30298 RESULTS
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MUTATIONS PSEN1 73678584 GRCh37 (105) rs376433615 C T Exon 10 Point, Missense Coding Unknown, but cryo-EM data suggest perturbation of γ-secretase catalytic activity. Unkonwn, but MRI revealed microbleeds in cortex, basal ganglia, and subcortical white matter ...
MUTATIONS 73673106 GRCh37 (105) G A PSEN1 Exon 9 Point, Nonsense Coding Unknown, but 3D in silico modeling predicted pronounced structural effects. Unknown, but MRI of two carriers showed white matter and subcortical lesions, and a third carrier had lesions in the ...
MUTATIONS PSEN1 73664748 GRCh37 (105) C G Exon 8 Point, Missense Coding Unknown Unknown, but CSF bimoarkers were consistent with AD in two patients and MRI revealed mild cortical and hippocampal atrophy in one patient and signs of CAA in two patients. A260G ...
RESEARCH MODELS Summary The L435F mutation in PSEN1 was found in affected individuals in a family with early onset AD (Heilig et al., 2010). This knock-in rat model carries the homologous mutation in the rat Psen1 gene and a humanized Aβ sequence within the rat App gene ...
RESEARCH MODELS Summary R47H is a rare variant in TREM2 that triples the risk of Alzheimer’s disease in heterozygous carriers. This knock-in rat model carries the R47H mutation in the rat Trem2 gene and a humanized Aβ sequence within the rat App gene (Tambini and D ...
RESEARCH MODELS Summary The A673T (“Icelandic”) mutation in APP is associated with protection against Alzheimer's disease and age-related cognitive decline. This knock-in rat model carries the Icelandic mutation and a humanized Aβ sequence within the endogenous rat ...
RESEARCH MODELS Summary The KM670/671NL (“Swedish”) double mutation in APP was linked to AD in two large Swedish pedigrees. The mutation is located immediately adjacent to the β-secretase site and results in increased β-secretase processing of APP (Cai et al., 1993; Rabe ...
RESEARCH MODELS Summary This knock-in model carries a humanized Aβ sequence within the endogenous rat App gene (Tambini et al., 2019). Levels of App mRNA in brain were similar in 21-day-old rats homozygous for the humanized App gene (App h/h) and wild-type animals (App w ...
MUTATIONS PSEN1 73664822 GRCh37 (105) G T Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and tolerable (SIFT). CADD score = 25.9. Unknown, but in one case, PiB-PET was positive, MRI revealed bilateral ...
MUTATIONS 73640411 GRCh37 (105) rs778630379 A G PSEN1 Exon 5 Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). Cryo-EM suggests structural role in PSEN1-APP interaction. CADD score = 28.3. Unknown, but in one ...
MUTATIONS PSEN1 73683869 GRCh37 (105) T C Exon 11 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerable/damaging (SIFT). CADD score = 26.9. Unknown, but in two cases, amyloid-PET was positive. MRI ...
MUTATIONS PSEN1 Chr14:73664814 GRCh37 (105) T C Exon 8 Point, Missense Coding Unknown, but in silico algorithms predicted probably damaging (Polyphen2) and not tolerated (SIFT). CADD score = 28.5 Unknown, but in one patient, MRI revealed mild, diffuse cortical ...
MUTATIONS PSEN1 73683870 GRCh37 (105) A C Exon 11 Point, Missense Coding Unknown, but predicted probably damaging by in silico algorithms Polyphen2 and SIFT. CADD score = 26.8. Unknown, but one case had Aβ accumulation (PiB-PET+), with mild, diffuse cortical ...
MUTATIONS 227071509 GRCh37 (105) AA-- PSEN2 Exon 4 Deletion Coding Frameshift starting at K82; reduced mutant protein in frontal cortex and hippocampus. Neuropathology consistent with Pick's disease. K82fs Tauopathy consistent with Pick's Disease: Unclear ...
MUTATIONS 227081706 GRCh37 (105) AG-- PSEN2 Intron 11/12 Deletion Non-Coding Coding Deletion of an adenine in intron 11/12 resulting in exon 12 skipping and a frameshift starting at codon G359; new termination codon in the 3' UTR. Unknown. G359fs (Intron 11/12 ...
