SEARCH RESULTS

30262 RESULTS

PSEN2 G359fs (Intron 11/12 delAG)

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 ...

PSEN2 G359fs (Intron 11/12 delA)

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 ...

Bace1 conditional knockout (Tesco)

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 ...

MAPT G389_I392del

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. ...

MAPT D252V

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, ...

SHRSP/FAD

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 ...

PSEN1 F175del

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: ...

APOE4 Knock-In, floxed (CureAlz)

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 ...

APOE3 Knock-In, floxed (CureAlz)

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 ...

APOE2 Knock-In, floxed (CureAlz)

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 ...

PSEN2 A258V

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 ...

PSEN2 T421M

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 ...

PSEN2 N141D

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 ...

APP V669L (Seoul)

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) ...

PSEN2 Intron 9/12 C> T

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 ...

Current Filters

  • TYPE: Antibody x
  • TYPE: Research Models x
  • TYPE: Protocol x
  • TYPE: Alzpedia x
  • TYPE: Mutations x
  • TYPE: Biomarker Meta Analysis x
  • TYPE: Therapeutics x
  • Date Range : All x

Remove all filters

Filter By

DATE RANGE
TYPE
DATABASE