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

Turner syndrome (TS) is a condition in females missing the second sex chromosome (45, X)
or parts thereof. It is considered a rare genetic condition and is associated with a wide range …

Turner syndrome is a rare condition in women that is associated with either complete or
partial loss of one X chromosome, often in mosaic karyotypes. Turner syndrome is …

Genetic factors play a major part in intellectual disability (ID), but genetic studies have been
complicated for a long time by the extreme clinical and genetic heterogeneity. Recently …

Purpose: Implementation of novel genetic diagnostic tests is generally driven by
technological advances because they promise shorter turnaround times and/or higher …

Alzheimer's disease (AD) has complex etiologies, and the impact of sex on AD varies over
the course of disease development. The literature provides some evidence of sex-specific …

Background Kabuki syndrome (KS) is a clinically recognisable syndrome in which 70% of
patients have a pathogenic variant in KMT2D or KDM6A. Understanding the function of …

Enhancer activation is a critical step for gene activation. Here we report an epigenetic
crosstalk at enhancers between the UTX (H3K27 demethylase)-MLL4 (H3K4 …

Genes on the mammalian X chromosome are present in one copy in males and two copies
in females. The complex mechanisms that regulate the X chromosome lead to evolutionary …

A major sex difference in Alzheimer's disease (AD) is that men with the disease die earlier
than do women. In aging and preclinical AD, men also show more cognitive deficits. Here …