Background and Research Objectives High-Grade Glioma (HGG) is a highly lethal primary brain tumor with a particularly high incidence and mortality rate in children and adolescents. HGG can be further divided into several subtypes, among which Diffuse Hemispheric Glioma, H3G34-mutant (DHG-H3G34), is a rare subtype with poor prognosis, mainly occurri...
Background Glioblastoma (GBM) is a highly aggressive central nervous system malignancy with very poor prognosis, typically associated with short patient survival. Although significant advancements have been made in tumor treatment technologies and strategies in recent years, traditional radiotherapy and chemotherapy still struggle to achieve satisf...
Specific Tumor Structures and Microenvironment of Breast Cancer Metastasis to the Brain: A Research Review Research Background Brain metastasis is one of the severe complications faced by breast cancer patients, leading to complex neurological complications and low survival rates, with very limited treatment options. Among the various subtypes of b...
The Role of the Novel Circular RNA circZEB1 in the Malignant Phenotype of Glioblastoma Stem Cells and Its Molecular Mechanism Research Background Glioblastoma (GBM) is one of the most aggressive and fatal primary tumors in the central nervous system, with a very poor prognosis for patients. Even with surgery, radiotherapy, and chemotherapy, the ave...
Clinical and Genetic Spectrum Study of Inherited Glycosylphosphatidylinositol Deficiency Disorders (IGDs) Background Introduction The glycosylphosphatidylinositol (GPI) anchoring pathway is crucial for post-translational modification of many important proteins in eukaryotes, which are fundamental for cell signaling and early human neurogenesis and ...
Dysfunctional spectrum associated with clinical phenotype expansion in SCN2A-related disorders This paper was written by scholars including Anne T. Berg, Christopher H. Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J. E. Kaiser, Katherine Paltell, Amanda N. Nili, Jean-Marc L. Dekeyser, Tatiana V. Abramova, Gerry Nesbitt, Shawn ...
Parkinson’s Disease Variant Detection and Disclosure: Comprehensive Report Background Parkinson’s Disease (PD) is a progressive neurodegenerative disorder primarily characterized by motor dysfunction and non-motor symptoms. Research has shown that at least seven genes (LRRK2, GBA1, PRKN, SNCA, PINK1, PARK7, VPS35) are directly related to the occurr...
Cascading Pattern in Genetic Risk Research for Alzheimer’s Disease Background and Research Motivation Alzheimer’s disease (AD) is a slowly progressing neurodegenerative disorder characterized by the accumulation of two pathological features: amyloid plaques and phosphorylated tau neurofibrillary tangles. These pathological features typically exist ...
Biallelic Variants in SNUPN Cause a Limb-Girdle Muscular Dystrophy with Myofibrillar Features Academic Background Muscular dystrophies are a complex and heterogeneous group of neuromuscular disorders characterized by progressive muscle weakness and atrophy due to loss of muscle fibers. Limb-Girdle Muscular Dystrophies (LGMD) are a subtype primarily...
A2A Adenosine Receptor Exacerbates Synaptic Loss and Memory Deficits in APP/PS1 Mice Alzheimer’s disease (AD) is a neurodegenerative disorder associated with progressive cognitive decline, characterized by the deposition of extracellular β-amyloid (Aβ) plaques and the accumulation of hyperphosphorylated tau protein in neurons. Some epidemiological ...