Histone demethylation is a key post-translational modification of chromatin, and its
dysregulation affects a wide array of nuclear activities including the maintenance of genome …

Traditional screening methods of enzyme engineering often require building large mutant
libraries to screen for potentially beneficial sites, which are often time-consuming and labor …

Female somatic X-chromosome inactivation (XCI) balances the X-linked transcriptional
dosages between the sexes, randomly silencing the maternal or paternal X chromosome in …

The histone demethylase KDM6A has recently elicited significant attention because its
mutations are associated with a rare congenital disorder (Kabuki syndrome) and various …

Introduction: Kleefstra Syndrome type 2 (KLEFS-2) is a genetic, neurodevelopmental
disorder characterized by intellectual disability, infantile hypotonia, severe expressive …

(1) Background: Mutations in NFκB1, a transcriptional regulator of immunomodulating
proteins, are a known cause of inborn errors of immunity. Our proband is a 22-year-old male …

Pitt–Hopkins syndrome is an underdiagnosed neurodevelopmental disorder which is
characterized by specific facial features, early-onset developmental delay, and moderate to …

KDM6A is the disease causative gene of type 2 Kabuki Syndrome, a rare multisystem
disease; it is also a known cancer driver gene, with multiple somatic mutations found in a …

BACKGROUND Kabuki syndrome (KS) is a rare syndrome characterized by multisystem
congenital anomalies and developmental disorder. KMT2D and KDM6A mutations were …

Kabuki syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial
features, skeletal abnormalities, and intellectual disability. KMT2D and KDM6A were …