Results 151 to 160 of about 270,897 (278)
Annals of Neurology, EarlyView.Objective Biallelic variants in PRKN cause autosomal recessive Parkinson's disease (PD) with a median age at onset of 31 years. When evaluating the 16 previously published carriers of a homozygous deletion of Exon 2 from the International Parkinson's Disease and Movement Disorder Society Gene Database (MDSGene) database, the median age at onset is ...
Arian Hach +14 more
wiley +1 more source
This protocol is used to characterize viral RNA polymerase based directed evolution tools via fluctuation analysis to calculate the mutation rate. It is specific to the stop codon reversal of the aadA gene, which we use to characterize the mutational power of the tool.
openaire +1 more source
Genetic Diversity, Adaptation, Wild Introgression, and Coat Color Mutation of Golden Yak
Animal Research and One Health, EarlyView.Genetic diversity, adaptation, wild introgression, and coat color mutation of golden yak from two populations on the Qinghai‐Xizang Plateau. ABSTRACT The golden yak lives on the Qinghai‐Xizang Plateau with a golden coat and adapts to high altitudes and strong ultraviolet environment. The golden coat is a prominent phenotype in many domesticated species,
Huixuan Yan +15 more
wiley +1 more source
ANK1 and EPB41 Variants and the Risk of Steroid‐Induced Osteonecrosis
Arthritis &Rheumatology, EarlyView.Objective Steroid‐induced osteonecrosis of the femoral head (SONFH) is a refractory skeletal disorder influenced by genetic and environmental factors. However, conclusive pathogenic genetic evidence remains elusive due to the limited exploration of rare damaging variants. In this study, we aimed to identify rare variants associated with SONFH.
Shengbao Chen +21 more
wiley +1 more source
Genome-wide screening reveals metabolic regulation of stop-codon readthrough by cyclic AMP. [PDF]
Nucleic Acids Res, 2023 Lyu Z +7 more
europepmc +1 more source
Yielding at stop codons: expanding the genetic code.
Chemistry & biology, 2004 Codon-specific incorporation of noncoded amino acids into proteins can diversify the genetic code. Now, in both E. coli and S. cerevisiae, iterative rounds of selection can be used to isolate aminoacyl-tRNA synthetases that aminoacylate suppressor tRNAs with noncoded amino acids.
openaire +2 more sources
British Journal of Clinical Pharmacology, EarlyView.Spinal muscular atrophy (SMA) is a severe neuromuscular disease with emerging therapeutic complexity. This review aims to systematically map the global pipeline of investigational treatments for SMA. Using ClinicalTrials.gov and complementary international registries, we identified 21 planned or ongoing interventional trials from 2020 to 2025 targeting
Andrej Belančić +7 more
wiley +1 more source
British Journal of Clinical Pharmacology, EarlyView.Aims The repurposed use of favipiravir in COVID‐19 has been reported to have limited clinical efficacy, yet it has been widely used in some countries. Favipiravir causes mutagenesis in RNA viruses, and it is currently unknown whether it may have a measurable effect on the virus in humans.
Akosua A. Agyeman +9 more
wiley +1 more source
Biotechnology and Bioengineering, EarlyView.A novel puromycin linker for cDNA display was synthesized via SPAAC reaction. Its functionality was confirmed by recovering intact DNA after selection against EpCAM. The system also enabled the verification of bicyclic peptides during display, demonstrating its utility for constructing and screening structurally complex peptide libraries.
Simon Schneider +3 more
wiley +1 more source