INT68267

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Context Info
Confidence 0.75
First Reported 1997
Last Reported 2010
Negated 2
Speculated 1
Reported most in Body
Documents 22
Total Number 23
Disease Relevance 11.39
Pain Relevance 8.65

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 (CACNA1A) cell death (CACNA1A) plasma membrane (CACNA1A)
nucleus (CACNA1A) transmembrane transport (CACNA1A) cytoplasm (CACNA1A)
Anatomy Link Frequency
cerebellum 3
HeLa 1
embryonic kidney 1
CACNA1A (Homo sapiens)
CACNA1A - R192Q (1)
Pain Link Frequency Relevance Heat
Migraine 202 100.00 Very High Very High Very High
Calcium channel 126 100.00 Very High Very High Very High
Neuropeptide 8 99.76 Very High Very High Very High
Neurotransmitter 43 99.04 Very High Very High Very High
Serotonin 9 98.72 Very High Very High Very High
headache 22 85.68 High High
Glutamate 16 85.28 High High
sodium channel 2 64.72 Quite High
Nav1.1 2 63.44 Quite High
Pain 5 63.16 Quite High
Disease Link Frequency Relevance Heat
Headache 157 100.00 Very High Very High Very High
Migraine With Aura 83 100.00 Very High Very High Very High
Repression 25 100.00 Very High Very High Very High
Targeted Disruption 2 99.98 Very High Very High Very High
Epilepsy 18 98.12 Very High Very High Very High
Disease 55 97.96 Very High Very High Very High
Stress 5 97.60 Very High Very High Very High
Ataxia 28 97.40 Very High Very High Very High
Cerebellar Diseases 8 95.88 Very High Very High Very High
Intellectual Impairment 3 92.32 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Here we describe the isolation, mapping, and expression analysis of Cacnl1a4, a gene encoding the alpha subunit of a proposed P-type calcium channel, and also report the physical mapping and expression patterns of the orthologous human gene.
Gene_expression (expression) of Cacnl1a4 associated with calcium channel
1) Confidence 0.75 Published 1997 Journal Mamm. Genome Section Abstract Doc Link 9060410 Disease Relevance 0.40 Pain Relevance 0.15
1A Cav 2.1) calcium channels are diffusely expressed in the brain, especially strongly in Purkinje cells and granule cells of the cerebellum (Westenbroek et al., 1995).
Gene_expression (expressed) of Cav 2.1 in cerebellum associated with calcium channel
2) Confidence 0.75 Published 2010 Journal Anatomy & Cell Biology Section Body Doc Link PMC3015039 Disease Relevance 0.32 Pain Relevance 0.36
The evolutionary and functional relationship between the UNC-2 channel and the migraine-associated CACNA1A channel was further confirmed through experiments showing that transgenic expression of human CACNA1A can suppress the lethargic and serotonin-deficient phenotypes of unc-2 mutant animals.
Gene_expression (expression) of CACNA1A associated with targeted disruption, migraine and serotonin
3) Confidence 0.74 Published 2006 Journal Headache Section Abstract Doc Link 16927961 Disease Relevance 0.47 Pain Relevance 0.59
Mutations in three different genes have been identified in FHM families: CACNA1A gene, involved in FHM type 1 (FHM1), localised to chromosome 19p13, encoding for the ?
Gene_expression (gene) of CACNA1A associated with migraine
4) Confidence 0.66 Published 2007 Journal J Headache Pain Section Body Doc Link PMC2779399 Disease Relevance 2.08 Pain Relevance 1.86
Mutations in three different genes have been identified in FHM families: CACNA1A gene, involved in FHM type 1 (FHM1), localised to chromosome 19p13, encoding for the ?
Gene_expression (families) of FHM associated with migraine
5) Confidence 0.66 Published 2007 Journal J Headache Pain Section Body Doc Link PMC2779399 Disease Relevance 2.09 Pain Relevance 1.86
We introduced the four missense mutations linked to FHM into human alpha1A-2 subunits and investigated their functional consequences after expression in human embryonic kidney 293 cells.
Spec (investigated) Gene_expression (introduced) of FHM in embryonic kidney associated with migraine
6) Confidence 0.65 Published 1999 Journal J. Neurosci. Section Abstract Doc Link 10024348 Disease Relevance 0.47 Pain Relevance 0.46
In contrast, mice bearing the R192Q CACNA1A mutation, which in humans causes a milder form of hemiplegic migraine, typically exhibit only a single CSD event after one triggering stimulus.
Gene_expression (mutation) of CACNA1A (R192Q)
7) Confidence 0.65 Published 2010 Journal Ann. Neurol. Section Body Doc Link 20186955 Disease Relevance 0.27 Pain Relevance 0
Here we describe the isolation, mapping, and expression analysis of Cacnl1a4, a gene encoding the alpha subunit of a proposed P-type calcium channel, and also report the physical mapping and expression patterns of the orthologous human gene.
