Results 21 to 30 of about 343,838 (345)
A Role for Caveolin-3 in the Pathogenesis of Muscular Dystrophies
International Journal of Molecular Sciences, 2020 Caveolae are the cholesterol-rich small invaginations of the plasma membrane present in many cell types including adipocytes, endothelial cells, epithelial cells, fibroblasts, smooth muscles, skeletal muscles and cardiac muscles.
B. S. Pradhan, T. Prószyński
semanticscholar +1 more source
Implications of notch signaling in duchenne muscular dystrophy
Frontiers in Physiology, 2022 This review focuses upon the implications of the Notch signaling pathway in muscular dystrophies, particularly Duchenne muscular dystrophy (DMD): a pervasive and catastrophic condition concerned with skeletal muscle degeneration.
Lily Den Hartog, Atsushi Asakura
doaj +1 more source
The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]
, 2020 Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan +2 more
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Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
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Skeletal muscle in health and disease
Disease Models & Mechanisms, 2020 Skeletal muscle fibres are multinucleated cells that contain postmitotic nuclei (i.e. they are no longer able to divide) and perform muscle contraction.
Jennifer Morgan, Terence Partridge
doaj +1 more source
Stem Cell Research, 2022 LAMA2-related congenital muscular dystrophy (MDC1A), the most commonly recognized type of congenital muscular dystrophies, is a severe neonatal onset muscle disease caused by recessive mutations in the LAMA2 gene.
Qiang Rui +5 more
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A Poglut1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss [PDF]
, 2016 Skeletal muscle regeneration by muscle satellite cells is a physiological mechanism activated upon muscle damage and regulated by Notch signaling. In a family with autosomal recessive limbgirdle muscular dystrophy, we identified a missense mutation in ...
Cabrera Serrano, Macarena +5 more
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Psychosis in a Patient with Muscular Dystrophy : Case Report and Literature Review
European Psychiatry, 2023 Introduction Knowledge about muscular dystrophies and in particular X-linked inherited disorders such as Duchenne and Becker Muscular Dystrophy has been gradually acquired as more research studies have been conducted to better understand the ...
O. Ali, H. Raai
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Facioscapulohumeral Muscular Dystrophy [PDF]
Neurologic Clinics, 2014 This article describes the clinical characteristics, diagnosis, molecular pathogenesis, and treatment of facioscapulohumeral muscular dystrophy (FSHD).FSHD comprises two genetically distinct types that converge on a common downstream pathway of the expression of the toxic protein DUX4.
Jeffrey, Statland, Rabi, Tawil
openaire +4 more sources
Cytokines and chemokines as regulators of skeletal muscle inflammation: presenting the case of Duchenne muscular dystrophy [PDF]
, 2013 Duchenne muscular dystrophy is a severe inherited muscle disease that affects 1 in 3500 boys worldwide. Infiltration of skeletal muscle by inflammatory cells is an important facet of disease pathophysiology and is strongly associated with disease ...
De Bleecker, Jan, De Paepe, Boel
core +3 more sources