Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the DYSF gene cause clinically distinct forms of muscular dystrophies.
|
31218594 |
2019 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
In the absence of dysferlin, skeletal muscle cells fail to reseal properly after injury, resulting in slow progress of the dysferlinopathy muscular dystrophy (MD).
|
29771357 |
2018 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Membrane Stabilization by Modified Steroid Offers a Potential Therapy for Muscular Dystrophy Due to Dysferlin Deficit.
|
30166241 |
2018 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This approach has also been explored in several other genetic disorders, including laminin α2 chain-deficient congenital muscular dystrophy, dysferlin-deficient muscular dystrophy (e.g., Miyoshi myopathy and limb-girdle muscular dystrophy type 2B), sarcoglycanopathy (limb-girdle muscular dystrophy type 2C), and Fukuyama congenital muscular dystrophy.
|
29067661 |
2018 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin mediates membrane tubulation and links T-tubule biogenesis to muscular dystrophy.
|
28104817 |
2017 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin is a large transmembrane protein that plays a key role in cell membrane repair and underlies a recessive form of inherited muscular dystrophy.
|
28904177 |
2017 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These findings identify that mitochondrial deficit in muscular dystrophy compromises the repair of injured myofibers and show that this repair mechanism is distinct from and complimentary to the dysferlin-mediated repair of injured myofibers.
|
27834955 |
2017 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The phenotypic overlap of ANO5 myopathies with dysferlin-associated muscular dystrophies has inspired the hypothesis that ANO5, like dysferlin, may be involved in the repair of muscle membranes following injury.
|
26911675 |
2016 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene are linked to a group of muscular dystrophies known as dysferlinopathies.
|
27349407 |
2016 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin, the first protein linked with the cell membrane repair mechanism, causes a group of muscular dystrophies called dysferlinopathies.
|
24438169 |
2014 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Proteasome inhibitors increase missense mutated dysferlin in patients with muscular dystrophy.
|
25143362 |
2014 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Comparing clinical data and muscle imaging of DYSF and ANO5 related muscular dystrophies.
|
25176504 |
2014 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recessive mutations in ANO5 cause primary skeletal muscle disorders (limb-girdle muscular dystrophy 2L and distal muscular dystrophy), which are phenotypically similar to dysferlinopathy, a muscular dystrophy due to dysferlin-encoding gene (DYSF) mutations.
|
23663589 |
2013 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Muscular dystrophy in dysferlin-deficient mouse models.
|
23473732 |
2013 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Dysferlin is mutated in a group of muscular dystrophies commonly referred to as dysferlinopathies.
|
23558685 |
2013 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene are involved in two autosomal recessive muscular dystrophies: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B.
|
24028392 |
2013 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recessive loss-of-function mutations in dysferlin lead to muscular dystrophies, for which no treatment is currently available.
|
22736764 |
2012 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin cause an inherited muscular dystrophy because of defective membrane repair.
|
21412170 |
2011 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
|
21522182 |
2011 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Recently, it was reported that a mutation in the dysferlin gene and/or dysferlin deficiency causes proximal and distal forms of muscular dystrophy, which are known by the term dysferlinopathy.
|
20667157 |
2010 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Furthermore, genetic disruption of the central component (C3) of the complement system ameliorated muscle pathology in dysferlin-deficient mice but had no significant beneficial effect in a genetically distinct model of muscular dystrophy, mdx mice.
|
21060153 |
2010 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
New aspects on patients affected by dysferlin deficient muscular dystrophy.
|
19528035 |
2010 |
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Dysferlin mutations cause inherited muscular dystrophy, and dysferlin also shows abnormal plasma membrane expression in other forms of muscular dystrophy.
|
20595382 |
2010 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Effects of rituximab in two patients with dysferlin-deficient muscular dystrophy.
|
20618995 |
2010 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Furthermore, genetic disruption of the central component (C3) of the complement system ameliorated muscle pathology in dysferlin-deficient mice but had no significant beneficial effect in a genetically distinct model of muscular dystrophy, mdx mice.
|
21060153 |
2010 |