| Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure. | Exome sequencing in extreme altitude mountaineers identifies pathogenic variants in RTEL1 and COL6A1 previously associated with respiratory failure.
Maksiutenko EM, Merkureva V, Barbitoff YA, Tsay VV, Aseev MV, Glotov AS, Glotov OS., Free PMC Article | 05/7/2024 |
| Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy. | Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
Barington M, Dunø M, Birkedal U, Vissing J, Born AP, Krag T, Hansen TVO, Østergaard E. | 08/20/2023 |
| Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study. | Integrated Proteomics and Metabolomics Analyses of Serum in Chinese Patients with Severe and Active Graves' Orbitopathy: A Cross-sectional Study.
Shi TT, Liu HY, Zhu XR, Xin Z, Hua L, Xie RR, Sun R, Cao X, Yang JK. | 08/9/2023 |
| 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 |
| Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene. | Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.
Bardakov SN, Deev RV, Magomedova RM, Umakhanova ZR, Allamand V, Gartioux C, Zulfugarov KZ, Akhmedova PG, Tsargush VA, Titova AA, Mavlikeev MO, Zorin VL, Chernets EN, Dalgatov GD, Konovalov FA, Isaev AA., Free PMC Article | 01/15/2022 |
| Collagen type VIalpha1 and 2 repress the proliferation, migration and invasion of bladder cancer cells. | Collagen type VI‑α1 and 2 repress the proliferation, migration and invasion of bladder cancer cells.
Piao XM, Hwang B, Jeong P, Byun YJ, Kang HW, Seo SP, Kim WT, Lee JY, Ha YS, Lee YS, Kim IY, Choi YH, Cha EJ, Moon SK, Yun SJ, Kim WJ. | 12/11/2021 |
| Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme. | Identification of COL6A1 as the Key Gene Associated with Antivascular Endothelial Growth Factor Therapy in Glioblastoma Multiforme.
Lin H, Yang Y, Hou C, Zheng J, Lv G, Mao R, Xu P, Chen S, Zhou Y, Wang P, Zhou D. | 12/11/2021 |
| Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population. | Association analysis and functional study of COL6A1 single nucleotide polymorphisms in thoracic ossification of the ligamentum flavum in the Chinese Han population.
Qu X, Hou X, Chen Z, Chen G, Fan T, Yang X. | 10/30/2021 |
| Non-canonical Fzd7 signaling contributes to breast cancer mesenchymal-like stemness involving Col6a1. | Non-canonical Fzd7 signaling contributes to breast cancer mesenchymal-like stemness involving Col6a1.
Yin P, Bai Y, Wang Z, Sun Y, Gao J, Na L, Zhang Z, Wang W, Zhao C., Free PMC Article | 09/11/2021 |
| 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 |
| H3K27 acetylation activated-COL6A1 promotes osteosarcoma lung metastasis by repressing STAT1 and activating pulmonary cancer-associated fibroblasts. | H3K27 acetylation activated-COL6A1 promotes osteosarcoma lung metastasis by repressing STAT1 and activating pulmonary cancer-associated fibroblasts.
Zhang Y, Liu Z, Yang X, Lu W, Chen Y, Lin Y, Wang J, Lin S, Yun JP., Free PMC Article | 07/24/2021 |
| The impact of COL1A1 and COL6A1 expression on hypospadias and penile curvature severity. | The impact of COL1A1 and COL6A1 expression on hypospadias and penile curvature severity.
Yuri P, Gunadi, Lestari RP, Fardilla FP, Setyaningsih WAW, Arfian N, Dachlan I., Free PMC Article | 07/10/2021 |
| Involvement of nontriple helical type VI collagen alpha1 chain, NTH alpha1(VI), in the proliferation of cancer cells. | Involvement of non‑triple helical type VI collagen α1 chain, NTH α1(VI), in the proliferation of cancer cells.
Sato T, Tokunaka K, Saiga K, Tomura A, Sugihara H, Hayashi T, Imamura Y, Morita M. | 07/10/2021 |
| COL3A1, COL6A3, and SERPINH1 Are Related to Glucocorticoid-Induced Osteoporosis Occurrence According to Integrated Bioinformatics Analysis. | COL3A1, COL6A3, and SERPINH1 Are Related to Glucocorticoid-Induced Osteoporosis Occurrence According to Integrated Bioinformatics Analysis.
