INT262963

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Context Info
Confidence 0.59
First Reported 2007
Last Reported 2010
Negated 0
Speculated 1
Reported most in Body
Documents 4
Total Number 7
Disease Relevance 4.92
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.

cell differentiation (PAX6) nucleolus (PAX6) nucleus (PAX6)
DNA binding (PAX6) transcription factor binding (PAX6) cytoplasm (PAX6)
Anatomy Link Frequency
glial cell 1
retina 1
brain 1
astrocytes 1
forebrain 1
PAX6 (Homo sapiens)
Pain Link Frequency Relevance Heat
Spinal cord 7 81.28 Quite High
nMDA receptor 3 27.28 Quite Low
imagery 37 5.00 Very Low Very Low Very Low
Central nervous system 10 5.00 Very Low Very Low Very Low
headache 4 5.00 Very Low Very Low Very Low
Glutamate receptor 3 5.00 Very Low Very Low Very Low
agonist 3 5.00 Very Low Very Low Very Low
antagonist 3 5.00 Very Low Very Low Very Low
anesthesia 2 5.00 Very Low Very Low Very Low
Action potential 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Reprotox - General 1 4 99.84 Very High Very High Very High
Glioblastoma 16 98.92 Very High Very High Very High
Subependymal Glioma 124 98.76 Very High Very High Very High
Cancer 240 96.44 Very High Very High Very High
Neurologic Manifestations 10 96.24 Very High Very High Very High
Brain Tumor 16 94.36 High High
Congenital Anomalies 58 93.24 High High
Cognition Disorders 2 92.64 High High
Aniridia 126 92.56 High High
Digestive System Neoplasm 4 91.68 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
A 57 bp cis-regulatory element named E1E (exon 1 enhancer) in the first exon of PAX6 plays an important role in the expression of this gene in glioblastoma cell lines (23), and a powerful silencer (SX250) located between 1518 and 1268 bp from the A of the ATG codon is able to repress the promoter activity of PAX6 in cervical carcinoma and glioblastoma cell lines (22).
Negative_regulation (repress) of PAX6 associated with glioblastoma and reprotox - general 1
1) Confidence 0.59 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 1.20 Pain Relevance 0
Next, to examine allelic loss of PAX6 in the patient's tissue, we performed genomic quantitative PCR with probes designed to exons 13, 7, 6, 5, 2 and 1a of PAX6 (Figure 2), and around rs11031497 [64 296 base pairs (bp) upstream from the A of the ATG codon of PAX6 and 235 016 bp downstream of the 3?
Spec (examine) Negative_regulation (loss) of PAX6
2) Confidence 0.43 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 0.43 Pain Relevance 0
Collectively, we speculate that the defect in PAX6 may have contributed to the extremely large size of the subependymoma, due to a loss of tumor suppressor activity in glial cell lineage.



Negative_regulation (defect) of PAX6 in glial cell associated with subependymal glioma and cancer
3) Confidence 0.43 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Abstract Doc Link PMC2991767 Disease Relevance 1.00 Pain Relevance 0
Impairment of PAX6 activity will obviously affect the expression patterns of its target genes, and there is substantial evidence of associations between PAX6 mutations, brain development abnormalities, cognition disorders [11], as well as pancreatic endocrine disorders [12].
Negative_regulation (Impairment) of PAX6 in brain associated with congenital anomalies and cognition disorders
4) Confidence 0.43 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.43 Pain Relevance 0.04
Given the reports that loss of PAX6 function leads to aberrant proliferation and immature differentiation of astrocytes in rodents (16), it is reasonable to assume that the PAX6 deletions contributed to the unusual proliferation of the tumor after its independent initiation.
Negative_regulation (loss) of PAX6 in astrocytes associated with cancer
5) Confidence 0.43 Published 2010 Journal Brain Pathology (Zurich, Switzerland) Section Body Doc Link PMC2991767 Disease Relevance 1.42 Pain Relevance 0
This insertion abolishes Pax6 DNA-binding properties [3] and seems to induce, when the Pax6(+5a) isoform is overexpressed, a developmental cascade modifying the neuronal architecture of the retina [4].
Negative_regulation (abolishes) of Pax6 in retina
6) Confidence 0.43 Published 2007 Journal Molecular Vision Section Body Doc Link PMC2649307 Disease Relevance 0.44 Pain Relevance 0
Similarly, the relative absence of PAX6 in SB431542 treated cultures is in keeping with the established role of PAX6 as a key regulator of forebrain development.
Negative_regulation (absence) of PAX6 in forebrain
7) Confidence 0.31 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2752165 Disease Relevance 0 Pain Relevance 0

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