INT183537

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Context Info
Confidence 0.64
First Reported 2005
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 16
Total Number 17
Disease Relevance 5.07
Pain Relevance 0.28

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RNA binding (SNRPN) nucleus (SNRPN)
Anatomy Link Frequency
fibroblasts 4
lymphoblasts 2
myometrium 1
SNRPN (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 24 83.64 Quite High
tolerance 24 83.32 Quite High
cerebral cortex 2 58.96 Quite High
cytokine 21 5.00 Very Low Very Low Very Low
imagery 16 5.00 Very Low Very Low Very Low
chemokine 10 5.00 Very Low Very Low Very Low
Mechanotransduction 8 5.00 Very Low Very Low Very Low
Inflammation 5 5.00 Very Low Very Low Very Low
Dismenorea 4 5.00 Very Low Very Low Very Low
anesthesia 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 444 100.00 Very High Very High Very High
Cold Sores 203 99.36 Very High Very High Very High
Acquired Immune Deficiency Syndrome Or Hiv Infection 44 98.80 Very High Very High Very High
Infection 92 96.80 Very High Very High Very High
Immunodeficiency 14 96.60 Very High Very High Very High
Macrocephaly 12 86.20 High High
Disease 62 85.56 High High
Hypersomnia 36 85.28 High High
Pain 24 83.64 Quite High
Obesity 48 80.52 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Fine mapping of the breakpoint by SNRPN expression and Southern blot analysis
Gene_expression (expression) of SNRPN
1) Confidence 0.64 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0 Pain Relevance 0
The small nuclear ribonucleoprotein polypeptide N (MIM# 182279; SNRPN) gene was the first gene with a known function to be mapped to the PWS/AS deletion region, and is expressed from the paternal chromosome only [14-17].
Gene_expression (expressed) of SNRPN associated with syndrome
2) Confidence 0.64 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.46 Pain Relevance 0
The small nuclear ribonucleoprotein polypeptide N (MIM# 182279; SNRPN) gene was the first gene with a known function to be mapped to the PWS/AS deletion region, and is expressed from the paternal chromosome only [14-17].
Gene_expression (expressed) of nuclear ribonucleoprotein polypeptide N associated with syndrome
3) Confidence 0.64 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.52 Pain Relevance 0
To further refine the breakpoint, we carried out quantitative RT-PCR and RT-PCR experiments using RNA from an LCL and skin fibroblasts (FB) for expression of SNRPN transcripts.
Gene_expression (expression) of SNRPN in fibroblasts
4) Confidence 0.63 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0 Pain Relevance 0
With the caveat that studies on peripheral tissues, fibroblasts and lymphoblasts, may not accurately reflect gene expression in the brain, our results indicate that SNURF/SNRPN and the centromeric genes MKRN3, NDN and MAGEL2 are unlikely to play a prime role in the causation of PWS-associated features, although it remains an open question whether their loss or non-functioning might contribute to the more marked phenotypic expression that is seen in typical PWS.


Gene_expression (expression) of SNRPN in lymphoblasts associated with syndrome
5) Confidence 0.63 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.34 Pain Relevance 0
By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not.


Gene_expression (expressed) of SNRPN in fibroblasts
6) Confidence 0.57 Published 2005 Journal BMC Med Genet Section Abstract Doc Link PMC1142316 Disease Relevance 0.57 Pain Relevance 0.13
Preliminary FISH analysis showed that the breakpoint in 15q11 was located between D15S11 and GABRB3, which flank the SNRPN locus (data not shown).
Gene_expression (locus) of SNRPN
7) Confidence 0.55 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.06 Pain Relevance 0
Expression of the three imprinted genes MKRN3, MAGEL2, and NDN upstream of SNRPN was tested by RT-PCR in t(4;15) fibroblasts and found to be indistinguishable from expression in normal control fibroblasts (data not shown).


Gene_expression (Expression) of SNRPN in fibroblasts
8) Confidence 0.49 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0 Pain Relevance 0
These results predict that expression of the genes located centromeric to the SNRPN exon 1/ IC region, NDN, MAGEL2 and MKRN3, should not be affected in these individuals.
Gene_expression (expression) of SNRPN
9) Confidence 0.49 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.18 Pain Relevance 0
Two ESTs, AK094315 and AB061718 (= HBT8) located in the 30 kb SNRPN intron 20 were not expressed in the PWS control [6] and t(4;15) LCLs, but were expressed in the normal control LCL (Fig. 7).


Neg (not) Gene_expression (expressed) of SNRPN associated with syndrome
10) Confidence 0.49 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.24 Pain Relevance 0
With the caveat that studies on peripheral tissues, fibroblasts and lymphoblasts, may not accurately reflect gene expression in the brain, our results indicate that SNURF/SNRPN and the centromeric genes MKRN3, NDN and MAGEL2 are unlikely to play a prime role in the causation of PWS-associated features, although it remains an open question whether their loss or non-functioning might contribute to the more marked phenotypic expression that is seen in typical PWS.


Gene_expression (expression) of SNRPN in fibroblasts associated with syndrome
11) Confidence 0.22 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.34 Pain Relevance 0
By RT-PCR of lymphoblasts and fibroblasts, we find that upstream SNURF/SNRPN exons and snoRNAs HBII-437 and HBII-13 are expressed, but the downstream snoRNAs PWCR1/HBII-85 and HBII-438A/B snoRNAs are not.


Gene_expression (expressed) of SNRPN in lymphoblasts
12) Confidence 0.19 Published 2005 Journal BMC Med Genet Section Abstract Doc Link PMC1142316 Disease Relevance 0.57 Pain Relevance 0.13
The NF value, used for normalization of RT-qPCR, was calculated based on the geometric mean of the expression levels of these three most stable control genes.
Gene_expression (expression) of RT-qPCR
13) Confidence 0.02 Published 2010 Journal Genome Biol Section Body Doc Link PMC2847721 Disease Relevance 0.07 Pain Relevance 0.03
The NF value, used for normalization of RT-qPCR, was calculated based on the geometric mean of the expression levels of these three most stable control genes.
Gene_expression (expression) of RT-qPCR
14) Confidence 0.02 Published 2010 Journal Genome Biol Section Body Doc Link PMC2847721 Disease Relevance 0 Pain Relevance 0
SmAV protein expression increases significantly during pregnancy in human myometrium (Fig. 7B).
Gene_expression (expression) of SmAV protein in myometrium
15) Confidence 0.02 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2759504 Disease Relevance 0.07 Pain Relevance 0
On immunoblot, we found that SmAV protein expression increases significantly in the rat at day 16 of pregnancy but continues to rise significantly at day 20.
Gene_expression (expression) of SmAV protein
16) Confidence 0.02 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2759504 Disease Relevance 0 Pain Relevance 0
SHIV-RT, which expresses the reverse transcriptase of HIV in the context of SIV, was chosen as our challenge immunodeficiency virus since we intended to test the efficacy of a new generation NNRTI-containing microbicide gel in HSV-2-infected animals, which has been shown to be effective in HSV-2 naïve animals [28].
Gene_expression (expresses) of SHIV-RT associated with cold sores, acquired immune deficiency syndrome or hiv infection and immunodeficiency
17) Confidence 0.01 Published 2009 Journal PLoS ONE Section Body Doc Link PMC2787245 Disease Relevance 1.65 Pain Relevance 0

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