Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Heydemann and colleagues implicate dimorphic variation in latent TGF-beta-binding protein 4 (LTBP4), a regulator of TGF-beta bioavailability and activation, as a modifier of muscular dystrophy in gamma-sarcoglycan-deficient mice.
|
20101091 |
2010 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Secondary coronary artery vasospasm promotes cardiomyopathy progression.
|
14982859 |
2004 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in gamma-sarcoglycan-deficient mice.
|
12609501 |
2003 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Pathological analysis of muscle hypertrophy and degeneration in muscular dystrophy in gamma-sarcoglycan-deficient mice.
|
12609501 |
2003 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
This is the first demonstration that membrane expression of a mutant sarcoglycan-sarcospan complex is insufficient in preventing muscular dystrophy and cardiomyopathy and that the C-terminus of gamma-sarcoglycan is critical for the functioning of the entire sarcoglycan-sarcospan complex.
|
10942431 |
2000 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
The skeletal muscles of mice lacking gamma-sarcoglycan (gsg-/- mice) differ from the animal models that have been evaluated to date in that the severity of the skeletal muscle pathology is much greater and more representative of that of humans with muscular dystrophy.
|
10933922 |
2000 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
BEFREE |
Next, we provide evidence for the association of gamma-sarcoglycan with the sarcoglycan-sarcospan complex by biochemical analysis and comparison among animal models for muscular dystrophy.
|
10993904 |
2000 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Mice lacking gamma-sarcoglycan develop progressive muscular dystrophy similar to human muscular dystrophy.
|
10485893 |
1999 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
MGD |
Gamma-sarcoglycan deficiency leads to muscle membrane defects and apoptosis independent of dystrophin.
|
9732288 |
1998 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
LGMD 2C, caused by mutations in gamma-sarcoglycan, is prevalent in northern Africa, especially in Tunisia, where this type of muscular dystrophy was originally described.
|
9631401 |
1998 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2C (LGMD2C) is an autosomal recessive muscular dystrophy with primary gamma-sarcoglycan deficiency, generally associated with a severe clinical course. gamma-sarcoglycan, a 35kDa dystrophin-associated protein, is encoded by a single gene on chromosome 13q12.
|
9781048 |
1998 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
To investigate whether gamma-sarcoglycan gene mutations cause autosomal recessive muscular dystrophy in other populations, we studied 50 muscular dystrophy patients from the United States and Italy.
|
8923014 |
1996 |
Muscular Dystrophy
|
0.400 |
AlteredExpression
|
disease |
BEFREE |
Specific antibodies were produced against a gamma-sarcoglycan peptide and used to examine the expression of gamma-sarcoglycan in skeletal muscle of patients with severe childhood autosomal muscular dystrophy linked to chromosome 13q12 (SCARMD).
|
8641426 |
1996 |
Muscular Dystrophy
|
0.400 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the dystrophin-associated protein gamma-sarcoglycan in chromosome 13 muscular dystrophy.
|
7481775 |
1995 |
Muscular Dystrophy
|
0.400 |
Biomarker
|
disease |
HPO |
|
|
|