Ask about this productRelated genes to: COL8A2 antibody
- Gene:
- COL8A2 NIH gene
- Name:
- collagen type VIII alpha 2 chain
- Previous symbol:
- FECD
- Synonyms:
- PPCD, FECD1, PPCD2
- Chromosome:
- 1p34.3
- Locus Type:
- gene with protein product
- Date approved:
- 1991-07-16
- Date modifiied:
- 2016-10-05
Related products to: COL8A2 antibody
Related articles to: COL8A2 antibody
- (Q455K) mice exhibit features of early-onset Fuchs' endothelial corneal dystrophy (FECD), including decreased endothelial cell density (ECD) and guttae formation. Within the context of these clinical features, this study longitudinally evaluates ferroptosis in Q455K and wild-type (WT) mice using imaging, PCR and immunohistochemistry. Fifty-six Q455K and 56 WT mice were evaluated from 3 to 24 months of age with in vivo confocal microscopy; ECD and guttae were measured. Ferroptosis marker expression was determined with PCR and immunohistochemistry (IHC). Data were analyzed using two-way ANOVA with Tukey's post hoc test, Chi-square test and a paired t-test. The ECD significantly decreased in both groups from 3 to 24 months of age, but more markedly in Q455K (2285 ± 317 to 1012 ± 58 cells/mm²) versus WT mice (2714 ± 139 to 2057 ± 149 cells/mm², <0.0001). Guttae were observed exclusively in Q455K mice beginning at 3 months of age and increased over time ( =0.0003). The Q455K mice demonstrate guttae at the vertices of corneal endothelial cells rather than their centers (74.3% vs. 25.7% 0.001). Expression of ferroptosis-related genes ( ) were significantly increased in the Q455K versus WT mice ( <0.05). Furthermore, corresponding protein expression (transferrin receptor 1, ferroportin, ferritin and glutathione peroxidase 4) was significantly elevated adjacent to guttae in Q455K versus WT mice ( <0.05). These findings implicate guttae in the initiation of ferroptosis as it relates to the pathophysiology of FECD and provide an optimal window for testing novel FECD therapies using this murine model, particularly those that target ferroptosis. - Source: PubMed
Publication date: 2026/07/10
Handel Karin WLim JaegookIwashita HirokoKhan SabinaShevalye HannaPark SangwanEcheverria NayeliFerneding MichelleKhan Meher JRoszak Karolina PDonovan Gabriella LIwamoto MakoShim JaehoYoung Laura JArdon MonicaLe SophieLeonard Brian CSkeie Jessica MGreiner Mark AThomasy Sara M - A trinucleotide repeat expansion in is thought to cause Fuchs endothelial corneal dystrophy (FECD) in ~70% of European patients. In addition, strong evidence exists for the involvement of rare variants in and in a small number of FECD cases, and more controversially, it has been suggested that variants in , , and may also be involved. We screened patients without a repeat expansion for causative variants in the other candidate FECD genes. - Source: PubMed
Publication date: 2025/12/01
Alayed BushraAlbuainain DanahSiddiqui SalinaLi WeijiaHany UmmeyAnand SeemaInglehearn Chris FWatson Christopher MAli Manir - Gestational diabetes mellitus (GDM) is associated with placental dysfunction, which contributes to adverse pregnancy outcomes. This study aimed to compare transcriptomic profiles and immune signatures in placentas from pregnancies with and without GDM. Placental tissues from 22 participants (12 GDM and 10 controls) were analyzed using ribonucleic acid sequencing. Differentially expressed genes were identified and subjected to gene ontology and Kyoto Encyclopedia of Genes and Genomes pathway analyses. X-cell analysis was used to assess immune cell composition. Western blotting validated the expression of selected genes. A total of 1045 differentially expressed genes were identified. Among these, COL22A1, COL8A2, ACTC1, PAX6, PPP2R2C, G6PC were significantly upregulated. In contrast, LEP and ERBB2 were downregulated in GDM placentas. Gene ontology and Kyoto Encyclopedia of Genes and Genomes analyses showed that extracellular matrix organization, muscle contraction, and calcium signaling pathways were upregulated. Pathways involved in glucose import, amino acid transport, and the endoplasmic reticulum (ER) stress response were downregulated. X-cell analysis suggested alterations in stromal and immune cell composition, with increased myocytes and fibroblasts and reduced M2 macrophages in GDM placentas. We found that various molecular signatures, including composition, metabolism, ER stress, and immune cells, were altered in GDM placentas compared to controls. This study demonstrates that the GDM placentas exhibit significant transcriptomic alterations, including changes in metabolic, ER stress-related, and immune pathways. These findings highlight the role of placental remodeling in the pathophysiology of GDM and may provide insights for future research and potential therapeutic strategies. - Source: PubMed
Kang Yea EunLee Seong EunLim Joung YoulKim Ok SoonYoon JiyeonJung YewonLee Ju HeeKu Bon JeongLee MinaKim Hyun Jin - Vasculogenic mimicry (VM) plays vital roles in tumor development that are closely relevant to patient adverse outcomes and chemoresistance. This study aimed to identify a novel VM-associated signature to forecast the prognosis and immunotherapy response of head and neck squamous cell carcinoma (HNSC) patients. - Source: PubMed
Publication date: 2026/04/30
Zhai YujiaGu XinyuHuang DiXue Miaomiao - Fuchs' endothelial corneal dystrophy (FECD) is a progressive corneal disease characterized by loss of corneal endothelial cells (CEnCs), eventually leading to blindness. Though mitochondrial dysfunction remains the central cause for endothelial cell death, its underlying metabolic drivers remain poorly defined. Hence, there is a need to investigate novel therapeutic approaches targeting metabolic dysregulation, rather than relying solely on surgical intervention. This study aims to explore the metabolic dysregulation in FECD and identify plausible novel non-invasive therapeutics. - Source: PubMed
Publication date: 2026/04/28
Nayak DivyaniKannan RamarajD'Souza SharonShivakumar ShivapriyaShetty RohitShetty NarenMalakar DipankarMachiraju PraveenDas DebashishGhosh ArkasubhraDeshpande VrushaliChakrabarty Koushik