Results 21 to 30 of about 212,427 (218)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu +21 more
wiley +1 more source
Compound Heterozygote Friedreich Ataxia Patients With Covert Proximal FXN Gene Deletions
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT We present Friedreich ataxia patients with frataxin gene deletions. Data and records were collected at the Children's Hospital of Philadelphia from patients enrolled in the FACOMS natural history study. Patients with proximal deletions initially diagnosed with only one GAA expanded allele had more severe disease than their homozygous expansion
Michael P. Lazaropoulos +5 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Gliomas have undergone a profound redefinition over the past decade, transitioning from morphology‐based entities to biologically coherent diseases defined by molecular alterations. The 2021 WHO Classification of Tumors of the Central Nervous System and its 2022 update formalize this shift, establishing integrated diagnosis as the global ...
Maria Guarnaccia, Sebastiano Cavallaro
wiley +1 more source
The Lupus Damage Index Revision Program: Results From the Item Generation and Reduction Phases
Arthritis Care &Research, EarlyView.Objective A data‐driven and expert/patient consensus‐based project to develop a revised Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) is under way supported by SLICC, ACR, and the Lupus Foundation of America. Our objective is to report the item generation and reduction phase results
Burak Kundakci +25 more
wiley +1 more source
Fusogenic RNA Nanomodules for Fusion‐Mediated and Multiplexed siRNA Delivery
Advanced Functional Materials, EarlyView.A fusogenic lipid‐layered RNA nanomodules (L‐CRAMs) enable high‐capacity and long‐lasting siRNA delivery through membrane fusion. These nanomodules carry exceptionally large siRNA payloads, avoid conventional endosomal uptake, and release multiple functional siRNAs through Dicer‐mediated processing.
Sunghyun Moon +5 more
wiley +1 more source
Advanced Functional Materials, EarlyView.Co‐assembly of rationally designed glycosaminoglycan‐binding peptides with sulfated glycosaminoglycans yields supramolecular hydrogels with tunable mechanics and matrix‐mediated cytokine retention. The glycosaminoglycans thereby act as cofactors, driving a coil‐to‐β‐sheet transition that triggers gelation.
Shirel Veretnik +8 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.In this study, Hammer et al. highlight cyclic‐arginine surface engineering as a highly biocompatible, controllable, and concentration‐dependent regulator of intravitreal nanoparticle mobility in vivo in a translational large animal model. The cyclic arginine surface‐modification supports the development of next‐generation biomaterials for long‐acting ...
Maximilian Hammer +12 more
wiley +1 more source
Advanced Healthcare Materials, EarlyView.Dynamic compression enhances mesenchymal stromal cell proliferation in nonwoven PET scaffolds under chondrogenic differentiation conditions and triggers mechanosensitive transcriptional programs associated with extracellular matrix remodeling. These findings highlight the potential of mechanically stimulated PET scaffolds as a promising platform for ...
Graciosa Quelhas Teixeira +8 more
wiley +1 more source
Advanced Materials, EarlyView.A wearable electrochemical microneedle patch integrates Prussian Blue redox transduction with molecularly imprinted polymer recognition for reagent‐free sampling and detection of thrombo‐inflammatory biomarkers in dermal interstitial fluid. The platform tracks thrombin and inflammatory cytokines with sensitive in vitro, ex vivo, and in vivo performance,
Mahmoud Ayman Saleh +11 more
wiley +1 more source
Advanced Materials, EarlyView.In this work, we introduce ancillary‐ligand‐mediated growth control of ultrathin CsPbI3 PeNPLs to achieve highly uniform thickness and reduced agglomeration. Strong ancillary‐ligand coordination to the perovskite surface regulates nucleation and improves surface passivation, enabling color‐pure emission and preferentially oriented superlattices.
Jongbeom Kim +23 more
wiley +1 more source