De novo and inherited dominant variants in U4 and U6 snRNAs cause retinitis pigmentosa.

The U4 small nuclear RNA (snRNA) forms a duplex with the U6 snRNA and, together with U5 and ∼30 proteins, is part of the U4/U6.U5 tri-snRNP complex, located at the core of the major spliceosome. Recently, recurrent variants in the U4 RNA, transcribed from the gene, and in at least two other genes were discovered to cause neurodevelopmental disorder.

A comparative study of two data-driven modeling approaches to predict drug release from ER matrix tablets.

The pharmaceutical industry is striving to develop innovative and promising tools, increasingly embracing new data-driven approaches, to understand, improve and accelerate the drug product development process. While extended release (ER) oral formulations offer a number of advantages, including maintenance of therapeutic drug levels, a reduction in dosing frequency, and minimization of side effects, achieving consistent drug release profiles remains a significant challenge. As a critical attribute for drug absorption into systemic circulation, in vitro dissolution testing represents a time-consuming and complex method for the evaluation of such formulations.

Translating Time: Challenges, Progress, and Future Directions.

Mice are the dominant model system to study human health and disease. Yet, there is a pressing need to use diverse model systems to address long-standing issues in biomedical sciences. Mice do not spontaneously recapitulate many of the diseases we seek to study.

Adolescents and parents experiencing parental cancer: construction of a nursing intervention model.

Objective: To develop a nursing intervention model for adolescents and parents experiencing parental cancer.

Method: Multimethod research, which integrated five studies: a scoping review and four qualitative studies. Considering the results of these studies, a nursing intervention model was constructed based on two theoretical frameworks, such as the A Model of Children's Adjustment to Parental Cancer, for adolescents, and Neuman Systems Model, for parents, and on a semantic framework, such as Nursing Ontology.