Articles with "protective variant" as a keyword



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The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion

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Published in 2019 at "Acta Neuropathologica"

DOI: 10.1007/s00401-019-02066-0

Abstract: Apart from amyloid β deposition and tau neurofibrillary tangles, Alzheimer's disease (AD) is a neurodegenerative disorder characterized by neuronal loss and astrocytosis in the cerebral cortex. The goal of this study is to investigate genetic… read more here.

Keywords: protective variant; variant rs1990621; tmem106b; neuronal proportion ... See more keywords
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Identification of candidate protective variants for common diseases and evaluation of their protective potential

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Published in 2017 at "BMC Genomics"

DOI: 10.1186/s12864-017-3964-3

Abstract: BackgroundHuman polymorphisms with derived alleles that are protective against disease may provide powerful translational opportunities. Here we report a method to identify such candidate polymorphisms and apply it to common non-synonymous SNPs (nsSNPs) associated with… read more here.

Keywords: protective variant; protective variants; common diseases; disease ... See more keywords