INT151538

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Context Info
Confidence 0.68
First Reported 2007
Last Reported 2010
Negated 2
Speculated 1
Reported most in Body
Documents 21
Total Number 23
Disease Relevance 12.24
Pain Relevance 2.07

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 3
brain 1
ACC neurons 1
Fmr1 (Mus musculus)
Fmr1 - I304N (4)
Pain Link Frequency Relevance Heat
Anterior cingulate cortex 20 99.84 Very High Very High Very High
Glutamate receptor 54 99.00 Very High Very High Very High
agonist 88 96.72 Very High Very High Very High
Fibrositis 5 85.76 High High
Multiple sclerosis 5 85.00 Quite High
Lasting pain 4 82.32 Quite High
addiction 4 81.48 Quite High
cerebral cortex 6 74.00 Quite High
Hippocampus 28 72.64 Quite High
Central nervous system 3 64.40 Quite High
Disease Link Frequency Relevance Heat
Targeted Disruption 347 99.96 Very High Very High Very High
Toxicity 1 99.88 Very High Very High Very High
Disease 93 99.68 Very High Very High Very High
Autoimmune Disease 71 98.46 Very High Very High Very High
Cognitive Disorder 57 96.44 Very High Very High Very High
Sprains And Strains 74 96.20 Very High Very High Very High
Fragile X Syndrome 212 94.72 High High
Intellectual Impairment 141 94.12 High High
Syndrome 374 93.28 High High
Glycogen Storage Disease 20 93.16 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
These data also demonstrate that FMRP and mGluR activation regulate APP synthesis in both FVB and C57BL/6 mice, as the SNs were prepared from the former strain, and the primary cortical neurons from the latter strain.


Positive_regulation (activation) of FMRP in neurons associated with sprains and strains
1) Confidence 0.68 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 0.80 Pain Relevance 0.07
These autoimmune disorders in some premutation carriers are thought to be related to RNA toxicity from elevated levels of FMR1 mRNA (Coffey et al. 2008; Greco et al. 2008; Zhang et al. 2009).
Positive_regulation (elevated) of FMR1 associated with toxicity and autoimmune disease
2) Confidence 0.66 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955238 Disease Relevance 1.65 Pain Relevance 0.16
The upregulation of FMRP occurs at the transcriptional level.
Positive_regulation (upregulation) of FMRP
3) Confidence 0.66 Published 2008 Journal J. Neurosci. Section Abstract Doc Link 18434517 Disease Relevance 0.41 Pain Relevance 0.38
Neurons stimulated with DHPG for 10 and 20 min prior to cell fixation showed a 18%–25% increase in dendritic APP levels in WT but no increase in fmr-1 KO cultures (Figure 5B).
Neg (no) Positive_regulation (increase) of fmr-1 in Neurons associated with targeted disruption
4) Confidence 0.59 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 0.84 Pain Relevance 0.05
Using genetic approaches, we found that Ca(2+)/calmodulin-stimulated adenylyl cyclase 1 (AC1) and calcium/calmodulin-dependent kinase IV (CaMKIV) contribute to the upregulation of FMRP induced by stimulating group I mGluRs.
Positive_regulation (upregulation) of FMRP
5) Confidence 0.58 Published 2008 Journal J. Neurosci. Section Abstract Doc Link 18434517 Disease Relevance 0.42 Pain Relevance 0.38
In this study, we demonstrate that activation of group I mGluR upregulated FMRP in ACC neurons of adult mice through the Ca(2+)-dependent signaling pathways.
Positive_regulation (upregulated) of FMRP in ACC neurons associated with anterior cingulate cortex
6) Confidence 0.58 Published 2008 Journal J. Neurosci. Section Abstract Doc Link 18434517 Disease Relevance 0.48 Pain Relevance 0.37
Using genetic approaches, we found that Ca(2+)/calmodulin-stimulated adenylyl cyclase 1 (AC1) and calcium/calmodulin-dependent kinase IV (CaMKIV) contribute to the upregulation of FMRP induced by stimulating group I mGluRs.
Positive_regulation (induced) of FMRP
7) Confidence 0.58 Published 2008 Journal J. Neurosci. Section Abstract Doc Link 18434517 Disease Relevance 0.42 Pain Relevance 0.38
Finally, since the I304N patient is more severely affected than typical Fragile X patients, we examined whether mGluR-LTD is enhanced in the Fmr1I304N relative to Fmr1 null mice.
Spec (whether) Positive_regulation (enhanced) of Fmr1I304N
8) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.26 Pain Relevance 0.20
The Fmr1I304N mice display the same degree of macroorchidism as their null counterparts, and this increases with age, as in the Fmr1 null mice [54] and in the human patients [6], supporting the conclusion that the Fmr1I304N mutation is sufficient to phenocopy the Fragile X Syndrome.


Positive_regulation (increases) of Fmr1 associated with fragile x syndrome
9) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.22 Pain Relevance 0
While all of the characteristic isoforms of FMRP are observed in the Fmr1I304N tissues, they are expressed at lower levels than in wild type littermates.
Positive_regulation (observed) of FMRP
10) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.23 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 I304N FMRP (I304N)
11) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.71 Pain Relevance 0
We found no evidence for a compensatory increase of the FMRP homologues, FXR1P and FXR2P, in I304N mice (Figure 4C).
Positive_regulation (increase) of FMRP
12) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.07 Pain Relevance 0.03
Missense mutations offer one means of confirming a central role for FMRP in the disease, but to date, only a single such patient has been described.
Positive_regulation (role) of FMRP associated with disease
13) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Abstract Doc Link PMC2779495 Disease Relevance 0.85 Pain Relevance 0
Generation of targeted Fmr1 I304N knock-in mutation
Positive_regulation (Generation) of Fmr1 (I304N) associated with targeted disruption
14) Confidence 0.50 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.61 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 FMRP
15) Confidence 0.50 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2958860 Disease Relevance 1.09 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 FMR1
16) Confidence 0.50 Published 2010 Journal BMC Neurol Section Body Doc Link PMC2958860 Disease Relevance 1.09 Pain Relevance 0
FMRP is required for type 1 metabotropic glutamate receptor (mGluR)–dependent translation of synaptic proteins, including FMRP and postsynaptic density 95 (PSD-95) [21,22].
Positive_regulation (required) of FMRP associated with glutamate receptor
17) Confidence 0.49 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 0.14 Pain Relevance 0.05
Therefore, FMRP was not required for basal protein synthesis, which is in agreement with a prior report [31].
Neg (not) Positive_regulation (required) of FMRP
18) Confidence 0.49 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 0.41 Pain Relevance 0
Upon mGluR activation, FMRP is released from the nontranslating RNP, resulting in prompt protein synthesis.
Positive_regulation (activation) of FMRP
19) Confidence 0.46 Published 2007 Journal PLoS Biology Section Body Doc Link PMC1808499 Disease Relevance 0.34 Pain Relevance 0
To generate Fmr1I304N mice we introduced the I304N mutation into the endogenous mouse Fmr1 locus by homologous recombination (Figure 1A).
Positive_regulation (generate) of Fmr1I304N
20) Confidence 0.44 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.18 Pain Relevance 0

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