BLM (BLM RecQ Like Helicase)

Further studies revealed that this inhibitory effect is associated with its suppression of BLM DNA helicase and c-MYC expression. In summary, LYY-34 may serve as a potential therapeutic agent for TNBC by inhibiting the BLM DNA helicase /c-MYC axis.

The patient was treated with an oxaliplatin-based regimen (mFOLFOX6), modified due to comorbidities, achieving disease stabilization...The presence of pathogenic variants in DNA damage response (DDR) genes (BLM and ATM) suggests a defect in homologous recombination, providing a rationale for platinum-based therapy. We discuss the implications of BLM mutations on therapeutic selection, potential immune checkpoint interactions, and the role of synthetic lethality in management.

However, the rarity and heterogeneity of syndrome-related osteosarcomas pose significant challenges for diagnosis and treatment, including difficulties in early detection, incomplete elucidation of molecular mechanisms, and limitations of conventional therapeutic approaches. This article aims to systematically review the clinical characteristics, molecular mechanisms, and therapeutic challenges of these syndromes, providing a comprehensive reference for clinicians and directions for future research.

Clarification of the molecular diagnosis had important implications for these parents because they carried a 25% risk of recurrence. They were recommended to plan future pregnancies with preimplantation genetic testing for monogenic disorders to avoid future offspring with BS.

P1/2, N=70, Recruiting, Incyte Biosciences International Sàrl | Trial completion date: Jan 2026 --> Feb 2028 | Trial primary completion date: Jan 2026 --> Feb 2028

Defectively repaired DNA injury endangers genomic integrity, predisposing to cancer, and activates the immune system to increase interferon production and subsequent insulin resistance. Hypoxia-inducible factor-1 and cytokines induce insulin resistance by suppressing peroxisome proliferator-activated-γ in the subcutaneous adipose tissue.

This proposed target-triggered CHA-G4-DNAzyme biosensing system on ENFs revealed its applicability for the detection of UDG activity in complex biological samples including real cell lysates and human serums, thereby providing a powerful tool for biomedical research and clinical diagnosis. Multicolor visual effect and target-induced DNAzyme catalytic detection strategy are superior to traditional ELISA methods.

In addition, recent discoveries have identified some DDR helicases in novel synthetic lethal interactions. In this critical review, we will focus on human DNA helicases that are directly or indirectly involved in DDR with special emphasis on their mechanistic actions and clinical implications.

Furthermore, in vivo studies confirmed that shBLM/DOX-NPs@231 effectively targeted therapy, thereby improving the efficacy of chemotherapy while exhibiting favorable biosafety profiles. Consequently, this nanodelivery system, which integrates gene therapy with chemotherapeutic agents, presents a promising and safe approach for the treatment of TNBC.

Dose modified multiagent chemotherapy was well tolerated in an adolescent patient with Bloom Syndrome and metastatic colorectal cancer.

In this review, we provide an overview of the RecQ helicases, focusing on the molecular functions and mechanisms, as well as the consequences of their dysfunction in cellular processes. We also discuss the significance of RecQ helicases in preventing various genetic disorders (BS, WS, RTS) and the insights obtained from the different animal models developed for studying the pathophysiology of RecQ helicase deficiencies.

Four relapsed, and four died, including one toxic death. However, five achieved remission, highlighting the possibility of curative treatment despite significant toxicities.