INT354955

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Context Info
Confidence 0.78
First Reported 2010
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 1
Total Number 14
Disease Relevance 3.23
Pain Relevance 0.45

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

plasma membrane (Shank3) cytoplasm (Shank3)
Anatomy Link Frequency
neurons 2
cerebellar granule cells 1
spine 1
proximal 1
Shank3 (Mus musculus)
Pain Link Frequency Relevance Heat
long-term potentiation 322 98.96 Very High Very High Very High
Neurobehavioral 56 92.64 High High
Hippocampus 28 35.40 Quite Low
Glutamate receptor 56 35.20 Quite Low
depression 98 19.44 Low Low
imagery 70 5.00 Very Low Very Low Very Low
Pyramidal cell 42 5.00 Very Low Very Low Very Low
nMDA receptor 28 5.00 Very Low Very Low Very Low
tetrodotoxin 14 5.00 Very Low Very Low Very Low
nMDA receptor antagonist 14 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Syndrome 210 100.00 Very High Very High Very High
Targeted Disruption 98 98.48 Very High Very High Very High
Asperger Syndrome 14 97.84 Very High Very High Very High
Tuberous Sclerosis 14 93.24 High High
Schizophrenia 28 82.12 Quite High
Epilepsy 14 76.72 Quite High
Aggression 14 74.52 Quite High
Anxiety Disorder 14 74.04 Quite High
Autism 42 72.04 Quite High
Cognitive Disorder 28 69.84 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Furthermore, inhibition of Shank3 expression has been shown to reduce numbers of spines in hippocampal neurons in culture and, conversely, when Shank3 was introduced into aspiny cerebellar neurons in vitro, the neurons developed spines with functional glutamatergic synapses expressing NMDA, AMPA and mGlu receptors [19].


Gene_expression (expression) of Shank3 in neurons
1) Confidence 0.78 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.36 Pain Relevance 0
It is therefore possible that our Shank3-deficient mice are still expressing shorter forms of Shank3 protein.
Gene_expression (expressing) of Shank3
2) Confidence 0.78 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0 Pain Relevance 0
Interestingly, overexpression of SHANK3 may also result in an ASD as evidenced by reports of Asperger syndrome in an individual with three copies of the SHANK3 locus [27].
Gene_expression (overexpression) of SHANK3 associated with asperger syndrome
3) Confidence 0.78 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.45 Pain Relevance 0.08
Finally, several recent studies demonstrated that even de novo point mutations in SHANK3 can produce the entirety of neurodevelopmental symptoms of 22q13DS, including global developmental delay, absent or severely delayed expressive speech, and ASDs [26-28].
Gene_expression (produce) of SHANK3
4) Confidence 0.78 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.45 Pain Relevance 0.09
Transfection of Shank3 into aspiny cerebellar granule cells has been shown to induce an increase in the AMPA component of mEPSCs [19], and Shank3 is colocalized with GluR1-containing AMPA receptor in typical spines [53].
Gene_expression (Transfection) of Shank3 in cerebellar granule cells
5) Confidence 0.68 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0 Pain Relevance 0
Synaptic plasticity and spine remodelling in Shank3 heterozygotes
Gene_expression (heterozygotes) of Shank3 in spine
6) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0 Pain Relevance 0.17
Synaptic development and function in Shank3 heterozygotes
Gene_expression (heterozygotes) of Shank3
7) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0 Pain Relevance 0
Social behavior in Shank3 heterozygotes
Gene_expression (heterozygotes) of Shank3
8) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.07 Pain Relevance 0.08
The use of model systems such as the Shank3-deficient mice reported here could lead to similar advances in the case of SHANK3-haploinsufficiency syndromes.
Gene_expression (syndromes) of SHANK3-haploinsufficiency associated with syndrome
9) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.65 Pain Relevance 0
Behavioral analyses of Shank3 heterozygotes
Gene_expression (heterozygotes) of Shank3
10) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0 Pain Relevance 0
Furthermore, inhibition of Shank3 expression has been shown to reduce numbers of spines in hippocampal neurons in culture and, conversely, when Shank3 was introduced into aspiny cerebellar neurons in vitro, the neurons developed spines with functional glutamatergic synapses expressing NMDA, AMPA and mGlu receptors [19].


Gene_expression (introduced) of Shank3 in neurons
11) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.39 Pain Relevance 0
It is therefore possible that our Shank3-deficient mice are still expressing shorter forms of Shank3 protein.
Gene_expression (expressing) of Shank3
12) Confidence 0.67 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0 Pain Relevance 0
We focused on synaptic biology and synaptic function as the most proximal target for altered Shank3 expression.
Gene_expression (expression) of Shank3 in proximal
13) Confidence 0.60 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.55 Pain Relevance 0.03
Moreover, there was no expression of full-length Shank3 protein in PSD fractions from Shank3-knockout mice and reduced expression in the heterozygotes, using antibodies which cross-react either with an epitope downstream of the PDZ domain (antibody N69/46; see Figure 1A) (Figure 1C) or with the COOH terminal (data not shown), consistent with haploinsufficiency.
Neg (no) Gene_expression (expression) of Shank3 associated with targeted disruption
14) Confidence 0.60 Published 2010 Journal Mol Autism Section Body Doc Link PMC3019144 Disease Relevance 0.31 Pain Relevance 0

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