Discovery of the Recessive Effect of Human Polymerase δ Proofreading Deficiency: Through Mutation Analysis of Normal Cells and Cancer Cells with POLD1 Mutations Background Introduction The disruption of DNA repair is one of the main mechanisms leading to hereditary cancer. Heterozygous pathogenic variants in the exonic regions of POLD1 and POLE aff...
Framework for Evaluation and Reporting of Incidental Findings in Clinical Genome Sequencing Research Background In current clinical practice, clinical genome sequencing (CGS) is gradually becoming an important means for diagnosing rare genetic diseases. However, incidental findings (IFs) are often encountered in genome sequencing, which are unexpec...
DNA Methylation Characteristics for Recognizing Mowat-Wilson Syndrome Background Mowat-Wilson syndrome (MOWS) is a rare neurodevelopmental disorder caused by heterozygous deletions or loss-of-function mutations in the ZEB2 gene. This gene encodes a transcription factor involved in neural development. Individuals with MOWS often present with moderat...
Brain-Derived Exosomal Circular RNAs in Plasma as Diagnostic Biomarkers for Acute Ischemic Stroke Acute ischemic stroke (AIS), commonly known as stroke, is a serious condition characterized by interrupted blood flow to the brain, resulting in tissue damage and neurological deficits. Early diagnosis is crucial for effective intervention and manageme...
Association Study of Perioperative IL8 and IL18 Levels with Brain Basal Ganglia Atrophy Three Months After Surgery Background In recent years, an increasing number of studies have shown that surgical procedures may accelerate brain atrophy. Meanwhile, the relationship between systemic inflammation and neurodegenerative diseases has also received co...
Research Report: Neutrophils Disrupt B-1a Cell Homeostasis by Targeting Siglec-G, Exacerbating Sepsis Background Sepsis is a life-threatening organ dysfunction caused by a dysregulated immune response to infection. The immune system dysfunction accompanying sepsis is primarily triggered by pathogen-associated molecular patterns (PAMPs) and damage-a...
Research Review: Treating Traumatic Brain Injury through Selective Inhibition of IL-6 Pathway Background Traumatic brain injury (TBI) is one of the leading causes of long-term neurological damage and death globally, with no effective disease-modifying treatments currently available. TBI patients often suffer from cognitive, behavioral, and sensory ...
Changes in Growth-Associated Protein 43 and Tensor-Based Morphometric Indicators in Mild Cognitive Impairment Research Background Alzheimer’s disease (AD) is a globally prevalent neurodegenerative disease whose incidence is expected to increase significantly in the coming years (Esquerda-Canals et al., 2017). The disease primarily manifests as defe...
Background Introduction In this paper, the researchers discuss the impact of aging on the functionality of all cell types in the central nervous system (CNS) and its role in neurological diseases such as multiple sclerosis (MS). However, the molecular mechanisms underlying these age-related changes and their contribution to diseases remain poorly u...
Research Report Titled “Comprehensive Evaluation of TDP-43 Neuropathology Data in the National Alzheimer’s Coordinating Center Database” Research Background TDP-43 proteinopathy is a significant neuropathological feature in frontotemporal lobar degeneration (FTLD-TDP), amyotrophic lateral sclerosis (ALS-TDP), and age-related limbic TDP-43 encephalo...