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Title:

De novo variants in GATAD2A in individuals with a neurodevelopmental disorder: GATAD2A-related neurodevelopmental disorder.

Document type:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Author(s):
Werren, Elizabeth A; Guxholli, Alba; Jones, Natasha; Wagner, Matias; Hannibal, Iris; Granadillo, Jorge L; Tyndall, Amanda V; Moccia, Amanda; Kuehl, Ryan; Levandoski, Kristin M; Day-Salvatore, Debra L; Wheeler, Marsha; Chong, Jessica X; Bamshad, Michael J; Innes, A Micheil; Pierson, Tyler Mark; Mackay, Joel P; Bielas, Stephanie L; Martin, Donna M
Abstract:
GATA zinc finger domain containing 2A (GATAD2A) is a subunit of the nucleosome remodeling and deacetylase (NuRD) complex. NuRD is known to regulate gene expression during neural development and other processes. The NuRD complex modulates chromatin status through histone deacetylation and ATP-dependent chromatin remodeling activities. Several neurodevelopmental disorders (NDDs) have been previously linked to variants in other components of NuRD's chromatin remodeling subcomplex (NuRDopathies). We...     »
Journal title abbreviation:
HGG Adv
Year:
2023
Journal volume:
4
Journal issue:
3
Fulltext / DOI:
doi:10.1016/j.xhgg.2023.100198
Pubmed ID:
http://view.ncbi.nlm.nih.gov/pubmed/37181331
TUM Institution:
Institut für Humangenetik (Prof. Winkelmann)
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