Results 11 to 20 of about 4,506 (155)
Circulating Biomarkers in Muscular Dystrophies: Disease and Therapy Monitoring
Molecular Therapy: Methods & Clinical Development, 2020 Muscular dystrophies are a group of inherited disorders that primarily affect the muscle tissues. Across the muscular dystrophies, symptoms commonly compromise the quality of life in all areas of functioning.
Andrie Koutsoulidou +1 more
doaj +1 more source
Hippo signaling pathway is altered in Duchenne muscular dystrophy. [PDF]
PLoS ONE, 2018 Hippo signaling pathway is considered a key regulator of tissue homeostasis, cell proliferation, apoptosis and it is involved in cancer development. In skeletal muscle, YAP, a downstream target of the Hippo pathway, is an important player in myoblast ...
Gian Luca Vita +10 more
doaj +1 more source
Rhabdomyosarcomas in aging A/J mice. [PDF]
PLoS ONE, 2011 Rhabdomyosarcomas (RSCs) are skeletal muscle neoplasms found in humans and domestic mammals. The A/J inbred strain developed a high frequency (between 70-80%) of adult pleomorphic type (APT) RSC at >20 months of age while BALB/cByJ also develop RSC but ...
Roger B Sher +3 more
doaj +1 more source
The challenging diagnosis of dysferlinopathy – a case report [PDF]
Romanian Journal of Neurology, 2021 Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc +4 more
doaj +1 more source
Functions of Vertebrate Ferlins
Cells, 2020 Ferlins are multiple-C2-domain proteins involved in Ca2+-triggered membrane dynamics within the secretory, endocytic and lysosomal pathways. In bony vertebrates there are six ferlin genes encoding, in humans, dysferlin, otoferlin, myoferlin, Fer1L5 and 6
Anna V. Bulankina, Sven Thoms
doaj +1 more source
Different outcome of sarcoglycan missense mutation between human and mouse [PDF]
, 2018 Sarcoglycanopathies are rare autosomic limb girdle muscular dystrophies caused by mutations in one of the genes coding for sarcoglycan (α, β, δ, and γ-sarcoglycans).
Bourg, Nathalie +6 more
core +10 more sources
Molecular Therapy: Methods & Clinical Development, 2021 Biallelic mutations in the dysferlin gene cause limb-girdle muscular dystrophy 2B or Miyoshi distal myopathy. We found that nonsense mutations are the most common mutation type among Korean patients with dysferlinopathy; more than half of the patients ...
Kyowon Seo +4 more
doaj +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
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
core +1 more source
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli +49 more
core +1 more source