Results 41 to 50 of about 220,441 (262)
, 2021 The synonymous mutations detected in the study. (XLSX)
Lilja Jansson (9620924) +2 more
core +1 more source
FEBS Open Bio, EarlyView.The presence of biotin‐binding avidin proteins in fish and their biological significance are poorly characterized. We cataloged fish avidins and demonstrate that they are widely present and evolutionarily conserved. We created avd knockout zebrafish and show that zebavidin is dispensable for development and that resistance of avd knockout embryos in ...
Anni K. Saralahti +5 more
wiley +1 more source
Synonymous codon usage regulates translation initiation
Cell Reports, 2023 Summary: Nonoptimal synonymous codons repress gene expression, but the underlying mechanisms are poorly understood. We and others have previously shown that nonoptimal codons slow translation elongation speeds and thereby trigger messenger RNA (mRNA ...
Chloe L. Barrington +7 more
doaj +1 more source
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Non-synonymous and synonymous polymorphism in four lineages of P. oryzae.
, 2022 For each lineage, only orthogroups with sample size > = 4 were included in calculations. Lineage: lineage of origin of genomes used in calculations for each orthogroup. Orthogroup: orthogroup ID. N: sample size.
Joëlle Milazzo (3241791) +12 more
core +1 more source
Gravity‐Dependent Modulation of Downbeat Nystagmus: Insights From Velocity‐Storage Dysfunction
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Downbeat nystagmus varies with head position, a phenomenon termed gravity‐dependent modulation. We aimed to clarify its mechanism using a velocity‐storage model. Methods In 10 patients with downbeat nystagmus due to cerebellar disorders, we recorded eye movements at different pitch‐ and roll‐axis head positions.
Ji‐Hyung Park +5 more
wiley +1 more source
Frontiers in Genetics, 2021 Synonymous mutations are generally considered non-pathogenic because it did not alter the amino acids of the encoded protein. Publications of the associations between synonymous mutations and abnormal splicing have increased recently, however, not much ...
Pengzhen Jin +12 more
doaj +1 more source
Advanced Engineering Materials, EarlyView.Thermomechanical fatigue tests of laser beam powder bed fusion (PBF‐LB) Inconel 718 show that the additively manufactured material reaches almost the lifetimes of conventionally‐rolled material under no‐dwell conditions. Introducing dwell times at the maximum temperature markedly reduces the lifetimes due to pronounced grain boundary sliding associated
Stefan Guth +6 more
wiley +1 more source
The distribution of fitness effects among synonymous mutations in a gene under directional selection
eLife, 2019 The fitness effects of synonymous mutations, nucleotide changes that do not alter the encoded amino acid, have often been assumed to be neutral, but a growing body of evidence suggests otherwise.
Eleonore Lebeuf-Taylor +4 more
doaj +1 more source
Fostering Innovation: Streamlining Magnetocaloric Materials Research by Digitalization
Advanced Engineering Materials, EarlyView.Magnetocaloric cooling (MCE) is an environmentally friendly refrigeration method with great potential. Optimizing MCE materials involves the preparation and screening of large quantities of samples, which in turn generates a large amount of data. A digitalization approach is presented that uses ontologies, knowledge graphs, and digital workflows to ...
Simon Bekemeier +17 more
wiley +1 more source