INT95696

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Context Info
Confidence 0.68
First Reported 2001
Last Reported 2010
Negated 7
Speculated 1
Reported most in Body
Documents 130
Total Number 133
Disease Relevance 26.02
Pain Relevance 5.34

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

plasma membrane (Dmd) cytoskeleton (Dmd) nucleus (Dmd)
cytoplasm (Dmd)
Anatomy Link Frequency
muscle 26
skeletal muscle 5
retina 3
muscle fibers 3
internal 3
Dmd (Mus musculus)
Pain Link Frequency Relevance Heat
sodium channel 129 99.72 Very High Very High Very High
tetrodotoxin 214 98.72 Very High Very High Very High
Neurotransmitter 750 98.44 Very High Very High Very High
GABAergic 272 98.16 Very High Very High Very High
Pyramidal cell 136 98.16 Very High Very High Very High
Central nervous system 274 97.88 Very High Very High Very High
cerebral cortex 34 97.72 Very High Very High Very High
imagery 191 97.52 Very High Very High Very High
Neuronal nitric oxide synthase 36 97.38 Very High Very High Very High
amygdala 170 97.32 Very High Very High Very High
Disease Link Frequency Relevance Heat
Muscular Dystrophy 3272 100.00 Very High Very High Very High
Disease 292 99.62 Very High Very High Very High
Congenital Anomalies 434 99.50 Very High Very High Very High
Cognitive Disorder 408 99.24 Very High Very High Very High
Body Weight 81 99.00 Very High Very High Very High
Death 222 98.18 Very High Very High Very High
Targeted Disruption 598 97.68 Very High Very High Very High
Injury 95 97.28 Very High Very High Very High
Acquired Immune Deficiency Syndrome Or Hiv Infection 62 96.52 Very High Very High Very High
Intellectual Impairment 238 96.48 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Further analyses of these ERG waveforms suggest that aberrant dystrophin expression impairs synaptic transmission specifically between the rod and cone photoreceptor cells and their postsynaptic targets, the bipolar ON cells in the OPL [164].
Gene_expression (expression) of dystrophin in photoreceptor cells
1) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.44 Pain Relevance 0
Lack of expression of dystrophin at these sites might contribute to the behavioral defects observed in mdx mice and the mental retardation displayed by DMD patients.


