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ProteomicsRecovery in the intrinsic myogenic program of congenital myotonic dystrophy myoblasts after excision of the expanded (CTG)n repeat
The congenital form of myotonic dystrophy type 1 (cDM) is caused by large-scale expansion of a (CTG•CAG)n repeat in DMPK and DM1-AS. Production of toxic transcripts with long trinucleotide tracts from these genes results in impediment of myogenic differentiation capacity as cDM’s most prominent morp...
ORGANISM(S): Homo sapiens (Human) 
2019-11-20 | PXD016056 | Pride
Genome editing Proteomics Myoblasts Myogenesis Transcriptomics Myotonic dystrophy Triplet repeat 
GenomicsThree-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion
Three-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion
PRJNA623390 | ENA
ProteomicsTCF4 trinucleotide repeat expansion drives distinct proteomic signatures in Fuchs endothelial corneal dystrophy
The aims of this study were to use an isogenic cell model system to investigate the proteomic consequences of TCF4 trinucleotide repeat expansion in Fuchs endothelial corneal dystrophy (FECD) and to identify potential molecular pathways contributing to disease pathogenesis. We used our previously es...
ORGANISM(S): Homo sapiens (Human) 
2026-06-08 | PXD075094 | Pride
Retina Fuchs endothelial corneal dystrophy (fecd) Ctg repeat 
GenomicsTranscriptomic analysis of cultured isogenic myotonic dystrophy type 1 myoblasts with and without the DMPK CTG repeat
Transcriptomic analysis of cultured isogenic myotonic dystrophy type 1 myoblasts with and without the DMPK CTG repeat
PRJNA524687 | ENA
OtherThree-dimensional chromatin interactions remain stable upon CAG/CTG repeat expansion
Expanded CAG/CTG repeats underlie thirteen neurological disorders, including myotonic dystrophy type 1 (DM1) and Huntington’s disease (HD). Upon expansion, CAG/CTG repeat loci acquire heterochromatic characteristics. This observation raises the hypothesis that repeat expansion provokes changes to hi...
ORGANISM(S): Homo sapiens 
2020-04-07 | GSE148185 | GEO
TranscriptomicsTranscriptomic analysis of cultured isogenic myotonic dystrophy type 1 myoblasts with and without the DMPK CTG repeat
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(S): Homo sapiens 
2019-04-11 | GSE127296 | GEO
UnknownModifiers of CAG/CTG Repeat Instability: Insights from Mammalian Models.
Not available
S-EPMC7990408 | biostudies-literature
UnknownSCA8 repeat expansion: large CTA/CTG repeat alleles are more common in ataxic patients, including those with SCA6.
Not available
S-EPMC1180244 | biostudies-literature
UnknownMyotonic dystrophy type 1 patient-derived iPSCs for the investigation of CTG repeat instability.
Not available
S-EPMC5304155 | biostudies-literature
UnknownImpact of prematurity and the CTG repeat length on outcomes in congenital myotonic dystrophy.
Not available
S-EPMC7379817 | biostudies-literature
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