Multi-modal investigation reveals pathogenic features of diverse DDX3X missense mutations.

De novo mutations in the RNA binding protein DDX3X cause neurodevelopmental disorders including DDX3X syndrome and autism spectrum disorder. Amongst ~200 mutations identified to date, half are missense. While DDX3X loss of function is known to impair neural cell fate, how the landscape of missense mutations impacts neurodevelopment is almost entirely unknown.

What substance use services are advertised by local governments? An analysis of data from county websites in New York state.

Objective: To assess the substance use disorder (SUD) prevention and response activities that county governments in New York advertise.

Study Design: Cross-sectional study.

Methods: We coded websites of county public health, mental health, emergency, and social service departments to identify whether any government agency provided information about ten evidence-based SUD services.

Self-maintenance of zonal hepatocytes during adult homeostasis and their complex plasticity upon distinct liver injuries.

Hepatocytes are organized into distinct zonal subsets across the liver lobule, yet their contributions to liver homeostasis and regeneration remain controversial. Here, we developed multiple genetic lineage-tracing mouse models to systematically address this. We found that the liver lobule can be divided into two major zonal and molecular hepatocyte populations marked by Cyp2e1 or Gls2.

Lipid-lowering drug and complement factor H genotyping-personalized treatment strategy for age-related macular degeneration.

We investigated whether the effect of lipid-lowering drugs (LLDs) on age-related macular degeneration (AMD) differs according to the main complement genetic variants in Singapore Epidemiology of Eye Diseases (SEED) ( = 5,579) and UK Biobank studies ( = 445,727). The effect of LLD was determined for each stratum of 20 complement genetic variants. In SEED, 484 individuals developed AMD and 216 showed progression over 6 years.