30283 RESULTS
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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. ...
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 ...
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, “E2F,” the coding region of the mouse Apoe gene ...
MUTATIONS PSEN2 227076736 GRCh37 (105) rs14443227784 C T Exon 7 Point, Missense Coding Predicted not pathogenic in silico. Unknown A258V Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This variant was found in a Japanese individual ...
MUTATIONS PSEN2 227083195 GRCh37 (105) rs756609078 C T Exon 12 Point, Missense Coding Predicted to be pathogenic in silico (SIFT, PolyPhen2, Pmut). Unknown T421M Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a screen of ...
MUTATIONS PSEN2 227073303 GRCh37 (105) A G Exon 5 Point, Missense Coding Unknown, but 3 algorithms predict damaging with a PHRED CADD score of 24.9. Unknown N141D Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a Han Chinese ...
MUTATIONS APP 27269944 GRCh37 (105) rs1259157720 G C Exon 16 Point, Missense Coding Unknown. Predicted benign by PolyPhen-2 and SIFT; neutral by PROVEAN. Unknown, although MRI showed pronounced cerebral atrophy that included the hippocampus. V669L (Seoul) ...
MUTATIONS PSEN2 227078976 GRCh37 (105) rs1230394996 C T Intron 9/12 Point Non-Coding Unknown. PHRED CADD score of 9.977. Unknown Intron 9/12 C>T Alzheimer's Disease: Unclear PathogenicityAlzheimer's Disease This splice-site mutation was found in a Han ...
MUTATIONS PSEN2 227081771 GRCh37 (105) C A Exon 11 Point, Missense Coding Unknown, but predicted damaging in silico. PHREDD CADD score = 27.1 Unknown A379D Alzheimer's Disease: PathogenicAlzheimer's Disease This mutation was found in a Han Chinese ...
RESEARCH MODELS Summary The Thy1-αSyn mouse model, a.k.a. Line 61, overexpresses human α-synuclein under the Thy1 promoter (Rockenstein et al., 2002). It is one of the most extensively characterized animal models of Parkinson’s disease (PD), and reproduces several ...
RESEARCH MODELS Summary In an effort to mimic the genetic diversity seen in human populations, scientists have crossed popular transgenic mouse models of Alzheimer’s disease with mice of various genetic backgrounds (see 28 Dec 2018 news; 21 Jun 2019 news). PWK.APP/PS1 ...
