RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
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
'<i>In Every River, in Every Lake</i>': Impacts of Beaver Population Change on Indigenous Livelihoods and Wellbeing in the Inuvialuit Settlement Region, Western Canadian Arctic. [PDF]
Pearce C, Rohse M, Walshe N, Wheeler HC.
europepmc +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Ammonia, detoxified by the liver into urea and glutamine, impacts autophagy differently at varying levels. Low ammonia activates autophagy via c‐Myc and β‐catenin, while high levels suppress it. Using Huh7 cells and Spf‐ash mice, c‐Myc's role in cytoprotective autophagy is revealed, offering insights into hyperammonemia and potential therapeutic ...
S. Sergio +11 more
wiley +1 more source
Design and Testing of an Integrated Robot for Harvesting, Stipe-Cutting, and Grading of <i>Agaricus bisporus</i>. [PDF]
Ding T, Zhou Y, Ma H, Ding Y, Cui H.
europepmc +1 more source
This article presents the design, modeling, and characterization of air‐pressure–actuated programmable vibroacoustic metamaterials (PVAMM). The study focuses on leveraging air pressure to dynamically tune resonance frequencies for effective noise attenuation.
William Kaal +2 more
wiley +1 more source
Triboelectric Nanogenerators for Vehicle Energy Harvesting and Intelligent Sensing. [PDF]
Zhu C, Ren Y, Xi Z, Du H.
europepmc +1 more source
Building machine‐readable vocabularies for materials science is slow, expert‐driven work. This study benchmarks 13 large language models on two of its first steps: finding candidate terms in engineering articles and deciding where they belong in a class hierarchy.
Thomas Bjarsch +3 more
wiley +1 more source
Self-Sustaining Sensing Systems: Integration Strategies and Signal-Power Matching in Energy-Harvesting Electronics. [PDF]
Park T +5 more
europepmc +1 more source
Symmetry‐Guided Multifunctional Acoustic System Based on Mechanically Actuated Sonic Crystals
This study presents the design, simulation, and experimental validation of amultifunctional acoustic metamaterial based on rotationally engineered sonic crystals.By tuning cylinder orientations, controllable band gaps and six distinct functionalities—including switching, topological insulation, beam splitting, and logic operations—areachieved ...
Yuanyan Zhao +2 more
wiley +1 more source
Intrapleural left axillary artery bypass grafting compromising subsequent left internal thoracic artery harvesting: a case report. [PDF]
Hagiwara Y +5 more
europepmc +1 more source