Gene_expression (expression) of dystrophin associated with intellectual impairment and muscular dystrophy
2) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.53 Pain Relevance 0.26
Similarly, dystrophin and dystrobrevin are expressed in overlapping domains at the larval NMJ and in the CNS (S.P., L.G.F., J.N.N, unpublished), while dystrophin and dystroglycan have also been shown to colocalize at the postsynaptic side of the NMJ [103].
Gene_expression (expressed) of dystrophin in CNS associated with central nervous system
3) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.12 Pain Relevance 0.17
In the mammalian brain, full-length dystrophin, Dp427 is expressed at the postsynaptic membranes of hippocampal pyramidal neurons, neocortical pyramidal neurons [136], amygdala, and cerebellar Purkinje cells [133] where it colocalizes with inhibitory GABAA receptor clusters [133, 137].
Gene_expression (expressed) of Dp427 in amygdala associated with pyramidal cell and amygdala
4) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.45 Pain Relevance 0.28
These abnormalities were also observed when expression of dystroglycan or different isoforms of dystrophin (all isoforms, DLP1-3, or the smaller isoforms only) were reduced by RNA interference either in the photoreceptor axons or the glia, suggesting that both cell types are required for wild-type axon patterning.
Gene_expression (expression) of dystrophin in patterning associated with congenital anomalies
5) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.18 Pain Relevance 0
Consistent with these findings, dystrophin expression is observed at these synapses.
Gene_expression (expression) of dystrophin in synapses
6) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.51 Pain Relevance 0
1-syntrophin. d In the retina (reviewed in [155]), different dystrophin isoforms are expressed; Dp427, Dp260, Dp140, and Dp 71.
Gene_expression (expressed) of dystrophin in retina
7) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0 Pain Relevance 0
In the mammalian brain, full-length dystrophin, Dp427 is expressed at the postsynaptic membranes of hippocampal pyramidal neurons, neocortical pyramidal neurons [136], amygdala, and cerebellar Purkinje cells [133] where it colocalizes with inhibitory GABAA receptor clusters [133, 137].
Gene_expression (expressed) of dystrophin in amygdala associated with pyramidal cell and amygdala
8) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.45 Pain Relevance 0.28
Dystrophin is expressed at the sarcolemma of mammalian skeletal muscle and is also found to accumulate at the troughs of the postsynaptic membrane where it colocalizes with voltage-gated sodium channels [41].
Gene_expression (expressed) of Dystrophin in skeletal muscle associated with sodium channel
9) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0 Pain Relevance 0.12
This finding raises the possibility that there may be more patients with cognitive impairments caused by alterations in dystrophin expression or function and demonstrates the important role for dystrophin and its associated proteins in the brain (reviewed by [25]).
Gene_expression (expression) of dystrophin in brain associated with cognitive disorder
10) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.65 Pain Relevance 0.07
The short Drosophila dystrophin isoform Dp117 is also expressed in the musculature [37].
Gene_expression (expressed) of dystrophin in musculature
11) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.22 Pain Relevance 0.05
Most of these studies were done in mice older than 7 days of age at which stage both dystrophin and utrophin can be detected at the NMJ.
Gene_expression (detected) of dystrophin
12) Confidence 0.68 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.29 Pain Relevance 0
Comparison among mdx, CXMDJ, and DMD diaphragms
Gene_expression (diaphragms) of DMD in diaphragms associated with muscular dystrophy
13) Confidence 0.65 Published 2008 Journal BMC Musculoskelet Disord Section Body Doc Link PMC2257929 Disease Relevance 0.19 Pain Relevance 0
In particular, Na+ overload in mdx5cv fibers significantly contributes to cell degradation and early death.
Gene_expression (overload) of mdx5cv associated with death
14) Confidence 0.61 Published 2008 Journal The Journal of General Physiology Section Body Doc Link PMC2483333 Disease Relevance 0.53 Pain Relevance 0.32
We found that the absence of dystrophin modifies the expression level, distribution, and gating properties of Nav1.4 in skeletal muscle.
Gene_expression (expression) of dystrophin in skeletal muscle
15) Confidence 0.61 Published 2008 Journal The Journal of General Physiology Section Body Doc Link PMC2483333 Disease Relevance 0.07 Pain Relevance 0.13
The observation of an altered distribution pattern of Nav1.4 channels in mdx5cv fibers, which in itself involves important considerations, cannot fully explain the increase in Na+ influx in view of the smaller amount of the protein in sarcolemma.
Gene_expression (channels) of mdx5cv
16) Confidence 0.61 Published 2008 Journal The Journal of General Physiology Section Body Doc Link PMC2483333 Disease Relevance 0 Pain Relevance 0
The mechanisms leading to increased muscle cell death are still unclear; however, it is generally accepted that an elevated cytosolic calcium concentration occurring when muscle is stretched is an important link between the absence of dystrophin and muscle degeneration (Gailly, 2002; Ruegg et al., 2002).
Neg (absence) Gene_expression (absence) of dystrophin in muscle associated with death
17) Confidence 0.61 Published 2008 Journal The Journal of General Physiology Section Body Doc Link PMC2483333 Disease Relevance 0.47 Pain Relevance 0.06
Peculiarly, while average currents tended to be larger, the average amplitudes hint at a smaller expression level of Nav1.4 in mdx5cv as compared with C57BL/6J fibers.
Gene_expression (expression) of mdx5cv
18) Confidence 0.61 Published 2008 Journal The Journal of General Physiology Section Body Doc Link PMC2483333 Disease Relevance 0 Pain Relevance 0.04
In adult flies, progressive muscle degeneration and impaired climbing ability were observed when dystrophin or dystroglycan expression was reduced [21].
Gene_expression (expression) of dystrophin in muscle
19) Confidence 0.60 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.15 Pain Relevance 0.04
In recent years, novel gene therapy strategies, such as antisense oligonucleotide-mediated exon-skipping, have been directed toward restoring dystrophin expression in muscle fibers of DMD patients [29].
Gene_expression (expression) of dystrophin in muscle fibers associated with muscular dystrophy
20) Confidence 0.60 Published 2009 Journal Mol Neurobiol Section Body Doc Link PMC2840664 Disease Relevance 0.81 Pain Relevance 0.03

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