|
Limb-girdle muscular dystrophy, type 2E
|
0.960 |
Biomarker
|
disease |
BEFREE |
β-Sarcoglycan gene transfer decreases fibrosis and restores force in LGMD2E mice.
|
26214262 |
2016 |
|
Limb-girdle muscular dystrophy, type 2E
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Genomic screening for beta-sarcoglycan gene mutations: missense mutations may cause severe limb-girdle muscular dystrophy type 2E (LGMD 2E).
|
8968749 |
1996 |
|
Limb-girdle muscular dystrophy, type 2E
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Further analysis on the muscle biopsy revealed homozygous beta-sarcoglycan gene mutation (S114F), consistent with the limb-girdle muscular dystrophy type 2E (LGME 2E).
|
20071171 |
2010 |
|
Limb-girdle muscular dystrophy, type 2E
|
0.960 |
Biomarker
|
disease |
BEFREE |
In this well-defined model of LGMD2E, we have demonstrated the efficacy and safety of systemic scAAV.hSGCB delivery, and these findings have established a path for clinically beneficial AAV-mediated gene therapy for LGMD2E.
|
28284983 |
2017 |
|
Limb-girdle muscular dystrophy, type 2E
|
0.960 |
Biomarker
|
disease |
BEFREE |
Eight genes are mapped for the AR-LGMDs; they are: LGMD2A (CAPN3) at 15q, LGMD2B (dysferlin) at 2p, LGMD2C (gamma-SG) at 13q, LGMD2D (alpha-SG) at 17q, LGMD2E (beta-SG) at 4q, LGMD2F (6-SG) at 5q, LGMD2G at 17q, and more recently LGMD2H at 9q.
|
10069710 |
1999 |
|
Limb-girdle muscular dystrophy, type 2E
|
0.960 |
GeneticVariation
|
disease |
BEFREE |
Limb-girdle muscular dystrophy type 2E (LGMD2E) is caused by mutations in the β-sarcoglycan gene, which is expressed in skeletal, cardiac, and smooth muscles.
|
29476695 |
2018 |
|
Cardiomyopathies
|
0.420 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle muscular dystrophy type 2E (LGMD2E), resulting from mutations in β-sarcoglycan (SGCB), is a progressive dystrophy with deteriorating muscle function, respiratory failure, and cardiomyopathy in 50% or more of LGMD2E patients.
|
28284983 |
2017 |
|
Cardiomyopathies
|
0.420 |
Biomarker
|
group |
BEFREE |
β-Sarcoglycan-deficient (Sgcb-null) mice develop severe muscular dystrophy and cardiomyopathy with focal areas of necrosis.
|
29476695 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Limb-girdle Muscular Dystrophy with New Mutation in Sarcoglycan Beta Gene: A Case Report.
|
30788312 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
We examined muscle biopsies from nine DMD patients, aged 2-8 years; 14 BMD (Becker muscular dystrophy) patients (nine aged 1-5 years; five aged 30-37 years); four MDC1A patients (aged 2-7 years); six dysferlin-deficient patients (aged 19-53 years) with mutation ascertained in two, and normal expression of proteins related to limb girdle muscular dystrophies in the others; 10 sarcoglycan-deficient patients: seven with alpha-sarcoglycan mutation, two with beta-sarcoglycan mutation and one with gamma-sarcoglycan mutation (five aged 8-15 years; five aged 26-43 years); and nine children (aged 1-6 years) and 12 adults (aged 16-61 years) suspected of neuromuscular disease, but who had normal muscle on biopsy.
|
16183658 |
2005 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Thus, the beta-sarcoglycan gene is the fifth locus identified (LGMD2E) that is involved in autosomal recessive limb-girdle muscular dystrophy.
|
7581448 |
1995 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Truncating mutations in the 43 kDa beta-sarcoglycan gene (LGMD 2E) were originally identified in a sporadic case of Duchenne-like muscular dystrophy, and a common missense mutation (T151R) was identified independently in Indiana Amish pedigrees with a milder form of LGMD.
|
8968749 |
1996 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
We also measured urinary isoxanthopterin in wildtype mice and a number of dystrophic mouse models; the DMD mouse model (mdx), mdx mice overexpressing a variety of transgenic miniaturized and chimeric skeletal muscle-specific dystrophins and utrophin and the β-sarcoglycan deficient (Scgb<sup>-/-</sup>) mouse which represents type 2E human limb-girdle muscular dystrophy.
