Results 81 to 90 of about 60,007 (250)
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
The Pan African Medical Journal, 2014 Duchenne muscular dystrophy is a progressive genetic disease with no cure at present. Children suffering from this disease eventually become wheelchair bound and die in their late teens.
Kelechi Kenneth Odinaka +1 more
doaj +1 more source
Nitric oxide regulates skeletal muscle fatigue, fiber type, microtubule organization, and mitochondrial ATP synthesis efficiency through cGMP-dependent mechanisms [PDF]
, 2016 Aim: Skeletal muscle nitric oxide–cyclic guanosine monophosphate (NO-cGMP) pathways are impaired in Duchenne and Becker muscular dystrophy partly because of reduced nNOSμ and soluble guanylate cyclase (GC) activity.
Balke, Jordan E +8 more
core +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
BMC Surgery, 2004 Background Clinical characteristics and complications of Duchenne muscular dystrophy caused by skeletal and cardiac muscle degeneration are well known. Gastro-intestinal involvement has also been recognised in these patients.
Wever Jan +4 more
doaj
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
Phytotherapy Research, EarlyView.Doxorubicin induces cardiac and skeletal muscle atrophy by upregulating E3 ubiquitin ligases, inhibiting myogenic regulatory factors, and activating necroptosis. Cardiac atrophy can further exacerbate cardiotoxicity. 6‐Shogaol negatively regulates these processes and attenuates doxorubicin‐induced cardiac and skeletal muscle atrophy.
Xipeng Sun +5 more
wiley +1 more source
International Journal of Neonatal Screening, 2018 Duchenne muscular dystrophy (DMD/Duchenne) is one of the ten most severe and common pediatric genetic diseases and affects an estimated 1 in every 5000 male births.
Michele A. Lloyd-Puryear +9 more
doaj +1 more source
Determination of qPCR Reference Genes Suitable for Normalizing Gene Expression in a Canine Model of Duchenne Muscular Dystrophy [PDF]
Background:Dogs with dystrophin-deficient muscular dystrophy are valuable models of the equivalent human disease, Duchenne Muscular Dystrophy (DMD): unlike the mdx mouse, these animals present a disease severity and progression that closely matches that ...
Aartsma-Rus +50 more
core +1 more source
Revertant fibres and dystrophin traces in Duchenne muscular dystrophy: Implication for clinical trials [PDF]
, 2010 Duchenne muscular dystrophy (DMD) is characterised by the absence of dystrophin in muscle biopsies, although residual dystrophin can be present, either as dystrophin-positive (revertant) fibres or traces.
Arechavala-Gomeza, V +12 more
core +1 more source