Pediatric investigation’s study reveals Cornelia de Lange syndrome characteristics in the Chinese population
Peer-Reviewed Publication
Updates every hour. Last Updated: 22-Sep-2025 03:11 ET (22-Sep-2025 07:11 GMT/UTC)
Cornelia de Lange syndrome (CdLS) is a developmental genetic disorder. The characteristics of CdLS remain unexplored in the Chinese population. Now, a group of researchers from the National Center for Children’s Health, China, have examined the clinical presentations, mutational profiles, and hormonal therapy responses of Chinese children with CdLS. Mutations in three genes, correlation between mutations in a development-related gene and clinical presentations, and differential responses to hormone therapy were identified in Chinese patients.
The maturation process of oocytes remains paused for several years. Researchers from Konstanz and Göttingen have now found out which protein ensures this state is maintained over such a long period.
Warwick primatologists, in collaboration with the Max Planck Institute, have shown that young orangutans develop their nighttime nest building skills via observational social learning - by closely watching others and then practicing these complex constructions.
Cellular differentiation of stem cells into specialized cells requires many steps, including division, fate determination and migration. Researchers describe signaling mechanisms that determine one such example of vertebrate development — the transition from olfactory stem cells into highly regenerative olfactory neurons that are responsible for the sense of smell.