circPTP4A2 Promotes Microglia Polarization in Cerebral Ischemic Stroke via miR-20b-5p/YTHDF1/TIMP2 Axis

Medicine, Infectious Diseases, Emergency Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology,
ischemic stroke   microglia polarization   circPTP4A2   miR-20b-5p   TIMP2  

Academic Report on the Scientific Paper “circPTP4A2 Promotes Microglial Polarization in Ischemic Stroke via the miR-20b-5p/YTHDF1/TIMP2 Axis” Background Introduction Ischemic stroke (IS) is brain tissue necrosis caused by cerebral blood flow obstruction and is the second leading cause of disability and death globally. Current clinical treatment str...

Inflammasome Activation Mediates Apoptotic and Pyroptotic Death in Astrocytes under Ischemic Conditions

Medicine, Neurology, Life Sciences, Cell Biology, Biochemistry, Immunology,
inflammasome   fibrous astrocytes   protoplasmic astrocytes   ischemic stroke   apoptosis   pyroptosis   cell death  

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...

A Missense Variant in AIFM1 Caused Mitochondrial Dysfunction and Intolerance to Riboflavin Deficiency

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Cell Biology, Biochemistry, Genetics,
AIFM1   mitochondria   riboflavin   apoptosis   ataxia   neuropathy  

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...

Limitations in Next-Generation Sequencing-Based Genotyping of Breast Cancer Polygenic Risk Score Loci

Medicine, Medical Laboratory Science, Oncology, Life Sciences, Biochemistry, Genetics,
Next-Generation Sequencing   Breast Cancer   Polygenic Risk Score   Genotyping   Variant Allele Frequencies   Genetic Counseling   Bioinformatics  

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...

Study on GABRA4 Gene Mutations and Neurological Phenotypes

Medicine, Basic Medical Sciences, Neurology, Life Sciences, Biochemistry, Genetics, Biophysics,
GABRA4   Neurological Phenotype   Developmental Delay   Behavioral Abnormalities   Epilepsy  

New Scientific Research Reveals Association Between GABRA4 Gene and Neurological Phenotypes Research Background In recent years, significant progress has been made in the study of epilepsy and developmental disorder syndromes associated with single gene mutations. GABAA receptors (gamma-aminobutyric acid sub-type A receptors, GABAARs) are heterogen...

Upstream Open Reading Frame-Introducing Variants in Patients with Primary Familial Brain Calcification

Medicine, Neurology, Life Sciences, Biochemistry, Genetics,
Primary Familial Brain Calcification   Genetic Variants   5' UTR   Protein Expression   Reporter Assay   Pathogenic Variants   Genetic Diagnosis  

Research Background and Problem Statement Primary Familial Brain Calcification (PFBC) is a rare neurological disorder characterized by microvascular calcification in the basal ganglia and other brain regions. Although at least six genes associated with PFBC have been identified (including SLC20A2, XPR1, PDGFB, PDGFRB, MYORG, and JAM2), the pathogen...