Results 71 to 80 of about 18,188 (219)
The Journal of Pathology, EarlyView.Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen +14 more
wiley +1 more source
Circadian Genes as Exploratory Biomarkers in DMD: Results From Both the mdx Mouse Model and Patients
Frontiers in Physiology, 2021 Duchenne muscular dystrophy (DMD) is a rare genetic disease due to dystrophin gene mutations which cause progressive weakness and muscle wasting. Circadian rhythm coordinates biological processes with the 24-h cycle and it plays a key role in maintaining
Rachele Rossi +21 more
doaj +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
PROTEOMICS, EarlyView.ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2020 Delivery of therapeutic transgenes with adeno-associated viral (AAV) vectors for treatment of myopathies has yielded encouraging results in animal models and early clinical studies.
Jennifer B. Kwon +7 more
doaj +1 more source
Journal of Cachexia, Sarcopenia and Muscle, 2022 Background Cathelicidin, an antimicrobial peptide, plays a key role in regulating bacterial killing and innate immunity; however, its role in skeletal muscle function is unknown.
Moon‐Chang Choi +5 more
doaj +1 more source
British Journal of Pharmacology, EarlyView.Abstract Background and Purpose The absence of the protein dystrophin in Duchenne muscular dystrophy (DMD) leads to progressive muscle weakness, failing regeneration and deregulation of nitric oxide (NO) signalling. We focused on L‐citrulline, a precursor of L‐arginine, required for NO production in muscle, which is reduced in dystrophic mdx muscle ...
Lisamaura Tulimiero +14 more
wiley +1 more source
Decrease in Prosaposin in the Dystrophic mdx Mouse Brain
PLoS ONE, 2013 Duchenne muscular dystrophy caused by a mutation in the X-linked dystrophin gene induces metabolic and structural disorders in the brain. A lack of dystrophin in brain structures is involved in impaired cognitive function. Prosaposin (PS), a neurotrophic factor, is abundant in the choroid plexus and various brain regions.
Hui-Ling Gao +8 more
openaire +4 more sources
Utrophin Compensates dystrophin Loss during Mouse Spermatogenesis
Scientific Reports, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disorder resulting from mutations in the dystrophin gene. The mdx/utrn −/− mouse, lacking in both dystrophin and its autosomal homologue utrophin, is commonly used to model the clinical symptoms of
Hung-Chih Chen +6 more
doaj +1 more source
The role of metabolic remodeling in macrophage polarization and its effect on skeletal muscle regeneration [PDF]
, 2019 Macrophages are crucial for tissue homeostasis. Based on their activation, they might display classical/M1 or alternative/M2 phenotypes. M1 macrophages produce pro-inflammatory cytokines, reactive oxygen species (ROS), and nitric oxide (NO).
Alessio Torcinaro +13 more
core +1 more source
Clinical application of additive manufacturing in maxillofacial prosthetics: A scoping review
Journal of Prosthodontics, EarlyView.Abstract Purpose Digital workflows provide significant advances in prosthodontics, especially in terms of accuracy, reduced treatment duration, and quality of life. Moreover, additive manufacturing (AM) is particularly adapted for the fabrication of personalized complex prototypes required for the prosthetic rehabilitation of maxillofacial defects ...
Hélène Magro +2 more
wiley +1 more source