Condition: Alzheimer Disease, Early Onset
rs429358 in
APOE gene and
Alzheimer Disease, Early Onset
PMID 10799751 2000 Dominant negative effects of apolipoprotein E4 revealed in transgenic models of neurodegenerative disease.
PMID 22381401 2012 Association between apolipoprotein E gene polymorphism and the risk of vascular dementia: a meta-analysis.
PMID 23060451 2012 APOE4-specific changes in Aβ accumulation in a new transgenic mouse model of Alzheimer disease.
PMID 9343467 1997 Effects of age, sex, and ethnicity on the association between apolipoprotein E genotype and Alzheimer disease. A meta-analysis. APOE and Alzheimer Disease Meta Analysis Consortium.
PMID 19605830 2009 Longitudinal modeling of age-related memory decline and the APOE epsilon4 effect.
PMID 23296339 2013 Apolipoprotein E and Alzheimer disease: risk, mechanisms and therapy.
PMID 23571587 2013 Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans.
PMID 27260402 2016 Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.
rs63750066 in
APP gene and
Alzheimer Disease, Early Onset
PMID 28350801 2017 APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
PMID 23224319 2013 Distinct patterns of APP processing in the CNS in autosomal-dominant and sporadic Alzheimer disease.
PMID 25948718 2015 Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family.
PMID 19363265 2009 AbetaPP A713T mutation in late onset Alzheimer's disease with cerebrovascular lesions.
PMID 30279455 2018 Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
PMID 15488330 2004 Familial Alzheimer disease associated with A713T mutation in APP.
PMID 15365148 2004 A family with Alzheimer disease and strokes associated with A713T mutation of the APP gene.
PMID 26402770 2015 Modeling the Aggregation Propensity and Toxicity of Amyloid-β Variants.
PMID 26803359 2016 Four samples were shown to be heterozygous for 1 of 3 known causative mutations: p.A713T, p.V717I, and p.V717G; this highlights the importance of screening EOAD patients for causative mutations.
PMID 1303275 1992 More missense in amyloid gene.