupted trimerization causes ER retention and cellular stress was not yet tested
    • In vivo phenotypic consequences of individual mutations were not modeled
  4. 2005 High

    Establishing that nonsense mutations undergo NMD while missense mutations disrupt trimerization revealed two distinct pathogenic mechanisms — haploinsufficiency and dominant-negative — converging on MCDS.

    Evidence In vitro assembly assays and patient cartilage mRNA analysis showed NMD of nonsense mutant mRNA versus trimerization failure of missense mutant protein

    PMID:15880705

    Open questions at the time
    • Whether a single mutation could engage both mechanisms simultaneously was unknown
    • In vivo modeling of NMD versus dominant-negative effects was lacking
  5. 2007 High

    Proving that truncated mutant chains are retained in the ER and trigger UPR established ER stress as a central cellular pathogenic event in MCDS, beyond simple loss of extracellular collagen X.

    Evidence Transgenic FCdel mice expressing a frameshift COL10A1 mutant showed ER retention, UPR activation, and dosage-dependent growth plate disruption

    PMID:17403716

    Open questions at the time
    • Whether pharmacological modulation of ER stress could rescue the phenotype was untested
    • Relative contributions of ER stress versus extracellular matrix deficiency to MCDS remained unclear
  6. 2008 Medium

    Identifying CpG methylation-based silencing of COL10A1 in non-hypertrophic chondrocytes revealed an epigenetic layer of tissue-specific gene regulation.

    Evidence Bisulfite sequencing and COBRA showed specific CpG sites methylated in articular chondrocytes (no COL10A1 expression) and demethylated during MSC chondrogenesis (COL10A1 on)

    PMID:18759285

    Open questions at the time
    • Whether methylation changes are causative or correlative was not functionally tested with demethylating agents at specific sites
    • Identity of methyltransferases/demethylases involved was unknown
  7. 2010 High

    Two advances defined transcriptional control: Runx2 was shown to be necessary but not sufficient at the distal enhancer, and GADD45β/p38/C/EBPβ signaling was identified as an independent activating pathway at the proximal promoter, establishing a multi-input transcriptional logic for COL10A1.

    Evidence Transgenic mice with mutated Runx2 sites in the 150-bp enhancer lost reporter expression; dominant-negative p38 blocked GADD45β/C/EBPβ-mediated transactivation in reporter and ChIP assays

    PMID:20048163 PMID:21887706

    Open questions at the time
    • Cooperating factors at the 150-bp enhancer besides Runx2 were not yet identified
    • How the proximal promoter and distal enhancer signals are integrated was unclear
  8. 2014 Medium

    Identifying a broader set of transcription factors (AP1, MEF2, NFAT, Runx1, TBX5, Cox-2) at the 150-bp enhancer suggested a multi-protein regulatory complex centered on Runx2.

    Evidence Yeast one-hybrid screen, mass spectrometry, EMSA, and ChIP confirmed Cox-2 direct binding to the enhancer

    PMID:25321476

    Open questions at the time
    • Functional requirement of each factor was not individually tested in vivo
    • Stoichiometry and assembly order of the enhancer complex were unknown
  9. 2018 High

    Pharmacological rescue of MCDS by carbamazepine-stimulated proteolysis of ER-retained mutant collagen X demonstrated that ER stress is a druggable pathogenic mechanism, validating the UPR model.

    Evidence Col10a1 p.Y632X knock-in mice treated with carbamazepine showed reduced ER stress markers, restored growth plate architecture, and increased bone growth

    PMID:30010889

    Open questions at the time
    • Long-term safety and efficacy in patients not established
    • Whether carbamazepine acts specifically on collagen X versus general ER proteostasis was unclear
  10. 2018 High

    Demonstrating that SOX9 directly activates COL10A1 transcription and that COL10A1 promotes EMT via SOX9-dependent mechanisms in gastric cancer revealed a previously unrecognized extracellular signaling role for collagen X beyond the growth plate.

