COL4A1 (Collagen Type IV Alpha 1 Chain)

As the ECM is pivotal in regulating tumor invasion, immune evasion, and drug resistance, we propose that hypermethylation-associated disruption of ECM function may contribute to CRC progression. Our findings highlight potential biomarkers for early detection and novel therapeutic targets for epigenetic intervention.

These findings suggest that dysregulated gene expression may contribute to the activation of stromal cells and macrophages within the spleen, facilitating malignant transformation. Overall, these findings deliver novel transcriptomic insights into canine splenic tumorigenesis that may improve diagnostic precision, inform prognostic assessment, and support the development of targeted therapeutic strategies in veterinary oncology.

Ectopic expressions of DNMT1 impose an epigenetic checkpoint at those target loci by methylation of promoter DNA of the respective genes. We conclude that, gene specific hypomethylation of some genes, including COL1A1, COL1A2, COL4A1, SPP1, SPARC, and THBS2 drives COAD and would serve as potential markers for COAD screening.

P=N/A, N=120, Recruiting, Meyer Children's Hospital IRCCS

We established an effective prognostic model. Ultimately, through a series of in vitro function experiments, COL4A1 was recognized as a new potential target for the therapeutic intervention of CC.

Notably, these driver mutations showed a negative association with the SCLC-inflamed subtype, which is characterized by increased immune infiltration and prolonged survival. Our findings highlight the untapped potential of RNA-seq for somatic mutation profiling in SCLC and unveil novel molecular targets with implications for patient stratification, immunotherapy, and precision treatment strategies.

Our analysis identified transcriptomic changes between spheroid 3D cultures of early and late AOO G206A carriers in genes previously implicated in multiple studies of AD pathogenesis and neurodevelopmental disorders. Our results suggest that pathways involved in vascular morphogenesis, lipid processing, protein aggregation and neuronal regulation may be contributing to the variability in AD AOO observed in G206A carriers.

Our findings underscore the pivotal role of CD146+ CAFs in shaping an immunosuppressive microenvironment and highlight CD146+ CAFs and COL4A1 as promising candidates for targeted therapy in gastric cancer.

Immunofluorescent double staining was used to examine the co-expression of CD31 in α-SMA-positive CAFs to identify whether the endothelial-to-mesenchymal transition (EndoMT) is involved in the origin, and obvious colocalization was observed. Visium and Visium HD spatial transcriptomics further revealed endothelial cells (ECs) exhibited remarkable co-expression of CAF-specific marker genes and revealed inferred developmental trajectories to CAFs; molecular determinants, including TIMP1, IGFBP7, THBS2, CD74, COL4A1, COL4A2, AEBP1, S100A6, KCTD12, CALD1, IGHG1, SERPINE1, MCL1, MGP, GSTP1, TAGLN, THBS1, and CTGF, were positively correlated with the spatial developmental trajectories of ECs to CAFs; and CTGF exhibited extensive interactions with other common positively correlated molecular determinants and was a highly connected node in the interaction network. ECs that undergo EndoMT may be one of the potential cellular and mechanical origins of CAFs in HCC, and the development of EndoMT may be associated with CTGF.

This study identifies THBS2, CTNNB1, COL4A1, and E2F3 as key H. pylori-associated oncogenic drivers in STAD. Functional assays demonstrate that H. pylori enhance malignant phenotypes through COL4A1 and CTNNB1, while gene silencing reverses these effects. These findings highlight the hub genes and their regulatory miRNAs as promising diagnostic biomarkers and potential therapeutic targets in H. pylori-related gastric cancer.

The GPSICCA score was positively correlated with stromal and immune scores, suggesting its predictive capability is related to TME involvement in ICCA. The GPSICCA model is a strong predictor of survival in ICCA patients and could help guide treatment strategies and identify potential therapeutic targets.

However, it has limitations such as lack of in-vivo animal model validation, unclear core gene-immune cell interaction mechanisms, and insufficient sample diversity. Overall, this research provides new insights into GC pathogenesis and directions for future studies on diagnosis and treatment.