Disease |
Disease |
Method |
Sample |
Expression pattern |
Dysfunction type |
Description |
PMID |
Source |
Facioscapulohumeral muscular dystrophy |
Gene expression study in human cells to build pathways involved by DBE-T in FSHD patients |
N/A |
N/A |
N/A |
DBE-T, a chromatin-associated noncoding RNA produced selectively in FSHD patients that coordinates de-repression of 4q35 genes. DBE-T recruits the Trithorax group protein Ash1L to the FSHD locus, driving histone H3 lysine 36 dimethylation, chromatin remodeling, and 4q35 gene transcription. |
22541069 |
|
Facioscapulohumeral muscular dystrophy |
N/A |
N/A |
N/A |
mutation |
The activatory long non-coding RNA DBE-T reveals the epigenetic etiology of facioscapulohumeral muscular dystrophy. |
22710800 |
LncRNADisease
|
Facioscapulohumeral muscular dystrophy |
N/A |
N/A |
N/A |
regulation |
Epigenetic deregulation of lncRNAs genes is associated with disease |
23791884 |
LncRNADisease
|
Facioscapulohumeral muscular dystrophy |
N/A |
N/A |
N/A |
regulation |
In contrast, in FSHD patients, a deletion of D4Z4 repeats results in cis production of the DBE-T lncRNA that binds to protein complexes, reorganizes the chromatin state of the FSHD locus, and reactivates the repressed 4q35 genes. |
24667321 |
LncRNADisease
|
Facioscapulohumeral muscular dystrophy |
N/A |
N/A |
N/A |
expression |
As a result, this region becomes more prone to transcription and gives rise to the activatory lncRNA DBE-T. DBE-T is mainly produced in FSHD patients and mediates the aberrant activation of the FSHD locus. |
24685002 |
LncRNADisease
|
|