ABCA7 could impact AD pathogenesis through a variety of mechanisms, including regulation of APP processing and clearance of Aβ through phagocytosis. Overall, the identification of …

CRISPR/cas9 was used to generate a knock-out mutation of the Abca7 gene of double mutant mice with a humanized APOE4 gene and the p.R47H point mutation knocked into the mouse …

2018年11月30日 · The p.A1527G allele of Abca7 is a common variant (minor allele frequency 0.16 in ExAc and HEX), which imparts a slightly increased risk for AD (odds ratio …

2011年4月5日 · Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nat Genet. 2011 May;43(5):429-35. PubMed. …

2024年9月4日 · Among 85 GWAS hits, 37 were closely linked with a structural variant. Some, including ADAM10, SLC2A4RG, and CD2AP, were tied to more than one. For three …

2020年7月31日 · For TREM2, ABCA7, ATP8B4, CBX3, and PRSS3, the majority of the signal was derived from variants that were identified in multiple people, but were still very rare. The …

2024年9月19日 · They found, for example, that the A1527G variant in ABCA7 provoked expression changes in groups of genes involved in immune responses, cell cycle, myelination, …

Dib S, Pahnke J, Gosselet F.Role of ABCA7 in Human Health and in Alzheimer's Disease. Int J Mol Sci. 2021 Apr 27;22(9) PubMed.

ABCA7 haplodeficiency disturbs microglial immune responses in the mouse brain. Proc Natl Acad Sci U S A. 2019 Nov 19;116(47):23790-23796. Epub 2019 Nov 5 PubMed. Recommends. …

2015年3月26日 · Although ABCA7 is a member of the “A” subfamily of ATP-binding cassette transporters that were initially characterized by their capacity to transport lipids across …