Results 71 to 80 of about 21,845 (197)
Insights into the Pathogenic Secondary Symptoms Caused by the Primary Loss of Dystrophin
Journal of Functional Morphology and Kinesiology, 2017 Duchenne muscular dystrophy (DMD) is an X-linked genetic disease in which the dystrophin gene is mutated, resulting in dysfunctional dystrophin protein. Without dystrophin, the dystrophin-glycoprotein complex (DGC) is unstable, leading to an increase in ...
Laura Forcina +3 more
doaj +1 more source
Small, EarlyView.A luminescent PEI/Cy5‐citrate‐functionalized carbonated apatite nanoplatform combines biocompatibility, plasmid delivery, and Cy5‐based traceability. The system enables effective in vitro gene delivery while preserving cell viability and allows real‐time in vivo fluorescence tracking of the nanocarrier.
Laura Garrido Martín +5 more
wiley +1 more source
Dystrophin-Deficient Cardiomyopathy
Journal of the American College of Cardiology, 2016 Dystrophinopathies are a group of distinct neuromuscular diseases that result from mutations in the structural cytoskeletal Dystrophin gene. Dystrophinopathies include Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD), X-linked dilated cardiomyopathy, as well as DMD and BMD female carriers.
Forum, Kamdar, Daniel J, Garry
openaire +2 more sources
A novel myopathy with autophagic vacuoles associated with biallelic variants in CLN8
Brain Pathology, EarlyView.We describe a novel adult‐onset myopathy with autophagic vacuoles and characteristic features of ceroid lipofuscinosis associated with biallelic CLN8 variants, seizures, and muscle weakness. Autophagosomal/lysosomal deposition of curvilinear, autofluorescent material containing the mitochondrial adenosine triphosphate (ATP) synthase membrane subunit c ...
Ulrika Lindgren +5 more
wiley +1 more source
Dystrophinopathy in the paravertebral muscle of adolescent idiopathic scoliosis: a prospective case-control study in China [PDF]
Asian Spine JournalStudy Design A prospective case-control study. Purpose This prospective case-control study aimed to analyze the paravertebral muscle changes in patients with adolescent idiopathic scoliosis (AIS) and determine paravertebral myopathological changes ...
Junyu Li +7 more
doaj +1 more source
A Practical Guide to Chromosome Microarray Interpretation for Paediatricians
Journal of Paediatrics and Child Health, EarlyView.ABSTRACT Introduction Chromosome microarray (CMA) is a test commonly ordered by general paediatricians. It has diagnostic yield between 10%–15% in individuals with neurodevelopmental delay, autism and/or multiple congenital abnormalities. CMA identifies copy number variants (CNV) including deletions and duplications, which may be pathogenic, variants ...
Zachary E. McPherson +10 more
wiley +1 more source
TNF-α-Induced microRNAs Control Dystrophin Expression in Becker Muscular Dystrophy
Cell Reports, 2015 The amount and distribution of dystrophin protein in myofibers and muscle is highly variable in Becker muscular dystrophy and in exon-skipping trials for Duchenne muscular dystrophy. Here, we investigate a molecular basis for this variability.
Alyson A. Fiorillo +13 more
doaj +1 more source
One day of environment‐induced heat stress causes injury to the murine kidney
Experimental Physiology, EarlyView.Abstract Environment‐induced heat stress (EIHS) results from sustained body temperature elevation owing to prolonged exposure to heat and humidity. We hypothesized that EIHS would cause kidney injury and cellular dysfunction. To test this hypothesis, female C57 mice were exposed to EIHS (n = 14; 37.6°C, 42.0% relative humidity) or thermoneutral (TN ...
Melissa Roths +3 more
wiley +1 more source
Senolytics and exercise: Dual modalities for rejuvenating muscle
The Journal of Physiology, EarlyView.Abstract figure legend The role of senolytics on the heart and skeletal muscle. Senescent cell burden increases with ageing, disuse and disease. The senolytics dasatinib+quercetin (D+Q), navitoclax and fisetin, as well as exercise, eliminate senescent cells, reducing senescent cell burden and their senescence‐associated secretory phenotype (SASP ...
Zeynep Elif Yesilyurt‐Dirican +4 more
wiley +1 more source
Physiological ReportsThe dystrophin protein has well‐characterized roles in force transmission and maintaining membrane integrity during muscle contraction. Studies have reported decreased expression of dystrophin in atrophying muscles during wasting conditions, and that ...
Kristy Swiderski +8 more
doaj +1 more source