Li L, Yang M, Jin A., Free PMC Article | 05/22/2021 |
| Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations. | Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
Antoniel M, Traina F, Merlini L, Andrenacci D, Tigani D, Santi S, Cenni V, Sabatelli P, Faldini C, Squarzoni S., Free PMC Article | 02/27/2021 |
| The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament. | The COL6A1 rs201153092 single nucleotide polymorphism, associates with thoracic ossification of the posterior longitudinal ligament.
Wang P, Teng Z, Liu X, Liu X, Kong C, Lu S., Free PMC Article | 11/21/2020 |
| A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. | A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies.
Bolduc V, Foley AR, Solomon-Degefa H, Sarathy A, Donkervoort S, Hu Y, Chen GS, Sizov K, Nalls M, Zhou H, Aguti S, Cummings BB, Lek M, Tukiainen T, Marshall JL, Regev O, Marek-Yagel D, Sarkozy A, Butterfield RJ, Jou C, Jimenez-Mallebrera C, Li Y, Gartioux C, Mamchaoui K, Allamand V, Gualandi F, Ferlini A, Hanssen E, COL6A1 Intron 11 Study Group, Wilton SD, Lamandé SR, MacArthur DG, Wagener R, Muntoni F, Bönnemann CG., Free PMC Article | 06/27/2020 |
| Results identified compound heterozygous pathogenic COL6A1 variants (c.[98-6G>A];[301C>T]) in patients presenting with a clinical phenotype overlapping with collagen VI-related myopathies and Ehlers-Danlos syndrome. The COL6A1 variants abolished collagen VI and V deposition and increased tenascin-X levels. | 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 COL6A1 gene rs201153092A site polymorphism is a potential pathogenic mutation in thoracic ossification of the posterior longitudinal ligament. | A new single nucleotide polymorphism affects the predisposition to thoracic ossification of the posterior longitudinal ligament.
Wang P, Teng Z, Liu X, Liu X, Kong C, Lu S., Free PMC Article | 06/6/2020 |
| High COL6A1 expression is associated with metastasis in pancreatic cancer. | COL6A1 promotes metastasis and predicts poor prognosis in patients with pancreatic cancer.
Owusu-Ansah KG, Song G, Chen R, Edoo MIA, Li J, Chen B, Wu J, Zhou L, Xie H, Jiang D, Zheng S., Free PMC Article | 01/18/2020 |
| 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 |
| determined the common epitope between COL4A1 and COL6A1 as PXXGXPGLRG, with surface plasmon resonance analyses revealing KD values for the COL4A1 epitope as 5.56+/-1.81x10-9 M and for the COL6A1 epitope as 7.15+/-0.44x10-10 M | Identification of a common epitope in the sequences of COL4A1 and COL6A1 recognized by monoclonal antibody #141.
Sato T, Takano R, Takahara N, Tokunaka K, Saiga K, Tomura A, Sugihara H, Hayashi T, Imamura Y, Morita M. | 01/26/2019 |
| FKBP10 interacts with collagen VI and deficiency of FKBP10 reduces lung fibroblast migration by down-regulation of collagen VI synthesis. | FK506-binding protein 10 (FKBP10) regulates lung fibroblast migration via collagen VI synthesis.
Knüppel L, Heinzelmann K, Lindner M, Hatz R, Behr J, Eickelberg O, Staab-Weijnitz CA., Free PMC Article | 11/10/2018 |
| Five SNPs in the COL6A1 (and IL17RC) genes were found to be associated with susceptibility to ossification of the posterior longitudinal ligament in Han Chinese patients. | Association of IL17RC and COL6A1 genetic polymorphisms with susceptibility to ossification of the thoracic posterior longitudinal ligament in Chinese patients.
Wang P, Liu X, Zhu B, Ma Y, Yong L, Teng Z, Liang C, He G, Liu X., Free PMC Article | 10/6/2018 |
| the donor splice site of COL6A1 intron 14, associated with the phenotype of Bethlem myopathy or intermediate form, is a hot spot for ColVI myopathies | A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R. | 09/29/2018 |