Research Background Bladder cancer is a highly prevalent malignant tumor worldwide, ranking as the fourth most common malignancy in men. According to the 2016 report by the National Cancer Center of China (NCCR), bladder cancer ranks sixth in incidence among male malignancies. Despite continuous improvements in medical diagnostic methods and surgic...

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 ...