COL1A1, collagen type I alpha 1 chain, 1277

N. diseases: 487; N. variants: 337
Disease: Systemic Scleroderma ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE EGFL7 decreases COL1A1 expression in EOS SSc-FBs while EGFL7 silencing up-regulates COL1A1 expression. 30872612 2019
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE We showed myofibroblast activation in SSc fibroblasts assessing the expression of α-SMA and Col1A1, after stimulation with TGF-β and ET-1. 26357964 2015
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 Biomarker disease BEFREE Attempts to elucidate whether interactions between Sp1/Sp3/c-Krox and p65 are necessary to mediate the NF-κB inhibitory effect on COL1A1 in ANF and SF were carried out; in this regard, immunoprecipitation assays revealed that they interact, and this was validated by re-ChIP. 22139845 2012
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 Biomarker disease LHGDN Akt blockade downregulates collagen and upregulates MMP1 in human dermal fibroblasts. 18323784 2008
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE These results suggest that EM703 inhibits the transcription of type I collagen in both normal and SSc fibroblasts, and that the transcription is inhibited through the CCAAT box of the COL1A1 promoter. 18036782 2008
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE Here, we demonstrate for the first time that CS and CSf exert an inhibitory effect on type I collagen protein synthesis and decrease the corresponding mRNA steady-state levels of COL1A1 and COL1A2 in NF and SF. 18298657 2008
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE We have investigated the role of hc-Krox transcription factor on type I collagen expression by human dermal fibroblasts. hc-Krox exerted a stimulating effect on type I collagen protein synthesis and enhanced the corresponding mRNA steady-state levels of COL1A1 and COL1A2 in foreskin fibroblasts (FF), adult normal fibroblasts (ANF), and scleroderma fibroblasts (SF). 17698844 2007
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE B-Myb acts as a repressor of human COL1A1 collagen gene expression by interacting with Sp1 and CBF factors in scleroderma fibroblasts. 14613485 2004
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease LHGDN B-Myb acts as a repressor of human COL1A1 collagen gene expression by interacting with Sp1 and CBF factors in scleroderma fibroblasts. 14613485 2004
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE Therefore, we examined the effects of ET-743 on the increased COL1A1 expression in SSc fibroblasts. 12881530 2003
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE These results indicate that the transcription factor CBF binds the human COL1A1 proximal promoter region in human dermal fibroblasts, and its binding activity is higher in SSc fibroblasts. 11037881 2000
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE The numbers of cells and grains per cell per square millimeter expressing alpha 1(I) procollagen mRNA in fibrotic zone SSc skin were significantly elevated compared with normal control skin (both P < 0.01). 10638330 1999
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 PosttranslationalModification disease BEFREE Electrophoretic mobility shift assays performed with oligonucleotides corresponding to the regions spanning -129/-107 bp and -104/-78 bp of the COL1A1 promoter revealed marked increases in the intensities of DNA-protein complexes formed with both oligonucleotides in nuclear extracts prepared from each of the SSc cell lines in comparison with normal fibroblasts. 9811061 1998
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 GeneticVariation disease BEFREE Transcription of the COL1A1 gene in SSc fibroblasts was induced 2-3-fold over that in controls in both monolayer and lattice cultures, accounting in part for the elevated steady-state level. 8615828 1996
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE These results suggest that only a specific subset of fibroblasts are activated in SSc, as evidence by an increased proportion of cells with high levels of alpha 1(I) procollagen mRNA. 8702442 1996
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 GeneticVariation disease BEFREE Transcriptional activation of the alpha 1(I) procollagen gene in systemic sclerosis dermal fibroblasts. Role of intronic sequences. 8702443 1996
CUI: C0036421
Disease: Systemic Scleroderma
Systemic Scleroderma 		0.100 AlteredExpression disease BEFREE Co-localization of transforming growth factor beta 2 with alpha 1(I) procollagen mRNA in tissue sections of patients with systemic sclerosis. 1697606 1990