INT204468

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Context Info
Confidence 0.59
First Reported 2007
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 5
Total Number 9
Disease Relevance 7.50
Pain Relevance 0.19

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

transport (Fmr1) RNA binding (Fmr1) nucleus (Fmr1)
cytoplasm (Fmr1)
Anatomy Link Frequency
neurons 2
brain 2
Fmr1 (Mus musculus)
Fmr1 - I304N (1)
Pain Link Frequency Relevance Heat
Glutamate receptor 26 82.40 Quite High
agonist 47 80.88 Quite High
depression 5 7.08 Low Low
Hippocampus 14 5.00 Very Low Very Low Very Low
Pain 5 5.00 Very Low Very Low Very Low
nMDA receptor antagonist 5 5.00 Very Low Very Low Very Low
alcohol 5 5.00 Very Low Very Low Very Low
Immobilon 5 5.00 Very Low Very Low Very Low
isoflurane 5 5.00 Very Low Very Low Very Low
imagery 5 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Intellectual Impairment 69 100.00 Very High Very High Very High
Syndrome 123 99.44 Very High Very High Very High
Autism 44 99.40 Very High Very High Very High
Aging 12 99.28 Very High Very High Very High
Fragile X Syndrome 105 98.84 Very High Very High Very High
Developmental Disabilities 4 97.76 Very High Very High Very High
Alzheimer's Dementia 84 96.96 Very High Very High Very High
Disease 45 94.76 High High
Convulsion 24 89.40 High High
Liver Disease 25 85.92 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
By causing loss of FMRP expression, the Fmr1tm1Cgr mutation largely recapitulates the human Fragile X Syndrome at the protein level.
Negative_regulation (loss) of Gene_expression (expression) of FMRP associated with fragile x syndrome
1) Confidence 0.59 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.69 Pain Relevance 0
UTR region (reviewed in [7]), culminating in loss of FMRP expression.
Negative_regulation (loss) of Gene_expression (expression) of FMRP
2) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.96 Pain Relevance 0
We conclude that loss of RNA binding and underexpression of FMRP are sufficient to cause the Fragile X Syndrome.



Negative_regulation (loss) of Gene_expression (underexpression) of FMRP associated with fragile x syndrome
3) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2779495 Disease Relevance 0.80 Pain Relevance 0
The I304N mutation causes defective KH2-mediated RNA binding in neurons, and decreased FMRP levels, particularly in younger animals.
Negative_regulation (decreased) of Gene_expression (levels) of FMRP in neurons
4) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.46 Pain Relevance 0
In younger mice (P14), WT FMRP levels were much higher, while I304N-FMRP was expressed at levels only slightly higher than in older mice, leading to a relatively larger difference between WT and I304N FMRP levels in the second postnatal week (?
Negative_regulation (difference) of Gene_expression (levels) of I304N FMRP (I304N)
5) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.08 Pain Relevance 0.03
In addition, FMRP mRNA and protein expression are downregulated as a function of aging in the mouse brain [56], suggesting that repressed transcripts, such as APP, would be upregulated with aging, a well-known phenomenon in animals and humans.
Negative_regulation (downregulated) of Gene_expression (expression) of FMRP mRNA in brain associated with aging
6) Confidence 0.42 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 1.97 Pain Relevance 0
Fragile X mental retardation protein (FMRP) is a cytoplasmic mRNA binding protein whose expression is lost in fragile X syndrome.
Negative_regulation (lost) of Gene_expression (expression) of FMRP associated with intellectual impairment and syndrome
7) Confidence 0.42 Published 2007 Journal PLoS Biology Section Abstract Doc Link PMC1808499 Disease Relevance 0.75 Pain Relevance 0.08
The CGG expansion is associated with hypermethylation of the surrounding DNA, chromatin condensation, and subsequent transcriptional silencing of the fmr-1 gene, resulting in the loss of expression of fragile X mental retardation protein (FMRP) [7].
Negative_regulation (loss) of Gene_expression (expression) of FMRP associated with intellectual impairment
8) Confidence 0.36 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 1.05 Pain Relevance 0
Fragile X mental retardation protein (FMRP) is a cytoplasmic mRNA binding protein whose expression is lost in fragile X syndrome.
Negative_regulation (lost) of Gene_expression (expression) of retardation protein associated with intellectual impairment and syndrome
9) Confidence 0.36 Published 2007 Journal PLoS Biology Section Abstract Doc Link PMC1808499 Disease Relevance 0.75 Pain Relevance 0.08

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