Ontology highlight
ABSTRACT:
PROVIDER: PRJNA1230100 | ENA |
REPOSITORIES: ENA
Similar Datasets
Project description:Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder. Here we performed transcriptome analysis on 10 EDMD patients covering mutations in 7 EDMD-linked genes, compared to 2 healthy controls. Myoblasts were isolated from muscle biopsies and differentiated in-vitro for 6 days. Differentiated myotubes were isolated, total RNA extracted and the small <200 nt fraction sequenced. The genes and mutations included were: patient 1 (TMEM214, p.R179H), patient 2 (PLPP7/NET39, p.M92K), patient 3 (SUN1, p.G68D, p.G388S), patient 4 (SYNE1, p.6869*, p.6869*), patient 5 (EMD, p.S58Sfs*1), patient 6 (FHL1, c.688+1G>A), patient 7 (FHL1, p.C224W), patient 8 (FHL1, p.V280M), patient 9 (LMNA, p.T528K), patient 10 (LMNA, p.R571S).
2022-10-31 | GSE204826 | GEO
Project description:Emery-Dreifuss muscular dystrophy (EDMD) is a genetically and clinically variable disorder. Here we performed transcriptome analysis on 10 EDMD patients covering mutations in 7 EDMD-linked genes, compared to 2 healthy controls. Myoblasts were isolated from muscle biopsies and differentiated in-vitro for 6 days. Differentiated myotubes were isolated, total RNA extracted, and mRNA sequenced. The genes and mutations included were: patient 1 (TMEM214, p.R179H), patient 2 (PLPP7/NET39, p.M92K), patient 3 (SUN1, p.G68D, p.G388S), patient 4 (SYNE1, p.6869*, p.6869*), patient 5 (EMD, p.S58Sfs*1), patient 6 (FHL1, c.688+1G>A), patient 7 (FHL1, p.C224W), patient 8 (FHL1, p.V280M), patient 9 (LMNA, p.T528K), patient 10 (LMNA, p.R571S). The patients were found to segregate into 3 subgroups, defined as: gp1 = patients 1,2,5,7 and 10; gp2 = patients 3,6, and 8; gp3 = patients 4 and 9.
2022-10-31 | GSE204804 | GEO
Project description:Lamins and transmembrane proteins within the nuclear envelope are regulators of nuclear structure and chromatin organization. Nuclear Envelope Transmembrane Protein 39 (Net39) is a muscle-restricted nuclear envelope protein. We show that mice lacking Net39 succumb to severe myopathy and neonatal lethality, with concomitant disruption in nuclear integrity, chromatin accessibility, gene expression and metabolism. These abnormalities resemble those of Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in A-type Lamins (LMNA) and other genes, like Emerin (EMD). We observe that Net39 is downregulated in EDMD patients, implicating Net39 in the pathogenesis of this disorder. Our findings reveal an intimate role for the nuclear envelope in maintaining muscle chromatin organization, gene expression and function, and highlight the importance of Net39 in these processes and in the molecular etiology of EDMD.
2020-11-24 | GSE154848 | GEO
Project description:Lamins and transmembrane proteins within the nuclear envelope are regulators of nuclear structure and chromatin organization. Nuclear Envelope Transmembrane Protein 39 (Net39) is a muscle-restricted nuclear envelope protein. We show that mice lacking Net39 succumb to severe myopathy and neonatal lethality, with concomitant disruption in nuclear integrity, chromatin accessibility, gene expression and metabolism. These abnormalities resemble those of Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in A-type Lamins (LMNA) and other genes, like Emerin (EMD). We observe that Net39 is downregulated in EDMD patients, implicating Net39 in the pathogenesis of this disorder. Our findings reveal an intimate role for the nuclear envelope in maintaining muscle chromatin organization, gene expression and function, and highlight the importance of Net39 in these processes and in the molecular etiology of EDMD.
2020-11-24 | GSE154847 | GEO
Project description:Lamins and transmembrane proteins within the nuclear envelope are regulators of nuclear structure and chromatin organization. Nuclear Envelope Transmembrane Protein 39 (Net39) is a muscle-restricted nuclear envelope protein. We show that mice lacking Net39 succumb to severe myopathy and neonatal lethality, with concomitant disruption in nuclear integrity, chromatin accessibility, gene expression and metabolism. These abnormalities resemble those of Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in A-type Lamins (LMNA) and other genes, like Emerin (EMD). We observe that Net39 is downregulated in EDMD patients, implicating Net39 in the pathogenesis of this disorder. Our findings reveal an intimate role for the nuclear envelope in maintaining muscle chromatin organization, gene expression and function, and highlight the importance of Net39 in these processes and in the molecular etiology of EDMD.
2020-11-24 | GSE154849 | GEO
Project description:Lamins and transmembrane proteins within the nuclear envelope regulate nuclear structure and chromatin organization. Nuclear Envelope Transmembrane Protein 39 (Net39) is muscle nuclear envelope protein whose functions in vivo have not been explored. We show that mice lacking Net39 succumb to severe myopathy and juvenile lethality, with concomitant disruption in nuclear integrity, chromatin accessibility, gene expression and metabolism. These abnormalities resemble those of Emery-Dreifuss muscular dystrophy (EDMD), caused by mutations in A-type Lamins (LMNA) and other genes, like Emerin (EMD). We observe that Net39 is downregulated in EDMD patients, implicating Net39 in the pathogenesis of this disorder. Our findings highlight the role of Net39 at the nuclear envelope in maintaining muscle chromatin organization, gene expression and function, and its potential contribution to the molecular etiology of EDMD.
2020-11-23 | GSE154850 | GEO
Project description:ATAC-seq was performed to identify the effects in the knockout of the Lmna gene in renin lineage cells.
2021-05-26 | GSE167522 | GEO
Project description:Using ATAC seq analysis, we showed that the MEFs with a knockout of Lmna gene (i.e., missing the lamin A/C nuclear scaffolding protein) (Lmna-/- MEFs) display a striking change in chromatin accessibility landscape (peak signals that are both up and down), both within and outside lamina-associated domains (LADs); moreover, there was a clear overrepresentation of peaks with a gain in chromatin accessibility (within and outside LADs) in the Lmna-/- MEFs, and within LADs compared to outside LADs.
2022-08-31 | GSE186677 | GEO