| COL6A3 Exosomes Promote Tumor Dissemination and Metastasis in Epithelial Ovarian Cancer. | COL6A3 Exosomes Promote Tumor Dissemination and Metastasis in Epithelial Ovarian Cancer.
Ho CM, Yen TL, Chang TH, Huang SH., Free PMC Article | 09/19/2024 |
| Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence. | Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence.
Savić R, Yang J, Koplev S, An MC, Patel PL, O'Brien RN, Dubose BN, Dodatko T, Rogatsky E, Sukhavasi K, Ermel R, Ruusalepp A, Houten SM, Kovacic JC, Stewart AF, Yohn CB, Schadt EE, Laberge RM, Björkegren JLM, Tu Z, Argmann C., Free PMC Article | 12/5/2023 |
| Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes. | Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S, Magri F, Salani S, Napoli L, Ripolone M, Ronchi D, Fortunato F, Ciscato P, Velardo D, D'Angelo MG, Gualandi F, Nigro V, Sciacco M, Corti S, Comi GP, Piga D., Free PMC Article | 08/9/2023 |
| Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies. | Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies.
Attri S, Lone M, Katiyar A, Sharma V, Kumar V, Verma C, Gahlawat SK., Free PMC Article | 04/14/2023 |
| Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies. | Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Villar-Quiles RN, Donkervoort S, de Becdelièvre A, Gartioux C, Jobic V, Foley AR, McCarty RM, Hu Y, Menassa R, Michel L, Gousse G, Lacour A, Petiot P, Streichenberger N, Choumert A, Declerck L, Urtizberea JA, Sole G, Furby A, Cérino M, Krahn M, Campana-Salort E, Ferreiro A, Eymard B, Bönnemann CG, Bharucha-Goebel D, Sumner CJ, Connolly AM, Richard P, Allamand V, Métay C, Stojkovic T. | 12/25/2021 |
| Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity. | Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.
Stavusis J, Micule I, Wright NT, Straub V, Topf A, Panadés-de Oliveira L, Domínguez-González C, Inashkina I, Kidere D, Chrestian N, Lace B. | 09/25/2021 |
| Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy. | Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy.
Choi E, Shin S, Lee S, Lee SJ, Park J. | 08/28/2021 |
| Identification of Key Prognostic Biomarker and Its Correlation with Immune Infiltrates in Pancreatic Ductal Adenocarcinoma. | Identification of Key Prognostic Biomarker and Its Correlation with Immune Infiltrates in Pancreatic Ductal Adenocarcinoma.
Luan H, Zhang C, Zhang T, He Y, Su Y, Zhou L., Free PMC Article | 07/10/2021 |
| Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease. | Study of the collagen type VI alpha 3 (COL6A3) gene in Parkinson's disease.
Jin CY, Zheng R, Lin ZH, Xue NJ, Chen Y, Gao T, Yan YQ, Fang Y, Yan YP, Yin XZ, Tian J, Pu JL, Zhang BR., Free PMC Article | 06/26/2021 |
| COL6A3 expression in adipose tissue cells is associated with levels of the homeobox transcription factor PRRX1. | COL6A3 expression in adipose tissue cells is associated with levels of the homeobox transcription factor PRRX1.
Dankel SN, Grytten E, Bjune JI, Nielsen HJ, Dietrich A, Blüher M, Sagen JV, Mellgren G., Free PMC Article | 04/24/2021 |
| Structure of a collagen VI alpha3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations. | Structure of a collagen VI α3 chain VWA domain array: adaptability and functional implications of myopathy causing mutations.
Solomon-Degefa H, Gebauer JM, Jeffries CM, Freiburg CD, Meckelburg P, Bird LE, Baumann U, Svergun DI, Owens RJ, Werner JM, Behrmann E, Paulsson M, Wagener R., Free PMC Article | 02/2/2021 |
| A Fragment of Collagen Type VI alpha-3 chain is Elevated in Serum from Patients with Gastrointestinal Disorders. | A Fragment of Collagen Type VI alpha-3 chain is Elevated in Serum from Patients with Gastrointestinal Disorders.
Holm Nielsen S, Mortensen JH, Willumsen N, Rasmussen DGK, Mogensen DJ, Di Sabatino A, Mazza G, Jørgensen LN, Giuffrida P, Pinzani M, Klinge L, Kjeldsen J, Leeming DJ, Karsdal MA, Genovese F., Free PMC Article | 12/12/2020 |
| COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature. | COL6A3 mutation associated early-onset isolated dystonia (DYT)-27: Report of a new case and review of published literature.
Panda PK, Sharawat IK. | 11/21/2020 |
| Human endotrophin as a driver of malignant tumor growth. | Human endotrophin as a driver of malignant tumor growth.
