INT183556

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Context Info
Confidence 0.47
First Reported 2005
Last Reported 2005
Negated 0
Speculated 0
Reported most in Body
Documents 1
Total Number 4
Disease Relevance 1.83
Pain Relevance 0.25

This is a graph with borders and nodes. Maybe there is an Imagemap used so the nodes may be linking to some Pages.

nucleus (SNURF) molecular_function (SNURF) biological_process (SNURF)
Anatomy Link Frequency
fibroblasts 2
lymphoblasts 2
SNURF (Homo sapiens)
Pain Link Frequency Relevance Heat
Pain 8 83.88 Quite High
tolerance 8 83.56 Quite High
imagery 4 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 148 100.00 Very High Very High Very High
Macrocephaly 4 86.44 High High
Hypersomnia 12 85.52 High High
Pain 8 83.88 Quite High
Obesity 16 80.76 Quite High
Growth Problems 8 79.96 Quite High
Reprotox - General 2 8 79.36 Quite High
Muscle Hypotonia 12 77.76 Quite High
Uniparental Disomy 8 49.20 Quite Low
Cognitive Disorder 4 14.52 Low Low

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
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 SNURF in fibroblasts
1) Confidence 0.47 Published 2005 Journal BMC Med Genet Section Abstract Doc Link PMC1142316 Disease Relevance 0.57 Pain Relevance 0.13
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 SNURF in lymphoblasts associated with syndrome
2) Confidence 0.23 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 SNURF in lymphoblasts
3) Confidence 0.16 Published 2005 Journal BMC Med Genet Section Abstract Doc Link PMC1142316 Disease Relevance 0.57 Pain Relevance 0.13
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 SNURF in fibroblasts associated with syndrome
4) Confidence 0.08 Published 2005 Journal BMC Med Genet Section Body Doc Link PMC1142316 Disease Relevance 0.34 Pain Relevance 0

General Comments

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