Results 141 to 150 of about 646,440 (257)

Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
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

Interleukin Family-Based Signature Relates to Cancer-Associated Fibroblasts Spatial Distribution and Immune Therapy Response in Pancreatic Carcinoma

open access: yesJournal of Inflammation Research
Yang Cheng,1,2,* Shuzhe Xiao,3,* Xiangzhao Li,4,* Biao Wang,5 Yi Lei,1 Penghui Sun,6 Li Ma,2 Yun Zhu1 1Department of Infectious Diseases, Nanfang Hospital, Southern Medical University; State Key Laboratory of Organ Failure ...
Cheng Y   +7 more
doaj  

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou   +6 more
wiley   +1 more source

Mucocutaneous Disease Activity and Damage Accrual in Systemic Lupus Erythematosus: Analyses From the Asia‐Pacific Lupus Collaboration Longitudinal Cohort Study

open access: yesArthritis Care &Research, EarlyView.
Objective This research article aims to describe the prevalence, associations, and health‐related quality of life (HRQoL) impact of mucocutaneous features of systemic lupus erythematosus (SLE). Methods Data from the Asia‐Pacific Lupus Collaboration cohort were analyzed (2013–2021).
Amanda M. Saracino   +42 more
wiley   +1 more source

Herpes Simplex Virus Hepatitis: An Overlooked Cause of Acute Liver Failure Across a Broad Spectrum of Immunocompromise. [PDF]

open access: yesLiver Int
Mondelli MU   +5 more
europepmc   +1 more source

Cumulative Social Disadvantage and Disease Activity in Juvenile Idiopathic Arthritis: A Childhood Arthritis and Rheumatology Research Alliance Registry Study

open access: yesArthritis Care &Research, EarlyView.
Objective Social determinants of health (SDOH) contribute to juvenile idiopathic arthritis (JIA) disparities, but most studies have assessed SDOH independently rather than cumulatively across individual, family, and neighborhood levels. Using a socioecological framework, we investigated the relationship among cumulative social disadvantage ...
William Daniel Soulsby   +448 more
wiley   +1 more source

Hepatic Encephalopathy Severity and Mortality Risk Stratification in Alcohol-Related Acute-on-Chronic Liver Failure. [PDF]

open access: yesDiagnostics (Basel)
Glisic T   +7 more
europepmc   +1 more source

Obesity Subtypes and Longitudinal Trajectories of Function Over Seven Years of Follow‐Up: Data From the Multicenter Osteoarthritis Study

open access: yesArthritis Care &Research, EarlyView.
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

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