Bu D, Crewe C, Kusminski CM, Gordillo R, Ghaben AL, Kim M, Park J, Deng H, Xiong W, Liu XZ, Lønning PE, Halberg N, Rios A, Chang Y, Gonzalez A, Zhang N, An Z, Scherer PE., Free PMC Article | 09/26/2020 |
| Single cell sequencing revealed the underlying pathogenesis of the development of osteoarthritis. | Single cell sequencing revealed the underlying pathogenesis of the development of osteoarthritis.
Li C, Luo J, Xu X, Zhou Z, Ying S, Liao X, Wu K. | 08/29/2020 |
| overexpressed circCOL6A3 promoted cell proliferation, migration and apoptosis of gastric cancer through rescission of miR-3064-5p-induced inhibitory effect on COL6A3; study will furnish theoretical grounds for future clinical diagnosis and treatment of GC patients | A circular RNA derived from COL6A3 functions as a ceRNA in gastric cancer development.
Sun X, Zhang X, Zhai H, Zhang D, Ma S. | 06/27/2020 |
| study found that COL6A3 variants were associated with risk of esophageal cancer in the Chinese population | Variants in COL6A3 gene influence susceptibility to esophageal cancer in the Chinese population.
Li Y, Sun Y, Yang Q, Wu J, Xiong Z, Li S, Jin T. | 05/9/2020 |
| An association was determined between COL6A3 polymorphisms and lung cancer risk in a Chinese population. | COL6A3 polymorphisms were associated with lung cancer risk in a Chinese population.
Duan Y, Liu G, Sun Y, Wu J, Xiong Z, Jin T, Chen M., Free PMC Article | 01/18/2020 |
| two patients were diagnosed as spontaneous collagen type -related myopathy and carried different variants of COL6A3 gene | [Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].
Peng XY, Qu YJ, Song F, Sun XF, Ge XS, Jiao H. | 08/24/2019 |
| The most frequent mutation in a series of 16 Bethlem myopathy patients was the COL6A3 variant c.7447A>G, p.Lys2486Glu, with either an homozygous or compound heterozygous presentation. Five new mutations were found in COL6A1 gene and other two in COL6A3 gene, all of them with a dominant heritability pattern. | Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira L, Rodríguez-López C, Cantero Montenegro D, Marcos Toledano MDM, Fernández-Marmiesse A, Esteban Pérez J, Hernández Lain A, Domínguez-González C. | 06/29/2019 |
| Altered white matter structure especially in various parts of the cerebello-thalamo-cortical network in dystonia patients with COL6A3 mutations. | Microstructural white matter abnormalities in patients with COL6A3 mutations (DYT27 dystonia).
Jochim A, Li Y, Zech M, Lam D, Gross N, Koch K, Zimmer C, Winkelmann J, Haslinger B. | 04/6/2019 |
| COL6A3 could influence the viability and angiogenesis of bladder cancer cells. COL6A3 may have a certain relationship with the TGF-beta/Smad-induced EMT process. | Collagen Type VI Alpha 3 Chain Promotes Epithelial-Mesenchymal Transition in Bladder Cancer Cells via Transforming Growth Factor β (TGF-β)/Smad Pathway.
Huang Y, Li G, Wang K, Mu Z, Xie Q, Qu H, Lv H, Hu B., Free PMC Article | 11/10/2018 |
| The morphology and immunophenotype of all 6 cases was analogous to those with the canonical COL1A1-PDGFB fusion; none of the cases showed fibrosarcomatous transformation. This study illustrates that the COL6A3-PDGFD fusion product is rare in dermatofibrosarcoma protuberans, and associated with an apparent predilection for breast | Dermatofibrosarcoma protuberans with a novel COL6A3-PDGFD fusion gene and apparent predilection for breast.
Dickson BC, Hornick JL, Fletcher CDM, Demicco EG, Howarth DJ, Swanson D, Zhang L, Sung YS, Antonescu CR., Free PMC Article | 10/27/2018 |
| Study found COL6A3 expression to be downregulated and associated with poor prognosis in human colorectal cancer (CRC). In silico analysis of cell typespecific gene expression and COL6A3 knockout experiments indicated the clinical relevance of COL6A3 in the development of CRC. | Role of COL6A3 in colorectal cancer.
Liu W, Li L, Ye H, Tao H, He H., Free PMC Article | 09/22/2018 |
| COL6A mutation Congenital Muscular Dystrophy showed the muscle weakness and poor respiratory function. | COL6A and LAMA2 Mutation Congenital Muscular Dystrophy: A Clinical and Electrophysiological Study.
Verma S, Goyal P, Guglani L, Peinhardt C, Pelzek D, Barkhaus PE. | 08/11/2018 |