Results 81 to 90 of about 182,997 (357)
Advanced Science, EarlyView.Se deficiency downregulates SELENOT, disrupting mitochondrial function and elevating mtROS to induce glucose metabolic reprogramming, NADPH depletion, cysteine accumulation, and disulfidptosis‐mediated actin cytoskeleton collapse in chicken skeletal muscle.
Huanyi Liu +5 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2017 Loss-of-function mutations in the Fukutin-related protein (FKRP) gene cause limb-girdle muscular dystrophy type 2I (LGMD2I) and other forms of congenital muscular dystrophy-dystroglycanopathy that are associated with glycosylation defects in the α ...
Charles Harvey Vannoy +4 more
doaj +1 more source
Osteopontin ablation ameliorates muscular dystrophy by shifting macrophages to a pro-regenerative phenotype. [PDF]
, 2016 In the degenerative disease Duchenne muscular dystrophy, inflammatory cells enter muscles in response to repetitive muscle damage. Immune factors are required for muscle regeneration, but chronic inflammation creates a profibrotic milieu that exacerbates
Barton, Elisabeth R +7 more
core +2 more sources
Mechanical Stress Triggers Premature Senescence in Cardiac Fibroblasts
Advanced Science, EarlyView.Cellular senescence contributes to disease burden in cardiovascular disease (CVD) and aging, highlighting the need to understand its induction. In primary cardiac fibroblasts, reduced strain and increased frequency, mimicking CVD, elicit a distinct senescent phenotype compared to oxidative stress.
Stephanie E. Schneider +5 more
wiley +1 more source
Improving translational studies: lessons from rare neuromuscular diseases [PDF]
, 2015 Animal models play a key role in the development of novel treatments for human disease. This is particularly true for rare diseases – defined as disorders that affect less than 1 in 2000 people in the human population – for which, very often, there are ...
Wells, D J
core +3 more sources
Halofuginone and muscular dystrophy.
Histology and histopathology, 2011 Muscular dystrophies (MDs) include different inherited diseases that all result in progressive muscle degeneration, impaired locomotion and often premature death. The major focus of MD research has been on alleviating the primary genetic deficit - using gene therapy and myoblast-transfer approaches to promote expression of the deficient or mutated ...
Pines, Mark, Halevy, Orna
openaire +4 more sources
Engineered RNA Devices for In Vivo Targeted Therapeutics via Advanced Delivery Systems
Aggregate, EarlyView.Schematic illustration of engineered RNA devices for in vivo targeted therapeutics via advanced delivery systems. ABSTRACT Engineered RNA devices can identify disease‐specific markers and precisely regulate gene expression, which is of great significance to the development of precision medicine.
Wei Luo +6 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Accurate classification of genomic variants is crucial to ensure correct diagnosis, genetic counseling, and clinical management of monogenic inherited disorders. Variant interpretation can be hindered in populations that are significantly underrepresented in large reference genomic databases, leading to genomic healthcare inequalities. Despite
Zantasha Khalid +16 more
wiley +1 more source
Crystal structures of the human Dysferlin inner DysF domain [PDF]
, 2014 Background: Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
Cole, Ambrose R. +4 more
core +1 more source
Animal Models and Experimental Medicine, EarlyView.Deleting Col6a3 exon 3 by CRISPR in mice results in centralized nuclei consistent with a myopathy phenotype mimicking collagen VI‐associated human disease Abstract Background Most mutations in the COL6A3 gene lead to collagen VI‐related myopathies. This is due to a reduced expression or mislocalization of the COL6A3 protein.
Michel ElChoueiry +12 more
wiley +1 more source