COL1A1
HGNC:2197 · 24 retained evidence mentions
Source-grounded findings
Supporting evidence
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | COL1A1 | “A Homozygous Missense COL1A1 Variant (p.Glu684Lys) Associated with an Arthrochalasia-like Ehlers-Danlos Syndrome Phenotype: A Case Report.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “RIS intoxication induced hepatic fibrosis as well as inflammation via upregulating the gene expression of transforming growth factor beta receptor 2 (TGFBR2), transforming growth factor beta receptor 1 (TGFBR1), nuclear factor- kappa B (NF-κB), transforming growth factor beta-1 (TGF-β1), collagen type I alpha 1 (COL1A1), tumor necrosis factor-alpha (TNF-α), SMAD3, cyclooxygenase-2 (COX-2), interleukin-6 (IL-6), SMAD4 & interleukin-1beta (IL-1β).” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “AZO intoxication at all the tested doses upregulated the gene expression of TGF-β1, SMAD2, CYP19A1, FKBP5, SMAD3, COL1A1 and TGFBR1 while suppressing the expression of 3β-HSD, AR, SRD5A1, StAR, 17β-HSD, and KLK3.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Notably, COL1A1 and NQO1 were upregulated in tumor tissues and associated with poor survival outcomes, while FOS was downregulated.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Protein-protein interactions among DEGs revealed a network from which seven hub genes (VIM, COL1A1, COL3A1, COL1A2, DCN, CXCR2, and S100A9) were identified using the cytoHubba plugin in Cytoscape software.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “COL1A1, ITGB1, THY1, and PDGFRA: key immune-related genes in uterine corpus endometrial carcinoma with prognostic and therapeutic implications.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Importantly, COL1A1 was identified as the pivotal target regulating the pathogenic cluster protein implicated in cancer pathways.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “In vitro, stimulation of human bronchial fibroblasts with S100A8/S100A9 upregulated fibrotic markers (COL1A1 and α-SMA), which were reduced by inhibitors of TLR4 and RAGE receptors, as well as by paquinimod.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “RNASeq identified four genes differentially expressed between the JDM and non-JDM twins: DCD, KRT14, COL1A1, and COL3A1.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Shilajit promoted a controlled inflammatory response and supported periodontal ligament healing by upregulating the expression of genes involved in collagen synthesis, collagen type I alpha 1 chain (COL1A1) and pro-inflammatory cytokines, tumor necrosis factor alpha (TNF-α) and, interleukin-1-beta (IL-1β), according to real-time PCR data.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Further, RT-PCR and Western blot analysis validated the expression of target genes including the overexpression of HSPA1B, FOS, and down-expression of SOD2, COL1A1, and CCL2, whereas TFs including upregulation of RELA, NFKB1, STAT3, and downregulation of SP1 and JUN in diabetic and diabetic infectious wounds.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Finally, eight hub genes-COL6A3, COL1A1, COL3A1, COL1A2, POSTN, TIMP1, THBS2 and SPP1-were pinpointed as central players in the network.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “RT-qPCR measured expression of osteogenic genes RUNX2, COL1A1, and OCN.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “In subjects with extra-skeletal clinical OI features, 69% were found to have pathogenic variants in COL1A1 or COL1A2.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Osteogenesis imperfecta is commonly associated with mutations of the genes encoding for type I collagen (COL1A1/COL1A2).” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Integration of gene networking data, with additional parameters like estimation of mutation burden of tumors and cancer driver gene identification, has led to the finding of 4 hubs (JUN, VCAN, TOP2A, and COL1A1) and 8 bottleneck genes (PIK3R1, MYH11, KDR, ESR1, WT1, CCND1, EZH2, and CDKN2A), which showed a clear distinction in their distribution pattern among leiomyomas and leiomyosarcomas.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “The macrophages profoundly affected the production of mineralized nodules by osteoblasts and significantly reduced the expression of COL1A1, OSX, and OCN genes.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Tempo-sequence assay for gene expression of COL1A1 and COL3A1 was used to confirm the expression of collagen.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “RESULTS: The in vitro experiment demonstrated the lack of cytotoxicity and inert properties of seeded DSMG; these facilitated the osteogenic differentiation and significant gene expressions, particularly of COL1A1, RUNX2, and OPN (1.9174 ± 0.11673, 1.1806 ± 0.02383, and 1.1802 ± 0.00775, respectively).” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Fedratinib exerted significant inhibitory effects on the osteoblastic differentiation of hMSC-TERT cells, as demonstrated by reduced ALP activity, in vitro mineralised matrix formation and downregulation of osteoblast-related gene expression, including ALP, ON, OC, RUNX2, OPN, and COL1A1.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Further Evidence of a Recessive Variant in COL1A1 as an Underlying Cause of Ehlers-Danlos Syndrome: A Report of a Saudi Founder Mutation.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “Expression of 4 candidate biomarker genes, PNPLA3, COL1A1, PPP1R3B, and KLF6 were evaluated at gene and protein levels by RT-qPCR and enzyme-linked immunosorbent assay (ELISA), respectively.A significant increase in the levels of COL1A1 protein (P = .03) and PNPLA3 protein (P = .03) were observed in patients with fibrosis-stage NAFLD compared to that in patients with steatosis-stage NAFLD.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “We also describe the first recessive EDS-like condition to be caused by a recessive COL1A1 variant.” | 0.98 | hgnc_dict_v1 |
| gene | COL1A1 | “METHODS: We enrolled multiplex consanguineous families and simplex cases (also consanguineous) in which mutations in COL1A1 and COL1A2 had been excluded.” | 0.98 | hgnc_dict_v1 |