An ultra-conserved poison exon in the Tra2b gene encoding a splicing activator is essential for male fertility and meiotic cell division.

The cellular concentrations of splicing factors (SFs) are critical for controlling alternative splicing. Most serine and arginine-enriched (SR) protein SFs regulate their own concentration via a homeostatic feedback mechanism that involves regulation of inclusion of non-coding 'poison exons' (PEs) that target transcripts for nonsense-mediated decay. The importance of SR protein PE splicing during animal development is largely unknown despite PE ultra-conservation across animal genomes.

Histone variant H3.5 in testicular cell differentiation and its interactions with histone chaperones.

Testicular cell differentiation is a highly regulated process, essential for male reproductive health. The histone variant H3.5 is apparently a critical player in this intricate orchestra of cell types, but its regulation and function remains poorly understood.

An observational cross-sectional study on the characteristics of children and adolescents with non-specific spinal pain stratified by pain severity.

Background: Distinguishing self-limiting ('trivial') from potentially consequential spinal pain in childhood and adolescence is crucial to prevent over- or under-medicalization. The aim of this study was to stratify participants for severity of spinal pain and to investigate associations of pain severity with potential consequences of pain and some psychophysical and clinical factors.

Methods: In 2020 and 2021, children and adolescents took part in a voluntary population-based spine screening event across Switzerland organized by the Swiss Chiropractors Association.

Oral functions in adult persons with spinal muscular atrophy compared to a healthy control group: a prospective cross-sectional study with a multimodal approach.

Background: Oral function tests have been shown to reliably detect impaired bulbar function in adults with spinal muscular atrophy (SMA). Although not routinely recorded, it is known that persons with SMA are affected to varying degrees. Detecting differences in bite and tongue force, endurance, and maximum mouth opening has become particularly promising since the introduction of causal therapy for SMA.

Functional Insights in PLS3-Mediated Osteogenic Regulation.

Plastin-3 (PLS3) encodes T-plastin, an actin-bundling protein mediating the formation of actin filaments by which numerous cellular processes are regulated. Loss-of-function genetic defects in PLS3 are reported to cause X-linked osteoporosis and childhood-onset fractures. However, the molecular etiology of PLS3 remains elusive.