Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.070 | Biomarker | disease | BEFREE | In order to investigate the mechanisms underlying sarcospan 'rescue' of muscular dystrophy, we created double-knockout mice to test the contributions of utrophin or α7 integrin. | 25504048 | 2015 | ||||
|
0.070 | GeneticVariation | disease | BEFREE | Contrary to expectations, mice homozygous for the H77C-encoding allele expressed both this mutant alpha-sarcoglycan and the other components of the sarcoglycan-sarcospan complex in striated muscle, and did not develop muscular dystrophy. | 18252746 | 2008 | ||||
|
0.070 | AlteredExpression | disease | BEFREE | Expression profiles of sarcospan in muscles with muscular dystrophies are scarcely reported. | 18830929 | 2008 | ||||
|
0.070 | AlteredExpression | disease | LHGDN | Expression profiles of sarcospan in muscles with muscular dystrophies are scarcely reported. | 18830929 | 2008 | ||||
|
0.070 | Biomarker | disease | BEFREE | We show that sarcospan (SSPN), a unique tetraspanin-like component of the DGC, ameliorates muscular dystrophy in dystrophin-deficient mdx mice. | 18981229 | 2008 | ||||
|
0.070 | 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 | ||||
|
0.070 | 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 | ||||
|
0.070 | Biomarker | disease | BEFREE | Our data suggest that loss of the sarcoglycan complex and sarcospan alone is sufficient to cause muscular dystrophy, that beta-sarcoglycan is an important protein for formation of the sarcoglycan complex associated with sarcospan and that the role of the sarcoglycan complex and sarcospan may be to strengthen the dystrophin axis connecting the basement membrane with the cytoskeleton. | 10441321 | 1999 |