INT204460

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Context Info
Confidence 0.61
First Reported 2007
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 7
Total Number 9
Disease Relevance 6.19
Pain Relevance 0.03

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 (3)
Pain Link Frequency Relevance Heat
agonist 38 62.60 Quite High
cerebral cortex 1 39.76 Quite Low
Hippocampus 14 38.40 Quite Low
Glutamate receptor 17 32.80 Quite Low
depression 5 11.36 Low Low
visual analogue scale 21 5.00 Very Low Very Low Very Low
metalloproteinase 9 5.00 Very Low Very Low Very Low
headache 9 5.00 Very Low Very Low Very Low
alcohol 5 5.00 Very Low Very Low Very Low
antagonist 5 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Targeted Disruption 101 100.00 Very High Very High Very High
Intellectual Impairment 57 94.44 High High
Glycogen Storage Disease 10 93.48 High High
Syndrome 186 90.32 High High
Liver Disease 28 90.04 High High
Convulsion 39 82.80 Quite High
Fragile X Syndrome 108 82.76 Quite High
Aggression 16 82.44 Quite High
Neurological Disease 6 82.20 Quite High
Attention Deficit Hyperactivity Disorder 21 81.80 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
We compared the Fmr1I304N mouse to wild-type littermates on the same background and using many of the same assays employed for extensive behavioral testing of the Fmr1 null mouse, the Fxr2 null mouse, double knockout of both Fmr1 and Fxr2, and a mouse overexpressing human FMRP from a transgenic YAC construct [53], [66]–[69].
Positive_regulation (overexpressing) of Gene_expression (overexpressing) of FMRP associated with targeted disruption
1) Confidence 0.61 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.60 Pain Relevance 0
We cannot rule out the possibility that the I304N patient might express elevated I304N FMRP levels such that a dominant negative action exacerbates his symptoms.
Positive_regulation (elevated) of Neg (negative) Gene_expression (express) of I304N FMRP (I304N)
2) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.71 Pain Relevance 0
We compared the Fmr1I304N mouse to wild-type littermates on the same background and using many of the same assays employed for extensive behavioral testing of the Fmr1 null mouse, the Fxr2 null mouse, double knockout of both Fmr1 and Fxr2, and a mouse overexpressing human FMRP from a transgenic YAC construct [53], [66]–[69].
Positive_regulation (overexpressing) of Gene_expression (overexpressing) of Fmr1 associated with targeted disruption
3) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.61 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 (?
Positive_regulation (levels) of Gene_expression (expressed) of I304N-FMRP (I304N)
4) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.08 Pain Relevance 0.03
When of sufficient size, these expansions cause promoter methylation and gene silencing, resulting in the absence of, or reduced levels of FMR1 mRNA and FMRP (the protein product of FMR1).
Positive_regulation (levels) of Gene_expression (product) of FMR1
5) Confidence 0.50 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2958860 Disease Relevance 1.10 Pain Relevance 0
When of sufficient size, these expansions cause promoter methylation and gene silencing, resulting in the absence of, or reduced levels of FMR1 mRNA and FMRP (the protein product of FMR1).
Positive_regulation (levels) of Gene_expression (product) of FMR1
6) Confidence 0.50 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2958860 Disease Relevance 1.10 Pain Relevance 0
When of sufficient size, these expansions cause promoter methylation and gene silencing, resulting in the absence of, or reduced levels of FMR1 mRNA and FMRP (the protein product of FMR1).
Positive_regulation (levels) of Gene_expression (product) of FMRP
7) Confidence 0.50 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2958860 Disease Relevance 1.10 Pain Relevance 0
However, I304N-FMRP was largely dissociated from polyribosomes in mouse brain (Figure 5A), and there was a reciprocal increase in I304N-FMRP present in lighter polysome fractions (Figure 5B).
Positive_regulation (increase) of Gene_expression (present) of I304N-FMRP (I304N) in brain
8) Confidence 0.44 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0
There was a 21% increase in the basal level of APP in untreated fmr-1 KO neurons compared to WT (Figure 5B).
Positive_regulation (increase) of Gene_expression (neurons) of fmr-1 in neurons associated with targeted disruption
9) Confidence 0.43 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 0.90 Pain Relevance 0

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