Results 121 to 130 of about 10,137,853 (317)
ABSTRACT Pathogenic variants in KIF1C cause Spastic Paraplegia 58 (SPG58), typically presenting with cerebellar ataxia and spastic paraparesis. We report two unrelated patients with spastic paraparesis, cerebellar ataxia, and tremor. Whole‐exome sequence analysis identified novel homozygous variants in the motor domain of KIF1C (NM_006612.6): c.921G>A (
Akihiko Mitsutake +12 more
wiley +1 more source
Reusing XML Schemas’ Information as a Foundation for Designing Domain Ontologies [PDF]
Thomas Bosch
openalex +1 more source
Objective A leading cause of death among scleroderma (SSc) patients, interstitial lung disease (ILD) remains challenging to prognosticate. The discovery of biomarkers that accurately determine which patients would benefit from close monitoring and aggressive therapy would be an essential clinical tool.
Cristina M Padilla +13 more
wiley +1 more source
RexUIE: A Recursive Method with Explicit Schema Instructor for Universal Information Extraction [PDF]
Chengyuan Liu +7 more
openalex +1 more source
Objective This study assessed sarilumab in treating patients with polyarticular‐course juvenile idiopathic arthritis (pcJIA). Methods This phase 2b, open‐label study (NCT02776735) consisted of three sequential parts (each with a core‐treatment and extension‐phase). During part 1, three doses were assessed in two weight groups (Group A/B: ≥30–60 kg/≥10–<
Fabrizio De Benedetti +19 more
wiley +1 more source
Objective Several case reports have proposed a potential association between COVID‐19 vaccination and the subsequent development of idiopathic inflammatory myositis (IIM). This study examined prior COVID‐19 vaccination in US Veterans who developed new‐onset IIM compared to those without new‐onset IIM.
Caleb Hernández +10 more
wiley +1 more source
From ESP to CLIL using the Schema Theory
This paper explains the use of the Schema Theory in planning and preparing a Physiology lesson in a CLIL tertiary context in a Spanish university. The adopted combination of methods used in applying the theory is transferable to any context and subject ...
Nashwa Nashaat Sobhy +2 more
doaj
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
Contextual influences on self-schema activation : facilitated processing of positive self-referent information by individuals in ego-solving situation [PDF]
Andrew J. Howell
openalex

