The RASopathies are a group of disorders caused by a germline mutation in one of the
genes encoding a component of the RAS/MAPK pathway. These disorders, including …

Research over the past three decades has firmly established lysine acetyltransferases
(KATs) as central players in regulating transcription. Recent advances in genomic …

Intellectual disability (ID) is a clinically and genetically heterogeneous common condition
that remains etiologically unresolved in the majority of cases. Although several hundred …

Zika virus (ZIKV) infection during pregnancy may be linked to fetal neurological
complications that include brain damage and microcephaly. How the viral infection relates to …

Histone modifications and more specifically ε-lysine acylations are key epigenetic regulators
that control chromatin structure and gene transcription, thereby impacting on various …

The orchestrated organization of epigenetic factors that control chromatin dynamism,
including DNA methylation, histone marks, non-coding RNAs (ncRNAs) and chromatin …

Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS or Ohdo syndrome) is a multiple
anomaly syndrome characterized by severe intellectual disability, blepharophimosis, and a …

The RASopathies are defined as a group of medical genetics syndromes that are caused by
germ-line mutations in genes that encode components or regulators of the Ras/mitogen …

Lysine residues are subject to many forms of covalent modification and one such
modification is acetylation of the ε-amino group. Initially identified on histone proteins in the …

The lysine acetyltransferase KAT6A (MOZ, MYST3) belongs to the MYST family of chromatin
regulators, facilitating histone acetylation. Dysregulation of KAT6A has been implicated in …