Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations.

Unlabelled: The past decade has seen remarkable progress in identifying genes that, when impacted by deleterious coding variation, confer high risk for autism spectrum disorder (ASD), intellectual disability, and other developmental disorders. However, most underlying gene discovery efforts have focused on individuals of European ancestry, limiting insights into genetic risks across diverse populations. To help address this, the Genomics of Autism in Latin American Ancestries Consortium (GALA) was formed, presenting here the largest sequencing study of ASD in Latin American individuals (n>15,000).

Oxytocin levels in response to CRH administration in hypopituitarism and hypothalamic damage: a randomized, crossover, placebo-controlled trial.

Increasing evidence supports the presence of oxytocin deficiency (OXT-D) in patients with hypopituitarism and hypothalamic damage (HHD), that might be associated with neuropsychological deficits and sexual dysfunction, leading to worse quality of life (QoL). Therefore, identifying a provocative test to diagnose an OXT-D will be important. Corticotropin-releasing hormone (CRH) is a candidate for such a test as it increases oxytocin secretion in animal models.

Long-term safety and efficacy of Oleogel-S10 (birch bark extract) in epidermolysis bullosa: 24-month results from the Phase III EASE Study.

Background: Epidermolysis bullosa (EB) is a group of rare, severe, genetic disorders characterised by persistent skin fragility and open wounds. EB manifests as cutaneous and mucosal blistering, erosions and impaired wound healing.

Objectives: To determine the long-term efficacy, tolerability and safety of Oleogel-S10 (birch bark extract) in dystrophic (DEB) and junctional (JEB) EB in the 24-months open-label phase (OLP) of the EASE study.

Cytoplasmic Regulation of the Poly(A) Tail Length as a Potential Therapeutic Target.

Virtually all mRNAs acquire a poly(A) tail co-transcriptionally, but its length is dynamically regulated in the cytoplasm in a transcript-specific manner. The length of the poly(A) tail plays a crucial role in determining mRNA translation, stability, and localization. This dynamic regulation of poly(A) tail length is widely used to create post-transcriptional gene expression programs, allowing for precise temporal and spatial control.

Exploring the relationship between upwelling intensity and socio-ecological attributes of marine exploitation areas for benthic resources (MEABRs), along the southern Humboldt Current system.

The Eastern Boundary Upwelling Systems (EBUS) sustains some of the most productive marine systems on Earth. Within each of these systems, the upwelling process exhibits spatial and temporal variation resulting in marked differences in upwelling intensity and seasonality along extensive coastlines. The study of this variation is well needed, given the magnitude of the services provided by upwelling, and the impending impacts of global warming on EBUS.