    Evidence EMSA, ChIP, and promoter reporter assays in gastric cancer cells; SOX9 knockdown abolished COL10A1-driven EMT; nude mouse metastasis assays

    PMID:30154451

    Open questions at the time
    • Receptor mediating COL10A1 signaling in gastric cancer was not identified in this study
    • Relevance to in vivo human cancer progression was correlative
  11. 2020 Medium

    Identification of DDR2 as the receptor for COL10A1 signaling through FAK established a molecular mechanism for collagen X-driven cancer cell proliferation and invasion.

    Evidence Co-immunoprecipitation of COL10A1 and DDR2 in lung adenocarcinoma cells; COL10A1 manipulation modulated DDR2 and FAK phosphorylation

    PMID:33324550

    Open questions at the time
    • Direct binding domain mapping between COL10A1 and DDR2 was not performed
    • Whether DDR2 mediates COL10A1 signaling in non-cancer hypertrophic chondrocytes was untested
  12. 2021 Medium

    Identification of miR-218 and TBX5 as negative regulators of COL10A1 demonstrated that hypertrophic differentiation is controlled by a balance of activators and repressors converging on COL10A1.

    Evidence miR-218 reporter assay and pulldown confirmed direct targeting of COL10A1; TBX5 overexpression in transgenic mice decreased Col10a1 and delayed ossification

    PMID:33303006 PMID:34276786

    Open questions at the time
    • Physiological contexts in which TBX5 and miR-218 are activated to suppress hypertrophy were not defined
    • Interaction between TBX5 repression and enhancer-bound activators was not resolved
  13. 2022 Medium

    Extension of DDR2-mediated signaling to MEK/ERK in pancreatic cancer, and discovery of m6A-mediated COL10A1 mRNA stabilization in cancer-associated fibroblasts, broadened the oncogenic mechanisms of COL10A1 beyond cell-autonomous DDR2/FAK signaling.

    Evidence MEK/ERK pathway analysis upon COL10A1 manipulation in pancreatic cancer cells; MeRIP-seq identified METTL3-dependent m6A on COL10A1 mRNA in CAFs promoting mRNA stability

    PMID:36246404 PMID:36530986

    Open questions at the time
    • Specific m6A sites on COL10A1 mRNA were not individually validated
    • Whether DDR2-dependent signaling is the sole effector pathway in all cancer types was unclear
  14. 2023 Medium

    Identification of DLX5 as a direct activator at the Col10a1 enhancer began to resolve which cooperating factors partner with Runx2 to achieve hypertrophic specificity.

    Evidence ChIP and dual-luciferase reporter assays showed DLX5 binding to the 150-bp enhancer; DLX5 knockdown reduced Col10a1 expression

    PMID:37492739

    Open questions at the time
    • Whether DLX5 and Runx2 physically interact at the enhancer was not demonstrated
    • Sufficiency of DLX5 plus Runx2 for hypertrophic specificity was not tested in vivo
  15. 2024 Medium

    DDX5 was identified as another direct transcriptional activator at the Col10a1 enhancer, further populating the enhancer-bound complex model and linking RNA helicase activity to COL10A1 regulation.

    Evidence ChIP and dual-luciferase reporter assays in ATDC5 cells; Ddx5 knockdown reduced COL10A1 expression and impaired chondrocyte maturation markers

    PMID:38715834

    Open questions at the time
    • Whether DDX5 acts via its helicase activity or as a transcriptional coactivator was not distinguished
    • Combinatorial requirement of DDX5, DLX5, and Runx2 was not tested
  16. 2025 Medium

    Demonstration that a single frameshift mutation can simultaneously undergo NMD and exert dominant-negative effects on trimerization unified the previously dichotomous haploinsufficiency versus dominant-negative models of MCDS pathogenesis.

    Evidence In vitro trimerization assay and mRNA stability analysis of COL10A1 p.W651fsX666 from an MCDS family

    PMID:40398448

    Open questions at the time
    • In vivo confirmation of dual mechanism in an animal model was not provided
    • Relative contribution of each mechanism to disease severity is unknown

Open questions

Synthesis pass · forward-looking unresolved questions
  • The full combinatorial logic of the 150-bp enhancer complex (how Runx2, DLX5, DDX5, and other factors are assembled and coordinated), the structural basis of COL10A1-DDR2 interaction, and whether collagen X has signaling functions in normal physiology beyond the growth plate remain unresolved.
  • No structural model of the enhancer-bound transcription factor complex exists
  • Crystal structure of COL10A1 interaction with DDR2 has not been solved
  • Whether collagen X has physiological signaling roles outside cartilage and cancer is untested

