With the advancement of neuroscience research, the crucial role of N-methyl-D-aspartate receptors (NMDA receptors, NMDAR) in neurotransmission and cognitive functions has become increasingly clear. NMDARs are a type of ionotropic glutamate receptor that play an important role in neuronal synapses, responsible for rapid excitatory transmission and s...
Antisense Oligonucleotide Enhances SLC20A2 Expression and Inhibits Brain Calcification in Humanized Mouse Models Background and Research Questions Primary Familial Brain Calcification (PFBC) is an age-related neurogenetic disorder, characterized by bilateral calcifications in brain regions such as the basal ganglia, thalamus, and cerebellum. PFBC p...
Study on the Effect of Glucose Regulation on Hepatic Mitochondrial Oxidation and Pyruvate Carboxylase Flux in Patients with Fatty Liver Disease Research Background and Significance Metabolic-dysfunction-associated Steatotic Liver Disease (MASLD) has become one of the major challenges in global health in the 21st century. This condition is often acc...
The Role of Protein-Coupled Receptor GPR56 and Its Protective Mechanism in Ferroptosis-Induced Liver Injury In recent years, ferroptosis has emerged as a new form of programmed cell death, becoming a hot topic in scientific research. It is characterized by cell death due to phospholipid peroxidation and is significantly different from traditional a...
Influence of Dietary Timing on Circadian Rhythms of Gut Microbiota and Rheumatoid Arthritis Inflammation Background Introduction Rheumatoid Arthritis (RA) is a chronic autoimmune disease characterized by systemic inflammation and progressive joint destruction, severely affecting the quality of life of patients. The inflammation and symptoms of RA p...
Fusobacterium nucleatum Promotes Anti-PD-1 Therapy in Microsatellite-Stable Colorectal Cancer Background Introduction With the rise of immune checkpoint blockade (ICB) therapy, a new dawn has emerged in cancer treatment. However, despite the approval of PD-1 targeting drugs (e.g., Pembrolizumab) for certain types of colorectal cancer (CRC) patients...
Clinical Outcomes and Biological Characteristics Study Report for Pancreatic Cancer Patients with KRAS Mutations Research Background and Objective Pancreatic Ductal Adenocarcinoma (PDAC) is predicted to become the second leading cause of cancer death by 2030. Only about 20% of PDAC patients are eligible for resection surgery, thus the five-year sur...
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 ...
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...