Publications by authors named "Sarah J Spendlove"
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
Congenital heart disease (CHD) is a rare structural defect that occurs in ∼1% of live births. Studies on CHD genetic architecture have identified pathogenic single-gene mutations in less than 30% of cases. Single-gene mutations often show incomplete penetrance and variable expressivity.
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