Mechanism profile

Synthesis pass · controlled-vocabulary classification · explore literature graph →
Molecular activity
GO:0005198 structural molecule activity 4 GO:0048018 receptor ligand activity 3
Localization
GO:0005576 extracellular region 4 GO:0005783 endoplasmic reticulum 2 GO:0031012 extracellular matrix 1
Pathway
R-HSA-1474244 Extracellular matrix organization 4 R-HSA-1643685 Disease 4 R-HSA-1266738 Developmental Biology 3 R-HSA-162582 Signal Transduction 3
Partners
CEBPBDDR2DDX5DLX5RUNX2SOX9TBX5
Complex memberships
Type X collagen homotrimer

Evidence

Reading pass · 29 per-paper findings extracted from the source corpus
Year Finding Method Journal Conf PMIDs
2011 Runx2 directly interacts with two tandem-repeat Runx2 binding sites (TGTGGG-TGTGGC) within the 150-bp Col10a1 distal cis-enhancer, and this interaction is required but not sufficient for hypertrophic chondrocyte-specific Col10a1 expression in vivo; mutating these Runx2 sites abolishes cell-specific reporter expression in transgenic mice. EMSA, ChIP, transfection reporter assays, transgenic mice with Runx2-site mutations Journal of bone and mineral research High 21887706
2014 Multiple transcription factors interact with the 150-bp Col10a1 cis-enhancer, including AP1, MEF2, NFAT, Runx1, TBX5, Cox-1, and Cox-2; Cox-2 was confirmed to directly interact with this enhancer by EMSA and ChIP, supporting a Cox-2-containing, Runx2-centered Col10a1 regulatory complex in hypertrophic chondrocytes. In silico sequence analysis, yeast one-hybrid, mass spectrometry, EMSA, ChIP Cell death & disease Medium 25321476
2010 GADD45β enhances Col10a1 transcription via the MTK1/MKK3/6/p38 signaling axis, acting through the transactivation domain TAD4 of C/EBPβ bound to the proximal Col10a1 promoter; dominant-negative p38 (but not JNK) disrupts GADD45β/C/EBPβ-mediated Col10a1 transactivation. Promoter reporter assay, dominant-negative kinase constructs, ChIP, siRNA knockdown, kinase pathway analysis The Journal of biological chemistry High 20048163
2008 COL10A1 expression during MSC chondrogenesis correlates with demethylation of two specific CpG sites in the COL10A1 promoter; in human articular chondrocytes (which do not express COL10A1), these sites are consistently methylated, indicating methylation-based epigenetic silencing. Combined Bisulfite Restriction Analysis (COBRA), bisulfite sequencing, qPCR for expression Arthritis and rheumatism Medium 18759285
2007 COL10A1 nonsense and frameshift mutations produce misfolded truncated α1(X) chains that are retained in the ER of hypertrophic chondrocytes, activate the unfolded protein response (UPR), and exert a dominant-negative effect by interfering with trimerization of wild-type α1(X) chains, disrupting chondrocyte differentiation in the growth plate. In vitro translation/assembly assay, transgenic mouse model (FCdel), ER retention immunostaining, UPR marker analysis Human molecular genetics High 17403716
2004 MCDS-associated NC1 domain missense mutations (Y582D, Y598D, Q653P) in COL10A1 disrupt collagen X trimerization in vitro; wild-type collagen X assembles into SDS-stable trimers, whereas these mutant chains fail to trimerize, suggesting impaired NC1-mediated trimer assembly as the common pathogenic mechanism. In vitro coupled transcription/translation and SDS-PAGE trimer assembly assay Human mutation High 15024737
2005 COL10A1 missense mutations disrupt collagen X trimerization and secretion (examined by in vitro expression and cell transfection), while nonsense mutations lead to complete removal of mutant mRNA by nonsense-mediated mRNA decay (NMD), resulting in functional haploinsufficiency as the common mechanism for MCDS. In vitro expression and assembly assays, cell transfection, analysis of mutant mRNA stability in patient cartilage tissue Human mutation High 15880705
2010 A COL10A1 frameshift mutant protein (p.G579fsX611) fails to trimerize and exerts a dominant-negative effect on wild-type α1(X) chain trimerization: trimerization of wild-type chains was significantly reduced (from 57% to 33%) when co-translated with mutant chains in a 1:1 ratio. In vitro coupled transcription/translation trimerization assembly assay Journal of orthopaedic research High 20872587
