GEO DataSets

(Submitter supplied) Myotonic dystrophy (dystrophia myotonica, DM) is caused by expansions of CTG (type 1; DM1) or CCTG (type 2; DM2) repeats in the non-coding regions of the DMPK and CNBP genes, and patients with DM1 or DM2 often suffer from sudden cardiac death due to lethal arrhythmia. Specific molecular changes that underlie DM cardiac pathology have been linked to repeat-associated depletion of Muscleblind-like (MBNL) 1 and 2 proteins and upregulation of CUGBP Elav-like family member 1. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL21626

6 Samples

Download data: TXT

(Submitter supplied) Myotonic dystrophy (DM) is a multi-systemic disease that severely impacts cardiac and skeletal muscle functions as well as the central nervous system. DM is unusual because it is RNA-mediated disease due to the expression of C(C)UG expansion RNAs that inhibit the activities of the muscleblind-like (MBNL) proteins. In mice, studies using Mbnl1 and Mbnl2 single knockouts have revealed that Mbnl1 plays a predominant role in skeletal and heart muscle alternative splicing regulation while Mbnl2 performs an analogous splicing function in the brain. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11002

2 Samples

Download data: BED

(Submitter supplied) MBNL1 is a known splicing factor and is related to Myotonic Dystrophy (DM). This study examines the tissue specific splicing patterns of MBNL1 using a mutant and wild type mouse across three tissues (heart,brain,quadricep) related publications: Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy. Du H, etal Nat Struct Mol Biol. 2010 Feb;17(2):187-93. more...

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL2720

18 Samples

Download data: CEL

(Submitter supplied) Mapping MBNL-regulated genome-wide alternative polyadenylation: We report that depletion of Mbnl proteins in mouse embryo fibroblasts (MEFs), DM mouse model quadriceps muscle, and DM-autopsy muscle tissue leads to mis-regulation of alternative polyadenylation

Organism:

Homo sapiens; Mus musculus

Type:

Expression profiling by high throughput sequencing

Platforms:

GPL11002 GPL10999

36 Samples

Download data: TXT, WIG, XLSX

(Submitter supplied) RNA-seq on proliferating myoblasts of the DM11 line carrying 13 and 2600 CTG repeats in the DMPK gene, compared to their genome-edited counterparts without both the 13 and 2600 CTG repeat or just lacking the 2600 CTG repeat.

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20301

8 Samples

Download data: XLS

(Submitter supplied) Myotonic dystrophy (DM) is the most common autosomal dominant muscular dystrophy and encompasses both skeletal muscle and cardiac complications. Myotonic dystrophy is nucleotide repeat expansion disorder in which type 1 (DM1) is due to a trinucleotide repeat expansion on chromosome 19 and type 2 (DM2) arises from a tetranucleotide repeat expansion on chromosome 3. Developing representative models of myotonic dystrophy in animals has been challenging due to instability of nucleotide repeat expansions, especially for DM2 which is characterized by nucleotide repeat expansions often greater than 5000 copies. more...

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20301

6 Samples

Download data: TXT, XLSX

(Submitter supplied) The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein, we performed CLIP-seq against Celf1 using the 3B1 antibody, in myoblasts, heart tissue, and muscle tissue.

Organism:

synthetic construct

Type:

Other

Platform:

GPL15228

7 Samples

Download data: XLSX

(Submitter supplied) This SuperSeries is composed of the SubSeries listed below.

Organism:

Mus musculus; synthetic construct

Type:

Expression profiling by high throughput sequencing; Other

Platforms:

GPL13112 GPL9250 GPL15228

40 Samples

Download data: BED

(Submitter supplied) The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein, we performed CLIP-seq against Celf1 using the 3B1 antibody, in myoblasts, heart tissue, and muscle tissue.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL13112

3 Samples

Download data: BED, TXT

(Submitter supplied) The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein in heart, we performed RNA-Seq of polyA+ RNA from mice inducibly expressing Celf1 in the muscle.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL9250

15 Samples

Download data: TXT

(Submitter supplied) The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein in heart, we performed RNA-Seq of polyA+ RNA from mice inducibly expressing Celf1 in the muscle.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL9250

15 Samples

Download data: TXT

(Submitter supplied) The CUG-BP and ETR-3-like factor 1 (Celf1) RNA binding protein plays an important role in heart and muscle development, and is over-expressed in the disease myotonic dystrophy. Celf1 has known roles in regulation of RNA splicing, RNA stability, and protein translation. To identify transcriptome-wide targets of the Celf1 protein in heart, we performed RNA-Seq of polyA+ RNA from mice inducibly expressing Celf1 in the heart.

