Microglia, the central nervous system innate immune cells, play a critical role in maintaining
a homeostatic environment in the brain throughout life. These cells exhibit an impressive …

Macrocephaly affects up to 5% of the pediatric population and is defined as an abnormally
large head with an occipitofrontal circumference (OFC)> 2 standard deviations (SD) above …

Dissecting the regulatory mechanisms controlling mammalian transcripts from production to
degradation requires quantitative measurements of mRNA flow across the cell. We …

Sex differences are pervasive in human health and disease. One major key to sex-biased
differences lies in the sex chromosomes. Although the functions of the X chromosome …

De novo germline mutations in the RNA helicase DDX3X account for 1%–3% of
unexplained intellectual disability (ID) cases in females and are associated with autism …

Mutations in the RNA helicase, DDX3X, are a leading cause of Intellectual Disability and
present as DDX3X syndrome, a neurodevelopmental disorder associated with cortical …

DDX3 is a DEAD-box RNA helicase that regulates translation and is encoded by the X-and
Y-linked paralogs DDX3X and DDX3Y. While DDX3X is ubiquitously expressed in human …

Summary DEAD-Box Helicase 3 X-Linked (DDX3X) is frequently mutated in the Wingless
(WNT) and Sonic hedghog (SHH) subtypes of medulloblastoma—the commonest malignant …

DEAD/H-box proteins are the largest family of RNA helicases in mammalian genomes, and
they are present in all kingdoms of life. Since their discovery in the late 1980s, DEAD/H-box …

Cerebellar hypoplasia (CH) refers to a cerebellum of reduced volume with preserved shape.
CH is associated with a broad heterogeneity in neuroradiologic features, etiologies, clinical …