Gene_expression (expression) of Cacnl1a4 associated with calcium channel
8) Confidence 0.65 Published 1997 Journal Mamm. Genome Section Abstract Doc Link 9060410 Disease Relevance 0.42 Pain Relevance 0.16
Although no mutations were detected in the FHM1 CACNA1A and FHM2 ATP1A2 genes in sporadic AHC patients, a mutation was found in the FHM2 ATP1A2 gene in a family with AHC.
Neg (no) Gene_expression (detected) of CACNA1A
9) Confidence 0.65 Published 2006 Journal Neuropediatrics Section Abstract Doc Link 17236110 Disease Relevance 0.93 Pain Relevance 0.42
A second gene for FHM was discovered recently: the ATP1A2 gene on chromosome 1q23, coding for the alpha 2 subunit of Na+,K+-ATPase.
Gene_expression (discovered) of FHM associated with migraine
10) Confidence 0.65 Published 2004 Journal Neuropediatrics Section Abstract Doc Link 15534763 Disease Relevance 0.81 Pain Relevance 0.46
CONCLUSIONS: The T666M mutation is the most frequent CACNA1A mutation in FHM; it was found in 5 of 33 FHM families at our laboratory, and in 19 of 39 families with a known mutation reported in the literature (including the present study).
Gene_expression (mutation) of CACNA1A
11) Confidence 0.65 Published 2003 Journal Arch. Neurol. Section Body Doc Link 12756131 Disease Relevance 0 Pain Relevance 0
Little is known about the regulatory mechanisms governing CACNA1A expression, although the mouse homologue does have two functional Sp1 sites (51), while the human gene contains numerous clusters of potential TFBSs, including Sp1, Pax4 and Myc (R.
Gene_expression (expression) of CACNA1A
12) Confidence 0.65 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.06 Pain Relevance 0.09
We first confirmed that expression of CACNA1A can be regulated by REST in human cells.
Gene_expression (expression) of CACNA1A
13) Confidence 0.65 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.08 Pain Relevance 0.08
The CACNA1A gene encoding Cav2.1 is highly expressed in the Purkinje cells of the cerebellum (32) and mutations in CACNA1A are responsible for a number of cerebellar disorders including migraine (33), epilepsy (34) and ataxias (35) but little is known about the transcriptional regulation of this gene.
Gene_expression (expressed) of CACNA1A in cerebellum associated with epilepsy, cerebellar diseases, ataxia and migraine
14) Confidence 0.65 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.38 Pain Relevance 0.31
We also show that transgenic expression of the migraine-associated Ca2+ channel, CACNA1A, in unc-2 animals can functionally substitute for UNC-2 in stress-activated regulation of tph expression.
Gene_expression (expression) of CACNA1A associated with stress, targeted disruption and migraine
15) Confidence 0.62 Published 2004 Journal J. Neurochem. Section Abstract Doc Link 14675154 Disease Relevance 0.59 Pain Relevance 0.59
The two new regions can open the way for the study of human CACNA1A gene expression regulation and can be sites of mutations associated with FHM or EA phenotypes.
Gene_expression (expression) of CACNA1A associated with ataxia and migraine
16) Confidence 0.60 Published 2009 Journal J. Neurol. Sci. Section Abstract Doc Link 18976783 Disease Relevance 0.66 Pain Relevance 0.32
We identified that alpha2delta-2 is completely concentrated in cholesterol-rich microdomains (lipid rafts) in cerebellum, in which it substantially colocalizes with the calcium channel alpha1 subunit CaV2.1, although CaV2.1 is also present in the Triton X-100-soluble fraction.
Gene_expression (present) of CaV2.1 in cerebellum associated with calcium channel
17) Confidence 0.58 Published 2006 Journal J. Neurosci. Section Abstract Doc Link 16928863 Disease Relevance 0 Pain Relevance 0.22
Dissecting the REST-regulatory sequences of a model gene, CACNA1A
Gene_expression (sequences) of CACNA1A
18) Confidence 0.56 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0 Pain Relevance 0.03
Virally mediated overexpression of a dominant-negative REST construct resulted in 75-fold de-repression of CACNA1A mRNA levels in HeLa cells (Figure 4A), indicating that REST is capable of strongly repressing this gene.
Gene_expression (overexpression) of CACNA1A in HeLa associated with repression
19) Confidence 0.56 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.10 Pain Relevance 0.08
We also apply the RE1 PSSM to the exhaustive analysis of the REST-regulatory apparatus of a model gene, the novel target CACNA1A.
Gene_expression (apparatus) of CACNA1A
20) Confidence 0.56 Published 2006 Journal Nucleic Acids Research Section Body Doc Link PMC1557810 Disease Relevance 0.31 Pain Relevance 0.17

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