INT351520

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Context Info
Confidence 0.59
First Reported 2010
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 9
Total Number 11
Disease Relevance 6.40
Pain Relevance 0.06

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signal transduction (IKBKAP) nucleolus (IKBKAP) nucleus (IKBKAP)
protein complex assembly (IKBKAP) DNA binding (IKBKAP) cytoplasm (IKBKAP)
Anatomy Link Frequency
fibroblasts 2
IKBKAP (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 11 58.12 Quite High
Potency 11 36.28 Quite Low
imagery 16 5.00 Very Low Very Low Very Low
Peripheral nervous system 8 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Familial Dysautonomia 1193 100.00 Very High Very High Very High
Apoptosis 19 91.44 High High
Targeted Disruption 24 91.24 High High
Rare Diseases 16 87.96 High High
Congenital Anomalies 6 86.08 High High
Neuropathic Pain 14 84.52 Quite High
Disease 94 77.60 Quite High
Embryonic Lethality 8 73.12 Quite High
Pneumonia 3 59.76 Quite High
Pain 11 58.12 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The mutation results in a tissue-specific splicing defect: Exon 20 is skipped, leading to reduced IKAP protein expression.
Negative_regulation (reduced) of Gene_expression (expression) of IKAP protein
1) Confidence 0.59 Published 2010 Journal PLoS ONE Section Abstract Doc Link PMC3012102 Disease Relevance 0.72 Pain Relevance 0
In agreement with previous studies correlating a decreased expression of IKAP/hELP1 with defects in cell migration [10], [11], [22], [34], the Boyden's chamber assay show that FD hOE-MSCs have decreased migration potential, compared to control cells (Figure 5).
Negative_regulation (decreased) of Gene_expression (expression) of IKAP/hELP1 associated with familial dysautonomia
2) Confidence 0.58 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.56 Pain Relevance 0
In one of the past studies, IKBKAP expression level can be downregulated by RNAi in control cells [10], where there is no production of MU transcripts.
Negative_regulation (downregulated) of Gene_expression (expression) of IKBKAP
3) Confidence 0.58 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.27 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).
Negative_regulation (reduced) of Gene_expression (expression) of IKAP/hELP1 associated with familial dysautonomia
4) Confidence 0.58 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.71 Pain Relevance 0
The skipped isoform has a frameshift relative to the wild-type mRNA that results in a premature stop codon, leading to considerably reduced IKAP expression [9], [10].
Negative_regulation (reduced) of Gene_expression (expression) of IKAP
5) Confidence 0.43 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3012102 Disease Relevance 0.46 Pain Relevance 0.06
Nevertheless, we consistently detected a lower expression of IKBKAP gene (including the full length exon 2 transcript and the transcripts skipping exon 36) in FD hOE-MSCs (Figure 6C), as determined when investigating the exon 20 region.
Negative_regulation (lower) of Gene_expression (expression) of IKBKAP associated with familial dysautonomia
6) Confidence 0.43 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.18 Pain Relevance 0
Expression of IKBKAP transcripts is dramatically reduced in FD hOE-MSCs
Negative_regulation (reduced) of Gene_expression (Expression) of IKBKAP associated with familial dysautonomia
7) Confidence 0.43 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.62 Pain Relevance 0
However, a recent study suggests that IKAP/hELP1 expression is much higher in neurons compared to fibroblasts [21], and fibroblasts do not exhibit the same ratio of IKBKAP exon 20 including?
Negative_regulation (higher) of Gene_expression (expression) of IKAP/hELP1 in fibroblasts
8) Confidence 0.42 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.96 Pain Relevance 0
This may mean that the IKAP protein is directly or indirectly involved in cell cycle checkpoint regulation, and the reduced levels of IKAP in FD cells results in abnormal growth of cells.
Negative_regulation (reduced) of Gene_expression (levels) of IKAP associated with familial dysautonomia
9) Confidence 0.37 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3012102 Disease Relevance 0.81 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).
Negative_regulation (reduced) of Gene_expression (expression) of FD associated with familial dysautonomia
10) Confidence 0.37 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.71 Pain Relevance 0
FD sphere cells display a strongly reduced IKBKAP exon 20 skipping
Negative_regulation (reduced) of Gene_expression (skipping) of IKBKAP exon 20 associated with familial dysautonomia
11) Confidence 0.37 Published 2010 Journal PLoS ONE Section Body Doc Link PMC3004942 Disease Relevance 0.38 Pain Relevance 0

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