Publications by authors named "Leroy M Bondhus"
Article Synopsis
- - Arboleda-Tham Syndrome (ARTHS) is a rare genetic disorder linked to mutations in the KAT6A gene, resulting in symptoms like intellectual disability, developmental delays, and hypotonia, affecting multiple organs.
- - The study analyzed dermal fibroblasts from ARTHS patients and controls, revealing that about 23% of genes showed different chromatin accessibility and expression, particularly in genes from the HOXC gene cluster, which are vital for early developmental processes.
- - Additionally, researchers discovered two new disrupted histone modifications (H2A and H3K56 acetylation) in ARTHS, highlighting the complex regulatory roles of KAT6A on gene expression and epigenomic changes
