|
Muscular Dystrophy
|
0.400 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
A proteomics screen of human placental microvillous syncytiotrophoblasts (STBs) revealed the expression of dysferlin (DYSF), a plasma membrane repair protein associated with certain muscular dystrophies.
|
17554076 |
2007 |
|
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
We studied dysferlin expression in a total of 176 patients, from 166 LGMD families: 12 LGMD2B patients, 70 with other known forms of muscular dystrophies (LGMD2A, sarcoglycanopathies, LGMD2G), in an attempt to assess the effect of the primary gene-product deficiency on dysferlin.
|
11665864 |
2001 |
|
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 |
AlteredExpression
|
disease |
BEFREE |
Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study.
|
14512171 |
2003 |
|
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
LHGDN |
Muscle inflammation and MHC class I up-regulation in muscular dystrophy with lack of dysferlin: an immunopathological study.
|
14512171 |
2003 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin-deficient muscular dystrophy features amyloidosis.
|
18306167 |
2008 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Here we show that dysferlin-null mice maintain a functional dystrophin-glycoprotein complex but nevertheless develop a progressive muscular dystrophy.
|
12736685 |
2003 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Dysferlin deletion in SJL mice (SJL-Dysf) defines a natural model for limb girdle muscular dystrophy 2B.
|
10508505 |
1999 |
|
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 |
The proposed name 'dysferlin' combines the role of the gene in producing muscular dystrophy with its C. elegans homology.
|
9731527 |
1998 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
In summary, the restoration of dysferlin in skeletal muscle fibers is sufficient to rescue the MD in Dysf-deficient mice, although its mild overexpression does not appear to functionally enhance membrane repair in other models of MD.
|
19834057 |
2009 |
|
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 |
Lack of dysferlin at this critical time may contribute to the pattern of muscle involvement that develops later, with the onset of a muscular dystrophy primarily affecting proximal or distal muscles.
|
10196375 |
1999 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin and muscular dystrophy.
|
11098285 |
2000 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Our findings indicate that muscle membrane disruption and myofiber degeneration in dysferlinopathy were directly mediated by the loss of dysferlin via a new pathogenic mechanism in muscular dystrophies.
|
15254015 |
2004 |
|
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 |
Biomarker
|
disease |
HPO |
|
|
|
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
LHGDN |
Mutation finding in patients with dysferlin deficiency and role of the dysferlin interacting proteins annexin A1 and A2 in muscular dystrophies.
|
16100712 |
2005 |
|
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 |
New aspects on patients affected by dysferlin deficient muscular dystrophy.
|
19528035 |
2010 |
|
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 |
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 |
Biomarker
|
disease |
BEFREE |
Dysferlin is a component of that system and absence of dysferlin causes muscular dystrophy (dysferlinopathy) characterized by adult onset muscle weakness, high serum creatine kinase levels and a prominent inflammatory infiltrate.
|
19286669 |
2009 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin is a surface membrane protein in skeletal muscle whose deficiency causes distal and proximal, recessively inherited, forms of muscular dystrophy designated Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B), respectively.
|
11532985 |
2001 |