P4-093: TOWARDS AN IMPROVED UNDERSTANDING AND ASSESSMENT OF ABCA7 RISK ON ALZHEIMER'S DISEASE
نویسندگان
چکیده
منابع مشابه
Understanding the function of ABCA7 in Alzheimer's disease.
ATP-binding cassette transporter A7 (ABCA7) is highly expressed in the brain. Recent genome-wide association studies (GWAS) identify ABCA7 single nt polymorphisms (SNPs) that increase Alzheimer's disease (AD) risk. It is now important to understand the true function of ABCA7 in the AD context. We have begun to address this using in vitro and in vivo AD models. Our initial studies showed that tr...
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ABCA7 loss-of-function variants, expression, and neurologic disease risk
OBJECTIVE To investigate and characterize putative "loss-of-function" (LOF) adenosine triphosphate-binding cassette, subfamily A member 7 (ABCA7) mutations reported to associate with Alzheimer disease (AD) risk. METHODS We genotyped 6 previously reported ABCA7 putative LOF variants in 1,465 participants with AD, 381 participants with other neuropathologies (non-AD), and 1,043 controls and ass...
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From heterogeneous patient measurements towards earlier diagnosis in Alzheimers disease
European funded project PredictAD has developed a decision support tool for objective diagnostics of Alzheimer’s disease. The tool compares measurements of a patient to measurements of other persons available in large databases and provides a simple index about the severity of the disease. The project has shown that the tool improves the accuracy of diagnosis and clinicians’ confidence about th...
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ژورنال
عنوان ژورنال: Alzheimer's & Dementia
سال: 2019
ISSN: 1552-5260
DOI: 10.1016/j.jalz.2019.06.3753