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Title:

A rare loss-of-function variant of ADAM17 is associated with late-onset familial Alzheimer disease.

Document type:
Journal Article; Article
Author(s):
Hartl, Daniela; May, Patrick; Gu, Wei; Mayhaus, Manuel; Pichler, Sabrina; Spaniol, Christian; Glaab, Enrico; Bobbili, Dheeraj Reddy; Antony, Paul; Koegelsberger, Sandra; Kurz, Alexander; Grimmer, Timo; Morgan, Kevin; Vardarajan, Badri N; Reitz, Christiane; Hardy, John; Bras, Jose; Guerreiro, Rita; Balling, Rudi; Schneider, Jochen G; Riemenschneider, Matthias
Abstract:
Common variants of about 20 genes contributing to AD risk have so far been identified through genome-wide association studies (GWAS). However, there is still a large proportion of heritability that might be explained by rare but functionally important variants. One of the so far identified genes with rare AD causing variants is ADAM10. Using whole-genome sequencing we now identified a single rare nonsynonymous variant (SNV) rs142946965 [p.R215I] in ADAM17 co-segregating with an autosomal-dominan...     »
Journal title abbreviation:
Mol Psychiatry
Year:
2020
Journal volume:
25
Journal issue:
3
Pages contribution:
629-639
Language:
eng
Fulltext / DOI:
doi:10.1038/s41380-018-0091-8
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/29988083
Print-ISSN:
1359-4184
TUM Institution:
Klinik und Poliklinik für Psychiatrie und Psychotherapie
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