INT236517

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Context Info
Confidence 0.65
First Reported 2008
Last Reported 2010
Negated 0
Speculated 0
Reported most in Body
Documents 8
Total Number 19
Disease Relevance 5.18
Pain Relevance 0.77

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

transport (Cacna1f)
Anatomy Link Frequency
spleen 2
retina 1
synapses 1
Cacna1f (Mus musculus)
Pain Link Frequency Relevance Heat
amygdala 12 97.16 Very High Very High Very High
long-term potentiation 24 96.52 Very High Very High Very High
Hippocampus 12 94.72 High High
Glutamate 55 94.32 High High
Neurotransmitter 91 86.56 High High
Action potential 36 73.28 Quite High
depression 14 65.44 Quite High
Glutamate receptor 12 49.52 Quite Low
addiction 36 45.56 Quite Low
Calcium channel 42 23.48 Low Low
Disease Link Frequency Relevance Heat
Channelopathies 204 100.00 Very High Very High Very High
Disease 168 100.00 Very High Very High Very High
Deafness 12 99.52 Very High Very High Very High
Anxiety Disorder 24 99.00 Very High Very High Very High
Night Blindness 136 97.20 Very High Very High Very High
Syndrome 72 96.80 Very High Very High Very High
Targeted Disruption 83 95.92 Very High Very High Very High
Arrhythmia Under Development 12 92.36 High High
Heart Rate Under Development 12 91.12 High High
Congenital Anomalies 12 90.84 High High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Taken together, these results suggest that the CACNA1F gene mutation in the mice we were testing was identical to that in the line originally described, and that the inherited defect in our colony was not the result of a random genetic mutation or a deletion of the ETn element from exon 2.
Gene_expression (mutation) of CACNA1F gene
1) Confidence 0.65 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0.13 Pain Relevance 0.03
This hypothesis is supported by previous studies, which have shown that R508Q and L1364H mutations of CACNA1F linked to CSNB2 reduce the amount of functional protein in the membrane, without significantly altering the biophysical properties of the channel [15].
Gene_expression (mutations) of CACNA1F
2) Confidence 0.65 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0.10 Pain Relevance 0
As shown in Figure 6, the electrophysiological properties of Cav1.4nob2 are not significantly different from those of Cav1.4wt when expressed in tsA-201 cells, with either 20 mM Ba2+ or 2 mM Ca2+ as charge carrier, suggesting that the differences between Cacna1fnob2 and Cacna1fwt mice do not arise from changes in the activation or inactivation characteristics of the Cav1.4 channels.
Gene_expression (expressed) of Cav1.4wt
3) Confidence 0.65 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0 Pain Relevance 0
Since our findings differ substantially from those reported previously [22], it was necessary to ensure that the CACNA1F gene mutation in the Cacna1fnob2 mouse line that we were testing was the same as that originally described.
Gene_expression (mutation) of CACNA1F gene
4) Confidence 0.65 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0.08 Pain Relevance 0
It took several years until cloned Cav1.4 channel complexes could be functionally expressed in mammalian cells [44] to investigate their functional and pharmacological properties [4, 19, 20, 44, 53, 58, 59].
Gene_expression (expressed) of Cav1.4
5) Confidence 0.63 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.10 Pain Relevance 0.12
However, McRory et al. found that two missense mutations, G674D and A928D, and the W1459X truncation mutation in the C-terminus exerted no detectable changes in the activation, inactivation, or conductance properties of expressed Cav1.4 channels.
Gene_expression (expressed) of Cav1.4
6) Confidence 0.63 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0 Pain Relevance 0
For analysis of Cav1.4wt or Cav1.4nob2 expression by polyacrylamide gel electrophoresis, protein concentrations in spleen lysates were determined using a DC protein assay kit (BioRad), and equal total protein was loaded into each lane.
Gene_expression (expression) of Cav1.4wt in spleen
7) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0 Pain Relevance 0
For analysis of Cav1.4wt or Cav1.4nob2 expression by polyacrylamide gel electrophoresis, protein concentrations in spleen lysates were determined using a DC protein assay kit (BioRad), and equal total protein was loaded into each lane.
Gene_expression (expression) of Cav1.4nob2 in spleen
8) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0 Pain Relevance 0
Full length mouse Cav1.4 cDNA (Cav1.4wt; [47] was subcloned into pCDNA3.1zeo, and the Cav1.4nob2 splice variant was synthesized using site-directed mutagenesis and Not I and Spe I restriction enzymes.
Gene_expression (synthesized) of Cav1.4nob2
9) Confidence 0.59 Published 2008 Journal PLoS ONE Section Body Doc Link PMC2432030 Disease Relevance 0 Pain Relevance 0
Cav1.4 channelopathies (CACNA1F gene)
Gene_expression (gene) of CACNA1F associated with channelopathies
10) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 1.29 Pain Relevance 0
Cav1.1 and Cav1.4 possess a much more restricted expression pattern, with expression almost exclusively in skeletal muscle and the retina, respectively.
Gene_expression (expression) of Cav1.4 in retina
11) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.16 Pain Relevance 0.19
Fig. 3Mutations in Ca2+ channel Cav1.4 ?
Gene_expression (channel) of Cav1.4
12) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.27 Pain Relevance 0
Fig. 4Functional CSNB2 mutations in Cav1.4 ?
Gene_expression (mutations) of Cav1.4
13) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0 Pain Relevance 0.12
Moreover, pre-mature stop codons in regions followed by splice sites at a distance of 50–55 nucleotides downstream-yield mRNAs should be eliminated by nonsense-mediated mRNA decay [48] and thus might not even lead to expression of the truncated Cav1.4 ?
Gene_expression (expression) of Cav1.4
14) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.07 Pain Relevance 0.06
Cav1.4 channelopathies (CACNA1F gene)
Gene_expression (channelopathies) of Cav1.4 associated with channelopathies
15) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 1.30 Pain Relevance 0
Like other VGCCs (such as Cav1.2 and Cav1.3) Cav1.4 channels are capable of undergoing robust CDI in a CaM-dependent manner [67] when this inhibitory domain is removed.
Gene_expression (channels) of Cav1.4
16) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.20 Pain Relevance 0.03
Cav1.4 channelopathies (CACNA1F gene)
Gene_expression (channelopathies) of CACNA1F associated with channelopathies
17) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 1.30 Pain Relevance 0
So far, more than 40 structural aberrations were identified in the Cav1.4 ?
Gene_expression (identified) of Cav1.4
18) Confidence 0.54 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.09 Pain Relevance 0.08
1 subunit, Cav1.4 (see references in [44]), which carries the disease-related mutations, and is preferentially expressed in retinal synapses [5, 16].
Gene_expression (expressed) of Cav1.4 in synapses associated with disease
19) Confidence 0.49 Published 2010 Journal Pflugers Arch Section Body Doc Link PMC2883925 Disease Relevance 0.10 Pain Relevance 0.13

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