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TREM2 rs7759295

MUTATIONS 41135850 GRCh37 (105) rs7759295 G C TREM2 rs7759295 Upstream Point Non-Coding Unknown. This variant was associated with a higher burden of neurofibrillary tangles in subjects from three prospective cohort studies, but not with amyloid plaques, amyloid ...

TREM2 c.391+1G> A

MUTATIONS 41129000 GRCh37 (105) G A TREM2 c.391+1G> A Intron 2 Point Non-Coding In heterologous expression systems, this variant was found to cause abnormal splicing (i.e., retention of intron 2). Although TREM2 protein levels were not assayed in these in vitro ...

5xFAD (C57BL6)

RESEARCH MODELS Summary 5xFAD mice express human APP and PSEN1 transgenes with a total of five AD-linked mutations: the Swedish (K670N/M671L), Florida (I716V), and London (V717I) mutations in APP, and the M146L and L286V mutations in PSEN1. 5xFAD mice were originally ...

PSEN1 K311R

MUTATIONS PSEN1 73673157 GRCh37 (105) rs115865530 A G Exon 9 Point, Missense Coding Increased Aβ42 and reduced Aβ40 levels in conditioned media of cultured cells, resulting in increased Aβ42:Aβ40. Also increased phosphorylated tau levels in cell lysates. Unknown ...

Bace1 conditional knock-out (neonatal, forebrain) (Vassar)

RESEARCH MODELS Summary In these conditional knock-out mice, Bace1 expression is eliminated in forebrain excitatory neurons beginning during the first postnatal week. These mice were generated by crossing mice with a floxed Bace1 gene to mice carrying a transgene ...

Bace1 conditional knock-out (adult, whole body) (Vassar)

RESEARCH MODELS Summary These transgenic mice were designed to mimic BACE1 inhibition, while avoiding the developmental effects of Bace1 deficiency that are seen in germline knock-outs. They were generated by crossing mice with a floxed Bace1 gene to mice carrying a ...

AAV-AD

RESEARCH MODELS Summary Adeno-associated viral (AAV) vectors separately encoding human APP with the Swedish and London mutations and human PSEN1 with the M146L mutation were injected bilaterally into the hippocampi of young adult (8-week-old) rats. AAV-AD rats develop ...

PSEN1 L250F

MUTATIONS PSEN1 73659553 GRCh37 (105) G T Exon 7 Point, Missense Coding Unknown Unknown, but CT scans showed frontal, parietal, and temporal atrophy L250F Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a large North American ...

PSEN1 869-2A> G

MUTATIONS PSEN1 73673092 GRCh37 (105) A G Intron 8/11 Point Non-Coding Reduced Aβ42 in CSF of one individual, predicted pathogenic by CADD and DANN in silico analyses. Unknown 869-2A>G Behavioral variant FTD: PathogenicBehavioral variant FTD This substitution ...

PSEN1 G417S

MUTATIONS PSEN1 73685842 GRCh37 (105) G A Exon 12 Point, Missense Coding Unknown Cotton wool plaques throughout cortex, abundant Aβ deposits in cerebellum and spinal gray matter (one patient). Also, CAA, extensive neuronal loss, astrocytic and microglial markers, ...

PSEN1 T291A

MUTATIONS PSEN1 73673096 GRCh37 (105) A G Exon 9 Point, Missense Coding Unknown, but in silico analyses predicted it to be possibly damaging (PoyPhen) and neutral (Provean).  Unknown, patient with 2 PSEN1 mutations (A434T, T291A) had AD pathology with cotton wool ...

PSEN1 S132A

MUTATIONS PSEN1 73640329 GRCh37 (105) rs200937800 T G Exon 5 Point, Missense Coding Unknown, but in silico algorithms predict the mutation to be probably damaging by Polyphen and “neutral” by Provean. Site is conserved between PSENs. Neuropathology consistent with ...

PSEN1 Q222P

MUTATIONS PSEN1 73659468 GRCh37 (105) A C Exon 7 Point, Missense Coding Unknown, but predicted to be probably damaging by Polyphen and deleterious by Provean. Conserved between species and PSENs; other pathogenic mutations at this site. Unknown Q222P Alzheimer' ...

PSEN1 V391G

MUTATIONS 73683876 GRCh37 (105) T G PSEN1 Exon 11 Point, Missense Coding Unknown, probable damaging as predicted by SIFT, Poly-Phen-2, and Mutation Taster. Phenotype complicated by family history of extrapyramidal disease with several associated recessive mutations ...

PSEN1 S170P

MUTATIONS PSEN1 73653588 GRCh37 (105) rs63750577 T C Exon 6 Point, Missense Coding Predicted damaging by Poly-Phen-2 and Mutation Taster In AD case, typical AD tau pathology was reported. In parkinsonism case, MRI revealed hypointensity in the putamen, globus ...

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  • Date Range : Feb 2019 to Feb 2020 x

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