MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This finding suggest that one of the molecular mechanisms of sudden cardiac death in this asymptomatic subclinical DM1 patient might be LDB3 abnormal splicing due to the CTG repeat in DMPK, rather than RBM20 variant.
|
31419596 |
2019 |
MYOTONIC DYSTROPHY 1
|
0.700 |
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 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Moreover, treated DM1 patient-derived muscle cells showed that Pip6a-PMO-CAG specifically targets mutant CUGexp-DMPK transcripts to abrogate the detrimental sequestration of MBNL1 splicing factor by nuclear RNA foci and consequently MBNL1 functional loss, responsible for splicing defects and muscle dysfunction.
|
31479430 |
2019 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We have developed an inducible, skeletal muscle-specific mouse model of DM1 (CUG960) that expresses 960 CUG repeat-expressing animals (CUG960) in the context of human DMPK exons 11-15.
|
29771332 |
2018 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy 1 (DM1) is a multisystemic neuromuscular disease caused by a dominantly inherited 'CTG' repeat expansion in the gene encoding DM Protein Kinase (DMPK).
|
30086404 |
2018 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
In the current proof-of-principle study, we explored the use of CRISPR/Cas9 for gene-editing in myotonic dystrophy type-1 (DM1), an autosomal-dominant muscle disorder, by excising the CTG-repeat expansion in the 3'-untranslated-region (UTR) of the human myotonic dystrophy protein kinase (DMPK) gene in DM1 patient-specific induced pluripotent stem cells (DM1-iPSC), DM1-iPSC-derived myogenic cells and DM1 patient-specific myoblasts.
|
29947794 |
2018 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dystrophia myotonica (DM) type 1 is an autosomal dominant disorder, caused by a trinucleotide CTG repeat expansion in the 3' untranslated region of the dystrophia myotonica protein kinase (<i>DMPK</i>) gene (chromosome 19q13.3).
|
28810563 |
2017 |
MYOTONIC DYSTROPHY 1
|
0.700 |
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 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Our results support the hypothesis that CCG/CTC interruptions within the DMPK expanded alleles have a stabilizing effect on the mutational dynamics and can modulate the severity of symptoms in DM1 patients.
|
27876818 |
2017 |
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
However, basal levels of DMPK protein are reduced by half in DM1 patients.
|
27522499 |
2016 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
G4 motifs in DMPK DNA and RNA might contribute to DM1 pathology.
|
26756355 |
2016 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM1) is caused by an expansion of CUG repeats (CUG(exp)) in the DMPK mRNA 3'UTR.
|
27030674 |
2016 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy type 1 (DM1, Steinert's disease) is caused by a (CTG)n expansion in DMPK, while myotonic dystrophy type 2 (DM2) is caused by a (CCTG)n expansion in ZNF9/CNBP.
|
24882752 |
2015 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Optimization PCR for Detection CTG/CCTG-Repeat Expansions in the Diagnosis of Myotonic Dystrophies.
|
26586700 |
2015 |
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We chose to focus on the interaction between MBNL1 and mutant DMPK mRNA in cells from DM1 patients due to the strong microscopic evidence of their co-localization.
|
24781112 |
2014 |
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
DDX6 regulates sequestered nuclear CUG-expanded DMPK-mRNA in dystrophia myotonica type 1.
|
24792155 |
2014 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We have generated one ASRE that can target the expanded RNA repeats in DM1 patient cells and specifically degrade the pathogenic DMPK messenger RNAs with minimal effect on wild-type alleles.
|
24196578 |
2014 |
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Myotonic dystrophy (DM1) is a multisystemic disease caused by an expansion of CTG repeats in the region of DMPK, the gene encoding DM protein kinase.
|
23811192 |
2013 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type 1 myotonic dystrophy (DM1) is an autosomal-dominant inherited disorder with a multisystem involvement, caused by an abnormal expansion of the CTG sequence of the dystrophic myotonia protein kinase (DMPK) gene.
|
23853500 |
2013 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
Utilizing the GAAA tetraloop/receptor to facilitate crystal packing and determination of the structure of a CUG RNA helix.
|
23025897 |
2012 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy 1 (DM1) is a multisystemic disease caused by a triplet nucleotide repeat expansion in the 3' untranslated region of the gene coding for myotonic dystrophy protein kinase (DMPK).
|
21949239 |
2011 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Dystrophia myotonia type 1 (DM1; Steinert's disease; myotonic dystrophy) is an autosomal dominant disorder due to a large CTG expansion in the 3'-untranslated region (UTR) of the DM protein kinase (DMPK) gene.
|
19172994 |
2009 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy 1 (MD1) is caused by a CTG expansion in the 3'-unstranslated region of the myotonic dystrophy protein kinase (DMPK) gene.
|
19482024 |
2009 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Most frequently, LVHT is associated with mitochondrial disorders (mtDNA, nDNA mutations), Barth syndrome (G4.5, TAZ mutations), hypertrophic cardiomyopathy (MYH7, ACTC mutations), zaspopathy (ZASP/LDB3 mutations), myotonic dystrophy 1 (DMPK mutations), and dystrobrevinopathy (DTNA mutations).
|
19184181 |
2009 |
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Type I myotonic dystrophy (DM1) is caused by a triplet repeat expansion in the 3'-untranslated region (UTR) of the dystrophia myotonia protein kinase (DMPK) gene.
|
18559347 |
2008 |