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TranscriptomicsmicroRNAs expression profile in Myotonic Dystrophy type-2 (DM2) patients
Myotonic Dystrophy Type-2 (DM2) is an autosomal dominant disease caused by the expansion of a CCTG tetraplet repeat. It is a multisystemic disorder, affecting skeletal muscles, the heart, the eye, the central nervous system and the endocrine system The expression of 365 miRNAs was measured in the mu...
ORGANISM(S): Homo sapiens 
2012-08-27 | E-GEOD-37794 | biostudies-arrayexpress
TranscriptomicsTranscriptional profiling by array of human cataract samples to study the involvement of Type 1 interferon signalling in myotonic dystrophy types I and II
Comparison of myotonic dystrophy cataract samples with control non-myotonic dystrophy cataract samples
ORGANISM(S): Homo sapiens 
2011-10-31 | E-MEXP-3365 | biostudies-arrayexpress
TranscriptomicsMyotonic dystrophy type 1 (DM1) leads to altered mRNA expression in heart tissue
Myotonic dystrophy type 1 (DM1) is a dominantly inherited disease that affects multiple organ systems. Cardiac dysfunction is the second leading cause of death in DM1. We quantified gene expression in heart tissue from a heart-specific DM1 mouse model (EpA960/MCM) which inducibly expresses human DMP...
ORGANISM(S): Mus musculus 
2014-01-24 | E-GEOD-48991 | biostudies-arrayexpress
TranscriptomicsMisregulation of alternative splicing of BIN1 leads to T-tubule alterations and muscle weakness in myotonic dystrophy
Myotonic dystrophes (DM), the most common adult muscular dystrophy, are the first recognized examples of RNA-mediated diseases in which expression of mutant RNAs containing expanded CUG or CCUG repeats interfere with the splicing of other mRNAs. Using whole-genome microarrays, we found that alternat...
ORGANISM(S): Homo sapiens 
2011-05-26 | E-GEOD-21795 | biostudies-arrayexpress
GenomicsFull blood mRNA sequencing of myotonic dystrophy type 1 patients after cognitive behavioural therapy
Myotonic dystrophy type 1 (DM1) is an incurable multisystem disease caused by a CTG-repeat expansion in the DM1 protein kinase (DMPK) gene. The OPTIMISTIC clinical trial demonstrated positive and heterogenous effects of cognitive behavioral therapy (CBT) on the capacity for activity and social parti...
EGAS00001005830 | EGA
ProteomicsMulti-level profiling unravels mitochondrial dysfunction in Myotonic Dystrophy type 2
Myotonic Dystrophy type 2 (DM2) is an autosomal-dominant, multisystemic disease with a core manifestation of proximal muscle weakness, muscle atrophy, myotonia, and myalgia. The disease-causing CCTG tetranucleotide expansion within the CNBP gene on chromosome 3 leads to an RNA-dominated spliceopathy...
ORGANISM(S): Homo sapiens (Human) 
2024-01-26 | PXD044286 | Pride
Myotonic dystrophy type 2 Repeat expansion disease Proximal myotonic myopathy Mitochondrial dysfunction 
TranscriptomicsComparative analysis of Mbl attenuation and CUG non-coding repeats expression in Drosophila larval muscles
Myotonic dystrophy type 1 (DM1) is a neuro-muscular disorder caused by CTG triplet expansion in the 3-UTR of the DMPK gene. Mutated transcripts aggregate in muscle nuclei and sequester the MBNL1 splicing factor. To assess the involvement of Mbl sequestration on transcriptpion deregulation in DM1, we...
ORGANISM(S): Drosophila melanogaster 
2013-04-01 | E-MTAB-1469 | biostudies-arrayexpress
TranscriptomicsComparison of gene expression data between wild-type and DM1-affected undifferentiated hES cells.
Analysis of genes that were differentially expressed in mutant VUB03_DM1 as compared to controls VUB01 and SA01 undifferentiated hES cells Embryonic stem (ES) cell lines provide, theoretically, unlimited access to any needed amount of any specific cell phenotype of an organism, due to their unique ...
ORGANISM(S): Homo sapiens 
2010-03-09 | E-GEOD-7179 | biostudies-arrayexpress
TranscriptomicsRNA sequencing of heart samples of myotonic dystrophic (DM1) patients
Analysis of alternative splicing in heart (left ventricles) samples of 3 adult DM1 patients versus 3 adult controls PolyA RNA from left ventricles (heart) of 3 controls and 3 DM1 patients were analysed by massive parrallel sequencing
ORGANISM(S): Homo sapiens 
2015-04-14 | E-GEOD-67812 | biostudies-arrayexpress
TranscriptomicsAntagonistic role of MBNL1 and LIN28 promotes specific alteration of pre-miR-1 processing and is associated with heart defects in DM
Myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults, is caused by the expression of expanded CUG repeats, which sequester the MBNL1 RNA binding protein. Cardiac involvement, which is characterized by conduction defects and arrhythmias, is the second cause of death of DM1 pa...
ORGANISM(S): Homo sapiens 
2011-05-26 | E-GEOD-24109 | biostudies-arrayexpress
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