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Titel:

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

Dokumenttyp:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Autor(en):
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...     »
Zeitschriftentitel:
HGG Adv
Jahr:
2023
Band / Volume:
4
Heft / Issue:
3
Volltext / DOI:
doi:10.1016/j.xhgg.2023.100198
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/37181331
TUM Einrichtung:
Institut für Humangenetik (Prof. Winkelmann)
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