Cells differentiate and progress through development guided by a dynamic chromatin
landscape that mediates gene expression programmes. During development, mammalian …

Abstract The Trithorax group (TrxG) of proteins is a large family of epigenetic regulators that
form multiprotein complexes to counteract repressive developmental gene expression …

Importance Clinical exome sequencing (CES) is rapidly becoming a common molecular
diagnostic test for individuals with rare genetic disorders. Objective To report on initial …

The KMT2 (lysine methyltransferase) family of histone modifying proteins play essential
roles in regulating developmental pathways, and mutations in the genes encoding these …

To understand how diversity is distributed in space is a fundamental aim for optimizing future
species and community conservation. We examined in parallel species richness and beta …

Methylation of histone H3 lysine 4 (H3K4me) is an intricately regulated posttranslational
modification, which is broadly associated with enhancers and promoters of actively …

We identified individuals with variations in ACTL6B, a component of the chromatin
remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic …

Wiedemann‐Steiner syndrome (WSS) is an autosomal dominant disorder caused by
monoallelic variants in KMT2A and characterized by intellectual disability and …

Regulation of gene expression is achieved by sequence-specific transcriptional regulators,
which convey the information that is contained in the sequence of DNA into RNA …

Recent cryo-EM structures show the highly dynamic nature of the MLL1-NCP (nucleosome
core particle) interaction. Functional implication and regulation of such dynamics remain …