DKC1 (Dyskerin Pseudouridine Synthase 1)

Single-cell analyses reveal tumor- and cell-type-specific expression patterns of RMEs, while supportive functional data suggest a potential biological relevance of NAT10 in HCC. Collectively, these findings provide an association-based framework for understanding the potential roles of RNA modification programs in cancer progression and clinical stratification.

P2, N=40, Active, not recruiting, Boston Children's Hospital | Trial primary completion date: Jul 2025 --> Jul 2026

These differences may contribute to the reprogramming of rRNA modification and ribosome composition in cancer cells. Moreover, our findings highlight the potential of antisense oligonucleotide-based targeting of overexpressed snoRNAs in GBM as a promising therapeutic strategy.

The prognostic model based on UPR related genes, COPS5, DKC1, NOP56, and EIF4G1, could predict the prognosis of HER2-low breast cancer patients.

Furthermore, cellular stress induces hnRNP A1, which is necessary for stress-induced ATF4 protein expression. Collectively, our findings uncover an MYC-driven DKC1-hnRNP A1 axis that links IRES-dependent translation and ATF4-mediated metabolic adaptation, thereby supporting cancer cell survival under metabolic stress during tumor progression.

DKC1 was identified as a regulator of GC development through the NF-κB pathway. It displayed a dual role as a diagnostic biomarker and therapeutic target. Elevated DKC1 expression correlated with aggressive clinicopathological features and a good diagnostic value in GC. Furthermore, DKC1 knockdown synergistically enhanced 5-FU efficacy. These data suggested that DKC1 is a potential tumor diagnostic biomarker and a therapeutic target for GC.

Combining R1D2-10 with PTX may provide an effective therapeutic strategy to reduce dose-related toxicity while enhancing chemotherapy effects in TNBC. Further in vivo studies are needed to validate these findings.

Our study expands the DKC1 mutation pool, which would help further comprehend the molecular mechanisms underlying DC. There is a need to emphasize molecular genetic testing in clinical settings in Pakistan to provide early, noninvasive and accurate diagnosis of inherited diseases.

The present findings unravel genomic alteration- and sex hormone-mediated dysregulation of the telomerase cofactor DKC1 in UCEC tumors, and its upregulation participates actively in the UCEC pathogenesis through tumor-intrinsic and extrinsic mechanisms. DKC1 assessment is useful for patient prognostication and personalized interventions.

P=N/A, N=61, Completed, Masonic Cancer Center, University of Minnesota | Active, not recruiting --> Completed | Trial completion date: Jul 2026 --> Mar 2025

Differentiated Ψ levels showed promising correlations with clinical markers such as cancer antigen 125, cancer antigen 153, and cancer antigen 199 in tumors, whereas Ψ sites in blood revealed enhanced correlations with routine blood indicators like white blood cells (WBCs) and alpha-fetoprotein (AFP). These findings underscore the significant role of RNA Ψ in CRC, providing valuable insights into its potential applications for clinical diagnosis and treatment.

We also identified a somatic mutation c.C101T in the U2AF1 gene of leukocytes, which may be associated with MDS development. Nintedanib was started, but the patient died of bilateral pneumothorax 6 months after diagnosis.