Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
ABSTRACT Dravet Syndrome (DS) is a developmental and epileptic encephalopathy predominantly caused by heterozygous loss‐of‐function variants in SCN1A, which encodes Nav1.1. Conserved upstream open reading frames (uORFs) in SCN1A were validated to regulate translation in reporter assays, demonstrating the therapeutic viability of increasing Nav1.1 from ...
Aiswarya Saravanan +7 more
wiley +1 more source
Three-Dimensional Imaging Based on Refractive Camera Model and Error Calibration for Risley-Prism Imaging System. [PDF]
Luo W, Yang S, Huang D, Huang F, Wang P.
europepmc +1 more source
ABSTRACT Objective To evaluate the diagnostic accuracy of glial fibrillary acidic protein (GFAP) measured in dried plasma spots versus conventional plasma‐ and serum‐GFAP testing for assessment of disease severity in aquaporin‐4 immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4‐IgG+ NMOSD).
Felix Wohlrab +19 more
wiley +1 more source
Diagnostic Criteria for Convergence Excess: Diagnostic Validity of Clinical Signs Associated with Near Esophoria. [PDF]
Cacho-Martínez P +3 more
europepmc +1 more source
Clinical characteristics and concordance of anti‐MDA5 autoantibodies: A multicentre Australian study
Objectives In Australia, anti‐MDA5 antibodies are exclusively tested by line immunoblot assay (LIA). The clinical concordance of a LIA‐positive anti‐MDA5 result is unclear. We aimed to describe the clinical features and determine the clinical concordance of patients with anti‐MDA5 antibodies.
Syed B Ali +11 more
wiley +1 more source
openaire +2 more sources
Dataset of prototype structures adopted by intermetallic compounds with <i>AB</i> stacking. [PDF]
Selvaratnam B +3 more
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
Phase Field Failure Modeling: Brittle‐Ductile Dual‐Phase Microstructures under Compressive Loading
The approach by Amor and the approach by Miehe and Zhang for asymmetric damage behavior in the phase field method for fracture are compared regarding their fitness for microcrack‐based failure modeling. The comparison is performed for the case of a dual‐phase microstructure with a brittle and a ductile constituent.
Jakob Huber, Jan Torgersen, Ewald Werner
wiley +1 more source
Scale-Adaptive High-Resolution Imaging Using a Rotating-Prism-Guided Variable-Boresight Camera. [PDF]
Deng Z, Li A, Zhao X, Lai Y, Jin J.
europepmc +1 more source

