30292 RESULTS
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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 ...
MUTATIONS 227081706 GRCh37 (105) A- 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. Reduced PSEN2 levels due to ...
RESEARCH MODELS Summary This is the second of two similar models designed to mimic BACE1 inhibition, in which researchers can control the timing of BACE1 deficiency. These conditional knockouts avoid the developmental effects of BACE1 deficiency that are seen in germline ...
MUTATIONS MAPT 44101377 GRCh37 (105) GGGCGGAGATCG- Exon 13 Deletion Coding Unknown. Severe atrophy of the frontal and temporal lobes, hippocampus, and amygdala. Neurofibrillary tangles, neuropil threads, Pick bodies, and astrocytic inclusions, composed of 3R-tau. ...
MUTATIONS MAPT 44073963 GRCh37 (105) A T Exon 9 Point, Missense Coding Unknown. Widespread atrophy, particularly severe in the temporal and frontal lobes, the caudate nucleus, the hippocampus, and the amygdala. Neurofibrillary tangles, pretangles, neuropil threads, ...
RESEARCH MODELS Summary Pure Alzheimer’s disease—in which brains contain only the pathological hallmarks of AD, amyloid plaques and neurofibrillary tangles—is rare: In one recent study of nearly 900 autopsy samples with AD pathology, approximately 85 percent also ...
MUTATIONS PSEN1 73653605 GRCh37 (105) TTC--- Exon 6 Deletion Coding Increased Aβ42 and Aβ39; decreased Aβ40 in cultured cells. Unknown, but MRI and FDG-PET observations, as well as CSF biomarkers, were consistent with AD. F175del Alzheimer's Disease: ...
RESEARCH MODELS Summary This knock-in mouse belongs to a set of models designed to allow investigators to compare the effects of the various human APOE isoforms and to conditionally disrupt APOE expression. In this version, “E4F,” the coding region of the mouse Apoe gene ...
RESEARCH MODELS Summary This knock-in mouse belongs to a set of models designed to allow investigators to compare the effects of the various human APOE isoforms and to conditionally disrupt APOE expression. In this version, “E3F,” the coding region of the mouse Apoe gene ...
