KDM6A facilitates Xist upregulation at the onset of X inactivation.

Background: X chromosome inactivation (XCI) is a female-specific process in which one X chromosome is silenced to balance X-linked gene expression between the sexes. XCI is initiated in early development by upregulation of the lncRNA Xist on the future inactive X (Xi). A subset of X-linked genes escape silencing and thus have higher expression in females, suggesting female-specific functions.

Extended-release amphetamine (Dyanavel XR) is associated with reduced immediate-release supplementation in adults with ADHD, regardless of baseline patient variables: a retrospective cohort analysis of medical treatment records.

Background: Adults with ADHD benefit from treatment with extended-release (ER) formulations that provide symptom control for the entire day. Some patients are advised to supplement their extended-release medication with an immediate-release (IR) medication later in the day if they need to prolong its effects. Given that several FDA-approved ER formulations are available and many individual patient variables may affect efficacy, the purpose of this study was to identify reliable predictors of the tendency for patients to supplement their daily ER medication with an IR medication.

Basic Science and Pathogenesis.

Background: Anticholinergic (AC) use remains common in older adults despite evidence of safety risks, including dementia risk. Evidence from population studies suggests that dementia risk may vary by AC class. This variation might be explained by confounding by indication.

Basic Science and Pathogenesis.

Background: Annotation of target genes of non-coding GWAS loci remains a challenge since 1) regulatory elements identified by GWAS can be metabases away from its actual target, 2) one regulatory element can target multiple genes, and 3) multiple regulatory elements can target one gene. AD GWAS in populations with different ancestries have identified different loci, suggesting ancestry-specific genetic risks. To understand the connection between associated loci (potential regulatory elements) and their target genes, we conducted Hi-C analysis in frontal cortex of African American (AA) and Non-Hispanic Whites (NHW) AD patients to map chromatin loops, which often represent enhancer-promoter (EP) interactions.