|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a multisystemic disorder caused by trinucleotide CTG expansion in DMPK gene, often affecting the neighboring genes.
|
31840338 |
2020 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by a CTG repeat expansion located in the 3' UTR of the DMPK gene.
|
31253581 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Allele length of the DMPK CTG repeat is a predictor of progressive myotonic dystrophy type 1 phenotypes.
|
31220271 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Analysis of mutational dynamics at the DMPK (CTG)n locus identifies saliva as a suitable DNA sample source for genetic analysis in myotonic dystrophy type 1.
|
31048891 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
AlteredExpression
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a severe neuromuscular disorder caused by the expression of trinucleotide repeat-containing DMPK transcripts.
|
31116797 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
In this study we evaluated the performance of the FastDM1<sup>TM</sup> DMPK sizing kit in myotonic dystrophy type 1 testing.
|
31164682 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM1), a neuromuscular disease related to DMPK gene mutations, is associated to endocrine disorders and cancer.
|
30760283 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a genetic disorder caused by CTG expansion in the DMPK gene.
|
31786795 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Carriage of interruptions in CTG repeats of the myotonic dystrophy protein kinase gene has been associated with a broad spectrum of myotonic dystrophy type 1 (DM1) phenotypes, mostly mild.
|
31608518 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
<b>Abbreviations</b>: DMPK: (dystrophia myotonica protein kinase); 3'-UTR: (3'-untranslated region); MBNL1: (muscleblind-like [Drosophila]); DM1: (myotonic dystrophy type 1); GFP: (green fluorescent protein); RT-PCR: (quantitative reverse transcriptase-polymerase chain reaction); shRNA: (short hairpin RNA).
|
30281408 |
2019 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
The pathophysiological mechanism linking the nucleotide expansion in the DMPK gene to the clinical manifestations of myotonic dystrophy type 1 (DM1) is still unclear.
|
29289451 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by a CTG nucleotide repeat expansion within the 3' UTR of the Dystrophia Myotonica protein kinase gene.
|
30274788 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM) is a dominantly inherited neuromuscular disorder caused by expression of mutant myotonin-protein kinase (<i>DMPK</i>) transcripts containing expanded CUG repeats.
|
29592894 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type I (DM1) is a multiorgan disease caused by CTG-repeat expansion in the DMPK gene.
|
29381654 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is caused by an expanded CTG repeat in the non-coding 3' UTR of the DMPK gene.
|
29803895 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a dominantly inherited neurodegenerative disease caused by a CTG repeat expansion close to the DMPK gene.
|
30216892 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Lymphoblastoids cell lines - Derived iPSC line from a 26-year-old myotonic dystrophy type 1 patient carrying (CTG)<sub>200</sub> expansion in the DMPK gene: CHUQi001-A.
|
29274549 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
RNA toxicity from CTG trinucleotide repeat (TNR) expansion within noncoding DNA of the transcription factor 4 (TCF4) and DM1 protein kinase (DMPK) genes has been described in Fuchs' endothelial corneal dystrophy (FECD) and myotonic dystrophy, type 1 (DM1), respectively.
|
30025114 |
2018 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
CTG repeat expansions in DMPK cause myotonic dystrophy (DM1) with a continuum of severity and ages of onset.
|
28257691 |
2017 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a neuromuscular disorder caused by a CTG repeat expansion in the 3'-untranslated region (UTR) of DMPK.
|
28886202 |
2017 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
We compared polyadenylation status between normal and expanded DMPK transcripts in muscle cells and tissues derived from unaffected individuals and patients with myotonic dystrophy type 1 (DM1).
|
28435090 |
2017 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice.
|
28624222 |
2017 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is an autosomal-dominant multi-system disease caused by expanded CTG repeats in dystrophia myotonica protein kinase (DMPK).
|
28211918 |
2017 |
|
Myotonic Dystrophy
|
0.600 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1) is a rare multisystemic neuromuscular disorder caused by expansion of CTG trinucleotide repeats in the noncoding region of the DMPK gene.
|
28780071 |
2017 |
|
Myotonic Dystrophy
|
0.600 |
Biomarker
|
disease |
BEFREE |
Myotonic Dystrophy type 1 (DM1) is caused by an expansion of CUG repeats in DMPK mRNAs.
|
28369518 |
2017 |