Dominant-negative NARS1 R534* mutation causes wild-type subunit poisoning and heterodimer predominance in cells.

Aminoacyl-tRNA synthetases (aaRSs) catalyze the aminoacylation of tRNA with their cognate amino acids, an essential step in protein biosynthesis. While biallelic mutations in aaRSs often result in severe multi-organ dysfunction accompanied by developmental delays, monoallelic mutations typically cause milder, tissue-specific symptoms. However, a de novo monoallelic nonsense mutation (R534*) in the asparaginyl-tRNA synthetase (AsnRS)-resulting in a premature stop codon and 15-residue C-terminal truncation-has been identified in multiple families and is associated with severe neurodevelopmental symptoms.

Remote Blood Collection for Telomere Length Measurement: Assessing the Impact of Sample Characteristics and Handling on DNA Quality and Assay Outcomes.

Background: Telomere length (TL) is a valuable marker of aging and stress that reflects both genetic and environmental influences. Quantitative PCR (qPCR) TL measurement is a powerful and cost-effective assay, especially in population studies with limited quantities of source material. Nevertheless, collecting and transporting high-quality blood samples can be logistically challenging, and research suggests that several preanalytical and analytical factors can influence the reliability and precision of the qPCR assay.

Development of a Cocurricular Program to Prepare New Graduate Midwives for Rural Practice.

Limited maternity care access is a significant challenge affecting rural communities across the United States and Colorado, and midwives are a viable solution to closing these gaps. The Health Resources and Services Administration's MatCare grant program was designed to increase access to midwifery care for underserved populations through support for midwife trainees who will work in rural and underserved communities after graduation. We operationalized the MatCare aims to create the Colorado Rural Midwifery Workforce Expansion Program.

MAIT cell enrichment in Lynch syndrome is associated with immune surveillance and colorectal cancer risk.

Tissue microenvironment characteristics associated with elevated risk of colorectal cancer (CRC) in Lynch syndrome (LS) are poorly characterized. We applied the multimodal single cell sequencing platform ExCITE-seq to define the colonic cellular composition and transcriptome of LS carriers with and without a history of CRC compared with general population controls. Our analysis revealed widespread remodeling in LS that included striking expansion of epithelial stem and progenitor cells, and loss of fibroblast populations.