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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.
View Article and Find Full Text PDFDirected evolution of an orthogonal transcription engine for programmable gene expression in eukaryotes.
iScience
January 2025
Laboratory of Antibody Discovery and Accelerated Protein Therapeutics, Center for Infectious Diseases, Houston Methodist Research Institute and Department of Pathology and Genomic Medicine, Houston Methodist Hospital, Houston, TX, USA.
T7 RNA polymerase (RNAP) has enabled orthogonal control of gene expression and recombinant protein production across diverse prokaryotic host chassis organisms for decades. However, the absence of 5' methyl guanosine caps on T7 RNAP-derived transcripts has severely limited its utility and widespread adoption in eukaryotic systems. To address this shortcoming, we evolved a fusion enzyme combining T7 RNAP with the single subunit capping enzyme from African swine fever virus using .
View Article and Find Full Text PDFRare variant associations with birth weight identify genes involved in adipose tissue regulation, placental function and insulin-like growth factor signalling.
Nat Commun
January 2025
Department of Clinical and Biomedical Sciences, Faculty of Health and Life Sciences, University of Exeter, Exeter, UK.
Investigating the genetic factors influencing human birth weight may lead to biological insights into fetal growth and long-term health. We report analyses of rare variants that impact birth weight when carried by either fetus or mother, using whole exome sequencing data in up to 234,675 participants. Rare protein-truncating and deleterious missense variants are collapsed to perform gene burden tests.
View Article and Find Full Text PDFPersistence of Long COVID Symptoms Two Years After SARS-CoV-2 Infection: A Prospective Longitudinal Cohort Study.
Viruses
December 2024
The Sheba Pandemic Preparedness Research Institute (SPRI), Sheba Medical Center, Tel Hashomer, Ramat Gan 52621, Israel.
Background/objectives: Millions of individuals worldwide continue to experience symptoms following SARS-CoV-2 infection. This study aimed to assess the prevalence and phenotype of multi-system symptoms attributed to Long COVID-including fatigue, pain, cognitive-emotional disturbances, headache, cardiopulmonary issues, and alterations in taste and smell-that have persisted for at least two years after acute infection, which we define as "persistent Long COVID". Additionally, the study aimed to identify clinical features and blood biomarkers associated with persistent Long COVID symptoms.
View Article and Find Full Text PDFOptimizing Correction Factors on Color Differences for Automotive Painting Services.
Sensors (Basel)
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Department of Management and Industrial Engineering, University of Petrosani, 332003 Petrosani, Romania.
Currently, the automotive sector is showing increased demands regarding the color of cars in general, but especially the quality and the time of painting, in particular. Companies working in this industry, especially in specialized painting services, must perform work of impeccable quality in the shortest possible time in order to be efficient. Color differences that appear in different areas of the car result from the use of different formulas for obtaining color.
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