Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
P-Selectin Inhibition and the Structure-Activity Relationship of Sea Cucumber-Derived Fucosylated Glycosaminoglycan Oligosaccharides. [PDF]
Li S +7 more
europepmc +1 more source
Molecular Biomarkers in Meniere's Disease: A Scoping Review of Current Evidence
Abstract Objective Meniere's disease is a complex chronic inner ear condition that is characterized by vertigo, tinnitus, aural fullness, and progressive hearing loss. Currently, diagnostic strategies remain symptom‐driven, and treatments focus on management of discrete episodes rather than targeting underlying pathophysiology.
Hamza Kamran +3 more
wiley +1 more source
High Spinal Cord Injury After a Minor Fall in a 23-Month-Old Girl With Atlantoaxial Instability Associated With Morquio Type A: A Case Report. [PDF]
Kryssi V +4 more
europepmc +1 more source
Enterovirus infections in children
Enteroviruses (EVs) are major pathogens causing a wide spectrum of diseases in children worldwide. This review summarizes the epidemiology, virology, viral replication, and virus‐host interactions of EVs. It also highlights current advances in clinical diagnosis, antiviral therapies, and vaccine development, providing insights into future strategies ...
Xiangpeng Chen +11 more
wiley +1 more source
Standardized Effect Measures Informing Next-Generation Strategies for Mechanical Stimulation in Cartilage Tissue Engineering. [PDF]
Shen JK +7 more
europepmc +1 more source
Role of defensins in immunothrombosis
Defensins are important proteins that link the immune system and blood clotting, playing a key role in immunothrombosis. α‐defensins mainly come from neutrophils, while β‐defensins are produced by epithelial cells and platelets. These proteins help form blood clots in several ways: they slow down clot breakdown (fibrinolysis), activate platelets, and ...
Yuebing Wang +7 more
wiley +1 more source
Evaluation of a Micronized Collagen Wound Matrix for Advanced Wound Management: Physical, Structural and Biochemical Properties. [PDF]
Nasrallah RA +5 more
europepmc +1 more source
Granzyme K: A new frontier in systemic lupus erythematosus
The role of Granzyme K in the pathogenesis of systemic lupus erythematosus and its clinical translational significance. Abstract Systemic lupus erythematosus (SLE) is a complex autoimmune disorder driven by dysregulated adaptive and innate immunity and aberrant complement activity.
Zhongyu Chen +5 more
wiley +1 more source
A Single-Cell Analysis Reveals Macrophage Heterogeneity Driving Plaque Vulnerability in Coronary and Carotid Arteries. [PDF]
Yoshida T +17 more
europepmc +1 more source

