Results 111 to 120 of about 5,864 (201)
A Depolarizing Leak in Sodium Bicarbonate Cotransporter NBCe1 Causes Brain Edema
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objectives SLC4A4 encodes electrogenic sodium bicarbonate cotransporter NBCe1, prominently expressed in kidney and brain. Recessive loss‐of‐function variants in SLC4A4 cause proximal renal tubular acidosis, no brain edema. In the brain, NBCe1 is expressed by astrocytes, where it regulates pH and mediates astrocyte volume changes.
Quinty Bisseling +16 more
wiley +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
Arthritis Care &Research, EarlyView.Over the past 50 years, the science of pediatric rheumatology has grown exponentially due to an expansion in the understanding of complex rheumatic conditions and a surge in novel targeted therapeutics. Physician‐scientists in the field of pediatric rheumatology have played major roles in these advancements that have improved the care of children ...
Ekemini A. Ogbu +2 more
wiley +1 more source
β‐Catenin/c‐Myc Axis Modulates Autophagy Response to Different Ammonia Concentrations
Advanced Biology, Volume 9, Issue 3, March 2025.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
Planar Solid‐State Nanopores Toward Scalable Nanofluidic Integration Based on CMOS Technology
Advanced Engineering Materials, EarlyView.We present a scalable silicon‐based fabrication strategy for planar solid‐state nanopores to enable their integration with complex nanofluidic systems. Prototype devices demonstrate normal voltage‐current characteristics, good noise performance, and appreciable streaming currents. Our CMOS‐compatible fabrication process offers precise geometric control
Ngan Hoang Pham +7 more
wiley +1 more source
Advanced Engineering Materials, EarlyView.A unified research data management framework for heterogeneous materials data is presented. The system integrates multimodal datasets using ontologies and knowledge graphs, enabling interoperability and FAIR (findable, accessible, interoperable, reusable) data principles. By linking data across scales and workflows, it supports reproducible, Artifitial
Doaa Mohamed +6 more
wiley +1 more source
Multimodal Data‐Driven Microstructure Characterization
Advanced Engineering Materials, EarlyView.A self‐consistent autonomous workflow for EBSP‐based microstructure segmentation by integrating PCA, GMM clustering, and cNMF with information‐theoretic parameter selection, requiring no user input. An optimal ROI size related to characteristic grain size is identified.
Qi Zhang +4 more
wiley +1 more source
Soft Mechanical‐Electrical Logic Using Liquid Metal‐Filled 3D‐Printed Architectures
Advanced Engineering Materials, EarlyView.We present 3D‐printed soft mechanical–electrical logic elements that use liquid metal–filled silicone tubes actuated by thermoplastic polyurethane/polylactic acid (TPU/PLA) architectures to produce Boolean operations. Complementary normally open and normally closed unit cells perform repeatable binary transitions and can be combined into more complex ...
Christoph Lehmann +2 more
wiley +1 more source