Ask about this productRelated genes to: COL3A1 protein
- Gene:
- COL3A1 NIH gene
- Name:
- collagen type III alpha 1 chain
- Previous symbol:
- EDS4A
- Synonyms:
- -
- Chromosome:
- 2q32.2
- Locus Type:
- gene with protein product
- Date approved:
- 2001-06-22
- Date modifiied:
- 2019-04-23
Related products to: COL3A1 protein
Related articles to: COL3A1 protein
- Cytogenetics analysis of adipocytic tumours revealed varieties of chromosomal translocations beyond MDM2 amplification, so, this report aimed to identify these translocations and recognise the altered genes with their fusion partners. - Source: PubMed
Atta I SShafek S IAbdel-Hamid M - Progressive fibrosis is a hallmark of Duchenne muscular dystrophy (DMD) pathology, driving muscle degeneration and failure. However, the key transcriptomic programs and hub gene networks associated with extracellular matrix remodeling in DMD remain incompletely characterized. We employed weighted gene coexpression network analysis (WGCNA) on transcriptomic data to identify disease-associated modules. Through intersection with GeneCards and topological screening of protein-protein interaction networks, key hub genes were isolated. We further characterized the immune microenvironment via CIBERSORT and traced the cellular origin of the signature using single-cell RNA sequencing (scRNA-seq). Finally, drug prediction coupled with molecular docking was validated in vitro using a TNF-induced fibroblast inflammation model. Six pivotal hub genes (COL1A1, COL1A2, COL3A1, DCN, SPARC, and TIMP1) were identified, all exhibiting significant upregulation and exceptional diagnostic value (AUC > 0.90). This signature was intimately linked to a proinflammatory microenvironment dominated by macrophages and γδ T cells. Crucially, scRNA-seq mapped these fibrotic signals specifically to tendon fibroblasts. Halofuginone was identified as a candidate therapeutic agent, showing robust binding affinities (< - 5.0 kcal/mol) to the hub proteins. In vitro assays showed that halofuginone significantly reduced the mRNA and protein abundance of these fibrosis-associated hub genes under inflammatory stimulation. This study delineates a tendon fibroblast-derived gene signature associated with DMD fibrosis and provides supportive evidence that halofuginone may modulate this hub network, highlighting its potential as an antifibrotic candidate in DMD. - Source: PubMed
Publication date: 2026/04/29
Luo ZhiliHu FangWei XiaolingChen MinWang Xiaolin - Aortic dissection or rupture is a leading cause of mortality in vascular Ehlers-Danlos syndrome (VEDS), a disorder caused by mutations in the COL3A1 gene. Col3a1G938D/+ mice recapitulate features of VEDS, including high risk of aortic rupture. As in people with VEDS, aortic risk in this model accelerates at the onset of puberty, especially in males. We identify developmentally regulated gene programs associated with this vulnerability and that are targeted by treatments that mitigate aortic risk. Both genetic and pharmacological inhibition of the androgen receptor (AR) eliminated survival differences between sexes, while treatment with a dual AR and mineralocorticoid receptor (MR) antagonist provided near-complete and durable protection in both sexes. Pathways targeted by dual AR/MR inhibition, including those related to extracellular matrix (ECM) organization and cell-ECM interactions, largely overlapped with those also modulated by isolated MR antagonism. Selective targeting of MR signaling emerged as an effective therapeutic strategy in both sexes that avoids sexual side effects in males. - Source: PubMed
Publication date: 2026/04/28
Juzwiak Emily EBowen Caitlin JEdwards RhiannonRestrepo LedaLee SerenaParks Cassie AZeng AnthonyBlack Maya MReyes Gaido Oscar EBramel Emily EShigaki Dustin TBeer Michael ABellini ChiaraDietz Harry CGallo MacFarlane Elena - The inflammatory response is a direct factor leading to changes in the microenvironment of renal tissues. The immune cells and stromal cells infiltration were the essential characteristics of diabetic nephropathy (DN). Based on the differentiation of the microenvironment, describing the heterogeneity of DN may provide a new approach to explore the mechanisms of disease progression. This study was aimed to classify DN samples based on the infiltration levels of immune cells and stromal cells, describe the microenvironment heterogeneity of DN samples, explore the potential mechanisms of phenotypic differentiation, screen key pathogenic genes, construct a quantitative scoring model to describe the microenvironment, and investigate the role of key pathogenic genes of DN. We downloaded RNA sequencing datasets of DN tissue and normal kidney tissue (GSE142025 and GSE96804) from the Gene Expression Omnibus (GEO) database. The RNA sequencing data was transformed into immune cell and stromal cell infiltration data using the xCell algorithm. Ward's method was used for consensus clustering to identify different phenotypes of DN. We screened out the key pathogenic genes associated with phenotypes, and established a scoring model through principal component analysis which was tested the reliability and accuracy in the training cohort and the validation cohort. We explored the influence of key pathogenic genes on the biological behavior of human mesangial cells. Based on the heterogeneity of the diabetic nephropathy (DN) microenvironment, this study identified 15 key pathogenic genes: FN1, EGR1, TPM1, CCND2, COL1A2, TGFB2, COL6A3, ITGA11, ABCC9, THBS2, TNC, COL3A1, C7, C1QC, and ITGB6. The PCA score constructed from these genes (i.e., their first principal component, PC1) demonstrated good efficacy in distinguishing normal samples from DN samples (AUC = 0.90, 95 % CI [0.82-0.97]), differentiating DN subtypes with distinct microenvironments (AUC = 0.99, 95 % CI [0.97-1.00]), and stratifying DN samples at different disease stages. This score showed significant positive correlations with immune score (r = 0.75, = 1.6e-7) and stromal score (r = 0.96, < 2.2e-16). Under high-glucose stimulation, the protein and mRNA expression of ABCC9 in mesangial cells increased over time. Knockdown of ABCC9 partially counteracted the high glucose-induced increase in apoptosis and enhancement of migration in mesangial cells. In an external validation cohort, both the PCA score (AUC = 0.91 for distinguishing normal from DN; AUC = 0.95 for differentiating DN subtypes) and ABCC9 expression (AUC = 0.93 for distinguishing normal from DN; AUC = 0.90 for distinguishing early from advanced DN) further confirmed their association with the DN microenvironment and disease progression. FN1, EGR1, TPM1, CCND2, COL1A2, TGFB2, COL6A3, ITGA11, ABCC9, THBS2, TNC, COL3A1, C7, C1QC, and ITGB6 are potential key pathogenic genes in DN. The PCA score constructed based on these genes can distinguish between normal tissue phenotype and DN phenotype, quantitatively describing the immune microenvironment and stromal microenvironment of DN, reflecting the progression of DN. Knocking out ABCC9 can counteract the increased apoptosis and migration of glomeruli mesangial cells induced by high glucose. - Source: PubMed
Publication date: 2026/04/17
Tan MiaoXue JingjingTan JinchuanRen MeifangZhang QianChen SuzhiSong RuijingNui YuhanZhao YicongLi YongzhangYang Fengwen - Laryngotracheal stenosis (LTS) is a fibroproliferative disease of the upper airway characterised by dysregulated extracellular matrix deposition and fibroblast activation. AlkB Homologue 5 (ALKBH5) has emerged as a key regulator of disease pathogenesis by modulating mRNA stability, yet its role in LTS remains unclear. - Source: PubMed
Wang JingLiao ZiweiXu MengrouZheng YangyangHu BinXia QianhuiXu Hongming