INT271930

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Context Info
Confidence 0.69
First Reported 2008
Last Reported 2008
Negated 2
Speculated 0
Reported most in Body
Documents 1
Total Number 14
Disease Relevance 6.88
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.

cytosol (Tsc1) embryo development (Tsc1) protein complex (Tsc1)
cytoplasm (Tsc1)
Anatomy Link Frequency
brain 2
pancreas 1
lung 1
kidney 1
Tsc1 (Mus musculus)
Pain Link Frequency Relevance Heat
transdermal 14 70.28 Quite High
Angina 14 33.36 Quite Low
cerebral cortex 14 5.00 Very Low Very Low Very Low
adenocard 14 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Disease 294 100.00 Very High Very High Very High
Hamartoma 112 98.42 Very High Very High Very High
Renal Cancer 42 98.20 Very High Very High Very High
Convulsion 126 97.92 Very High Very High Very High
Cancer 280 97.16 Very High Very High Very High
Epilepsy 84 95.80 Very High Very High Very High
Anaplastic Astrocytoma 84 95.60 Very High Very High Very High
Encephalopathy 14 95.40 Very High Very High Very High
Death 56 94.20 High High
Sprains And Strains 42 92.48 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Hamartin and tuberin are coexpressed in cells of several organs, such as kidney, brain, lung, and pancreas.
Gene_expression (coexpressed) of Hamartin in pancreas
1) Confidence 0.69 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.33 Pain Relevance 0
The TSC genes TSC1 and TSC2 were first identified by positional cloning strategies.
Gene_expression (identified) of TSC1
2) Confidence 0.69 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.38 Pain Relevance 0
Hamartin is ubiquitously expressed [27], and contains a putative transmembrane domain at amino acids 127–144 and a coiled coil domain (CCD) spanning amino acids 719–998 [30].
Gene_expression (expressed) of Hamartin
3) Confidence 0.60 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.05 Pain Relevance 0
Zeng et al. [125] recently demonstrated that rapamycin has strong efficacy for preventing seizures and prolonging survival in Tsc1GFAPCKO mice, a mouse model of TSC with conditional inactivation of the Tsc1 gene in glial fibrillary acidic protein (GFAP)–positive cells (Tsc1GFAPCKO mice), which develops progressive epilepsy, encephalopathy, and premature death, as well as cellular and molecular brain abnormalities likely contributing to epileptogenesis.


Gene_expression (gene) of Tsc1 in brain associated with epilepsy, convulsion, congenital anomalies, encephalopathy and death
4) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.98 Pain Relevance 0.04
Structure of Hamartin (TSC1) and Tuberin (TSC2)
Gene_expression (Structure) of Hamartin
5) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.39 Pain Relevance 0
The frequency and nature of TSC splice site mutations reported so far are in agreement with these overall findings: in TSC1 they represent 8% and in TSC2 they comprise 12% of the total number of identified mutations.
Gene_expression (represent) of TSC1
6) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.31 Pain Relevance 0
Correspondingly, TSC1 disease is milder than TSC2 disease in multiple respects, which appears to be due to a reduced rate of second hit events [19-21].
Gene_expression (disease) of TSC1 associated with disease
7) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.55 Pain Relevance 0
Structure of Hamartin (TSC1) and Tuberin (TSC2)
Gene_expression (Structure) of TSC1
8) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.39 Pain Relevance 0
Following the identification of TSC1 and TSC2 as genes associated with human disease, murine models lacking TSC1 or TSC2 were generated by gene targeting [102].
Neg (lacking) Gene_expression (lacking) of TSC1 associated with disease
9) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 1.04 Pain Relevance 0
Following the identification of TSC1 and TSC2 as genes associated with human disease, murine models lacking TSC1 or TSC2 were generated by gene targeting [102].
Neg (lacking) Gene_expression (lacking) of TSC1 associated with disease
10) Confidence 0.59 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 1.02 Pain Relevance 0
For many years, the prevailing model has been that the hamartomas of TSC develop through a two-hit mechanism in which there is complete loss of expression of functional TSC1 or TSC2, supported by findings of loss of heterozygosity (LOH) in TSC tumour samples [23-26].
Gene_expression (expression) of TSC1 associated with cancer and hamartoma
11) Confidence 0.53 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.43 Pain Relevance 0
Hamartin and tuberin are coexpressed in cells of several organs, such as kidney, brain, lung, and pancreas.
Gene_expression (coexpressed) of Hamartin in lung
12) Confidence 0.23 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.33 Pain Relevance 0
Hamartin and tuberin are coexpressed in cells of several organs, such as kidney, brain, lung, and pancreas.
Gene_expression (coexpressed) of Hamartin in kidney
13) Confidence 0.23 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.33 Pain Relevance 0
Hamartin and tuberin are coexpressed in cells of several organs, such as kidney, brain, lung, and pancreas.
Gene_expression (coexpressed) of Hamartin in brain
14) Confidence 0.23 Published 2008 Journal Current Genomics Section Body Doc Link PMC2691673 Disease Relevance 0.33 Pain Relevance 0

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