INT232584

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Context Info
Confidence 0.47
First Reported 2008
Last Reported 2010
Negated 1
Speculated 0
Reported most in Body
Documents 5
Total Number 8
Disease Relevance 3.41
Pain Relevance 0.13

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

cytosol (DMPK) mitochondrion (DMPK) plasma membrane (DMPK)
nucleus (DMPK) cytoplasm (DMPK)
Anatomy Link Frequency
myotubes 2
myoblasts 1
neurons 1
fibroblasts 1
DMPK (Homo sapiens)
Pain Link Frequency Relevance Heat
medulla 2 58.24 Quite High
GABAergic 20 52.28 Quite High
Kinase C 6 52.00 Quite High
abdominal pain 1 8.68 Low Low
imagery 36 5.00 Very Low Very Low Very Low
gABA 18 5.00 Very Low Very Low Very Low
Pain 4 5.00 Very Low Very Low Very Low
anticonvulsant 4 5.00 Very Low Very Low Very Low
addiction 4 5.00 Very Low Very Low Very Low
anesthesia 2 5.00 Very Low Very Low Very Low
Disease Link Frequency Relevance Heat
Targeted Disruption 72 99.98 Very High Very High Very High
Disease 59 97.88 Very High Very High Very High
Frailty 85 97.24 Very High Very High Very High
Diabetes Mellitus 60 96.92 Very High Very High Very High
Cognitive Disorder 6 96.68 Very High Very High Very High
Muscle Disease 9 95.64 Very High Very High Very High
Stress 4 90.92 High High
Hypopituitarism 55 87.60 High High
Neuromuscular Disease 2 87.32 High High
Cytomegalovirus Infection 6 66.40 Quite High

Sentences Mentioned In

Key: Protein Mutation Event Anatomy Negation Speculation Pain term Disease term
Initial reports using antisera and semiquantitative reverse transcriptase-polymerase chain reaction reported decreased levels of both DMPK mRNA and protein in adult forms of DM1, suggesting that large CTG repeat expansions altered DMPK mRNA synthesis and processing [15-18].
Transcription (levels) of DM1
1) Confidence 0.47 Published 2008 Journal Current Genomics Section Body Doc Link PMC2694559 Disease Relevance 0.05 Pain Relevance 0
CLCN1 protein expression could only be detected in differentiated myotubes, and the expression level in DM1 myotubes was 43±1% of WT levels (determined across multiple experiments, relative to ?
Transcription (expression) of DM1 in myotubes
2) Confidence 0.41 Published 2010 Journal Current Chemical Genomics Section Body Doc Link PMC2874217 Disease Relevance 0.33 Pain Relevance 0
Complete intron 2 retention was found in 43±1%, 63±1% and 72±2% of CLCN1-luc transcripts in DM1 fibroblasts, myoblasts and myotubes, respectively (versus 2.4±1%, 3.5±1% and 5±1% in WT counterparts), and partial intron 2 retention was seen at similar levels (14±2%) in CLCN1-luc transcripts of both WT and DM1 cells, in agreement with a previously identified cryptic splice site in CLCN1 intron 2 [29].
Transcription (transcripts) of DM1 in myotubes
3) Confidence 0.41 Published 2010 Journal Current Chemical Genomics Section Body Doc Link PMC2874217 Disease Relevance 0.17 Pain Relevance 0.03
DM1 CUGexp transcripts form ribonuclear inclusions that co-localize with MBNL1 in temporal lobe neurons of DM1 patients [22].
Transcription (transcripts) of DM1 in neurons
4) Confidence 0.21 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.92 Pain Relevance 0
First, transgenic mouse models of DM1 in which CUGexp transcripts are expressed in the 3?
Transcription (models) of DM1 associated with targeted disruption
5) Confidence 0.18 Published 2009 Journal PLoS Genetics Section Body Doc Link PMC2719092 Disease Relevance 0.93 Pain Relevance 0.06
Complete intron 2 retention was found in 43±1%, 63±1% and 72±2% of CLCN1-luc transcripts in DM1 fibroblasts, myoblasts and myotubes, respectively (versus 2.4±1%, 3.5±1% and 5±1% in WT counterparts), and partial intron 2 retention was seen at similar levels (14±2%) in CLCN1-luc transcripts of both WT and DM1 cells, in agreement with a previously identified cryptic splice site in CLCN1 intron 2 [29].
Transcription (transcripts) of DM1 in myoblasts
6) Confidence 0.14 Published 2010 Journal Current Chemical Genomics Section Body Doc Link PMC2874217 Disease Relevance 0.17 Pain Relevance 0.03
Complete intron 2 retention was found in 43±1%, 63±1% and 72±2% of CLCN1-luc transcripts in DM1 fibroblasts, myoblasts and myotubes, respectively (versus 2.4±1%, 3.5±1% and 5±1% in WT counterparts), and partial intron 2 retention was seen at similar levels (14±2%) in CLCN1-luc transcripts of both WT and DM1 cells, in agreement with a previously identified cryptic splice site in CLCN1 intron 2 [29].
Transcription (transcripts) of DM1 in fibroblasts
7) Confidence 0.14 Published 2010 Journal Current Chemical Genomics Section Body Doc Link PMC2874217 Disease Relevance 0.17 Pain Relevance 0.03
Significant differences in allele and genotype distribution among T1DM, T2DM and control persons were found in SOD1 and SOD2 genes but not in CAT gene (p < 0,01).
Neg (not) Transcription (found) of T1DM
8) Confidence 0.00 Published 2008 Journal BMC Med Genet Section Abstract Doc Link PMC2386118 Disease Relevance 0.65 Pain Relevance 0

General Comments

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