INT244259

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Context Info
Confidence 0.78
First Reported 2008
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 4
Total Number 4
Disease Relevance 1.91
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.

cytosol (UBE3A) protein modification process (UBE3A) nucleus (UBE3A)
intracellular (UBE3A) ligase activity (UBE3A)
Anatomy Link Frequency
neurons 1
brain 1
UBE3A (Homo sapiens)
Pain Link Frequency Relevance Heat
fluoxetine 9 5.00 Very Low Very Low Very Low
antidepressant 9 5.00 Very Low Very Low Very Low
tetrodotoxin 4 5.00 Very Low Very Low Very Low
sSRI 3 5.00 Very Low Very Low Very Low
depression 3 5.00 Very Low Very Low Very Low
Glutamate receptor 2 5.00 Very Low Very Low Very Low
imagery 1 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Angelman Syndrome 115 99.38 Very High Very High Very High
Disease 7 95.76 Very High Very High Very High
Syndrome 59 95.16 Very High Very High Very High
Uniparental Disomy 6 91.80 High High
Autism 43 60.48 Quite High
Congenital Anomalies 15 59.96 Quite High
Epilepsy 6 42.60 Quite Low
Intellectual Impairment 34 7.12 Low Low
Attention Deficit Hyperactivity Disorder 76 5.00 Very Low Very Low Very Low
Anxiety Disorder 19 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Lack of UBE3A expression may result from several mechanisms including deletion of the 15q11-q13 region of the chromosome 15 inherited from the mother (this may be isolated or rarely be due to chromosome re-arrangement), paternal uniparental disomy (this may occur postzygotically or less often arise through meiotic nondisjunction), imprinting defect (this may occasionally be due to imprinting center mutation), or UBE3A mutation (reviewed in Dan et al 2004a).
Gene_expression (expression) of UBE3A associated with uniparental disomy
1) Confidence 0.78 Published 2008 Journal Neuropsychiatric Disease and Treatment Section Body Doc Link PMC2526368 Disease Relevance 0.74 Pain Relevance 0
Almost all manifestations of Angelman syndrome seem to be related to lack of UBE3A gene expression in the brain.
Gene_expression (expression) of UBE3A in brain associated with angelman syndrome
2) Confidence 0.78 Published 2008 Journal Neuropsychiatric Disease and Treatment Section Body Doc Link PMC2526368 Disease Relevance 0.82 Pain Relevance 0
It is due to lack of expression of the UBE3A gene, an imprinted gene located on chromosome 15q.
Gene_expression (expression) of UBE3A
3) Confidence 0.78 Published 2008 Journal Neuropsychiatric Disease and Treatment Section Abstract Doc Link PMC2526368 Disease Relevance 0.34 Pain Relevance 0
With RNAi pools targeting E6-AP/Ube3A or Mdm2, only a small number of transfected neurons could be identified, all of which appeared unhealthy; thus, these were excluded from further analysis (data not shown).
Gene_expression (targeting) of E6-AP in neurons
4) Confidence 0.65 Published 2010 Journal PLoS ONE Section Body Doc Link PMC2844417 Disease Relevance 0 Pain Relevance 0

General Comments

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