Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8058307 | PMC |
| http://dx.doi.org/10.1161/CIRCGEN.120.003310 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
KDM6A facilitates Xist upregulation at the onset of X inactivation.
Biol Sex Differ
January 2025
Department of Laboratory Medicine and Pathology, School of Medicine, University of Washington, Seattle, WA, 98195, USA.
Background: X chromosome inactivation (XCI) is a female-specific process in which one X chromosome is silenced to balance X-linked gene expression between the sexes. XCI is initiated in early development by upregulation of the lncRNA Xist on the future inactive X (Xi). A subset of X-linked genes escape silencing and thus have higher expression in females, suggesting female-specific functions.
View Article and Find Full Text PDFVacuolar protein sorting 13 homolog C was associated with motor progression in Parkinson's disease.
Parkinsonism Relat Disord
December 2024
Department of Neurology and Institute of Neurology, Shanghai Jiao Tong University Medical School Affiliated Ruijin Hospital, Shanghai, China. Electronic address:
Introduction: The SNP rs2414739 of Vacuolar protein sorting 13 homolog C(VPS13C) gene was identified to be linked with Parkinson's Disease (PD).
Objectives: Explore the clinical progression feature of PD patients with rs2414739 variant.
Methods: Longitudinal data were obtained from the Parkinson's Progression Marker Initiative (PPMI) cohorts.
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Washington University School of Medicine, Saint Louis, MO, USA.
Background: A recent case report described an individual who was a homozygous carrier of the APOE3 Christchurch (APOE3ch) mutation and resistant to autosomal dominant Alzheimer's Disease (AD) caused by a PSEN1-E280A mutation. Whether APOE3ch contributed to the protective effect remains unclear.
Method: We generated a humanized APOE3ch knock-in mouse and crossed it to an amyloid-β (Aβ) plaque-depositing model.
Basic Science and Pathogenesis.
Alzheimers Dement
December 2024
Department of Cell Biology and Pathology, New York, NY, USA.
Background: Possession of the APOE4 allele is the strongest genetic risk factor for developing the sporadic form of Alzheimer's disease (AD). Studies investigating APOE4's associated AD risk have largely centered on APOE4's propensity to regulate the deposition of extracellular amyloid beta plaques. More recent attempts to characterize APOE4's role in AD have brought into question the role APOE4 may possess in modulating the pathogenesis of intracellular tau tangles.
View Article and Find Full Text PDFBasic Science and Pathogenesis.
Alzheimers Dement
December 2024
University of California, Irvine, Irvine, CA, USA.
Article Synopsis
- Researchers have identified genetic polymorphisms of ABI3 as a risk factor for late-onset Alzheimer's Disease (LOAD), but the role of ABI3 in microglia is not well understood.
- Using CRISPR/Cas9, a specific risk variant (S212F) was introduced into mouse models to study its effects on AD-related pathologies alongside 5xFAD mice over time.
- Results showed that the 5xFAD/Abi3 mice exhibited a decrease in amyloid beta plaque burden and a significant reduction in microglia numbers with age, suggesting ABI3 may influence both plaque formation and microglial response in AD pathology.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!