| Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2. | Whole exome sequencing identifies a novel variant in the COL12A1 gene in a family with Ullrich congenital muscular dystrophy 2.
Naghipoor K, Khosravi T, Oladnabi M. | 08/30/2023 |
| PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression. | PABPC1 promotes cell proliferation and metastasis in pancreatic adenocarcinoma by regulating COL12A1 expression.
Yao W, Yao Y, He W, Zhao C, Liu D, Wang G, Wang Z., Free PMC Article | 08/1/2023 |
| Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients. | Epigenetic dysregulation-mediated COL12A1 upregulation predicts worse outcome in intrahepatic cholangiocarcinoma patients.
Tang Z, Yang Y, Zhang Q, Liang T., Free PMC Article | 02/4/2023 |
| Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis. | Temporal profiling of the breast tumour microenvironment reveals collagen XII as a driver of metastasis.
Papanicolaou M, Parker AL, Yam M, Filipe EC, Wu SZ, Chitty JL, Wyllie K, Tran E, Mok E, Nadalini A, Skhinas JN, Lucas MC, Herrmann D, Nobis M, Pereira BA, Law AMK, Castillo L, Murphy KJ, Zaratzian A, Hastings JF, Croucher DR, Lim E, Oliver BG, Mora FV, Parker BL, Gallego-Ortega D, Swarbrick A, O'Toole S, Timpson P, Cox TR., Free PMC Article | 08/13/2022 |
| Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function. | Collagen XII mediated cellular and extracellular mechanisms regulate establishment of tendon structure and function.
Izu Y, Adams SM, Connizzo BK, Beason DP, Soslowsky LJ, Koch M, Birk DE., Free PMC Article | 10/30/2021 |
| Role of collagen XII in skin homeostasis and repair. | Role of collagen XII in skin homeostasis and repair.
Schönborn K, Willenborg S, Schulz JN, Imhof T, Eming SA, Quondamatteo F, Brinckmann J, Niehoff A, Paulsson M, Koch M, Eckes B, Krieg T. | 10/23/2021 |
| Bioinformatics analysis identified MMP14 and COL12A1 as immune-related biomarkers associated with pancreatic adenocarcinoma prognosis. | Bioinformatics analysis identified MMP14 and COL12A1 as immune-related biomarkers associated with pancreatic adenocarcinoma prognosis.
Li Y, Su Z, Wei B, Qin M, Liang Z. | 09/25/2021 |
| COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction. | COL12A1 Single Nucleotide Polymorphisms rs240736 and rs970547 Are Not Associated with Temporomandibular Joint Disc Displacement without Reduction.
Dalewski B, Kaczmarek K, Jakubowska A, Szczuchniak K, Pałka Ł, Sobolewska E., Free PMC Article | 09/4/2021 |
| Integrated bioinformatics analysis of expression and gene regulation network of COL12A1 in colorectal cancer. | Integrated bioinformatics analysis of expression and gene regulation network of COL12A1 in colorectal cancer.
Wu Y, Xu Y., Free PMC Article | 05/8/2021 |
| A novel mutation in the COL12A1 gene. | A novel mutation in the COL12A1 gene.
Araújo D, Antunes H. | 02/2/2021 |
| Correlations Between the Genetic Variations in the COL1A1, COL5A1, COL12A1, and beta-fibrinogen Genes and Anterior Cruciate Ligament Injury in Chinese Patients(a). | Correlations Between the Genetic Variations in the COL1A1, COL5A1, COL12A1, and β-fibrinogen Genes and Anterior Cruciate Ligament Injury in Chinese Patients(a).
Zhao D, Zhang Q, Lu Q, Hong C, Luo T, Duan Q, Shu S, Lv J, Zhao W., Free PMC Article | 10/24/2020 |
| Dominant collagen XII mutations cause a distal myopathy. | Dominant collagen XII mutations cause a distal myopathy.
Mohassel P, Liewluck T, Hu Y, Ezzo D, Ogata T, Saade D, Neuhaus S, Bolduc V, Zou Y, Donkervoort S, Medne L, Sumner CJ, Dyck PJB, Wierenga KJ, Tennekoon G, Finkel RS, Chen J, Winder TL, Staff NP, Foley AR, Koch M, Bönnemann CG., Free PMC Article | 09/12/2020 |
| Results identified four pathogenic heterozygous in-frame exon skipping defects in COL12A1 and, one heterozygous arginine-to-cysteine substitution of unclear significance (p.(Arg1863Cys)) in patients with a mixed myopathy/Ehlers-Danlos syndrome spectrum. Variant-specific intracellular accumulation of collagen XII chains, and extracellular decrease of decorin and tenascin-X were observed for the COL12A1 variants. | Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix.
Delbaere S, Dhooge T, Syx D, Petit F, Goemans N, Destrée A, Vanakker O, De Rycke R, Symoens S, Malfait F. | 06/13/2020 |
| The results highlighted the importance of COL12A1 in gastric cancer (GC) and suggested its potential role as a candidate for clinical outcome prediction and targeted therapy in patients with GC. | COL12A1, a novel potential prognostic factor and therapeutic target in gastric cancer.
