INT249135

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Context Info
Confidence 0.76
First Reported 2008
Last Reported 2008
Negated 3
Speculated 0
Reported most in Body
Documents 1
Total Number 29
Disease Relevance 4.18
Pain Relevance 0.04

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

cytoskeleton (Was) protein complex assembly (Was) cytoplasm (Was)
Anatomy Link Frequency
T cells 9
thymocytes 7
white blood cells 3
lymphocyte 2
blood cells 2
Was (Mus musculus)
Pain Link Frequency Relevance Heat
tolerance 29 75.16 Quite High
adenocard 29 37.28 Quite Low
cytokine 29 5.00 Very Low Very Low Very Low
cva 29 5.00 Very Low Very Low Very Low
backache 29 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 406 98.82 Very High Very High Very High
Wiskott-aldrich Syndrome 783 98.06 Very High Very High Very High
Epstein-barr Virus 29 81.76 Quite High
Thrombocytopenia 58 76.20 Quite High
Hemorrhage 58 75.24 Quite High
Immunodeficiency 87 74.08 Quite High
Targeted Disruption 29 66.00 Quite High
Apoptosis 29 65.52 Quite High
Disorder Of Purine Or Pyrimidine Metabolism 29 37.28 Quite Low
Cancer 87 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
In contrast, the results for the patients clearly showed multiple peaks in T cell genomic DNA and in T cell RNA (Figure 5 rows 2, 3), demonstrating that “full length” WASP protein detected by Western blot of patient T cells is a mixture of differently “corrected” WASP proteins synthesized by cells expressing different somatic alleles.
Gene_expression (synthesized) of WASP in T cells
1) Confidence 0.76 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
In contrast, the results for the patients clearly showed multiple peaks in T cell genomic DNA and in T cell RNA (Figure 5 rows 2, 3), demonstrating that “full length” WASP protein detected by Western blot of patient T cells is a mixture of differently “corrected” WASP proteins synthesized by cells expressing different somatic alleles.
Gene_expression (detected) of WASP in T cells
2) Confidence 0.76 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
Of note, the intensity of fluorescent label, an approximate measure of WASP density, was comparable for the WASP-positive subset of patient T cells and normal T cells (Figure 1A, right), suggesting that patient cells that express WASP do so at normal or near normal levels.
Gene_expression (express) of WASP in T cells
3) Confidence 0.76 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.06 Pain Relevance 0
Because cells of previously studied WAS patients with truncation mutations have revealed little or no WASP [4], [21], we used flow cytometry to determine whether any WASP is expressed in the brothers' cells.
Gene_expression (expressed) of WASP associated with wiskott-aldrich syndrome
4) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.23 Pain Relevance 0
These T lymphocytes must either express more truncated WASP than other cells bearing the same genotype or they are WASP-positive because they bear a somatic allele.
Gene_expression (express) of WASP in T lymphocytes
5) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.06 Pain Relevance 0
This strongly suggests that natural selection within lymphocyte populations favors the survival and proliferation of cells expressing these VCA domain-restoring alleles over cells expressing the inherited WASP?
Gene_expression (expressing) of WASP in lymphocyte
6) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.08 Pain Relevance 0
Thus, we propose that, in addition to the deleterious effects conferred by the absence of functional WASP, the patients' thymocytes expressing WASP?
Gene_expression (expressing) of WASP in thymocytes
7) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
We conclude that for WASP mutations resulting in no protein expression at all, N-WASP partially compensates for lack of WASP in supporting the DN3 to DP transition, but that WASP?
Gene_expression (mutations) of WASP
8) Confidence 0.66 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
VCA) confers an extreme disadvantage in early developing thymocytes, above and beyond the known cost of absence of full-length WASP, and that the disadvantage likely occurs through dominant negative competition of WASP?
Neg (negative) Gene_expression (negative) of WASP in thymocytes
9) Confidence 0.66 Published 2008 Journal PLoS ONE Section Abstract Doc Link PMC2567846 Disease Relevance 0.05 Pain Relevance 0
WASP is expressed only in white blood cells; its closely related homolog N-WASP is broadly expressed.
Gene_expression (expressed) of WASP in white blood cells
10) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.85 Pain Relevance 0
WASP is also expressed in other white blood cells: monocytes, neutrophils, NK lymphocytes and platelets, where its actin remodeling activity contributes to migration, phagocytosis and other functions (reviewed in [14]).
Gene_expression (expressed) of WASP in white blood cells
11) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.07 Pain Relevance 0
As a result of selection for somatic alleles, the brothers' lymphocyte compartments are somatic mosaics and their gene-corrected cells are identifiable by WASP expression.
Gene_expression (expression) of WASP in lymphocyte
12) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
Immune dysfunction in this disease varies from mild to life-threatening, depending to a large extent on whether the inherited mutation supports expression of some level of WASP in the patient's blood cells (milder disease) or leads to WASP absence (severe disease) [4].
Gene_expression (expression) of WASP in blood cells associated with disease
13) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 1.10 Pain Relevance 0
WASP is expressed only in white blood cells; its closely related homolog N-WASP is broadly expressed.
Gene_expression (expressed) of WASP in white blood cells
14) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.81 Pain Relevance 0
Whereas deletion of N-WASP on a wild type background did not alter T cell development, deletion of both WASP and N-WASP severely compromised T cell development, producing a phenotype similar to that of wasp?
Gene_expression (producing) of wasp in T cell
15) Confidence 0.57 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
Whereas deletion of N-WASP on a wild type background did not alter T cell development, deletion of both WASP and N-WASP severely compromised T cell development, producing a phenotype similar to that of wasp?
Gene_expression (compromised) of WASP in T cell
16) Confidence 0.57 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0 Pain Relevance 0
These T lymphocytes must either express more truncated WASP than other cells bearing the same genotype or they are WASP-positive because they bear a somatic allele.
Gene_expression (express) of WASP-positive in T lymphocytes
17) Confidence 0.57 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.06 Pain Relevance 0
Of note, the effect of germline WASP?
Gene_expression (effect) of WASP in germline
18) Confidence 0.57 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.07 Pain Relevance 0
Of note, the intensity of fluorescent label, an approximate measure of WASP density, was comparable for the WASP-positive subset of patient T cells and normal T cells (Figure 1A, right), suggesting that patient cells that express WASP do so at normal or near normal levels.
Gene_expression (subset) of WASP-positive in T cells
19) Confidence 0.57 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2567846 Disease Relevance 0.06 Pain Relevance 0
Based on the finding of multiple somatic mutations, the known maturation pathway for T-lineage cells and the known defects of T cells and precursor thymocytes in mice with truncated WASP, we hypothesize that the presence of truncated WASP (WASP?
Gene_expression (presence) of WASP in thymocytes
20) Confidence 0.57 Published 2008 Journal PLoS ONE Section Abstract Doc Link PMC2567846 Disease Relevance 0.16 Pain Relevance 0

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