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TranscriptomicsDeletion of DMD exon 52 in the pig results in fulminant muscular dystrophy
Duchenne muscular dystrophy (DMD) is caused by mutations in the X-linked dystrophin (DMD) gene. The absence of dystrophin protein leads to progressive muscle weakness and wasting, disability and death. To establish a tailored large animal model of DMD, we deleted DMD exon 52 in male pig cells by gen...
ORGANISM(S): Sus scrofa 
2013-08-06 | E-GEOD-44096 | biostudies-arrayexpress
TranscriptomicsDystrophia Myotonica Biomarker Discovery Initiative
As part of the Dystrophia Myotonica Biomarker Discovery Initiative (DMBDI) a dataset was obtained from 35 participants, including 31 Myotonic Dystrophy type 1 (DM1) cases and four unaffected controls. All DM1 cases in this research were heterozygous for the abnormally expanded CTG repeat. The mode o...
ORGANISM(S): Homo sapiens 
2019-05-31 | E-MTAB-7983 | 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
Genomicsbd22328b-e147-4bec-8210-2824a108a846 - samples
This dataset consists of 60 mRNA sequencing runs from full blood of 31 myotonic dystrophy type 1 patients, of which for 27 patients reliable data is available before and after 10 months of cognitive behavioural therapy. >30 million 150 bp paired end reads were obtained with UMI-labeled adapters to...
EGAD00001008383 | EGA
GenomicsOPTIMISTIC DAC for ReCognitION
Data Access Committee EGAC00001002434
EGAC00001002434 | EGA
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