Results 101 to 110 of about 343,838 (345)
An ex vivo gene therapy approach to treat muscular dystrophy using inducible pluripotent stem cells. [PDF]
, 2013 Duchenne muscular dystrophy is a progressive and incurable neuromuscular disease caused by genetic and biochemical defects of the dystrophin-glycoprotein complex.
Borges, Luciene +11 more
core +2 more sources
SIRT1: A Novel Target for the Treatment of Muscular Dystrophies
Oxidative Medicine and Cellular Longevity, 2016 Muscular dystrophies are inherited myogenic disorders accompanied by progressive skeletal muscle weakness and degeneration. Duchenne muscular dystrophy (DMD) is the most common and severe form of muscular dystrophy and is caused by mutations in the gene ...
A. Kuno, Y. Horio
semanticscholar +1 more source
Swallowing and Communication in Cockayne Syndrome: Clinical Characteristics and Management
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Cockayne syndrome (CS) is an ultrarare genetic disorder associated with genes encoding proteins involved in DNA repair. The clinical course of CS involves neurodevelopmental and neurodegenerative features, including swallowing and communication impairments.
Abigail M. Spoden +2 more
wiley +1 more source
Necroptosis mediates myofibre death in dystrophin-deficient mice
Nature Communications, 2018 Muscular dystrophies are characterised by extensive myofibre cell death. Here Morgan et al. show that RIPK3-mediated necroptosis contributes to myofibre cell death in Duchenne muscular dystrophy, and that RIPK3 deletion protects dystrophic mice against ...
Jennifer E. Morgan +12 more
doaj +1 more source
Biglycan : a multivalent proteoglycan providing structure and signals [PDF]
, 2013 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
Animal Models and Experimental Medicine, EarlyView.The pathogenesis of stress urinary incontinence (SUI) is intimately associated with injury to the external urethral sphincter (EUS). In this study, we established an SUI model induced by double vaginal distension and demonstrated that metformin treatment activated the AMPK signaling in the EUS tissue.
Yuting Xu +7 more
wiley +1 more source
Animal Models and Experimental Medicine, EarlyView.We applied quantitative MRI of the lower limb and automated home‐cage phenotyping to a mouse model of calpainopathy to detect early disease changes. At 15 months, calpain 3‐deficient mice showed increased water T2 values correlating with immune cell infiltration in the soleus and gastrocnemius muscles, while assessment of motor activity revealed only ...
Nicolina Südkamp +12 more
wiley +1 more source
Nitric oxide synthase in skeletal muscle fibres of patients with type 2 diabetes [PDF]
, 2012 Muscle-derived nitric oxide (NO) mediates fundamental physiological actions on skeletal muscle including glucose uptake into muscle cells. Recently, we have shown that the altered glucose metabolism in skeletal muscle of patients with type 2 diabetes ...
Andreas Oberbach +5 more
core +1 more source
Can human pluripotent stem cell-derived cardiomyocytes advance understanding of muscular dystrophies? [PDF]
, 2016 Muscular dystrophies (MDs) are clinically and molecularly a highly heterogeneous group of single-gene disorders that primarily affect striated muscles.
Denning, Chris +2 more
core +4 more sources
Annals of Neurology, EarlyView.Objective Targeted therapies for facioscapulohumeral muscular dystrophy (FSHD) are progressing through clinical trials. Electrical impedance myography (EIM) provides a noninvasive biomarker of muscle composition that may be valuable especially in early phase trials. This study evaluated EIM data from a multicenter FSHD cohort over 24 months.
Karlien Mul +15 more
wiley +1 more source