INT52347

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Context Info
Confidence 0.58
First Reported 1995
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 17
Total Number 26
Disease Relevance 13.03
Pain Relevance 0.59

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

Anatomy Link Frequency
eye 2
fibroblasts 1
epithelium 1
blood 1
white blood cells 1
CHM (Homo sapiens)
Pain Link Frequency Relevance Heat
anesthesia 22 93.72 High High
withdrawal 2 91.36 High High
cva 36 90.00 High High
Inflammation 16 43.60 Quite Low
cytokine 75 37.16 Quite Low
Pain 42 33.36 Quite Low
imagery 54 5.00 Very Low Very Low Very Low
chemokine 10 5.00 Very Low Very Low Very Low
depression 6 5.00 Very Low Very Low Very Low
ischemia 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Choroideremia 1663 100.00 Very High Very High Very High
Pressure Volume 2 Under Development 9 100.00 Very High Very High Very High
Syndrome 302 99.98 Very High Very High Very High
Disease 135 99.70 Very High Very High Very High
Sickle Cell Anemia 109 97.56 Very High Very High Very High
Brain Injury 21 97.04 Very High Very High Very High
Ocular Toxicity (including Many Sub-types) 10 92.52 High High
Cv General 3 Under Development 27 90.00 High High
Blindness 11 87.72 High High
Stress 53 82.80 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
The missense mutation M1I (Table 1) occurs at the start site (ATG) resulting in a truncated protein product (white ribbon, Fig. 3B) with the loss of REP-1 domain structure.
Negative_regulation (loss) of REP-1
1) Confidence 0.58 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.46 Pain Relevance 0
An apparent underestimation of the full complexity of CCRs is well demonstrated in patient 1, in whom a complex karyotype was identified, including an inverted insertion of the MDLS region into the middle SMS-REP/LCR17pB block, two microdeletions (terminal and interstitial in 17p12) and a microduplication involving both SMS and CMT1A chromosome regions.
Negative_regulation (block) of REP associated with syndrome
2) Confidence 0.57 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.41 Pain Relevance 0
Monocytes (CD14+ fraction) and primary skin fibroblasts from CHM patients offer research material to indirectly evaluate the effect of different mutations on the disease phenotype, as loss of function mutations in the CHM gene are present in every tissue of affected individuals.
Negative_regulation (loss) of CHM gene in fibroblasts associated with choroideremia and disease
3) Confidence 0.43 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.76 Pain Relevance 0
To study phagocytosis, secretion and intracellular trafficking in CHM patients, we are limited by the lack of functionally relevant cell culture models pertinent to the eye, which are functionally deficient in REP-1.
Negative_regulation (deficient) of REP-1 in eye associated with choroideremia
4) Confidence 0.43 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.76 Pain Relevance 0
All nonsense mutations result in a truncated protein product with unstable protein structure and loss of critical REP-1 function.
Negative_regulation (loss) of REP-1
5) Confidence 0.43 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.29 Pain Relevance 0
Under-prenylation of certain Rabs, as a result of loss of function mutations in REP-1, could affect vesicular trafficking, exocytosis and secretion in peripheral cells of CHM patients.


