All Relations between col6a1 and matrix compartment

Publication Sentence Publish Date Extraction Date Species
Marta Halasa, Ahmed Uosef, Henry V Ubelaker, Arijita Subuddhi, Krupa R Mysore, Jacek Z Kubiak, Rafik M Ghobrial, Jarek Wosik, Malgorzata Klo. Gadolinium retention effect on macrophages - a potential cause of MRI contrast agent Dotarem toxicity. Cell and tissue research. 2024-04-16. PMID:38625373. gadolinium retention for 7 days decreased macrophage adhesion and motility and dysregulated the expression of adhesion and fibrotic pathway-related proteins such as notch1 and its ligand jagged1, adhesion/migration-related proteins pak1 and shp1, immune response-related transcription factors smad3 and tcf19, and chemokines cxcl10 and cxcl13, and dysregulated the mrna expression of fibrosis-related genes involved in extracellular matrix (ecm) synthesis, such as col6a1, fibronectin, mmp9, and mmp12. 2024-04-16 2024-04-18 Not clear
Carmelo Milioto, Mireia Carcolé, Ashling Giblin, Rachel Coneys, Olivia Attrebi, Mhoriam Ahmed, Samuel S Harris, Byung Il Lee, Mengke Yang, Robert A Ellingford, Raja S Nirujogi, Daniel Biggs, Sally Salomonsson, Matteo Zanovello, Paula de Oliveira, Eszter Katona, Idoia Glaria, Alla Mikheenko, Bethany Geary, Evan Udine, Deniz Vaizoglu, Sharifah Anoar, Khrisha Jotangiya, Gerard Crowley, Demelza M Smeeth, Mirjam L Adams, Teresa Niccoli, Rosa Rademakers, Marka van Blitterswijk, Anny Devoy, Soyon Hong, Linda Partridge, Alyssa N Coyne, Pietro Fratta, Dario R Alessi, Ben Davies, Marc Aurel Busche, Linda Greensmith, Elizabeth M C Fisher, Adrian M Isaac. PolyGR and polyPR knock-in mice reveal a conserved neuroprotective extracellular matrix signature in C9orf72 ALS/FTD neurons. Nature neuroscience. 2024-02-29. PMID:38424324. quantitative proteomics revealed an increase in extracellular matrix (ecm) proteins in (gr)400 and (pr)400 spinal cord, with the collagen col6a1 the most increased protein. 2024-02-29 2024-03-03 mouse
Chang Gao, Bin Ni, Xiaolu Lu, Chunyu Guo, Guilin We. An integrated investigation of 16S rRNA gene sequencing and proteomics to elucidate the mechanism of Corydalis bungeana Turcz. on dextran sulfate sodium-induced colitis. Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie. vol 167. 2023-09-23. PMID:37741254. extracellular matrix (ecm) receptor-associated proteins such as col6a1 and cd36 may be important targets for cbt treatment of uc. 2023-09-23 2023-10-07 mouse
Qianming Jiang, Valentino Palombo, Danielle N Sherlock, Mario Vailati-Riboni, Mariasilvia D'Andrea, Ilkyu Yoon, Juan J Loo. Alterations in ileal transcriptomics during an intestinal barrier challenge in lactating Holstein cows fed a Saccharomyces cerevisiae fermentation product identify potential regulatory processes. Journal of animal science. 2023-08-24. PMID:37616596. an overall downregulation of cell and tissue structure genes (e.g., extracellular matrix proteins) associated with collagen (col6a1, col1a1, col4a1, col1a2, col6a2), laminin (lamb2), and integrins (itga8, itga2, itga5) also were detected with scfp. 2023-08-24 2023-09-07 Not clear
Anna Ky Kwong, Yanmin Zhang, Ronnie Sl Ho, Yuan Gao, Xu Ling, Mandy Hy Tsang, H M Luk, Brian Hy Chung, Carsten G Bönnemann, Asif Javed, Sophelia Hs Cha. Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study. Neuromuscular disorders : NMD. vol 33. issue 5. 2023-04-06. PMID:37023487. the transcriptome data from the muscle biopsies of two patients in the study with dominant negative mutations [col6a2:c.811g>c and col6a1:c.930+189c>t] supports the accepted aetiology of collagen vi myopathy as dysfunction of the extracellular matrix. 2023-04-06 2023-08-14 Not clear
Martina Trentini, Ilaria Zanolla, Federica Zanotti, Elena Tiengo, Danilo Licastro, Simeone Dal Monego, Luca Lovatti, Barbara Zava. Apple Derived Exosomes Improve Collagen Type I Production and Decrease MMPs during Aging of the Skin through Downregulation of the NF-κB Pathway as Mode of Action. Cells. vol 11. issue 24. 2022-12-23. PMID:36552714. adnvs also reduce extracellular matrix degradation by increasing collagen synthesis (col3a1, col1a2, col8a1 and col6a1) and downregulating metalloproteinase production (mmp1, mmp8 and mmp9). 2022-12-23 2023-08-14 Not clear
