Results 181 to 190 of about 3,880,536 (344)
BiomedicinesBackground/Objectives: Congenital myasthenic syndromes (CMSs) are caused by variants in >30 genes with increasing numbers of variants of unknown significance (VUS) discovered by next-generation sequencing. Establishing VUS pathogenicity requires in vitro
Finlay Ryan-Phillips +5 more
doaj +1 more source
DisruptionBench: A robust benchmarking framework for machine learning-driven disruption prediction [PDF]
Spangher Lucas +9 more
openalex +1 more source
SmallTalk: a novel small‐sized fusion tag for peptide expression and purification
FEBS Open Bio, EarlyView.The SmallTalk fusion tag allows for the efficient expression and purification of soluble recombinant proteins or peptides in Escherichia coli. Testing with SmallTalk‐GFP confirmed that the proteins were soluble and folded correctly, while SmallTalk‐Bin1b maintained its antimicrobial activity against various bacterial isolates. This streamlined workflow
Atika Tariq +3 more
wiley +1 more source
Analysis of Treacher Collins syndrome 4‐associated mutations in Schizosaccharomyces pombe
FEBS Open Bio, EarlyView.Fission yeast models carrying Treacher Collins syndrome type 4‐associated mutations reveal that impaired processivity of RNA polymerase I leads to defective rRNA transcription. This study highlights the essential role of a conserved arginine residue in Pol I elongation and provides mechanistic insight into the pathogenesis of ribosomopathies.
Kei Kawakami, Hiroaki Kato
wiley +1 more source
Machine learning-driven prediction models and mechanistic insights into cardiovascular diseases: deciphering the environmental endocrine disruptors nexus [PDF]
Wen Yu +6 more
openalex +1 more source
FEBS Open Bio, EarlyView.KHS‐Cnd peptide is able to impair biofilm formation and disaggregate mature biofilms in Acinetobacter baumannii clinical isolates. Differences in extracellular metabolites reflect changes in biofilm metabolism due to KHS‐Cnd treatment. Among the differentially represented extracellular metabolites upon KHS‐Cnd treatment, the significantly altered ...
Fernando Porcelli +9 more
wiley +1 more source
Pathogenic Neurofibromatosis type 1 gene variants in tumors of non‐NF1 patients and role of R1276
FEBS Open Bio, EarlyView.Somatic variants of the neurofibromatosis type 1 (NF1) gene occur across neoplasms without clinical manifestation of the disease NF1. We identified emerging somatic pathogenic NF1 variants and hotspots, for example, at the arginine finger 1276. Those missense variants provide fundamental information about neurofibromin's role in cancer.
Mareike Selig +7 more
wiley +1 more source
Prediction of Disruptive Technological Innovation Trends Based on Multidimensional Data Analysis [PDF]
Yuchen Wu
openalex +1 more source