2018 In a mouse model of MCDS (Col10a1 p.Y632X), the mutant protein is translated and retained intracellularly triggering ER stress and UPR; treatment with carbamazepine (which stimulates intracellular proteolysis) reduced ER stress, restored growth plate architecture, increased bone growth, and corrected hip distortion. Gene-targeted knock-in mouse model, ER stress/UPR marker analysis, carbamazepine pharmacological rescue Human molecular genetics High 30010889
2018 SOX9 directly binds to the COL10A1 gene promoter and activates its transcription; TGF-β1 treatment increases Smad2 phosphorylation, upregulates SOX9, which in turn increases COL10A1 expression; COL10A1 promotes EMT and metastasis in gastric cancer cells, and SOX9 is required for COL10A1-mediated EMT and invasiveness. EMSA, ChIP assay, promoter reporter assay, siRNA knockdown, nude mouse metastasis model Cell death & disease High 30154451
2020 COL10A1 interacts with DDR2 (discoidin domain receptor 2) and activates the downstream FAK signaling pathway to regulate lung adenocarcinoma cell proliferation and invasion; knockdown or overexpression of COL10A1 modulates DDR2 and FAK activity. Co-immunoprecipitation, gain- and loss-of-function experiments, FAK signaling analysis, in vitro and in vivo functional assays Frontiers in oncology Medium 33324550
2022 COL10A1 activates the MEK/ERK signaling pathway by binding to DDR2 in pancreatic cancer cells, leading to EMT and accelerated cancer progression; COL10A1 overexpression enhanced proliferation and migration, and DDR2 expression was regulated by COL10A1. Overexpression/knockdown functional assays, MEK/ERK signaling analysis, EMT marker assessment Frontiers in oncology Medium 36530986
2022 METTL3-mediated m6A methylation of COL10A1 mRNA in cancer-associated fibroblasts (CAFs) stabilizes COL10A1 mRNA and increases its expression; COL10A1 secreted by CAFs promotes lung squamous cell carcinoma (LUSC) cell proliferation and suppresses apoptosis-induced oxidative stress. MeRIP (m6A sequencing), METTL3 knockdown, COL10A1 knockdown, in vitro functional assays, in vivo xenograft Oxidative medicine and cellular longevity Medium 36246404
2021 COL10A1 directly interacts with P4HB (Prolyl 4-hydroxylase beta polypeptide) in breast cancer cells; knockdown of P4HB reverses the proliferation- and invasion-promoting effects of COL10A1 overexpression, placing COL10A1 upstream of P4HB in breast cancer progression. Co-immunoprecipitation, siRNA knockdown, CCK-8, wound healing, transwell assays Medical science monitor Low 33637669
2024 miR-26b-5p from M2 macrophage-derived exosomes directly targets COL10A1 (confirmed by target-site mutation and dual-luciferase reporter assay), inhibiting chondrocyte hypertrophy induced by M1 macrophage-conditioned medium. Dual-luciferase reporter assay with target-site mutation, miRNA mimic transfection, in vitro chondrocyte hypertrophy assay, in vivo OA mouse model Journal of nanobiotechnology Medium 38374072
2020 miR-26a-5p directly targets COL10A1 (validated by dual-luciferase reporter assay), and rescue experiments show that downregulation of COL10A1 reverses the inhibitory effect of miR-26a-5p overexpression on gastric cancer cell proliferation, migration, and invasion. Dual-luciferase reporter assay, siRNA knockdown, CCK-8, colony formation, transwell assays European review for medical and pharmacological sciences Medium 32096148
2023 DLX5 promotes Col10a1 expression in hypertrophic chondrocytes by directly interacting with the Col10a1 cis-enhancer, as demonstrated by dual-luciferase reporter and ChIP assays; DLX5 may cooperate with RUNX2 via adjacent binding sites within the enhancer. qRT-PCR, Western blot, dual-luciferase reporter assay, ChIP, forced expression and knockdown in chondrogenic cell models, murine OA model Genes & diseases Medium 37492739
2021 miR-218 directly targets COL10A1, MEF2C, and RUNX2 (confirmed by miR reporter assay in HEK293T and miR pulldown in human MSC); gain of miR-218 in human MSC attenuates hypertrophic markers including COL10A1, though WNT/β-catenin activation counteracts anti-hypertrophic effects. miRNA reporter assay, miR pulldown, western blot, functional differentiation assays in MSC and SaOS-2 cells Stem cell research & therapy Medium 33303006
2013 Downregulation of carbonic anhydrase IX (Car9) in mouse primary chondrocytes induces Col10a1 expression in a HIF-2α-independent manner; this induction is modulated by the cAMP/PKA pathway, as it is augmented by a PKA inhibitor and suppressed by a phosphodiesterase inhibitor or cAMP analog. Car9 siRNA knockdown, Car9 forced expression, Epas1 siRNA (HIF-2α), pharmacological cAMP/PKA pathway manipulation, RT-PCR PloS one Medium 23441228