Abhinandan Batra, Donovan J Lott, Rebecca Willcocks, Sean C Forbes, William Triplett, Jahannaz Dastgir, Pomi Yun, A Reghan Foley, Carsten G Bönnemann, Krista Vandenborne, Glenn A Walte. Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study. Journal of neuromuscular diseases. vol 7. issue 4. 2021-07-22. PMID:32538860. col6-rds are caused by mutations in the col6 genes (col6a1, col6a2 and col6a3) encoding the extracellular matrix protein collagen vi, and dmd is caused by mutations in the dmd gene encoding the cytoplasmic protein dystrophin. 2021-07-22 2023-08-13 Not clear
Jung-Seok Lee, Goran Mitulović, Layla Panahipour, Reinhard Grube. Proteomic Analysis of Porcine-Derived Collagen Membrane and Matrix. Materials (Basel, Switzerland). vol 13. issue 22. 2020-12-01. PMID:33212864. the common extracellular matrix proteins include fibrillar collagens (col1a1, col1a2, col2a1, col3a1, col5a1, col5a2, col5a3, col11a2), non-fibrillar collagens (col4a2, col6a1, col6a2, col6a3, col7a1, col16a1, col22a1), and leucine-rich repeat proteoglycans (dcn, lum, bgn, prelp, ogn). 2020-12-01 2023-08-13 Not clear
Zongxiang Chen, Qingjian Wu, Chengjun Yan, Juan D. COL6A1 knockdown suppresses cell proliferation and migration in human aortic vascular smooth muscle cells. Experimental and therapeutic medicine. vol 18. issue 3. 2020-10-01. PMID:31410158. col6a1 silencing attenuated pdgf-bb-induced increases in cell viability and invasive abilities of vsmcs, in addition to partially reversing the increased expression of fibronectin (fn), matrix metalloproteinase (mmp)-2 and mmp-9 induced by pdgf-bb stimulation. 2020-10-01 2023-08-13 human
Yasemin Yuyucu Karabulut, Emre Çağatay Köse, Murat Bozlu, Ferah Tuncel, Gül Emek Yüksek, Demet Etit, Havva Serap Toru, Bahar Akkaya, Zeliha Esin Çelik, Meltem Öznur, Gülhan Örekici Temel, Erdem Akba. The role of COL6A1and PD-1 expressions in renal cell carcinoma. Turkish journal of urology. 2020-09-28. PMID:32479254. the col6a1 is a gene encoding the alpha 1 polypeptide subunit of collagen 6 (col6a1), an extracellular matrix protein subunit. 2020-09-28 2023-08-13 Not clear
Véronique Bolduc, A Reghan Foley, Herimela Solomon-Degefa, Apurva Sarathy, Sandra Donkervoort, Ying Hu, Grace S Chen, Katherine Sizov, Matthew Nalls, Haiyan Zhou, Sara Aguti, Beryl B Cummings, Monkol Lek, Taru Tukiainen, Jamie L Marshall, Oded Regev, Dina Marek-Yagel, Anna Sarkozy, Russell J Butterfield, Cristina Jou, Cecilia Jimenez-Mallebrera, Yan Li, Corine Gartioux, Kamel Mamchaoui, Valérie Allamand, Francesca Gualandi, Alessandra Ferlini, Eric Hanssen, Steve D Wilton, Shireen R Lamandé, Daniel G MacArthur, Raimund Wagener, Francesco Muntoni, Carsten G Bönneman. A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies. JCI insight. vol 4. issue 6. 2020-06-22. PMID:30895940. here, we show that a deep intronic splice defect in the col6a1 gene, originally discovered by applying muscle rna sequencing in patients with clinical findings of collagen vi-related dystrophy (col6-rd), inserts an in-frame pseudoexon into col6a1 mrna, encodes a mutant collagen α1(vi) protein that exerts a dominant-negative effect on collagen vi matrix assembly, and provides a unique opportunity for splice-correction approaches aimed at restoring normal gene expression. 2020-06-22 2023-08-13 Not clear
Christopher R Paradise, Catalina Galeano-Garces, Daniela Galeano-Garces, Amel Dudakovic, Todd A Milbrandt, Daniel B F Saris, Aaron J Krych, Marcel Karperien, Gabriel B Ferguson, Denis Evseenko, Scott M Riester, Andre J van Wijnen, A Noelle Larso. Molecular characterization of physis tissue by RNA sequencing. Gene. vol 668. 2018-06-13. PMID:29775757. further analysis of these upregulated genes identified physis-specific networks of extracellular matrix proteins including collagens (col2a1, col6a1, col9a1, col14a1, col16a1) and matrilins (matn1, matn2, matn3), and signaling proteins in the wnt pathway (wnt10b, fzd1, fzd10, dkk2) or the fgf pathway (fgf10, fgfr4). 2018-06-13 2023-08-13 human
