Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz +3 more
wiley +1 more source
Evaluation of Indicators Related to the Quality of Care for Patients with High Blood Pressure
Foundation: high blood pressure remains a global health problem with a substantial impact on cardiovascular morbidity and mortality. Objective: to evaluate indicators related to the quality of care for patients with high blood pressure.
Yosbelys Abrahantes Vilches +4 more
doaj
Effects of <i>Microbacterium algeriense</i> C14 on growth and rhizosphere environment of <i>Zinnia elegans</i> under cadmium and nickel stress. [PDF]
Liu H +5 more
europepmc +1 more source
Epigenetic reprogramming in hematopoietic stem and progenitor cells (HSPCs) and downstream myeloid cells, mediated by H3.3 downregulation and endogenous retroelement (ERE) overexpression, contributes to the progression of multiple sclerosis (MS). ABSTRACT Background Skewed myelopoiesis in the bone marrow has been identified as a key driver of multiple ...
Li‐Mei Xiao +6 more
wiley +1 more source
Early Postpartum Change in Lactoferrin in Bovine Colostrum During the First 12 h Postpartum and Its Relationship with On-Farm Quality Indicators. [PDF]
Stancheva E +4 more
europepmc +1 more source
ALDOA Promotes Glycolysis and NLRP3/GSDMD Pyroptosis to Accelerate ALS Progression
ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is characterized by progressive motor neuron degeneration. Glycolytic dysregulation is implicated in disease progression, yet the underlying mechanisms remain unclear. This study investigates how Aldolase A (ALDOA) drives ALS progression through glycolysis‐mediated motor neuron pyroptosis.
Kaixin Yan +9 more
wiley +1 more source
Not Only Follicular Helper T-Cells but Also Peripheral Helper T-Cells Expanded Correlate With Disease Severity and B-Cell Differentiation in Graves' Disease. [PDF]
Huang Z +5 more
europepmc +1 more source
The Role of Calcitonin Gene‐Related Peptide in High‐Altitude Headache: A Prospective Field Study
ABSTRACT Objective High‐altitude headache (HAH) is a common neurological condition associated with rapid ascent to high altitude. The pathophysiological mechanisms underlying HAH remain incompletely understood. Calcitonin gene‐related peptide (CGRP), a neuropeptide implicated in migraine pathophysiology, may play a key role in the pathophysiology of ...
Roman Schniepp +4 more
wiley +1 more source
Assessment of post-pandemic NAAT-based diagnostic capacity among laboratories with COVID-19 testing resource investments in Indonesia. [PDF]
Lestari BW +8 more
europepmc +1 more source
ABSTRACT Objective To (1) validate GAD65‐ELISA detection and quantification for type 1 diabetes mellitus and autoimmune neurological diagnoses, (2) correlate ELISA results (reference range < 5 IU/mL) with established radioimmunoprecipitation assay (RIA; ≤ 0.02 nmol/L), and (3) define ELISA clinical utility and pitfalls.
Andrew McKeon +11 more
wiley +1 more source

