Brain Glioblastoma PDGFRA, KIT and KDR Gene Amplification: Heterogeneity and Its Clinical Significance Academic Background Glioblastoma (GBM) is the most common malignant tumor of the central nervous system, with its heterogeneity posing significant challenges in treatment. GBM exhibits cellular genetic and phenotypic diversity not only between dif...
Inflammasome Activation Regulates Apoptosis and Pyroptosis in Astrocytes under Ischemic Conditions Introduction Ischemic stroke is one of the main mechanisms leading to brain damage, characterized by hypoxia and energy deprivation in local brain regions due to interrupted blood flow. In recent years, research has found that inflammatory responses p...
Missense Mutation in AIFM1 Gene Leads to Mitochondrial Dysfunction and Riboflavin Deficiency Intolerance Research Background Mitochondria are double-membrane organelles found in eukaryotic cells with nuclei, primarily producing adenosine triphosphate (ATP) through oxidative phosphorylation to provide cellular energy. Mitochondria have their own gen...
Application of Quality Assurance in Future Advanced Sequencing Diagnostics Background Over the past decade, Next-Generation Sequencing (NGS) has made revolutionary progress in the diagnosis of Rare Neurological Diseases (RNDs). However, the lack of technical, interpretative, and reporting standards has posed challenges in ensuring consistent and hi...
Limitations of Next-Generation Sequencing-Based Genotyping for Breast Cancer Polygenic Risk Score Loci Background Introduction In the prediction of hereditary Breast Cancer (BC), Polygenic Risk Scores (PRSs) are increasingly being used as an important tool for individual risk prediction. The calculation of PRS relies on accurately reproducing varia...
Improving the Interpretation of PAX6 Gene Missense Variants Through Computational Methods Background The PAX6 gene is a highly conserved transcription factor that plays a crucial role in eye development. Heterozygous loss-of-function variants in PAX6 can lead to a range of ophthalmic disorders, including aniridia. However, many PAX6 gene missense v...
Structural Variant Detection and Clinical Interpretation in 6224 Unsolved Rare Disease Exomes Research Background The diagnosis and study of rare diseases have been significant challenges in genetics and clinical medicine. Structural variants (SVs), including large deletions, duplications, inversions, translocations, and more complex events, can di...
Dutch Pharmacogenetics Working Group Guideline for CYP2C9, HLA-A and HLA-B Gene-Drug Interactions with Antiepileptic Drugs Background Pharmacogenetics (PGx) studies how genetic variations affect individual drug responses, aiming to guide drug selection and dosing, optimize drug therapy, prevent adverse drug reactions, and achieve safer and more cos...
POT1 Tumor Susceptibility Research: A Broader Spectrum of Related Malignancies and Recommendations for Additional Screening Plans Research Background POT1 (Protection of Telomeres Protein 1) is an important component of the Shelterin telomere-binding complex, responsible for regulating telomere length. Some pathogenic variants (PVs) of the POT1 gen...
Phenotypic Correlation Study of RAF1:c.770C>T p.(Ser257Leu) Variant in Noonan Syndrome Patients Academic Background Noonan syndrome (NS) is one of the most common RASopathies, primarily caused by the upregulation of RAS protein and mitogen-activated protein kinase (MAPK) signaling pathways. These disorders are characterized by facial dysmorphism, c...