As the discovery of the Alzheimer's disease (AD) genes, APP, PSEN1, and PSEN2, in
families with autosomal dominant early-onset AD (EOAD), gene discovery in familial EOAD …

The aggregation of specific proteins is hypothesized to underlie several degenerative
diseases, which are collectively known as amyloid disorders. However, the mechanistic …

Human apolipoprotein E (ApoE) apolipoprotein is primarily expressed in three isoforms
(ApoE2, ApoE3, and ApoE4) that differ only by two residues. ApoE4 constitutes the most …

Down syndrome (also known as trisomy 21) is the model human phenotype for all genomic
gain dosage imbalances, including microduplications. The functional genomic exploration of …

During the last quarter of the twentieth century, our knowledge about human genetic
variation was limited mainly to the heterochromatin polymorphisms, large enough to be …

Copy number variation (CNV) is a source of genetic diversity in humans. Numerous CNVs
are being identified with various genome analysis platforms, including array comparative …

Abstract In the United States, estimates indicate there are between 250,000 and 400,000
individuals with Down syndrome (DS), and nearly all will develop Alzheimer's disease (AD) …

Amyloid precursor protein (APP) is a key player in Alzheimer's disease (AD). The Aβ
fragments of APP are the major constituent of AD-associated amyloid plaques, and …

Alzheimer's disease is the most common form of dementia and the most common
neurodegenerative disease. It manifests as a decline in short-term memory and cognition …

In the search for new genes in Alzheimer's disease, classic linkage-based and candidate-
gene-based association studies have been supplanted by exome sequencing, genome …