INT312637

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Context Info
Confidence 0.42
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 3
Disease Relevance 1.03
Pain Relevance 0

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 (Musk, Dok7) lipid binding (Dok7) signal transduction (Musk)
kinase activity (Musk)
Anatomy Link Frequency
myotubes 2
Musk (Mus musculus)
Dok7 (Mus musculus)
Pain Link Frequency Relevance Heat
Action potential 3 38.24 Quite Low
anesthesia 3 5.00 Very Low Very Low Very Low
imagery 3 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Congenital Myasthenic Syndromes 66 97.40 Very High Very High Very High
Respiratory Failure 6 75.20 Quite High
Cyanosis 3 57.68 Quite High
Patent Ductus Arteriosus 3 55.60 Quite High
Congenital Anomalies 6 53.92 Quite High
Lower Respiratory Tract Infection 3 20.08 Low Low
Scoliosis 3 13.20 Low Low
Muscle Weakness 6 12.00 Low Low
Myasthenia Gravis 9 5.00 Very Low Very Low Very Low
Syndrome 9 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Expression studies in MuSK deficient myotubes revealed that A727V, which is located within the catalytic loop of the enzyme, caused severe impairment of agrin-dependent MuSK phosphorylation, aggregation of acetylcholine receptors (AChRs) and interaction of MuSK with Dok-7, an essential intracellular binding protein of MuSK.
Negative_regulation (impairment) of MuSK Binding (interaction) of Dok-7 in myotubes
1) Confidence 0.42 Published 2010 Journal Human Molecular Genetics Section Abstract Doc Link PMC2876883 Disease Relevance 0.27 Pain Relevance 0
Our findings confirm previous observations and further indicate that disruption of the interaction of MuSK with Dok-7 plays a fundamental role in the pathogenesis of MUSK-associated CMS.


Negative_regulation (disruption) of MuSK Binding (interaction) of Dok-7 associated with congenital myasthenic syndromes
2) Confidence 0.42 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.50 Pain Relevance 0
In the case of the two previously described MUSK mutations, 220insC results in complete lack of expression of the protein and V790M impairs binding of MuSK to Dok-7 (11), but does not appear to alter MuSK autophosphorylation (5).
Negative_regulation (impairs) of MuSK Binding (binding) of Dok-7
3) Confidence 0.42 Published 2010 Journal Human Molecular Genetics Section Body Doc Link PMC2876883 Disease Relevance 0.25 Pain Relevance 0

General Comments

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