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Weakened sarcomeric contractility distinguishes Facio Scapulo Humeral Dystrophy muscle fibers

ABSTRACT: Weakened sarcomeric contractility distinguishes Facio Scapulo Humeral Dystrophy muscle fibers

PROVIDER: PRJNA717762 | ENA |

REPOSITORIES: ENA

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Weakened sarcomeric contractility distinguishes Facio Scapulo Humeral Dystrophy muscle fibers

Project description:To gain further insights into the specificity of the muscle alteration in this disease, we derived induced pluripotent stem cells from patients affected with type 1 and 2 FSHD, differentiated these cells into contractile innervated muscle fibers and analyzed their transcriptome by RNA Seq.

2022-02-18 | GSE169724 | GEO

SMCHD1 variants induce variegated expression in Facio Scapulo Humeral Dystrophy and Bosma Arhinia and microphtalmia syndrome (Methylation).

Project description:Determination of SMCHD1 epi-signature in type 2 Facio Scapulo Humeral Dystrophy (FSHD2) and Bosma Arhinia and Microphtalmia Syndrome (BAMS).

2023-12-31 | GSE175527 | GEO

In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

Project description:In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

| PRJNA552212 | ENA

In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

Project description:In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers

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SMCHD1 variants induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome. [ChIP-Seq]

Project description:Determination of SMCHD1 epi-signature in type 2 Facio Scapulo Humeral Dystrophy (FSHD2) and Bosma Arhinia and Microphtalmia Syndrome (BAMS).

2022-05-27 | GSE179984 | GEO

SMCHD1 variants induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome. [RNA-Seq]

Project description:Determination of SMCHD1 epi-signature in type 2 Facio Scapulo Humeral Dystrophy (FSHD2) and Bosma Arhinia and Microphtalmia Syndrome (BAMS).

2022-05-27 | GSE174604 | GEO

SMCHD1 variants induce variegated expression in Facio Scapulo Humeral Dystophy and Bosma Arhinia and microphtalmia syndrome (ChIP-Seq).

Project description:Determination of SMCHD1 epi-signature in type 2 Facio Scapulo Humeral Dystrophy (FSHD2) and Bosma Arhinia and Microphtalmia Syndrome (BAMS).

2023-12-31 | GSE174769 | GEO

In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers [WES]

Project description:In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers [WES]

| PRJNA704992 | ENA

In vivo genome editing restores dystrophin expression in Duchenne muscular dystrophy patient muscle fibers [WES]

Project description:Duchenne muscular dystrophy (DMD) is the most common fatal genetic disease. Clustered regularly interspaced short palindromic repeat (CRISPR)-mediated gene editing is a promising strategy for permanently curing DMD. In this study we developed a novel strategy for reframing DMD mutations by CRISPR-mediated large-scale excision of exons 46–54. We compared this approach to other DMD rescue strategies using DMD patient-derived primary muscle-derived stem cells (MDSCs) and found that it showed the highest efficiency in terms of restoring of dystrophin protein expression. We also confirmed that CRISPR from Prevotella and Francisella 1(Cpf1)-mediated genome editing could correct DMD mutation with higher specificity than CRISPR-associated protein 9 (Cas9). Furthermore, A patient-derived xenograft (PDX) DMD mouse model was established by transplanting DMD-MDSCs into immunodeficient mice. CRISPR gene editing components were intramuscularly delivered into the mouse model by adeno-associated virus vectors. Dystrophin expression levels were increased by 10%–30% in human DMD muscle fibers. The restored dystrophin in vivo was functional, as demonstrated by the expression of the dystrophin glycoprotein complex member β-dystroglycan. This study provides a sensitive indicator for in vivo efficacy of gene editing and lays the foundation for a clinical trial of DMD treatment with gene editing technology.

2021-02-28 | GSE167586 | GEO

Expression data from actomyosin contractility regulated genes

Project description:Actomyosin contractility regulates cell morphology and movement. The objective of this study was to identify whether actomyosin contractility regulates gene expression in tumour cells and whether such genes are involved in cell morphology and movement. Gene expression analysis was carried out on highly contractile melanoma cell line A375M2 plated on a deformable collagen matrix under conditions where actomyosin contractility could be altered following treatment with blebbistatin, a direct inhibitor of myosin II, or Rho-kinase inhibitors Y27632 or H1152 that interfere with signalling to myosin II. 18 samples (6 x 3 biological replicates). Cells were plated on rigid or deformable matrices. Rounded cells (A375M2 melanoma cells) plated on deformable matrices were left untreated or treated with Rho-kinase inhibitors Y27632, H1152 or blebbistatin an inhibitor of mysoin II.

2010-08-24 | E-GEOD-23764 | biostudies-arrayexpress

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