Jiang X, Wu M, Xu X, Zhang L, Huang Y, Xu Z, He K, Wang H, Wang H, Teng L., Free PMC Article | 02/8/2020 |
| COL12A1 is identified as the critical gene on promoting gastric cancer (GC) migration. A reciprocal positive regulation is found between IDO1 and COL12A1 to promote tumor metastasis, mediated by IDO1 metabolite kynurenine and integrin beta1. | A positive feedback between IDO1 metabolite and COL12A1 via MAPK pathway to promote gastric cancer metastasis.
Xiang Z, Li J, Song S, Wang J, Cai W, Hu W, Ji J, Zhu Z, Zang L, Yan R, Yu Y., Free PMC Article | 01/18/2020 |
| Certain core genes, including COL12A1, glutathione Stransferase alpha3 (GSTA3), fibrinogen alpha chain (FGA) and fibrinogen gamma chain (FGG), were the first reported to be associated with Gastric Cancer. Survival analysis suggested that these four genes, COL12A1 (P=0.002), GSTA3 (P=3.4x106), FGA (P=0.00075) and FGG (P=1.4x105), were significant poor prognostic factors of gastric cancer. | Novel prognostic biomarkers of gastric cancer based on gene expression microarray: COL12A1, GSTA3, FGA and FGG.
Duan S, Gong B, Wang P, Huang H, Luo L, Liu F., Free PMC Article | 01/12/2019 |
| In conclusion, the novel main finding of this study was a significant interaction between the COL5A1 rs12722 T/C and COL12A1 rs970547 A/G variants and risk of anterior cruciate ligament injury. | Interactions between collagen gene variants and risk of anterior cruciate ligament rupture.
O'Connell K, Knight H, Ficek K, Leonska-Duniec A, Maciejewska-Karlowska A, Sawczuk M, Stepien-Slodkowska M, O'Cuinneagain D, van der Merwe W, Posthumus M, Cieszczyk P, Collins M. | 01/16/2016 |
| Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line. | Extracellular matrix proteins expression profiling in chemoresistant variants of the A2780 ovarian cancer cell line.
Januchowski R, Zawierucha P, Ruciński M, Nowicki M, Zabel M., Free PMC Article | 02/14/2015 |
| The study indicates that the spectrum of causative genes in extracellular matrix-related myopathies be extended to include COL12A1. | Mutations in the collagen XII gene define a new form of extracellular matrix-related myopathy.
Hicks D, Farsani GT, Laval S, Collins J, Sarkozy A, Martoni E, Shah A, Zou Y, Koch M, Bönnemann CG, Roberts M, Lochmüller H, Bushby K, Straub V. | 01/31/2015 |
| collagen alpha-1 (XII) chain was expressed at dramatically higher (~10-fold) levels in breast | Using a cell line breast cancer progression system to identify biomarker candidates.
Yen TY, Haste N, Timpe LC, Litsakos-Cheung C, Yen R, Macher BA., Free PMC Article | 09/20/2014 |
| results show that this gene interacts collagen x1 encoded genes to modulate the risk for AT | Association of type XI collagen genes with chronic Achilles tendinopathy in independent populations from South Africa and Australia.
Hay M, Patricios J, Collins R, Branfield A, Cook J, Handley CJ, September AV, Posthumus M, Collins M. | 12/28/2013 |
| COL3A1 rs1800255, COL6A1 rs35796750 and COL12A1 rs970547 were not significantly associated with sit-and-reach, straight leg raise or total shoulder rotation range of motion | No association between COL3A1, COL6A1 or COL12A1 gene variants and range of motion.
O'connell K, Posthumus M, Collins M. | 07/27/2013 |
| Type XII collagen is overexpressed in permanent human and mouse corneal scars and could represent a new target to treat corneal scarring. | NC1 long and NC3 short splice variants of type XII collagen are overexpressed during corneal scarring.
Massoudi D, Malecaze F, Soler V, Butterworth J, Erraud A, Fournié P, Koch M, Galiacy SD. | 01/12/2013 |
| In addition to binding collagen I, COMP binds to collagens XII and XIV via their C-terminal collagenous domains. | Collagen XII and XIV, new partners of cartilage oligomeric matrix protein in the skin extracellular matrix suprastructure.
Agarwal P, Zwolanek D, Keene DR, Schulz JN, Blumbach K, Heinegård D, Zaucke F, Paulsson M, Krieg T, Koch M, Eckes B., Free PMC Article | 09/15/2012 |
| COL12A1 is associated with anterior cruciate ligament ruptures among females | The association between the COL12A1 gene and anterior cruciate ligament ruptures.
Posthumus M, September AV, O'Cuinneagain D, van der Merwe W, Schwellnus MP, Collins M. | 12/10/2011 |