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.

Key features and guidelines for the application of microbial alpha diversity metrics.

Studies of microbial communities vary widely in terms of analysis methods. In this growing field, the wide variety of diversity measures and lack of consistency make it harder to compare different studies. Most existing alpha diversity metrics are inherited from other disciplines and their assumptions are not always directly meaningful or true for microbiome data.

Comprehensive air quality assessment including non-targeted approaches in primary schools from Spain.

This work aims to establish a strategy to comprehensively assess the indoor air quality in schools including the analysis of chemical pollutants, bio-aerosols like fungi, bacteria and respiratory viruses and the identification of volatile and semi-volatile organic compounds applying non-targeted approaches. For this, a pilot study was performed in four primary schools from Spain, located in different urban and rural areas during different seasons. Common indoor pollutants, like CO NO, O, CO, particulate matter (PM, PM), ultrafine particles (UFP), total volatile organic compounds (TVOCs), and formaldehyde (HCHO), were assessed in terms of maximum recommended levels, daily variations, seasonality, and school location.

Influence of surface engineering on the transport properties of lead sulfide nanomaterials.

Lead Sulfide (PbS) has garnered attention as a promising thermoelectric (TE) material due to its natural abundance and cost-effectiveness. However, its practical application is hindered by inherently high lattice thermal conductivity and low electrical conductivity. In this study, we address these challenges by surface functionalization of PbS nanocrystals using CuS molecular complexes-based ligand displacement.