Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings

Prenatal Exome Sequencing Analysis in Fetuses with Various Ultrasound Findings
    This study evaluated the effectiveness of prenatal Exome Sequencing (ES) in detecting genetic abnormalities in fetuses with various ultrasound findings, even in cases where ES was not initially indicated. The researchers compared ES with chromosomal microarray analysis (CMA) to identify Copy Number Variants (CNVs) and monogenic disorders. Among 59 pregnancies, common aneuploidies were detected in 10% of cases through QF-PCR, and no pathogenic CNVs were found in the …
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Transcriptional dysregulation of autophagy in the muscle of a mouse model of Duchenne muscular dystrophy

Transcriptional dysregulation of autophagy in the muscle of a mouse model of Duchenne muscular dystrophy
Duchenne muscular dystrophy (DMD) is a genetic disorder characterized by progressive muscle weakness due to the absence of dystrophin. This study investigates the disruption of autophagy, a cellular process that degrades damaged proteins and organelles, in the skeletal muscles of DMD patients and mdx mice, a common model for DMD. The research found that autophagy-related genes are significantly downregulated in dystrophin-deficient muscles, primarily due to the phosphorylation and subsequent inactivation …
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REST/NRSF preserves muscle stem cell identity and survival by repressing alternate cell fates

REST/NRSF preserves muscle stem cell identity and survival by repressing alternate cell fates
    This study investigates the critical role of the Repressor Element 1-Silencing Transcription Factor (REST), also known as Neuron-Restrictive Silencer Factor (NRSF), in maintaining the identity and function of muscle stem cells (MuSCs). MuSCs are responsible for the lifelong regeneration of skeletal muscle, and their proper function depends on the repression of non-muscle lineage genes. REST plays a key role in this process by actively silencing these genes, preventing …
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Transcriptional dysregulation of autophagy in the muscle of a mouse model of Duchenne muscular dystrophy

Transcriptional dysregulation of autophagy in the muscle of a mouse model of Duchenne muscular dystrophy
  Personal take on this article: Abstract: This study investigates the transcriptional dysregulation of autophagy in the skeletal muscles of mdx mice, a well-established model for Duchenne muscular dystrophy (DMD). The primary focus is on the roles of FoxO transcription factors (FoxO1 and FoxO3a) and transcription factor EB (TFEB), which are pivotal in regulating autophagy-related genes. The findings reveal significant downregulation of these genes in dystrophin-deficient muscles due to phosphorylation-mediated …
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Identifying hub genes and dysregulated pathways in Duchenne muscular dystrophy

Abstract: Purpose: This study aims to identify hub genes and dysregulated pathways in the progression of Duchenne muscular dystrophy (DMD) and elucidate the cellular and molecular mechanisms associated with DMD to develop effective treatments. Material and Methods: Datasets: Three mRNA microarray datasets (GSE13608, GSE38417, and GSE109178) were downloaded from the Gene Expression Omnibus (GEO). Analysis Tools: The R package was used to identify differentially expressed genes (DEGs) between DMD and …
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Moving towards successful exon-skipping therapy for Duchenne muscular dystrophy

Moving towards successful exon-skipping therapy for Duchenne muscular dystrophy
Personal take on this article:   Summary: Duchenne muscular dystrophy (DMD) is a severe, X-linked disorder characterized by progressive muscle wasting due to mutations in the dystrophin gene. Exon-skipping therapy, utilizing antisense oligonucleotides (AOs), aims to bypass mutated exons, restoring the reading frame and enabling the production of functional dystrophin, thereby converting DMD to a milder Becker muscular dystrophy (BMD) phenotype.   1. Introduction:   - DMD is caused by …
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The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments

The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments
  Personal take on this article:   This article explores dysferlinopathies, a group of muscular dystrophies leading to muscle weakness due to mutations in the DYSF gene. The gene is responsible for producing dysferlin, a vital protein for muscle membrane repair. The review covers the clinical aspects, molecular mechanisms, and emerging therapies for dysferlinopathies. It emphasizes the varied symptoms and the challenge of understanding how specific mutations relate to the …
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Duchenne muscular dystrophy: promising early-stage clinical trials to watch

Duchenne muscular dystrophy: promising early-stage clinical trials to watch
Personal take on this article:   Duchenne muscular dystrophy (DMD) is a serious condition without a cure. Instead, treatments aim to slow down its progression. Currently, there are experimental treatments in phase I trials that could offer new options for patients.     This review discusses ongoing and recent early-stage trials for DMD treatments. These include therapies that skip certain genetic sections (exons) and gene therapies. Additionally, it covers phase …
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Wnt7a is Required for Regeneration of Dystrophic Skeletal Muscle

Wnt7a is Required for Regeneration of Dystrophic Skeletal Muscle
  Personal take on this article:   The injection of Wnt7a into muscles has been shown to speed up muscle repair and improve muscle health in a mouse model of Duchenne muscular dystrophy (DMD). However, it's not clear if Wnt7a is necessary for muscle repair. In this study, we looked at mice with and without Wnt7a in their muscles to see how well their muscles could heal after injury. We …
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Isolation of small extracellular vesicles from regenerating muscle tissue using Tangential Flow Filt

Isolation of small extracellular vesicles from regenerating muscle tissue using Tangential Flow Filt
  We discovered that a protein called Wnt7a is elevated and released from newly regenerating muscle fibers in response to muscle injury, triggering a healing response. However, isolating extracellular vesicles (EVs) from muscle tissue is challenging. Traditional methods, like ultracentrifugation, often lead to contamination with non-EV proteins and cellular fragments. To overcome this, we developed a new protocol using Tangential Flow Filtration (TFF) and Size Exclusion Chromatography (SEC). This method …
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