|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
The NebΔ163-165 mouse model emphasizes that nebulin's C-terminus is necessary for proper sarcomeric development and shows that its loss is sufficient to induce myopathy.
|
30689900 |
2019 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Myopathies and muscular dystrophies (M-MDs) are genetically heterogeneous diseases, with >100 identified genes, including the giant and complex titin (TTN) and nebulin (NEB) genes.
|
29792937 |
2018 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
The need for world-wide Reference Centres to meticulously curate polymorphisms and mutations within a particular gene is becoming increasingly apparent, particularly for interpretation of variants in the large genes which cause early-onset myopathies: NEB, RYR1 and TTN.
|
27519468 |
2017 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Mutations in the gene encoding nebulin (NEB) are known to cause several types of congenital myopathy including recessive nemaline myopathy and distal nebulin myopathy.
|
26562614 |
2016 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
Whole body muscle MRI showed a muscle involvement as previously described in nebulin-associated myopathies.
|
25740301 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutations in at least 7 genes, including nebulin gene (NEB), proved to be responsible for this muscle disease.
|
24056153 |
2015 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Mutation update: the spectra of nebulin variants and associated myopathies.
|
25205138 |
2014 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
This case illustrates that NEB mutations can cause childhood onset distal NM, with additional cores on muscle biopsy and proves the diagnostic utility of NGS for myopathies, particularly when large genes are implicated.
|
23443021 |
2013 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
BEFREE |
These findings provide a scientific basis for differential therapeutics aimed at restoring contractile performance in patients with TPM3-based versus NEB-based myopathy.
|
21357678 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Disrupted myosin cross-bridge cycling kinetics triggers muscle weakness in nebulin-related myopathy.
|
21350120 |
2011 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Expression of the desmin-E245D mutant in myocytes displaces endogenous desmin and C-terminal nebulin from the Z-discs with a concomitant increase in the formation of intracellular aggregates, reminiscent of a major histological hallmark of desmin-related myopathies.
|
19005210 |
2009 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
Also examined are novel findings indicating that nebulin is actually a multifunctional filament system, perhaps playing roles in signal transduction, contractile regulation, and myofibril force generation; these ideas are especially intriguing given the growing number of mutations in this giant molecule that are associated with human myopathies.
|
12837582 |
2003 |
|
Myopathy
|
0.200 |
GeneticVariation
|
group |
BEFREE |
In the mouse, the genes for the structural components of the myofibril titin and nebulin, Ttn and Neb, map to proximal Chr 2, as does the gene for a muscle disease, "muscular dystrophy with myositis," mdm.
|
8307566 |
1993 |
|
Myopathy
|
0.200 |
Biomarker
|
group |
HPO |
|
|
|