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing

Platform:

GPL9250

15 Samples

Download data: TXT

(Submitter supplied) Analysis of alternative splicing in heart (left ventricles) samples of 3 adult DM1 patients versus 3 adult controls

Organism:

Homo sapiens

Type:

Expression profiling by high throughput sequencing

Platform:

GPL11154

6 Samples

Download data: CSV, FA, TXT

(Submitter supplied) Analysis of alternative splicing of left ventricles heart samples of 3 DM1 adult versus 3 adult controls

Organism:

Homo sapiens

Type:

Expression profiling by array

Platform:

GPL5175

6 Samples

Download data: CEL, CHP

(Submitter supplied) We have identified Mbnl2 mediated splicing events and mRNA expression regulation by comparing WT and Mbnl2 ΔE2/ΔE2 mouse hippocampii using Affymetrix Mouse Exon Junction Array and mRNA sequencing. The splicing microarray data has already been submitted under GSE37908 which also includes a re-analysis of RNA-seq data. The TableS1.xls contains Splicing microarray analysis data of Mbnl2+/+ vs. MBNL2 ΔE2/ΔE2 knockout hippocampus. more...

Organism:

Mus musculus

Type:

Expression profiling by high throughput sequencing; Other

Platform:

GPL11002

9 Samples

Download data: BED, BEDGRAPH, PDF, XLS

(Submitter supplied) We have characterized the MBNL2-dependent changes in expression and alternative splicing by comparing hippocampi from MBNL2 deltaE2/deltaE2 and WT mouse brains.

Organism:

Mus musculus

Type:

Expression profiling by array

Platform:

GPL13185

6 Samples

Download data: CEL

(Submitter supplied) Myotonic dystrophy type 1 (DM1) is a CTG microsatellite expansion (CTGexp) disorder caused by expression of CUGexp RNAs. These mutant RNAs alter the activities of RNA processing factors, including MBNL proteins, leading to reversion to specific fetal isoforms in adult tissues and DM1 pathology. While this pathogenesis model accounts for adult-onset disease, the molecular basis of congenital DM (CDM) is unknown. more...

Organism:

Homo sapiens; Mus musculus

Type:

Expression profiling by high throughput sequencing

Platforms:

GPL19057 GPL18573 GPL11154

25 Samples

Download data: TXT

(Submitter supplied) mbnl knockout Danio rerio were created using CRISPR-Cas9, including single mbnl paralog knockouts, double mbnl paralog knockouts, and a triple mbnl paralog knockout. RNA-Seq was performed using skeletal muscle of three biological replicates of four month old fish.

Organism:

Danio rerio

Type:

Expression profiling by high throughput sequencing

Platform:

GPL20828

24 Samples

Download data

(Submitter supplied) The Muscleblind-like (Mbnl) family of RNA-binding proteins plays important roles in muscle and eye development and in Myotonic Dystrophy (DM), where expanded CUG or CCUG repeats functionally deplete Mbnl proteins. We identified transcriptome-wide functional and biophysical targets of Mbnl proteins in brain, heart, muscle, and myoblasts using RNA sequencing and crosslinking/immunoprecipitation-sequencing approaches. more...

Organism:

Mus musculus; Drosophila melanogaster

Type:

Expression profiling by high throughput sequencing

4 related Platforms

55 Samples

Download data: BED, TXT

(Submitter supplied) The thymus is a primary lymphoid organ that plays an essential role in T lymphocyte maturation and selection during development of one arm of the mammalian adaptive immune response. Although transcriptional mechanisms have been well documented in thymocyte development, co-/post-transcriptional modifications are also important but have received less attention. Here, we demonstrate that the RNA alternative splicing factor MBNL1, which is sequestered in nuclear RNA foci by C(C)UG short tandem repeat expansions in myotonic dystrophy (DM), is essential for normal thymus development and function. more...

Organism:

Homo sapiens; Mus musculus

Type:

Expression profiling by high throughput sequencing; Third-party reanalysis

Platforms:

GPL17021 GPL18573

33 Samples

Download data: TXT, XLS, XLSX