INT272479

Context Info Confidence 0.50 First Reported 2008 Last Reported 2010 Negated 1 Speculated 1 Reported most in Body Documents 2 Total Number 3 Disease Relevance 0.45 Pain Relevance 0

cytosol (Dmpk) mitochondrion (Dmpk) endoplasmic reticulum (Dmpk) plasma membrane (Dmpk) nucleus (Dmpk) kinase activity (Dmpk)

Dmpk (Mus musculus)

Pain Link Frequency Relevance Heat abdominal pain 2 37.40 Kinase C 4 5.00 cytokine 2 5.00 Central nervous system 2 5.00 tolerance 2 5.00 spastic colon 1 5.00 depression 1 5.00 Inflammation 1 5.00

Disease Link Frequency Relevance Heat Disease 39 80.80 Toxicity 20 69.92 Myotonic Dystrophy 38 67.88 Myotonic Disorders 3 66.68 Frailty 13 44.88 Dysphagia 2 38.24 Abdominal Pain 2 37.40 Fatigue 3 36.76 Sleep Disorders 4 36.00 Hypopituitarism 22 34.80

Sentences Mentioned In

Key:

Protein

Mutation

Event

Anatomy

Negation

Speculation

Pain term

Disease term

Since the discovery of the genetic mutation responsible for DM1, much effort has been devoted to precisely define whether DMPK transcripts and/or protein levels change in the presence of CTG expansions.

Spec (whether) Regulation (change) of DMPK

1) Confidence 0.50 Published 2008 Journal Current Genomics Section Body Doc Link PMC2694559 Disease Relevance 0.06 Pain Relevance 0

No significant changes in the mutant DMPK mRNA stability and polyadenylation have been found [36].

Neg (No) Regulation (changes) of mutant DMPK mRNA

2) Confidence 0.21 Published 2010 Journal Current Genomics Section Body Doc Link PMC2874224 Disease Relevance 0.07 Pain Relevance 0

In this present review, we will specifically focus on the levels of gene expression regulation that mutant DMPK affects, namely gene transcription, alternative splicing, gene silencing and RNA translation, with particular emphasis on recent data.

Regulation (affects) of DMPK

3) Confidence 0.19 Published 2008 Journal Current Genomics Section Body Doc Link PMC2694559 Disease Relevance 0.32 Pain Relevance 0

General Comments

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