482 RESULTS
MUTATIONS PSEN1 73653588_73653590 GRCh37/hg19 TCT--- 73186880_73186882 GRCh38/hg38 TCT--- Exon 6 Coding Unknown, although a variant resulting in S170 deletion (DNA change unknown) resulted in an increased Aβ42/Aβ40 ratio and a decreased Aβ37/42 ratio in cells. Unkn
, Peru
University of Pennsylvania, United States
PAPER Krogsaeter EK, McKetney J, Valiente-Banuet L, Marquez A, Willis A, Cakir Z, Stevenson E, Jang GM, Rao A, Li E, Zhou A, Attili A, Chang TS, Kampmann M, Huang Y, Krogan NJ, Swaney DL
MUTATIONS PSEN2 227073241 GRCh37/hg19 T G 226885540 GRCh38/hg38 T G Exon 6 Coding Increased Aβ42 levels moderately without a significant change in the Aβ42/Aβ40 ratio. Unknown. I120S Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informat
MUTATIONS PSEN1 73685906 GRCh37/hg19 C G 73219198 GRCh38/hg38 C G Exon 12 Coding Increased the Aβ42/Aβ40 ratio due to reduced Aβ40 production in cells. Unknown. S438C Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on carriers
MUTATIONS PSEN1 73685899 GRCh37/hg19 C G 73219191 GRCh38/hg38 C G Exon 12 Coding Increased the Aβ42/Aβ40 ratio due to reduced Aβ40 production in cells. Unknown. P436A Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed information on carriers
MUTATIONS PSEN1 73683867 GRCh37/hg19 T A 73217159 GRCh38/hg38 T A Exon 11 Coding Increased the Aβ42/Aβ40 ratio, but both Aβ42 and Aβ40 levels were decreased in cells. Unknown. F388Y Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informati
MUTATIONS PSEN1 73683859 GRCh37/hg19 T G 73217151 GRCh38/hg38 T G Exon 11 Coding Increased the Aβ42/Aβ40 ratio, but both Aβ42 and Aβ40 levels were decreased in cells. Unknown. D385E Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informati
Brazil
MUTATIONS PSEN1 73664786 GRCh37/hg19 G A 73198078 GRCh38/hg38 G A EXON 8 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 33). Unknown. E273K Alzheimer's Disease: Not ClassifiedAlzheimer's Disease GAA E AAA K 273
MUTATIONS PSEN1 73664751 GRCh37/hg19 rs199723282 T C 73198043 GRCh38/hg38 T C Exon 8 Coding Unknown, but predicted deleterious in silico (PHRED-scaled CADD score = 25.9). Unknown. V261A Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed infor
MUTATIONS PSEN1 73659528 GRCh37/hg19 C A 73192820 GRCh38/hg38 C A Exon 7 Coding Increased the Aβ42/Aβ40 ratio, but both Aβ42 and Aβ40 levels were decreased in cells. Unknown. P242H Alzheimer's Disease: Not ClassifiedAlzheimer's Disease Detailed informatio
COMMENT This paper by Chen and colleagues provides new insight into the delicate balance between immune cells and the brain, particularly at the barriers that serve as physiological interfaces between these two systems. Specifically, the authors focus on how the
