INT80338

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Context Info
Confidence 0.78
First Reported 1999
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 10
Total Number 13
Disease Relevance 4.06
Pain Relevance 1.09

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

small molecule metabolic process (SPTLC1) endoplasmic reticulum (SPTLC1) biosynthetic process (SPTLC1)
transferase activity, transferring acyl groups (SPTLC1)
Anatomy Link Frequency
skin 3
B cells 1
facet 1
dorsal root ganglia 1
SPTLC1 (Homo sapiens)
Pain Link Frequency Relevance Heat
Hsan 25 100.00 Very High Very High Very High
Peripheral nervous system 2 94.00 High High
Pain 16 92.52 High High
unmyelinated 12 86.88 High High
Inflammation 41 60.88 Quite High
Paracetamol 2 47.16 Quite Low
COX-2 inhibitor 12 17.56 Low Low
Inflammatory mediators 8 5.00 Very Low Very Low Very Low
gABA 6 5.00 Very Low Very Low Very Low
Visceral pain 6 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Hereditary Sensory And Autonomic Neuropathies 170 100.00 Very High Very High Very High
Disease 21 97.24 Very High Very High Very High
Neurodegenerative Disease 2 92.68 High High
Pain 14 92.52 High High
Injury 14 82.68 Quite High
Necrosis 1 82.52 Quite High
Apoptosis 1 82.00 Quite High
Death 1 81.56 Quite High
Attention Deficit Hyperactivity Disorder 6 69.04 Quite High
Muscle Hypotonia 14 67.16 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
We report here that the gene encoding a subunit of serine palmitoyltransferase is located within the HSN1 locus, expressed in dorsal root ganglia (DRG) and mutated in HSN1.
Gene_expression (expressed) of HSN1 in dorsal root ganglia
1) Confidence 0.78 Published 2001 Journal Nat. Genet. Section Abstract Doc Link 11242106 Disease Relevance 0.17 Pain Relevance 0.17
Prognosis for the HSAN disorders is improving and they can no longer be considered only as diseases of childhood.
Gene_expression (Prognosis) of HSAN associated with disease and hereditary sensory and autonomic neuropathies
2) Confidence 0.56 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2098750 Disease Relevance 0.65 Pain Relevance 0.05
Four missense mutations (C133W, C133Y, V144D and G387A) in SPTLC1 were reported to cause HSAN I.
Gene_expression (cause) of SPTLC1 associated with hereditary sensory and autonomic neuropathies
3) Confidence 0.55 Published 2009 Journal Neurogenetics Section Abstract Doc Link 19132419 Disease Relevance 0.67 Pain Relevance 0.21
This review discusses diagnosis, neuropathology, and clinical expression of the HSAN disorders in general, as well as the specific characteristics that help differentiate the three most common disorders, HSAN II through IV, as they have been the most intensively studied.


Gene_expression (expression) of HSAN associated with hereditary sensory and autonomic neuropathies
4) Confidence 0.50 Published 2007 Journal Orphanet J Rare Dis Section Body Doc Link PMC2098750 Disease Relevance 1.16 Pain Relevance 0.22
Furthermore, the growth phenotype of LY-B cells--a SPTLC1 deficient CHO cell line--could be reversed by expressing either the wild-type SPTLC1 or the G387A mutant, but not the C133W mutant.
Gene_expression (expressing) of SPTLC1 in B cells
5) Confidence 0.49 Published 2009 Journal Neurogenetics Section Abstract Doc Link 19132419 Disease Relevance 0.66 Pain Relevance 0.17
Therefore, the neurodegeneration in HSN1 is likely to be caused by subtler and rather long-term effect(s) of these mutations such as loss of a cell-type selective facet of sphingolipid metabolism and/or function, or perhaps accumulation of toxic species, including abnormal protein(s) as in other neurodegenerations.
Gene_expression (neurodegeneration) of HSN1 in facet
6) Confidence 0.25 Published 2004 Journal Biochim. Biophys. Acta Section Abstract Doc Link 14990347 Disease Relevance 0.31 Pain Relevance 0.06
From its expression pattern and its chromosomal localization, PHF2 is a candidate gene for hereditary sensory neuropathy type I, HSN1.
Gene_expression (expression) of HSN1 associated with hsan
7) Confidence 0.20 Published 1999 Journal Mamm. Genome Section Abstract Doc Link 10051327 Disease Relevance 0.10 Pain Relevance 0.10
In order to investigate the effect of skin phototype of the EM donor on the potential for PGE2 production in response to AA, data from all SPT-1 and SPT-4 EM cultures were pooled by skin phototype (Figure 1B).
Gene_expression (cultures) of SPT-1 in skin
8) Confidence 0.14 Published 2010 Journal Pigment Cell & Melanoma Research Section Body Doc Link PMC2881306 Disease Relevance 0 Pain Relevance 0
In order to investigate the effect of skin phototype of EM donor on PGE2 production in response to UVB, data for all SPT-1 and SPT-4 EM cultures were pooled separately (Figure 4B).
Gene_expression (cultures) of SPT-1 in skin
9) Confidence 0.14 Published 2010 Journal Pigment Cell & Melanoma Research Section Body Doc Link PMC2881306 Disease Relevance 0.18 Pain Relevance 0.06
In order to investigate the effect of skin phototype of EM donor on PGE2 production in response to UVB, data for all SPT-1 and SPT-4 EM cultures were pooled separately (Figure 4B).
Gene_expression (data) of SPT-1 in skin
10) Confidence 0.14 Published 2010 Journal Pigment Cell & Melanoma Research Section Body Doc Link PMC2881306 Disease Relevance 0.18 Pain Relevance 0.06
Data showed that EM from SPT-1 donors produced on average more PGE2 than EM derived from individuals with SPT-4 in response to AA (i.e.
Gene_expression (produced) of SPT-1
11) Confidence 0.11 Published 2010 Journal Pigment Cell & Melanoma Research Section Body Doc Link PMC2881306 Disease Relevance 0 Pain Relevance 0
In contrast, SSR was preserved in all HSAN III and absent in all HSAN IV patients.
Neg (absent) Gene_expression (preserved) of HSAN
12) Confidence 0.09 Published 1999 Journal Neurology Section Body Doc Link 10331694 Disease Relevance 0 Pain Relevance 0
C: 5.13 (Hsn-2)/172.4, 172.6 (COO); 4.34 and 4.13 (Hsn-1)/172.4, 172.6 (COO); 2.28 (?
Gene_expression (/) of Hsn-1
13) Confidence 0.03 Published 2010 Journal Marine Drugs Section Body Doc Link PMC2866487 Disease Relevance 0 Pain Relevance 0

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