Primary Open-Angle Glaucoma Polygenic Risk Score and Risk of Disease Onset: A Post Hoc Analysis Academic Background Primary open-angle glaucoma (POAG) is the most common form of glaucoma, often associated with elevated intraocular pressure (IOP). It is an irreversible optic neuropathy that, if untreated, can lead to vision loss. While IOP-lowering ...

Research on Juvenile Xanthogranuloma Reveals Novel Genetic Mutations Juvenile xanthogranuloma (JXG), a rare histiocytic neoplasm, typically manifests in the skin but occasionally presents extracutaneously in locations such as soft tissue or the central nervous system (CNS). The genetic drivers underlying these extracutaneous variants remain poorly ...

Report on the Academic Paper: Clonal Landscape and Clinical Outcomes of Telomere Biology Disorders: Somatic Rescue and Cancer Mutations Academic Background and Research Motivation Telomere biology disorders (TBDs) are a group of diseases caused by pathogenic germline variants (PGVs) in telomere-related genes, manifesting with multi-organ dysfunctio...

Stage-specific Chromosomal Deletions Activate the IRX3 Oncogene in T-cell Acute Lymphoblastic Leukemia In the field of cancer research, understanding regulatory mechanisms of the noncoding genome remains a key focus, especially concerning how oncogenes can be aberrantly activated through non-canonical regulatory pathways. This paper, authored by Su...

Revisited Diagnostic Guidelines for Familial Hemophagocytic Lymphohistiocytosis (FHL) Based on HLH-2004: Updates to Diagnostic Criteria and Development of Multipathway Diagnostic Strategies Introduction Familial hemophagocytic lymphohistiocytosis (FHL) is a severe hyperinflammatory disease characterized by abnormal accumulation of macrophages and l...

Whole-Genome Analysis of Plasma Fibrinogen Reveals Population-Differentiated Genetic Regulators with Potential Liver Roles Academic Background Fibrinogen is a crucial coagulation factor and acute-phase reactive protein. Under normal physiological conditions, fibrinogen is abundant in circulation, but during the acute inflammatory response, transcri...

Genetic and Pharmacological Targeting of mTORC1 in Mouse Models of Arteriovenous Malformation Expose Non-Cell Autonomous Signalling in HHT Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder caused by mutations leading to the loss of function in either Activin Receptor-Like Kinase 1 (ACVRL1) or Endoglin (ENG), which act as receptors a...

Academic Background and Problem Statement Arteriovenous Malformations (AVMs) are benign vascular anomalies prone to pain, bleeding, and progressive growth. The primary cause of AVMs is somatic mutations in the RAS-MAPK signaling pathway. However, not all patients have identifiable causative mutations. To further explore the pathogenesis of AVMs, re...

The Role of lncRNA-Mediated ceRNA Network in Penile Squamous Cell Carcinoma Academic Background Penile Squamous Cell Carcinoma (PSCC) is a relatively rare but life-threatening malignancy that poses a significant health risk to men, particularly in developing countries. Despite advancements in medical diagnosis and treatment, the overall survival ra...

Combined Single-Cell and Spatial Transcriptome Analysis Reveals Cellular Heterogeneity of the Hedgehog Pathway in Gastric Cancer Academic Background Gastric cancer (GC) is one of the most common and deadly malignancies worldwide, with high incidence and mortality rates. Despite advancements in chemotherapy, radiotherapy, and targeted therapy, the t...