2021 TBX5 acts as a negative regulator of Col10a1: overexpression of Tbx5 decreases Col10a1 expression while knockdown increases it; in ColX-Tbx5 transgenic mice, Tbx5 overexpression decreased Col10a1 expression in limb tissue and caused mildly delayed ossification. qRT-PCR, Western blot, stable overexpression cell line, transgenic mouse generation, alkaline phosphatase staining Frontiers in genetics Medium 34276786
2024 DDX5 (DEAD-box helicase 5) acts as a positive transcriptional regulator of Col10a1 by directly interacting with the 150-bp Col10a1 cis-enhancer, as confirmed by ChIP and dual-luciferase reporter assay; Ddx5 knockdown reduces COL10A1 expression and impairs chondrocyte maturation (weaker alcian blue and ALP staining), and may cooperate with RUNX2. qRT-PCR, Western blot, dual-luciferase reporter assay, ChIP, stable Ddx5 knockdown ATDC5 cells, alcian blue/ALP/alizarin red staining American journal of translational research Medium 38715834
2025 A COL10A1 p.W651fsX666 frameshift mutation produces mutant mRNA that undergoes NMD, yet the mutant protein also disrupts trimerization of normal collagen X in vitro (dominant-negative effect), demonstrating that both haploinsufficiency and dominant-negative mechanisms can co-exist for a single nonsense/frameshift mutation. In vitro trimerization analysis, mRNA stability assay, Sanger sequencing, family segregation analysis Human molecular genetics Medium 40398448
2024 KLF4 induces miR-101 transcription, and miR-101 in turn downregulates COL10A1 expression (dual-luciferase reporter validation); COL10A1 silencing inhibits EMT and renal fibrosis in ischemia-reperfusion injury models, placing COL10A1 downstream of KLF4/miR-101 axis. Dual-luciferase reporter assay, FISH, KLF4 overexpression, COL10A1 siRNA, ischemia-reperfusion mouse model, immunofluorescence Renal failure Medium 38345033
2025 COL10A1 directly interacts with INHBA and facilitates PI3K/AKT phosphorylation in prostate cancer cells; co-immunoprecipitation confirmed the COL10A1-INHBA interaction, and overexpression of COL10A1 promotes cancer cell proliferation, migration, and invasion through this axis. Co-immunoprecipitation, CCK-8, colony formation, flow cytometry, transwell, wound-healing assays, rescue experiments Journal of cellular and molecular medicine Low 39656597
2023 COL10A1 knockdown in pancreatic adenocarcinoma cells decreases CD276 expression, and overexpression of CD276 reverses COL10A1 knockdown-induced repression of proliferation and migration, identifying CD276 as a downstream effector of COL10A1 in pancreatic cancer. siRNA knockdown, CCK-8, wound healing, transwell assays, western blot for CD276 BMC gastroenterology Low 37974070
2021 COL10A1 knockdown in HRMECs suppresses proliferation and tube formation under hypoxic conditions, and downregulates SNAIL1 and ANGPT2; intravitreal injection of anti-collagen X monoclonal antibody significantly reduces CNV leakage and lesion area in a mouse laser-induced CNV model. siRNA knockdown, proliferation and tube formation assays, anti-collagen X antibody injection in vivo, fundus fluorescein angiography, immunofluorescence Microvascular research Medium 34520774
2025 COL10A1 promotes colorectal cancer cell EMT and induces M2 macrophage polarization through the COL10A1/CD18/JAK1/STAT3 signaling axis; M2 macrophages in turn enhance COL10A1 expression in fibroblasts via TGF-β/RUNX2 pathway, forming a pro-tumorigenic feedback loop. Multi-omics integration (single-cell, bulk, spatial transcriptomics, proteomics), in vivo models, molecular pathway assays, drug screening Journal of experimental & clinical cancer research Medium 40826474
1993 The mouse Col10a1 gene has three exons and two introns spanning 7.0 kb, with alternative promoter usage and multiple transcription start sites; mRNA (~3.0 kb) is first expressed at E13.5, and in situ hybridization confirms restriction of Col10a1 expression to hypertrophic chondrocytes in growth cartilage. RNase protection assays, primer extension, RACE-PCR, in situ hybridization, RT-PCR, SDS-PAGE European journal of biochemistry High 8477738
1991 The human COL10A1 gene (encoding α1(X) collagen) was cloned and mapped to the q21-q22 region of chromosome 6 by in situ hybridization and somatic cell hybrid analysis. PCR with consensus primers, in situ hybridization of metaphase chromosomes, Southern analysis of human-hamster somatic cell hybrids FEBS letters High 2037056

