Results 91 to 100 of about 303,737 (269)
HGG AdvancesSummary: Canonical splice site variants (CSSVs) are often presumed to cause loss-of-function (LoF) and are assigned very strong evidence of pathogenicity (according to American College of Medical Genetics/Association for Molecular Pathology criterion ...
Rachel Y. Oh +15 more
doaj +1 more source
A PDF Tile Model for Geographic Map Data
ISPRS International Journal of Geo-Information, 2019 Vector tile mapping is an important issue in web map research. At present, vector tile mapping requires the symbolization of geographic information, as supported by cartographic software, and the development of a corresponding symbolic database when web ...
Xiaodong Zhou +3 more
doaj +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
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
Cognitive and Neuroimaging Divergence Between Juvenile and Adult FUS Amyotrophic Lateral Sclerosis
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder characterized by progressive motor neuron degeneration. Fused in sarcoma (FUS)‐associated juvenile ALS (jALS) represents a distinct and aggressive subgroup with rapid deterioration and poor prognosis.
Alexandra V. Jürs +7 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
Advanced Healthcare Materials, EarlyView.Catechol‐functionalized cellulose hydrogels are developed as injectable, bioadhesive platforms for retinal neuroprotection. The hydrogels exhibit tunable rheological and mechanical properties, strong tissue adhesion, and sustained antioxidative activity.
Kai‐Hsiang Chang +4 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.Fully recombinant protein‐based biomaterials execute complex Boolean logic for user‐programmable material degradation and concomitant therapeutic cargo release. Biologics, such as growth factors, can be incorporated within the crosslinkers as “drugamers”, while encapsulated cells can be released according to nested YES/OR/AND‐type logical operations ...
Murial L. Ross +3 more
wiley +1 more source
Advanced Materials, EarlyView.Extracellular vesicles (EVs) are cell‐derived nanoparticles that mediate intercellular communication through their dynamic biointerfaces. Owing to their intrinsic biological functions, EVs have emerged as promising platforms for biomedical applications.
Leila Pourtalebi Jahromi +3 more
wiley +1 more source