Results 171 to 180 of about 213,329 (290)

Integrating Genetic Modifier Genotype With Serum Proteomics in Duchenne Muscular Dystrophy Clinical Trials Links LTBP4 Genetic Modifier to IL‐23/CD93 Pathways in Muscle

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic modifiers of Duchenne muscular dystrophy (DMD) that alter disease severity or response to therapy have been reported using natural history or registry data sets of older corticosteroid‐treated patients. We tested associations of genetic modifiers on motor function outcomes in young (4 to < 7 years) steroid naïve clinical trial ...
Utkarsh J. Dang   +16 more
wiley   +1 more source

First Report of Uniparental Isodisomy of Chromosome 15 Revealing Angelman Syndrome and Microphthalmia Associated With a Novel Homozygous ALDH1A3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Paternal isodisomy of chromosome 15 (iUPD15) is a recognized cause of Angelman syndrome (AS), accounting for approximately 2%–5% of cases. Additionally, another recognized consequence of iUPD is the unmasking of autosomal recessive disorders. However, reports of recessive disorders resulting from iUPD15 remain scarce in the literature.
Gabriela Roldão Correia‐Costa   +4 more
wiley   +1 more source

Innovative PLA or PCL‐Based Ocular Implants Obtained From Tape Casting or Electrospinning for Sustained‐Release Dexamethasone

open access: yesJournal of Applied Polymer Science, EarlyView.
PLA and PCL ocular implants prepared by tape casting and electrospinning provide sustained dexamethasone release with distinct release profiles governed by polymer type and processing method. The relationship between polymer structure, degradation behavior, and drug release demonstrates the potential of these fabrication techniques for controlled ...
Renata Bochanoski   +6 more
wiley   +1 more source

The skeleton of the green Iguana iguana (Squamata: Iguanidae) and its intraspecific morphological variation

open access: yesThe Anatomical Record, EarlyView.
Abstract The green iguana (Iguana iguana) is an iguanine lizard with herbivorous and arboreal habits, whose distribution spans through South America, Central America to the south of North America. Although the genus Iguana is well‐known, the species still lacks a comprehensive and up‐to‐date anatomical study, particularly addressing the axial skeleton,
Vieno Rosa   +2 more
wiley   +1 more source

A Rare RIPK3 Variant Enhances Necroptosis and Promotes Inflammation in a Still Disease–Like Autoinflammatory Syndrome

open access: yesArthritis &Rheumatology, EarlyView.
Objective Still disease represents a prototypical polygenic systemic autoinflammatory disease, characterized by recurrent systemic inflammation and dysregulation of innate immunity. Despite extensive clinical characterization, familial clustering Still disease remains unreported.
Longfang Chen   +23 more
wiley   +1 more source

A comparative performance evaluation of the VIDAS cytomegalovirus (CMV) interferon-gamma release assay (IGRA) and T-SPOT CMV for measuring CMV-specific T-cell responses in allogeneic hematopoietic stem cell transplant recipients receiving letermovir prophylaxis. [PDF]

open access: yesJ Clin Microbiol
Solano de la Asunción C   +14 more
europepmc   +1 more source

T cells, the Next Big Target in Axial Spondyloarthritis?

open access: yesArthritis &Rheumatology, EarlyView.
Axial spondyloarthritis (axSpA) is a chronic inflammatory disease characterized by complex immune dysregulation, with T cells playing a central role in its pathogenesis. In this review, we synthesize current knowledge on diverse T cell subsets in axSpA, their pathogenic mechanisms, and emerging therapeutic strategies targeting these cells. We highlight
Mansi K. Aparnathi, Nigil Haroon
wiley   +1 more source

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