INT351511

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Context Info
Confidence 0.71
First Reported 2010
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 30
Total Number 32
Disease Relevance 15.51
Pain Relevance 0.18

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

signal transduction (IKBKAP) nucleolus (IKBKAP) nucleus (IKBKAP)
protein complex assembly (IKBKAP) DNA binding (IKBKAP) cytoplasm (IKBKAP)
Anatomy Link Frequency
neuronal 2
leukocytes 1
bridge 1
IKBKAP (Homo sapiens)
Pain Link Frequency Relevance Heat
Potency 32 98.32 Very High Very High Very High
imagery 60 69.28 Quite High
Pain 32 5.00 Very Low Very Low Very Low
Peripheral nervous system 30 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Familial Dysautonomia 3780 100.00 Very High Very High Very High
Disease 334 95.32 Very High Very High Very High
Neurodegenerative Disease 32 81.92 Quite High
Neuropathic Pain 34 70.64 Quite High
Apoptosis 62 63.92 Quite High
Neurological Disease 30 31.00 Quite Low
Targeted Disruption 90 19.52 Low Low
Rare Diseases 60 16.24 Low Low
Adhesions 32 5.00 Very Low Very Low Very Low
Pain 32 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Furthermore, the total amount of IKBKAP transcripts in FD (WT+MU) remains 3 to 5 times less abundant than WT in controls, which suggests a defect in IKBKAP transcription and/or mRNA stability.
Transcription (transcription) of IKBKAP associated with familial dysautonomia
1) Confidence 0.71 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.76 Pain Relevance 0
Additionally, hOE-MSCs are an appropriate model for validating the potency of therapeutic agents such as kinetin, a cytokinin that has been shown to increase IKBKAP mRNA and protein expression in FD cell lines and in vivo models [20], [22], [35], [36] as well as in leukocytes of healthy carriers of the FD mutation [37].


Transcription (expression) of IKBKAP in leukocytes associated with familial dysautonomia and potency
2) Confidence 0.71 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.90 Pain Relevance 0.05
In addition, kinetin has no significant effects on IKBKAP transcript levels in control cells, which likely excludes a potential action of kinetin on IKBKAP transcription.
Transcription (transcription) of IKBKAP
3) Confidence 0.71 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.23 Pain Relevance 0
IKBKAP mRNA expression was investigated in cultures of 5 controls and 4 FD hOE-MSCs at early (P1, P2) and later cell passages (P5, P9).
Spec (investigated) Transcription (expression) of IKBKAP associated with familial dysautonomia
4) Confidence 0.71 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.57 Pain Relevance 0
Detection of the IKAP mutant isoform (skipping of exon 20) was performed using primers bridge 19-21F (5?
Transcription (Detection) of IKAP in bridge
5) Confidence 0.69 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3012102 Disease Relevance 0 Pain Relevance 0
This is probably because PS affects transcription rather than IKAP function directly.
Transcription (transcription) of IKAP
6) Confidence 0.69 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3012102 Disease Relevance 0.23 Pain Relevance 0
Thus, to investigate the involvement of candidate disease mechanisms in FD and to test whether differences in gene expression are stably imprinted in FD compared to control hOE-MSCs, we explored the transcriptome of these cells at very early (P1, P2) and later (P5, P9) cell passages with the same samples used to quantify IKBKAP transcripts.
Transcription (transcripts) of IKBKAP associated with familial dysautonomia and disease
7) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.58 Pain Relevance 0.03
By looking at the beginning of IKBKAP transcript, we identified a second event of alternative splicing.
Transcription (transcript) of IKBKAP
8) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.51 Pain Relevance 0
We observed a significant lower expression of both IKBKAP transcript and IKAP/hELP1 protein in FD cells resulting from the degradation of the transcript isoform skipping exon 20.
Transcription (transcript) of IKBKAP associated with familial dysautonomia
9) Confidence 0.68 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC3004942 Disease Relevance 0.87 Pain Relevance 0
Thus, a large amount of IKBKAP MU transcripts is degraded through the NMD pathway resulting in much less IKBKAP transcripts and IKAP/hELP1 protein in FD compared to control cells.


Transcription (transcripts) of IKBKAP associated with familial dysautonomia
10) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.51 Pain Relevance 0.03
The number of IKBKAP and ABL1 transcripts was extrapolated automatically by the Sequence Detection System v2.2.2 software (Applied Biosystems).


Transcription (transcripts) of IKBKAP
11) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.08 Pain Relevance 0
In FD cells, the differential expression of IKBKAP transcripts was also correlated to a reduced expression of IKAP/hELP1 protein in FD, when compared to controls, as revealed by western blot analysis (Figure 2C).
Transcription (expression) of IKBKAP associated with familial dysautonomia
12) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.76 Pain Relevance 0
The level of IKBKAP mRNA splicing correction increased proportionally to the concentration of kinetin, and the MU transcript almost vanished at 100 ┬ÁM.
Transcription (correction) of IKBKAP
13) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.51 Pain Relevance 0
In order to get a better insight into the actual contribution of NMD on the decay of IKBKAP MU transcripts, it will be necessary to specifically block the NMD machinery.
Transcription (transcripts) of IKBKAP
14) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.32 Pain Relevance 0
Thus, a large amount of IKBKAP MU transcripts is degraded through the NMD pathway resulting in much less IKBKAP transcripts and IKAP/hELP1 protein in FD compared to control cells.


Transcription (transcripts) of IKBKAP associated with familial dysautonomia
15) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.57 Pain Relevance 0.03
We confirmed IKBKAP mRNA alternative splicing in FD hOE-MSCs and identified 2 novel spliced isoforms also present in control cells.
Transcription (splicing) of IKBKAP associated with familial dysautonomia
16) Confidence 0.68 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC3004942 Disease Relevance 0.81 Pain Relevance 0
Furthermore, the total amount of IKBKAP transcripts in FD (WT+MU) remains 3 to 5 times less abundant than WT in controls, which suggests a defect in IKBKAP transcription and/or mRNA stability.
Transcription (transcripts) of IKBKAP associated with familial dysautonomia
17) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.75 Pain Relevance 0
Finally, we wanted to investigate kinetin activity along the IKBKAP transcript.
Transcription (transcript) of IKBKAP
18) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.15 Pain Relevance 0
We first observed that the total amount of IKBKAP transcript detected was almost identical when probes at the extremities or in the middle of the transcript were used (Figure 7G).
Transcription (transcript) of IKBKAP
19) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.16 Pain Relevance 0
Expression of IKBKAP transcripts is dramatically reduced in FD hOE-MSCs
Transcription (transcripts) of IKBKAP associated with familial dysautonomia
20) Confidence 0.68 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.62 Pain Relevance 0

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