|
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 |
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 |
Membrane repair defects in muscular dystrophy are linked to altered interaction between MG53, caveolin-3, and dysferlin.
|
19380584 |
2009 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Dysferlin-deficient muscular dystrophy features amyloidosis.
|
18306167 |
2008 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
LHGDN |
Cytoplasmic localization of dysferlin correlates with fiber regeneration in a subset of muscular dystrophy patients.
|
17897828 |
2008 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
LVhMyoD transduced cells readily formed striated, multinucleate myotubes expressing a wide range of genes associated with muscular dystrophy (dystrophin, dysferlin, sarcoglycans, caveolin-3) and congenital myopathy (nebulin, actin, desmin, tropomyosin, troponin).
|
17303423 |
2007 |
|
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 |
GeneticVariation
|
disease |
BEFREE |
To describe the phenotypic spectrum of dysferlin (DYSF) gene mutations (which cause dysferlinopathies, autosomal recessive muscular dystrophies) in patients with a dysferlin protein deficiency.
|
17698709 |
2007 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
These results add to the existing evidence that cell membrane repair defect may be responsible for MM-type muscular dystrophy and indicate that a previously unsuspected genetic lesion that affects cell membrane repair pathway is responsible for the disease in the non-dysferlin MM patients.
|
17132147 |
2007 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin gene cause several types of muscular dystrophy in humans, including the limb-girdle muscular dystrophy type 2B and the distal muscular dystrophy of Miyoshi.
|
16302276 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin gene cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy and limb-girdle muscular dystrophy type 2B.
|
16023782 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Novel sequence variants in dysferlin-deficient muscular dystrophy leading to mRNA decay and possible C2-domain misfolding.
|
16705711 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in dysferlin cause a type of muscular dystrophy known as dysferlinopathy.
|
16608842 |
2006 |
|
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dysferlin (DYSF) gene cause 3 different phenotypes of muscular dystrophies: Miyoshi myopathy, limb-girdle muscular dystrophy type 2B, and distal anterior compartment myopathy.
|
16087766 |
2005 |
|
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 |
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 |
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 |
Dysferlin and the plasma membrane repair in muscular dystrophy.
|
15066638 |
2004 |
|
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
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 |
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 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the skeletal muscle gene dysferlin cause two autosomal recessive forms of muscular dystrophy: Miyoshi myopathy (MM) and limb girdle muscular dystrophy type 2B (LGMD2B).
|
11468312 |
2001 |
|
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 |