INT85168

Context Info Confidence 0.02 First Reported 1999 Last Reported 2009 Negated 1 Speculated 0 Reported most in Body Documents 5 Total Number 5 Disease Relevance 0.32 Pain Relevance 0.72

Anatomy Link Frequency Liver 1 Om (Mus musculus) Om - F1760C (1) Om - I304N (1)

Pain Link Frequency Relevance Heat lidocaine 4 97.24 agonist 12 84.16 sodium channel 3 76.24 antagonist 28 64.24 local anesthetic 1 58.36 anesthesia 2 57.60 imagery 13 56.56 Calcium channel 6 41.48 allodynia 4 5.00 addiction 4 5.00

Disease Link Frequency Relevance Heat Gangliosidoses 2 75.00 Apoptosis 3 67.44 Death 1 60.24 Fragile X Syndrome 21 50.00 Sprains And Strains 4 35.68 Epstein-barr Virus 2 9.08 Targeted Disruption 14 5.00 Intellectual Impairment 9 5.00 Disease 9 5.00 Neuropathic Pain 6 5.00

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

While menthol decreased the gating charge of the wild-type channel, the mutant channel gating charge was unaffected.

Neg (unaffected) Negative_regulation (unaffected) of mutant

1) Confidence 0.02 Published 2009 Journal Mol Pain Section Body Doc Link PMC2778643 Disease Relevance 0 Pain Relevance 0.14

There was a statistically significant decrease in b/a ratios in mutant compared to wild type mice.

Negative_regulation (decrease) of mutant

2) Confidence 0.01 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0 Pain Relevance 0

The I304N mutation in FMRP abrogates binding to high affinity in vitro selected KH2 target RNA ligands (kcRNA) but not RGG target (G-quartet) RNAs, as assessed with both full-length FMRP and isolated RNA binding domains [51],[64], indicating that KH-specific RNA interactions are lost in the I304N mutant in vitro.

Negative_regulation (lost) of I304N mutant (I304N)

3) Confidence 0.01 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2779495 Disease Relevance 0 Pain Relevance 0

The covalent-modifying agent MTS-ET enhanced use-dependent current reduction of the F1760C mutant channel only.

Negative_regulation (reduction) of F1760C mutant (F1760C)

4) Confidence 0.01 Published 2005 Journal J. Membr. Biol. Section Abstract Doc Link 16477531 Disease Relevance 0 Pain Relevance 0.53

Liver IGF-I messenger RNA and pituitary GH messenger RNA both were reduced significantly in GM1 mutant cats.

Negative_regulation (reduced) of GM1 mutant in Liver

5) Confidence 0.00 Published 1999 Journal Endocrinology Section Abstract Doc Link 10579334 Disease Relevance 0.32 Pain Relevance 0.06

General Comments

This test has worked.