The Role of p39 in Cerebral Ischemic Injury Background Introduction Stroke is an extremely serious public health problem, with current research mainly focusing on injury mechanisms and new target identification. p39, as an activator of CDK5 (Cyclin-dependent kinase 5), plays a crucial role in various diseases. This article mainly investigates the r...
Study on the Protective Effect of ERP57 on ALS-related Mutant TDP-43 in Neuronal Cells Introduction Amyotrophic Lateral Sclerosis (ALS) is a severe neurodegenerative disease affecting motor neurons. Almost all ALS cases (97%) and about 50% of frontotemporal dementia (FTD) cases show a pathological form of Tar-DNA binding protein-43 (TDP-43), indica...
Association of NID2 gene single nucleotide polymorphisms with glioma risk and prognosis in Chinese Han population Academic Background Glioma is the most common primary intracranial tumor, characterized by high mortality and poor prognosis. Despite some progress in diagnostic and treatment strategies, conventional therapies have limited improvement ...
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 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...
Potential Association between Somatic CAG Repeat Instability in HTT Intermediate Alleles and Clinical Phenotype Research Background Huntington’s disease (HD) is a neurodegenerative disorder caused by the expansion of CAG trinucleotide repeats (≥36 CAG repeats) in the HTT gene. Intermediate alleles (IAs) with 27-35 CAG repeats are generally not cons...
Unique Yin Yang Haplotypes Widely Present in the Human Genome Research Background In genomic studies, yin yang haplotypes refer to pairs of haplotypes that differ at every site. While previous independent reports have indicated the existence of unique yin yang haplotypes, no systematic search had been conducted. Therefore, to better understand the ...
Based on the research of Helsmoortel-Van der Aa syndrome (HVDAS) caused by ADNP gene mutations, D’Incal et al. published an in-depth research paper in the European Journal of Human Genetics. Through a case study of a five-year-old girl, the team discovered a three-base pair deletion at the splice acceptor site of the first coding exon of ADNP. This...
Genetic Diversity in Hereditary Hearing Loss: The Potential Role of KINOCILIARY Protein TOGARAM2 Background Hearing Loss (HL) is a feature with multiple causes, and currently, research has identified pathogenic variants in over 200 genes associated with HL. Despite extensive research, the causative factor remains unidentified in more than one-third...