Multi-Cancer Detection Using Multiplex Droplet Digital PCR Methylation Assay Background Cancer is one of the leading causes of death worldwide, with nearly 10 million deaths reported in 2020. Although many cancers can be cured when detected and treated early, many patients are still diagnosed at advanced stages, leading to poor treatment outcomes. ...

Signal Integrator Function of CXXC5 in Cancer Academic Background CXXC5 (CXXC-type zinc finger protein 5) is a member of the ZF-CXXC protein family and plays a pivotal role in signal integration and information transfer within the cellular signaling network. By regulating multiple signaling pathways (such as Wnt/β-catenin, TGF-β/BMP, ATM/p53, etc.)...

The Oncogenic Role of Dppa4 in Pituitary Neuroendocrine Tumors Academic Background Pituitary Neuroendocrine Tumors (PitNETs) are common intracranial tumors that often exhibit hormone-secreting functions and are a significant cause of hypogonadism and infertility in humans. Although most PitNETs can be controlled through surgery and medication, some...

Global Profiling of Alternative Splicing in Non-Small Cell Lung Cancer Reveals Novel Histological and Population Differences Academic Background Lung cancer is one of the most frequently diagnosed cancers in the United States, with non-small cell lung cancer (NSCLC) accounting for the majority of cases. Among NSCLC, lung adenocarcinoma (LUAD) and l...

PRMT5-Regulated Splicing of DNA Repair Genes Drives Chemoresistance in Breast Cancer Stem Cells Academic Background Breast Cancer Stem Cells (BCSCs) are a rare subpopulation of cells within breast cancer that possess the ability to self-renew, initiate tumors, and metastasize. Despite their critical role in tumor initiation and progression, the mec...

Novel Germline Mutations in FUT7 and EXT1 Linked to Hereditary Multiple Exostoses Background Hereditary Multiple Exostoses (HME), also known as Hereditary Multiple Osteochondromas (HMO), is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-capped bone projections (osteochondromas). These osteochondromas ...

Digital Spatial Transcriptomics Highlights DTX3L and BST2 as Crucial Biomarkers in Esophageal Squamous Cell Carcinoma Tumorigenesis Background and Research Question Esophageal cancer (EC) remains a globally prevalent malignant disease with high incidence and mortality rates. Esophageal squamous cell carcinoma (ESCC), the most common histological su...

Study of Structural Variation in MECP2 Duplication Syndrome and Its Phenotypic Variability Academic Background MECP2 Duplication Syndrome (MRXSL) is an X-linked genomic disorder primarily caused by an increase in the copy number of the MECP2 gene on the X chromosome. This condition predominantly affects males, and its clinical features vary widely,...

Epigenome-wide DNA Methylation Study Highlights PTSD-Associated Sites: A Meta-Analysis Across 23 Military and Civilian Cohorts Background and Research Objectives Post-Traumatic Stress Disorder (PTSD) is a serious psychiatric condition triggered by exposure to traumatic events. It is characterized by intrusive memories, avoidance or emotional numbne...

Background and Research Question Ovarian cancer, as a fatal gynecological malignancy, has become the focus of recent studies, particularly on expanding the feasibility of targeted therapies. The introduction of poly(ADP-ribose) polymerase (PARP) inhibitors has marked a groundbreaking treatment option for ovarian cancer, especially for patients with...