Adele D'Amico, Fabiana Fattori, Giorgio Tasca, Stefania Petrini, Francesca Gualandi, Alessandro Bruselles, Valentina D'Oria, Margherita Verardo, Rosalba Carrozzo, Marcello Niceta, Bjarne Udd, Alessandra Ferlini, Marco Tartaglia, Enrico Bertin. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 21. issue 6. 2018-05-09. PMID:28760337. collagen vi-related disorders (col6-rd) are a group of heterogenous muscular diseases due to mutations in the col6a1, col6a2 and col6a3 genes, encoding for collagen vi, a critical component of the extracellular matrix. 2018-05-09 2023-08-13 Not clear
Yayoi Izu, Yoichi Ezura, Manuel Koch, David E Birk, Masaki Nod. Collagens VI and XII form complexes mediating osteoblast interactions during osteogenesis. Cell and tissue research. vol 364. issue 3. 2017-03-06. PMID:26753503. quantification of cells harboring collagen bridges demonstrated that matrix bridges were composed of collagens vi and xii but not collagen i. interestingly, matrix bridge formation was impaired in osteoblasts deficient in either col6a1 or col12a1, suggesting that both collagens were indispensable for matrix bridge formation. 2017-03-06 2023-08-13 mouse
Annarita Armaroli, Cecilia Trabanelli, Chiara Scotton, Anna Venturoli, Rita Selvatici, Giacomo Brisca, Luciano Merlini, Claudio Bruno, Alessandra Ferlini, Francesca Gualand. Paternal germline mosaicism in collagen VI related myopathies. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 19. issue 5. 2016-02-25. PMID:25978941. collagen vi-related disorders are a group of muscular diseases characterized by muscle wasting and weakness, joint contractures, distal laxity, serious respiratory dysfunction and cutaneous alterations, due to mutations in the col6a1, col6a2 and col6a3 genes, encoding for collagen vi, a critical component of the extracellular matrix. 2016-02-25 2023-08-13 Not clear
Paolo Bernardi, Paolo Bonald. Mitochondrial dysfunction and defective autophagy in the pathogenesis of collagen VI muscular dystrophies. Cold Spring Harbor perspectives in biology. vol 5. issue 5. 2013-12-19. PMID:23580791. consistently, the col6a1(-/-) myopathic mice could be cured through inhibition of cyclophilin d, a matrix protein that sensitizes the pore to opening, and through stimulation of autophagy. 2013-12-19 2023-08-12 mouse
Kosjenka Frka, Nicola Facchinello, Claudia Del Vecchio, Andrea Carpi, Matteo Curtarello, Rina Venerando, Alessia Angelin, Cristina Parolin, Paolo Bernardi, Paolo Bonaldo, Dino Volpin, Paola Braghetta, Giorgio M Bressa. Lentiviral-mediated RNAi in vivo silencing of Col6a1, a gene with complex tissue specific expression pattern. Journal of biotechnology. vol 141. issue 1-2. 2009-07-24. PMID:19428725. here we analyze how different factors influence rnai mediated silencing of col6a1, a gene of the extracellular matrix with a complex pattern of tissue specific expression. 2009-07-24 2023-08-12 mouse
D Hicks, A K Lampe, S H Laval, V Allamand, C Jimenez-Mallebrera, M C Walter, F Muntoni, S Quijano-Roy, P Richard, V Straub, H Lochmüller, K M D Bushb. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue. Brain : a journal of neurology. vol 132. issue Pt 1. 2009-03-10. PMID:19015158. mutations in col6a1, col6a2 and col6a3, the genes which encode the extra-cellular matrix component collagen vi, lead to bethlem myopathy and ullrich congenital muscular dystrophy (ucmd). 2009-03-10 2023-08-12 mouse
Paolo Bernardi, Paolo Bonald. Dysfunction of mitochondria and sarcoplasmic reticulum in the pathogenesis of collagen VI muscular dystrophies. Annals of the New York Academy of Sciences. vol 1147. 2009-01-07. PMID:19076452. consistently, the col6a1(-/-) myopathic mice could be cured with cyclosporin a through inhibition of cyclophilin d, a matrix protein that sensitizes the pore to opening. 2009-01-07 2023-08-12 mouse
D Hicks, A K Lampe, R Barresi, R Charlton, C Fiorillo, C G Bonnemann, J Hudson, R Sutton, H Lochmüller, V Straub, K Bushb. A refined diagnostic algorithm for Bethlem myopathy. Neurology. vol 70. issue 14. 2008-05-02. PMID:18378883. mutations in col6a1, col6a2, and col6a3, the genes that encode the extracellular matrix component collagen vi, lead to bethlem myopathy (bm) and ullrich congenital muscular dystrophy (ucmd). 2008-05-02 2023-08-12 Not clear