|
30312761 |
2018 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Recently six different loci for LGMD have been reported: 5q (LGMD1A), 15q (LGMD2A), 2p (LGMD2B), 13q (LGMD2C), 17q (LGMD2D) and 4p-14-q21.2 (LGMD2E) respectively.
|
8899051 |
1996 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
Biomarker
|
group |
BEFREE |
Pathogenic mutations in the four sarcoglycan genes, designated SGCA, SGCB, SGCD and SGCG, are responsible for a subgroup of autosomal, recessive limb-girdle muscular dystrophies (LGMD 2C-F), also called sarcoglycanopathies.
|
19056483 |
2009 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
To determine the clinical spectrum of limb-girdle muscular dystrophy 2E (LGMD2E) and to investigate whether genetic or biochemical features can predict the phenotype of the disease.
|
25862795 |
2015 |
|
Muscular Dystrophies, Limb-Girdle
|
0.400 |
GeneticVariation
|
group |
BEFREE |
Among these 105 patients, the most common subtypes were LGMD2B in 52 (49.5%), LGMD2A in 26 (24.8%) and LGMD 2D in eight (7.6%), followed by LGMD1B in seven (6.7%), LGMD1E in four (3.8%), LGMD2I in three (2.9%), and LGMD2E, 2F, 2H, 2K, 2L in one patient (1.0%), respectively.
|
28403181 |
2017 |
|
Muscular Dystrophy
|
0.340 |
Biomarker
|
disease |
BEFREE |
Prenatal diagnosis in a family affected with beta-sarcoglycan muscular dystrophy.
|
10407854 |
1999 |
|
Muscular Dystrophy
|
0.340 |
GeneticVariation
|
disease |
BEFREE |
Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex.
|
7581449 |
1995 |
|
Muscular Dystrophy
|
0.340 |
Biomarker
|
disease |
BEFREE |
To develop an animal model of beta-sarcoglycanopathy and to clarify the role of beta-sarcoglycan in the pathogenesis of the muscle degeneration in vivo, we developed beta-sarcoglycan-deficient mice using a gene targeting technique. beta-Sarcoglycan-deficient mice (BSG(-)(/-)mice) exhibited progressive muscular dystrophy with extensive degeneration and regeneration.
|
10441321 |
1999 |
|
Muscular Dystrophy
|
0.340 |
Biomarker
|
disease |
BEFREE |
Immunohistochemical analysis of skeletal muscle biopsies from patients with LGMD2C, LGMD2D, and LGMD2E demonstrated a reduction of the entire sarcoglycan complex in these muscular dystrophies.
|
8943294 |
1996 |
|
Beta-sarcoglycanopathy
|
0.320 |
GeneticVariation
|
disease |
BEFREE |
This study expands the spectrum of phenotype in β-sarcoglycanopathy and provides strong evidence that severity of clinical involvement may be predicted by SGCB gene mutation and sarcoglycan protein expression.
|
25862795 |
2015 |
|
Beta-sarcoglycanopathy
|
0.320 |
Biomarker
|
disease |
BEFREE |
To develop an animal model of beta-sarcoglycanopathy and to clarify the role of beta-sarcoglycan in the pathogenesis of the muscle degeneration in vivo, we developed beta-sarcoglycan-deficient mice using a gene targeting technique. beta-Sarcoglycan-deficient mice (BSG(-)(/-)mice) exhibited progressive muscular dystrophy with extensive degeneration and regeneration.
|
10441321 |
1999 |
|
Malignant neoplasm of stomach
|
0.100 |
Biomarker
|
disease |
BEFREE |
In vitro, GC cells were infected with H. pyloriCagA+/P+ to investigate whether it was involved in the epithelial‑mesenchymal transition (EMT) of SGC‑7901 cells using immunofluorescence and western blot analysis.
|
30569124 |
2019 |
|
Malignant neoplasm of stomach
|
0.100 |
Biomarker
|
disease |
BEFREE |
The present study aimed to examine the anticancer effects of caffeine on gastric cancer (GC) cells (MGC‑803 and SGC‑7901) in vitro, and to determine whether the apoptosis‑related caspase‑9/-3 pathway is associated with these effects.
|
28677810 |
2017 |