Negative_regulation (loss) of REP-1 associated with choroideremia
6) Confidence 0.43 Published 2009 Journal PLoS ONE Section Abstract Doc Link PMC2793004 Disease Relevance 0.61 Pain Relevance 0
A CHM-like gene in mammals encodes REP-2, which is thought to partially compensate for the lack of REP-1 in all tissues except the eye in CHM patients [10].
Negative_regulation (lack) of REP-1 in eye associated with choroideremia
7) Confidence 0.43 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.83 Pain Relevance 0
While it has been suggested that all the mutations in CHM patients lead to the loss of the REP-1, the mechanism of the loss could range from nonsense-mediated decay of the coding mRNA to the degradation of the truncated/misfolded REP-1 in the endoplasmic reticulum.
Negative_regulation (loss) of REP-1 in reticulum associated with choroideremia
8) Confidence 0.43 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.98 Pain Relevance 0
This is well demonstrated by the apparently balanced inverted insertion of the MDLS region into the middle SMS-REP/LCR17pB block in patient 1, which would have escaped attention if array CGH would have been the only technique employed.
Negative_regulation (block) of REP associated with syndrome
9) Confidence 0.42 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.39 Pain Relevance 0
In patient 1, one breakpoint is located within the middle SMS-REP/LCR17pB block, whereas in patient 2 breakpoints are located within LCR17pA (proximal Dup III), middle SMS-REP (distal Dup IV) and LCR17pC (proximal Dup IV).
Negative_regulation (block) of REP in proximal associated with syndrome
10) Confidence 0.42 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.57 Pain Relevance 0
This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of the subtelomeric region 17p13.3, and part of 17p12, and duplication of the CMT1A and SMS regions.
Negative_regulation (block) of REP associated with syndrome
11) Confidence 0.41 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.30 Pain Relevance 0
Interestingly, the MDLS region was found to be inserted into the middle SMS-REP/LCR17pB block in the genomic region involved in SMS (Fig. 3c).
Negative_regulation (block) of REP associated with syndrome
12) Confidence 0.41 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.30 Pain Relevance 0
This resulted in the insertion of the MDLS region into the middle SMS-REP/LCR17pB block, loss of telomeric 17p and part of 17p12 and duplication of the CMT1A region.
Negative_regulation (block) of REP associated with syndrome
13) Confidence 0.41 Published 2007 Journal Hum Genet Section Body Doc Link PMC1914245 Disease Relevance 0.25 Pain Relevance 0
Immunoblot analysis of protein from white blood cells of CHM patients shows that most patients lack REP-1 [5].
Negative_regulation (lack) of REP-1 in white blood cells associated with choroideremia
14) Confidence 0.38 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.90 Pain Relevance 0
Molecular modeling of the missense mutation, L550P, predicted that the structure of the protein is unstable which could be one of the mechanisms of REP-1 loss [22].
Negative_regulation (loss) of REP-1
15) Confidence 0.38 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.62 Pain Relevance 0
Corresponding rates of DQ-ovalbumin degradation were also decreased in both CHM and control monocytes 1 and 3 h following pre-treatment with bafilomycin A1 (Fig. 5D).
Negative_regulation (decreased) of CHM in monocytes associated with choroideremia
16) Confidence 0.38 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2793004 Disease Relevance 0.70 Pain Relevance 0
The need for shunting was compared between SP/TCD flow velocity reduction and the awake response (gold standard).
Negative_regulation (reduction) of TCD
17) Confidence 0.34 Published 1997 Journal J. Vasc. Surg. Section Abstract Doc Link 9423712 Disease Relevance 0 Pain Relevance 0.09
A significant decline in both TCD and rSO2 was noted in 3 patients under LA out of which 2 required shunts for alteration in conscious level.
Negative_regulation (decline) of TCD
18) Confidence 0.17 Published 2006 Journal Int Angiol Section Body Doc Link 17164748 Disease Relevance 0 Pain Relevance 0
In 2 LA patients there was a significant decline in TCD but not in rSO2 and the endarterectomy was completed without a shunt.
Negative_regulation (decline) of TCD
19) Confidence 0.17 Published 2006 Journal Int Angiol Section Body Doc Link 17164748 Disease Relevance 0 Pain Relevance 0
Children with initially abnormal TCD velocities (> or =200 cm/s) treated with regular blood transfusion for 30 months or more, which resulted in reduction of the TCD to less than 170 cm/s, were eligible for randomization into STOP II.
Negative_regulation (reduction) of TCD in blood associated with sickle cell anemia
20) Confidence 0.09 Published 2007 Journal Arch. Neurol. Section Abstract Doc Link 17998439 Disease Relevance 1.31 Pain Relevance 0.05

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