Source papers

Stage 0 corpus · 82 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 156 30154451
2014 Identification and characterization of the novel Col10a1 regulatory mechanism during chondrocyte hypertrophic differentiation. Cell death & disease 94 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 68 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 64 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
2005 Mutations of COL10A1 in Schmid metaphyseal chondrodysplasia. Human mutation 59 15880705
1993 Intron-exon structure, alternative use of promoter and expression of the mouse collagen X gene, Col10a-1. European journal of biochemistry 59 8477738
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 54 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 47 23769979
2020 Upregulated Collagen COL10A1 Remodels the Extracellular Matrix and Promotes Malignant Progression in Lung Adenocarcinoma. Frontiers in oncology 46 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
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
2024 LncRNA HAGLROS promotes breast cancer evolution through miR-135b-3p/COL10A1 axis and exosome-mediated macrophage M2 polarization. Cell death & disease 39 39198393
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 33 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 27 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
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
2013 Establishment of a bone-specific col10a1:GFP transgenic zebrafish. Molecules and cells 24 23852131
2023 DLX5 promotes Col10a1 expression and chondrocyte hypertrophy and is involved in osteoarthritis progression. Genes & diseases 19 37492739
2020 MiR-218 affects hypertrophic differentiation of human mesenchymal stromal cells during chondrogenesis via targeting RUNX2, MEF2C, and COL10A1. Stem cell research & therapy 19 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
2022 COL10A1-DDR2 axis promotes the progression of pancreatic cancer by regulating MEK/ERK signal transduction. Frontiers in oncology 16 36530986
2014 Col10a1-Runx2 transgenic mice with delayed chondrocyte maturation are less susceptible to developing osteoarthritis. American journal of translational research 16 25628784
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
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 13 33764685
2024 Krüppel-like factor 4 modulates the miR-101/COL10A1 axis to inhibit renal fibrosis after AKI by regulating epithelial-mesenchymal transition. Renal failure 12 38345033
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
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 10 39247832
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
2022 VSNL1 Promotes Cell Proliferation, Migration, and Invasion in Colorectal Cancer by Binding with COL10A1. Annals of clinical and laboratory science 9 35181619
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
2025 COL10A1+ fibroblasts promote colorectal cancer metastasis and M2 macrophage polarization with pan-cancer relevance. Journal of experimental & clinical cancer research : CR 8 40826474
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
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 8 31191752
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
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 7 38916477
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
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