UDP‐glucose dehydrogenase variants cause dystroglycanopathy
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs+8 more
wiley +1 more source
Chronic tendon pathology: molecular basis and therapeutic implications [PDF]
Tendons are frequently affected by chronic pain or rupture. Many causative factors have been implicated in the pathology, which until relatively recently was under-researched and poorly understood.
Riley, GP
core +1 more source
Proteoglycans of the intervertebral disc. Homology of structure with laryngeal proteoglycans [PDF]
The structure of the proteoglycans from normal pig nucleus pulposus and relatively normal human annulus fibrosus and nucleus pulposus was investigated in detail and the results were compared with the current structural model of proteoglycans of hyaline cartilage. Like proteoglycans of cartilage, those of intervertebral disc contain keratan sulphate and
Richard L. Stevens+3 more
openaire +3 more sources
A PANoptosis‐Based Signature for Survival and Immune Predication in Glioblastoma Multiforme
ABSTRACT Objective PANoptosis is a concept of total cell death characterized by pyroptosis, apoptosis, and necroptosis. We aimed to explore the clinical significance of PANoptosis‐related genes (PARGs) in glioblastoma multiforme (GBM). Methods Expression profiles of GBM were downloaded from the XENA database as a training dataset to construct a ...
Jun Yang+4 more
wiley +1 more source
An Introduction to Proteoglycans and Their Localization [PDF]
Proteoglycans comprise a core protein to which one or more glycosaminoglycan chains are covalently attached. Although a small number of proteins have the capacity to be glycanated and become proteoglycans, it is now realized that these macromolecules have a range of functions, dependent on type and in vivo location, and have important roles in ...
Couchman, John R, Pataki, Andreea Csilla
openaire +4 more sources
Current and Future Cornea Chip Models for Advancing Ophthalmic Research and Therapeutics
This review analyzes cornea chip technology as an innovative solution to corneal blindness and tissue scarcity. The examination encompasses recent developments in biomaterial design and fabrication methods replicating corneal architecture, highlighting applications in drug screening and disease modeling while addressing key challenges in mimicking ...
Minju Kim+3 more
wiley +1 more source
Biglycan : a multivalent proteoglycan providing structure and signals [PDF]
Research over the past few years has provided fascinating results indicating that biglycan, besides being a ubiquitous structural component of the extracellular matrix (ECM), may act as a signaling molecule.
Năstase, Mădălina-Viviana+2 more
core
The pathogenesis of tendinopathy. A molecular perspective [PDF]
There are many publications that discuss the aetiology, diagnosis and treatment of the various forms of tendinopathy, but few are based on conclusive scientific evidence.
Riley, GP
core +1 more source
Intraoral Drug Delivery: Bridging the Gap Between Academic Research and Industrial Innovations
Intraoral drug delivery offers a promising route for systemic and localized therapies, yet challenges such as enzymatic degradation, limited permeability, and microbial interactions hinder efficacy. This figure highlights innovative strategies—mucoadhesive materials, enzyme inhibitors, and permeation enhancers—to overcome these barriers.
Soheil Haddadzadegan+4 more
wiley +1 more source
Versican splice variant messenger RNA expression in normal human Achilles tendon and tendinopathies [PDF]
Versican is the principal large proteoglycan expressed in mid-tendon, but its role in tendon pathology is unknown. Our objective was to define the expression of versican isoform splice variant messenger ribonucleic acid (mRNA) in normal Achilles tendons,
Corps, AN+6 more
core +2 more sources