Somatic Variants in SVIL in Cerebral Aneurysms.
Journal
Neurology. Genetics
ISSN: 2376-7839
Titre abrégé: Neurol Genet
Pays: United States
ID NLM: 101671068
Informations de publication
Date de publication:
Dec 2022
Dec 2022
Historique:
received:
24
02
2022
accepted:
12
09
2022
entrez:
7
12
2022
pubmed:
8
12
2022
medline:
8
12
2022
Statut:
epublish
Résumé
While somatic mutations have been well-studied in cancer, their roles in other complex traits are much less understood. Our goal is to identify somatic variants that may contribute to the formation of saccular cerebral aneurysms. We performed whole-exome sequencing on aneurysm tissues and paired peripheral blood. RNA sequencing and the CRISPR/Cas9 system were then used to perform functional validation of our results. Somatic variants involved in supervillin ( We propose that somatic variants form a novel mechanism for the development of cerebral aneurysms. Specifically, somatic variants in
Sections du résumé
Background and Objectives
UNASSIGNED
While somatic mutations have been well-studied in cancer, their roles in other complex traits are much less understood. Our goal is to identify somatic variants that may contribute to the formation of saccular cerebral aneurysms.
Methods
UNASSIGNED
We performed whole-exome sequencing on aneurysm tissues and paired peripheral blood. RNA sequencing and the CRISPR/Cas9 system were then used to perform functional validation of our results.
Results
UNASSIGNED
Somatic variants involved in supervillin (
Discussion
UNASSIGNED
We propose that somatic variants form a novel mechanism for the development of cerebral aneurysms. Specifically, somatic variants in
Identifiants
pubmed: 36475054
doi: 10.1212/NXG.0000000000200040
pii: NXG-2022-200043
pmc: PMC9720733
doi:
Types de publication
Journal Article
Langues
eng
Pagination
e200040Subventions
Organisme : NINDS NIH HHS
ID : R01 NS105675
Pays : United States
Informations de copyright
Copyright © 2022 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.
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