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
The Relationship Between Perfectionism and Sleep Quality Among Master's Students: The Mediating Role of Competitive Personality and the Moderating Effect of Resilience. [PDF]
Liu X, Wang Y, Zhai Y.
europepmc +1 more source
Objective We aimed to estimate the prevalence and cumulative incidence of hydroxychloroquine retinopathy (HCQ‐R) and its risk factors among patients receiving long‐term HCQ with rheumatic diseases through a systematic review and meta‐analysis of observational studies that used spectral‐domain optical coherence tomography (SD‐OCT) for screening ...
Narsis Daftarian +4 more
wiley +1 more source
From anxiety to innovation: the effect of perceived involution on digital creativity via the parallel mediation of relative deprivation and constructive deviance. [PDF]
Sun J, Zheng Z, Hu J, Chen D.
europepmc +1 more source
Objective To support high‐quality, patient‐centered care for systemic lupus erythematosus (SLE), the American College of Rheumatology (ACR) developed evidence‐based measures incorporating clinical and patient‐reported outcome measures (PROMs). Using the Consolidated Framework for Implementation Research (CFIR), we conducted semistructured interviews ...
Catherine Nasrallah +13 more
wiley +1 more source
Physical and physiological demands in elite female U-19 basketball: position-specific and competitive level differences in North African players. [PDF]
Abdlekrim NB +7 more
europepmc +1 more source
Objective Obesity, defined by body mass index (BMI) ≥30 kg/m2, is a risk factor for functional limitations in people with knee osteoarthritis (OA). However, function varies among such individuals. Our objective was to evaluate the implications of obesity subtypes on longitudinal patterns of physical functioning in people with or at risk for knee OA ...
Kristine Godziuk +7 more
wiley +1 more source
Correlates of competitive anxiety in student athletes: the interactive roles of competitive stress, psychological resilience, and achievement motivation. [PDF]
Chen Y, Bu Y, Sun C, Kim DH.
europepmc +1 more source
Objective Youth who experience a sport‐related knee injury have elevated odds of becoming overweight or developing obesity in 3 to 10 years, compounding their risk for posttraumatic osteoarthritis (PTOA). To inform prevention strategies, this study compared patterns of adiposity change between youth with a sport‐related knee injury and uninjured youth ...
Justin M. Losciale +6 more
wiley +1 more source
The evolution of China's youth sport policies-a systematic analysis based on national policy texts 2013-2023. [PDF]
Shi P, Bairner A.
europepmc +1 more source

