Results 111 to 120 of about 368,851 (266)
Prominent Movement Disorders in RNU2‐2‐Related Spliceosomopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Pediatric movement disorders often overlap with neurodevelopmental diseases, suggesting shared molecular mechanisms. Variants in small nuclear RNA (snRNA) genes encoding spliceosome components have recently been associated with neurodevelopmental disorders, termed “RNUopathies.” We analyzed genome sequencing data from 14 patients with ...
Magdalena Krygier +6 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...
James M. Joers +19 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective To evaluate the expression of nine blood RNA biomarkers in a clinical trial based on genes previously identified in an experimental monkey model of stroke for diagnosis feasibility and prognostication. Methods IBIS‐CT1 was a prospective longitudinal study enrolling patients with ischemic stroke (IS) or intracerebral hemorrhage (ICH ...
Salomé Retailleau +11 more
wiley +1 more source
Augmenting and Assaying Nav1.1 Protein Quantity for Dravet Syndrome Therapy
Annals 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
Arthritis Care &Research, EarlyView.Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos +2 more
wiley +1 more source
Distinct Systemic Sclerosis Phenotypes Related to Ethnicity: An Opportunity to Personalize Care?
Arthritis Care &Research, EarlyView.Objective The objective is to describe and compare demographic, clinical, and serological characteristics of patients with systemic sclerosis (SSc) according to ethnic background. Methods Participants enrolled in the Canadian Scleroderma Research Group cohort who self‐identified to a single ethnicity group were included.
Danick Goulet +11 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.This study presents a bioengineered assembloid (ASM) system combining glioblastoma (GBM) cells in oxidized alginate (OA) microgels with dorsal organoids (DOs). This model simulates brain tumor‐host interactions, revealing enhanced GBM invasion, altered gene expression, and aggressive infiltration patterns, demonstrating ASM as a valuable platform for ...
Chao Liang +17 more
wiley +1 more source
Multidimensional Cellular Micro‐Compartments to Model Invasive Lobular Carcinoma Dormancy
Advanced Healthcare Materials, EarlyView.Invasive lobular carcinoma (ILC) is an understudied subtype of breast cancer that is susceptible to late recurrences. In this study, micro‐compartmentalization techniques spanning multiple dimensions, including 2D, pseudo‐3D, and 3D, are integrated to uncover the mechanisms underlying ILC dormancy, revealing the central role of p27Kip1.
Xilal Y. Rima +15 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.This study introduces a modular microfluidic platform that connects liver cells with live microbes to mimic key aspects of the gut–liver interaction in steatosis. Using this system, both microbial metabolites and live bacteria significantly reduced fat accumulation in liver cells, but live microbes triggered inflammation and broader metabolic changes ...
Hsih‐Yin Tan +7 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.What if human skin could remain fully alive and functional outside the body for weeks? A New Alternative Method (NAM) based on a vascularized full‐thickness skin microphysiological system achieves precisely this, preserving native vasculature, resident immunity, and metabolic activity for up to three weeks, while faithfully recapitulating radiation ...
Yusuf Surucu +13 more
wiley +1 more source