INT277546

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Context Info
Confidence 0.51
First Reported 2009
Last Reported 2009
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 4
Disease Relevance 2.42
Pain Relevance 0

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
retina 1
hair cells 1
cochlear hair cells 1
Clrn1 (Mus musculus)
Pain Link Frequency Relevance Heat
medulla 12 5.00 Very Low Very Low Very Low
ketamine 8 5.00 Very Low Very Low Very Low
anesthesia 4 5.00 Very Low Very Low Very Low
Glutamate 4 5.00 Very Low Very Low Very Low
imagery 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Deafness 56 100.00 Very High Very High Very High
Targeted Disruption 272 98.80 Very High Very High Very High
Hearing Impairment 8 96.60 Very High Very High Very High
Usher Syndrome 144 93.08 High High
Retina Disease 144 88.68 High High
Nonsyndromic Deafness 4 74.72 Quite High
Blindness 32 49.44 Quite Low
Disease 36 5.00 Very Low Very Low Very Low
Ganglion Cysts 16 5.00 Very Low Very Low Very Low
Death 8 5.00 Very Low Very Low Very Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Finally, it also seems reasonable to suggest that degeneration in the mouse retina could be dependent upon the expression of gain-of-function mutant CLRN1 proteins, and not simply the loss of CLRN1 altogether, as in the case of the total KO.
Negative_regulation (loss) of CLRN1 in retina associated with targeted disruption
1) Confidence 0.51 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719914 Disease Relevance 0.27 Pain Relevance 0
These data suggest that loss of hearing function precedes cell loss in the cochlea: within several months of birth, the absence of CLRN1 protein(s) cause damage evidenced by progressive morphological disruption, proceeding to eventual complete loss of the primary sensory hair cells.
Negative_regulation (absence) of CLRN1 protein in hair cells
2) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719914 Disease Relevance 0.54 Pain Relevance 0
More importantly in terms of therapy, human USH3 hearing loss is progressive, in contrast to congenital hearing deficits in USH1 and USH2.
Negative_regulation (loss) of USH3 associated with deafness
3) Confidence 0.43 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719914 Disease Relevance 0.88 Pain Relevance 0
We show here that the loss of CLRN1 results in progressive degeneration and loss of cochlear hair cells and early-onset hearing impairment.
Negative_regulation (loss) of CLRN1 in cochlear hair cells associated with hearing impairment
4) Confidence 0.38 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719914 Disease Relevance 0.73 Pain Relevance 0

General Comments

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