|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
|
MYOTONIC DYSTROPHY 1
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Hydrops fetalis associated with congenital myotonic dystrophy.
|
1550167 |
1992 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Mt-PK transcripts containing CTG repeat expansions were detected in the nucleus as bright foci in DM patient fibroblasts and muscle biopsies, but not from normal individuals.
|
7896884 |
1995 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Somatic heterogeneity of the CTG repeat in myotonic dystrophy is age and size dependent.
|
7825566 |
1995 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
An expansion of an unstable (CTG)n trinucleotide repeat in the 3' UTR of a gene encoding a putative serine/threonine protein kinase (DMPK) on human chromosome 19q13.3 has been shown to be specific for the myotonic dystrophy (DM) disease phenotype.
|
7726160 |
1995 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
To determine the founder of Indian myotonic dystrophy mutation, we have studied the expansion of CTG repeats in myotonin protein kinase gene and two intragenic linked loci Alu(ins) / Alu(del) and G/T intron 9 HinfI polymorphism in ten unrelated DM patients from eastern India.
|
10189221 |
1999 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
The genetic basis for DM is an expanded CTG repeat in the DMPK gene on chromosome 19.
|
10711986 |
1999 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
Length of (CTG)n triplet repeats in myotonic dystrophy protein kinase gene (DMPK) was estimated in tumors, normal tissues of the same organs, muscles, and leukocytes from three myotonic dystrophy (DM) patients and a non-DM patient.
|
10454725 |
1999 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
We have studied the CTG repeat sizes in the DMPK gene and six biallelic markers which are in complete linkage disequlibrium with Caucasian DM patients, to identify any common founder haplotype in 30 clinically diagnosed unrelated DM patients from eastern India.
|
11013451 |
2000 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We propose that DM1 disease is caused by aberrant recruitment of the EXP proteins to the DMPK transcript (CUG)(n) expansion.
|
10970838 |
2000 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Our study demonstrates that delay in DM1 myoblast maturation is associated with nuclear retention of mutant DMPK transcripts and decreased levels of DMPK protein.
|
11595515 |
2001 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
This change in chromatin structure has been proposed as a mechanism whereby the expression of DMPK and neighboring genes, sine oculis homeobox (Drosophila) homolog 5 (SIX5) and dystrophia myotonica-containing WD repeat motif (DMWD), might be affected.
|
11592825 |
2001 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
Decreased DMPK transcript levels in myotonic dystrophy 1 type IIA muscle fibers.
|
11527424 |
2001 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
AlteredExpression
|
disease |
BEFREE |
We demonstrated that transgenic mice carrying the CTG expansion in its human DM1 context (>45 kb) and producing abnormal DMPK mRNA with at least 300 CUG repeats, displayed clinical, histological, molecular and electrophysiological abnormalities in skeletal muscle consistent with those observed in DM1 patients.
|
11726559 |
2001 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM1) is an autosomal dominant disorder caused by an unstable (CTG)n repeat expansion in the DM1 protein kinase (DMPK) gene.
|
12630069 |
2002 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In a cell culture model, mutant transcripts containing a (CUG)200 DMPK 3'-UTR disrupt C2C12 myoblast differentiation; a phenotype similar to what is observed in myoblast cultures derived from DM1 patient muscle.
|
12427866 |
2002 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
This indicates that the specific targeting of the mutant DMPK transcripts is essential to raise the rationale basis for the development of a specific gene therapy for DM1.
|
12704419 |
2003 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
The reduced DMPK and the delayed slow fiber maturation in congenital DM1 may be two separate consequences of nuclear retention of DMPK RNA transcripts with expanded CUG repeats.
|
12598332 |
2003 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
As transcription of genes 3' of the DMPK gene on chromosome 19 is reduced in DM1 patients, a decreased expression of the alpha chain of the receptor involved in IgG catabolism, FcRn, may theoretically be responsible for the low serum IgG in DM1 patients.
|
14597103 |
2003 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM) is caused by either an untranslated CTG expansion in the 3' untranslated region of the DMPK gene on chromosome 19 (dystrophia myotonica type 1 [DM1]), or an untranslated CCTG tetranucleotide repeat expansion in intron 1 of the ZNF9 gene on chromosome 3 (dystrophia myotonica type 2 [DM2]).
|
15114529 |
2004 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
The CTG repeat at the 3' untranslated region of the dystrophia myotonica protein kinase (DMPK) gene shows marked intergenerational and somatic instability in patients with myotonic dystrophy (DM1), when the repeat is expanded to more than approximately 55 repeats.
|
15185171 |
2004 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
Myotonic dystrophy (DM1) is a multisystemic disorder caused by a CTG repeat expansion within the 3'-UTR of the DMPK gene.
|
14734627 |
2004 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
GeneticVariation
|
disease |
BEFREE |
In myotonic dystrophy 1 (DM1), aggregation of the mutant DMPK RNA into RNA-protein complexes containing MBNL1 and MBNL2 has been linked to aberrant splicing of the insulin receptor (IR) RNA.
|
15546872 |
2005 |
|
MYOTONIC DYSTROPHY 1
|
0.700 |
Biomarker
|
disease |
BEFREE |
We found that DMPK concentration was decreased to about 50% in DM patients' muscles; the protein decrease did not seem correlated with the CTG repeat length.
|
16193250 |
2005 |