INT131645

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Context Info
Confidence 0.58
First Reported 2004
Last Reported 2008
Negated 0
Speculated 0
Reported most in Body
Documents 10
Total Number 10
Disease Relevance 8.12
Pain Relevance 1.24

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

pigmentation (Nf1) signal transduction (Nf1) nucleus (Nf1)
intracellular (Nf1) extracellular matrix organization (Nf1) protein complex (Nf1)
Anatomy Link Frequency
NF-1 2
limbs 1
synapse 1
Nf1 (Mus musculus)
Pain Link Frequency Relevance Heat
gABA 42 99.32 Very High Very High Very High
Lasting pain 1 93.20 High High
Thalamus 6 89.84 High High
Dopamine 12 89.76 High High
cerebral cortex 6 87.56 High High
Hippocampus 48 86.88 High High
long-term potentiation 30 83.36 Quite High
dopamine receptor 48 78.40 Quite High
Neuropeptide 5 76.72 Quite High
Pain 4 76.00 Quite High
Disease Link Frequency Relevance Heat
Watson Syndrome 191 100.00 Very High Very High Very High
Melanoma 60 99.52 Very High Very High Very High
Cognitive Disorder 110 99.42 Very High Very High Very High
Targeted Disruption 39 99.28 Very High Very High Very High
Neurofibromatosis 20 99.04 Very High Very High Very High
Congenital Anomalies 7 98.78 Very High Very High Very High
Shock 12 98.72 Very High Very High Very High
Cleidocranial Dysplasia 15 98.48 Very High Very High Very High
Neurofibroma 47 95.20 Very High Very High Very High
Alzheimer's Dementia 18 93.72 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Drosophila models deficient for neurofibromin have also been used to determine if the learning deficits seen within mammalian samples are caused by the developmental abnormalities seen in NF1 or if the cognitive defects are due directly to decreased neurofibromin activity.
Negative_regulation (decreased) of neurofibromin associated with cognitive disorder, congenital anomalies and watson syndrome
1) Confidence 0.58 Published 2006 Journal BMC Neurosci Section Body Doc Link PMC1434756 Disease Relevance 0.84 Pain Relevance 0
Loss of neurofibromin within a cell would thus result in constitutive activation of the Ras signaling pathway, ultimately resulting in cell growth.
Negative_regulation (Loss) of neurofibromin
2) Confidence 0.58 Published 2006 Journal BMC Neurosci Section Body Doc Link PMC1434756 Disease Relevance 1.10 Pain Relevance 0.05
Loss of NF1 results in an increase in activity of the p21(ras) transduction cascade.
Negative_regulation (Loss) of NF1
3) Confidence 0.52 Published 2006 Journal Neuroscience Section Abstract Doc Link 16298082 Disease Relevance 0.44 Pain Relevance 0.36
Ishii et al [21] recently reported a loss of heterozygosity (LOH) at the NF-1 gene in an anal melanoma occurring in an NF-1 patient.
Negative_regulation (loss) of NF-1 gene in NF-1 associated with melanoma
4) Confidence 0.44 Published 2004 Journal World J Surg Oncol Section Body Doc Link PMC519028 Disease Relevance 1.04 Pain Relevance 0
The Nf1 heterozygous mice do not develop tibial dysplasia, but Kolanczyk et al [16] did obtain mice with tibial bowing by homozygous inactivation of Nf1 in developing limbs using a conditional knock-out system.
Negative_regulation (inactivation) of Nf1 in limbs associated with targeted disruption and cleidocranial dysplasia
5) Confidence 0.43 Published 2008 Journal BMC Med Section Body Doc Link PMC2531128 Disease Relevance 0.79 Pain Relevance 0
We used gene expression profiling to investigate the genetic pathways leading to GABA mediated inhibition, and to link deficiency of neurofibromin to long term changes at the synapse.
Negative_regulation (deficiency) of neurofibromin in synapse associated with gaba
6) Confidence 0.43 Published 2006 Journal BMC Neurosci Section Body Doc Link PMC1434756 Disease Relevance 0.33 Pain Relevance 0.20
The Nf1+/- mice contain a Neo targeting cassette, which disrupts the Nf1 gene to form the knockout allele and can be tested using primers specific for this insert.
Negative_regulation (disrupts) of Nf1 associated with targeted disruption
7) Confidence 0.43 Published 2006 Journal BMC Neurosci Section Body Doc Link PMC1434756 Disease Relevance 0.31 Pain Relevance 0.26
NF1 is caused by a heterozygous loss of function mutation within the NF1 gene located on chromosome 17q11.2.
Negative_regulation (loss) of NF1 associated with watson syndrome
8) Confidence 0.42 Published 2006 Journal BMC Neurosci Section Body Doc Link PMC1434756 Disease Relevance 1.88 Pain Relevance 0.07
While no significant dysregulation of APP was seen in the data set, members of the kinesin motor protein family were downregulated in the Nf1+/- mice at post natal days 15 and 20 (Tables 2 and 3).
Negative_regulation (downregulated) of Nf1
9) Confidence 0.37 Published 2006 Journal BMC Neurosci Section Body Doc Link PMC1434756 Disease Relevance 0.09 Pain Relevance 0.19
More importantly, the absence of NF-1 in our patient may have implications for the potential association between malignant melanoma and NF-1.


Negative_regulation (absence) of NF-1 in NF-1 associated with melanoma
10) Confidence 0.32 Published 2004 Journal World J Surg Oncol Section Body Doc Link PMC519028 Disease Relevance 1.31 Pain Relevance 0.11

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