INT204463

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Context Info
Confidence 0.78
First Reported 2007
Last Reported 2010
Negated 1
Speculated 3
Reported most in Body
Documents 50
Total Number 56
Disease Relevance 23.73
Pain Relevance 0.78

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
brain 8
testes 3
neurons 3
dendrites 1
primary neurons 1
Fmr1 (Mus musculus)
Fmr1 - I304N (22)
Pain Link Frequency Relevance Heat
Glutamate receptor 132 94.80 High High
agonist 316 86.52 High High
antagonist 40 84.92 Quite High
nMDA receptor antagonist 40 54.60 Quite High
cerebral cortex 12 39.76 Quite Low
Hippocampus 96 38.40 Quite Low
halothane 12 27.40 Quite Low
depression 40 25.12 Quite Low
metalloproteinase 12 13.76 Low Low
alcohol 40 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Targeted Disruption 872 100.00 Very High Very High Very High
Intellectual Impairment 440 100.00 Very High Very High Very High
Cognitive Disorder 136 99.92 Very High Very High Very High
Autism 256 99.40 Very High Very High Very High
Epstein-barr Virus 80 99.38 Very High Very High Very High
Syndrome 636 99.12 Very High Very High Very High
Fragile X Syndrome 844 98.84 Very High Very High Very High
Aging 36 98.56 Very High Very High Very High
Developmental Disabilities 12 97.76 Very High Very High Very High
Disease 360 97.16 Very High Very High Very High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Lower steady state levels of I304N FMRP in brain and testes are surprising in light of previous data demonstrating that I304N FMRP is expressed at normal levels in EBV transformed lymphoblastoid cells from the patient with the I304N mutation [25] and may be due to the fact that a different cell type was studied or that EBV transformation altered normal FMRP expression.
Gene_expression (expression) of FMRP in testes associated with epstein-barr virus
1) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.33 Pain Relevance 0
Wild type FMRP was found in the void volume of the Superose 6 column, indicating that FMRP is normally present in a complex of greater than 40,000 kDa (Figure 6A, upper left panels).
Gene_expression (present) of FMRP in upper
2) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 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 (?
Gene_expression (expressed) of I304N-FMRP (I304N)
3) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.08 Pain Relevance 0.03
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.
Neg (negative) Gene_expression (express) of I304N FMRP (I304N)
4) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.71 Pain Relevance 0
By causing loss of FMRP expression, the Fmr1tm1Cgr mutation largely recapitulates the human Fragile X Syndrome at the protein level.
Gene_expression (expression) of FMRP associated with fragile x syndrome
5) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.68 Pain Relevance 0
Lower steady state levels of I304N FMRP in brain and testes are surprising in light of previous data demonstrating that I304N FMRP is expressed at normal levels in EBV transformed lymphoblastoid cells from the patient with the I304N mutation [25] and may be due to the fact that a different cell type was studied or that EBV transformation altered normal FMRP expression.
Gene_expression (expressed) of I304N FMRP (I304N) in testes associated with epstein-barr virus
6) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.34 Pain Relevance 0
Alternatively, the effects on LTD could be due to a hypomorphic expression of I304N-FMRP.
Gene_expression (expression) of I304N-FMRP (I304N)
7) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0.03
Another means of assessing FMRP synthesis is to analyze the distribution of its mRNA on polyribosome sucrose gradients.
Gene_expression (synthesis) of FMRP
8) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.24 Pain Relevance 0
We examined I304N-FMRP expression in the brain, testes, and spleen by Western blot analysis.
Spec (examined) Gene_expression (expression) of I304N-FMRP (I304N) in spleen
9) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.09 Pain Relevance 0.04
At 2 months of age, I304N-FMRP was expressed at ?
Gene_expression (expressed) of I304N-FMRP (I304N)
10) Confidence 0.78 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.09 Pain Relevance 0.04
Fragile X mental retardation protein (FMRP) is a cytoplasmic mRNA binding protein whose expression is lost in fragile X syndrome.
Gene_expression (expression) of FMRP associated with intellectual impairment and syndrome
11) Confidence 0.76 Published 2007 Journal PLoS Biology Section Abstract Doc Link PMC1808499 Disease Relevance 0.74 Pain Relevance 0.08
Other studies have found that recombinant I304N FMRP produced in insect cells retained some ribohomopolymer binding, but with decreased binding to poly-U [79].
Gene_expression (produced) of I304N FMRP (I304N) in poly
12) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0
Recombinant I304N-FMRP produced in insect cells has been shown to bind to G-quartet RNA, but not the kissing complex RNA [51].
Gene_expression (produced) of I304N-FMRP (I304N)
13) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 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].
Gene_expression (overexpressing) of FMRP associated with targeted disruption
14) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.60 Pain Relevance 0
Decreased protein steady-state levels with normal mRNA levels (Figure 1C and 1D) suggests that I304N-FMRP may either be synthesized more slowly or turned over more rapidly.
Gene_expression (synthesized) of I304N-FMRP (I304N)
15) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.06 Pain Relevance 0
I304N-FMRP was also present at lower steady-state levels than the WT protein in other tissues (?
Gene_expression (present) of I304N-FMRP (I304N)
16) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.07 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 (?
Gene_expression (levels) of WT FMRP
17) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.08 Pain Relevance 0.03
I304N FMRP levels in the I304N mouse
Gene_expression (levels) of I304N FMRP (I304N)
18) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.14 Pain Relevance 0.06
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.


Gene_expression (mutation) of Fmr1I304N associated with fragile x syndrome
19) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.23 Pain Relevance 0
I304N FMRP function in the I304N mouse
Gene_expression (function) of I304N FMRP (I304N)
20) Confidence 0.68 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0

General Comments

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