INT246552

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Context Info
Confidence 0.72
First Reported 2008
Last Reported 2010
Negated 0
Speculated 2
Reported most in Body
Documents 11
Total Number 16
Disease Relevance 6.72
Pain Relevance 0.71

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 2
blood 1
testes 1
Fmr1 (Mus musculus)
Fmr1 - I304N (4)
Pain Link Frequency Relevance Heat
Limbic system 2 99.72 Very High Very High Very High
depression 58 89.36 High High
Fibrositis 32 88.00 High High
Multiple sclerosis 20 85.68 High High
rheumatoid arthritis 12 73.36 Quite High
Hippocampus 24 68.48 Quite High
withdrawal 16 67.20 Quite High
Central nervous system 12 64.04 Quite High
Neuritis 8 61.52 Quite High
psoriasis 8 59.84 Quite High
Disease Link Frequency Relevance Heat
Toxicity 8 99.70 Very High Very High Very High
Autoimmune Disease 268 98.28 Very High Very High Very High
Syndrome 352 97.40 Very High Very High Very High
Stress 32 93.24 High High
Targeted Disruption 96 91.68 High High
Thyroid Disease 38 90.96 High High
Macrocephaly 12 90.84 High High
Tics 84 90.28 High High
Convulsion 208 89.40 High High
Depression 66 89.36 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
We examined Fmr1 mRNA expression in male FVB Fmr1I304N mice.
Spec (examined) Transcription (expression) of Fmr1
1) Confidence 0.72 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.13 Pain Relevance 0
Northern blot and quantitative RT-PCR analysis showed that I304N Fmr1 mRNA was expressed at wild type levels and was of the expected size in both brain and testes (Figure 1C and 1D).
Transcription (expressed) of Fmr1 (I304N) in brain
2) Confidence 0.72 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0
The amount of Fmr1 mRNA in each fraction was then plotted as a percentage of total Fmr1 mRNA summed over the entire polyribosome gradient.
Transcription (amount) of Fmr1
3) Confidence 0.72 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0
We analyzed whether I304N Fmr1 mRNA was being translated by comparing its distribution on polyribosomes with WT Fmr1 mRNA in P14 mice.
Transcription (translated) of Fmr1 (I304N)
4) Confidence 0.69 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.05 Pain Relevance 0
The amount of Fmr1 mRNA in each fraction was then plotted as a percentage of total Fmr1 mRNA summed over the entire polyribosome gradient.
Transcription (percentage) of Fmr1
5) Confidence 0.69 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0
Quantitative RT-PCR analysis of mRNA levels showed that I304N Fmr1 and WT Fmr1 mRNA had similar distributions across 16 sucrose gradient fractions (Figure 4E).
Transcription (had) of Fmr1
6) Confidence 0.69 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0
Quantitative RT-PCR analysis of mRNA levels showed that I304N Fmr1 and WT Fmr1 mRNA had similar distributions across 16 sucrose gradient fractions (Figure 4E).
Transcription (had) of Fmr1
7) Confidence 0.69 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0
Such therapeutics would, in principle, target either the pathogenic trigger, the expanded-CGG-repeat mRNA itself (“toxic RNA”), or downstream pathways that are altered as a consequence of the abnormal FMR1 mRNA expression.
Transcription (expression) of FMR1
8) Confidence 0.69 Published 2008 Journal Clinical Interventions in Aging Section Body Doc Link PMC2546470 Disease Relevance 0.25 Pain Relevance 0
A blood sample for measurement of methylation status, CGG repeat, and FMR1 mRNA levels were obtained from each subject (both mothers and children with FXS).
Transcription (levels) of FMR1 in blood associated with syndrome
9) Confidence 0.69 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955238 Disease Relevance 0.73 Pain Relevance 0.07
Univariate analysis of continuous variables including age, CGG repeat size, FMR1 mRNA level, activation ratio (AR: the fraction of normal FMR1 allele as the active allele in female individuals with FXS), IQ, and adaptive functioning was based on t test.
Transcription (level) of FMR1 associated with syndrome
10) Confidence 0.69 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955238 Disease Relevance 0.71 Pain Relevance 0
There were no significant differences in molecular variables including CGG repeats, FMR1 mRNA levels, and AR between both groups of mothers.
Transcription (levels) of FMR1
11) Confidence 0.69 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955238 Disease Relevance 1.08 Pain Relevance 0.21
However, we find no evidence to support the consequent prediction that in the I304N mouse there would be an increase in translation of the I304N-Fmr1 mRNA.
Transcription (translation) of I304N-Fmr1 (I304N)
12) Confidence 0.60 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.13 Pain Relevance 0
We examined Fmr1 mRNA expression in male FVB Fmr1I304N mice.
Spec (examined) Transcription (expression) of Fmr1I304N
13) Confidence 0.60 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.13 Pain Relevance 0
The limbic system has a higher transcription rate for the FMR1 mutation than most other areas of the brain and therefore it may be the most vulnerable to the RNA toxicity effect of the premutation (Hagerman and Hagerman 2004; Tassone et al 2004).
Transcription (transcription) of FMR1 in brain associated with toxicity and limbic system
14) Confidence 0.51 Published 2008 Journal Clinical Interventions in Aging Section Body Doc Link PMC2546470 Disease Relevance 1.51 Pain Relevance 0.27
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).
Transcription (levels) of FMR1 associated with toxicity and autoimmune disease
15) Confidence 0.51 Published 2010 Journal Hum Genet Section Body Doc Link PMC2955238 Disease Relevance 1.65 Pain Relevance 0.16
Northern blot and quantitative RT-PCR analysis showed that I304N Fmr1 mRNA was expressed at wild type levels and was of the expected size in both brain and testes (Figure 1C and 1D).
Transcription (expressed) of Fmr1 (I304N) in testes
16) Confidence 0.24 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0.17 Pain Relevance 0

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