SwePub
Sök i SwePub databas

  Extended search

Träfflista för sökning "(WFRF:(Tsolaki Magda)) pers:(Bos Isabelle) srt2:(2023)"

Search: (WFRF:(Tsolaki Magda)) pers:(Bos Isabelle) > (2023)

  • Result 1-1 of 1
Sort/group result
   
EnumerationReferenceCoverFind
1.
  • Küçükali, Fahri, et al. (author)
  • Whole-exome rare-variant analysis of Alzheimer's disease and related biomarker traits
  • 2023
  • In: Alzheimer's & Dementia. - : John Wiley & Sons. - 1552-5260 .- 1552-5279. ; 19:6, s. 2317-2331
  • Journal article (peer-reviewed)abstract
    • INTRODUCTION: Despite increasing evidence of a role of rare genetic variation in the risk of Alzheimer's disease (AD), limited attention has been paid to its contribution to AD-related biomarker traits indicative of AD-relevant pathophysiological processes.METHODS: We performed whole-exome gene-based rare-variant association studies (RVASs) of 17 AD-related traits on whole-exome sequencing (WES) data generated in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery (EMIF-AD MBD) study (n = 450) and whole-genome sequencing (WGS) data from ADNI (n = 808).RESULTS: Mutation screening revealed a novel probably pathogenic mutation (PSEN1 p.Leu232Phe). Gene-based RVAS revealed the exome-wide significant contribution of rare coding variation in RBKS and OR7A10 to cognitive performance and protection against left hippocampal atrophy, respectively.DISCUSSION: The identification of these novel gene-trait associations offers new perspectives into the role of rare coding variation in the distinct pathophysiological processes culminating in AD, which may lead to identification of novel therapeutic and diagnostic targets.
  •  
Skapa referenser, mejla, bekava och länka
  • Result 1-1 of 1

Kungliga biblioteket hanterar dina personuppgifter i enlighet med EU:s dataskyddsförordning (2018), GDPR. Läs mer om hur det funkar här.
Så här hanterar KB dina uppgifter vid användning av denna tjänst.

 
pil uppåt Close

Copy and save the link in order to return to this view