ArticleHGG advances2022
RNA-seq in DMD urinary stem cells recognized muscle-related transcription signatures and addressed the identification of atypical mutations by whole-genome sequencing.
Article in HGG advances, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
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Who cites it
10 citing papers in PubMed, 12 citations in OpenAlex.
- Characterisation of Urine-Derived Cells for the Molecular Diagnosis of Rare Disorders.International journal of molecular sciences · 2026Article
- Optical genome mapping identifies a balanced inversion disrupting DMD in a patient with Duchenne muscular dystrophy.Molecular cytogenetics · 2025Article
- Identifying inversions with breakpoints in the Dystrophin gene through long-read sequencing: report of two cases.BMC medical genomics · 2024Article
- Exome Sequencing and Optical Genome Mapping in Molecularly Unsolved Cases of Duchenne Muscular Dystrophy: Identification of a Causative X-Chromosomal Inversion Disrupting theInternational journal of molecular sciences · 2023Article
- Advances in Dystrophinopathy Diagnosis and Therapy.Biomolecules · 2023Review
- Field-Flow Fractionation in Molecular Biology and Biotechnology.Molecules (Basel, Switzerland) · 2023Review
- Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline.European journal of human genetics : EJHG · 2023Article
- A Proof of Principle Proteomic Study Detects Dystrophin in Human Plasma: Implications in DMD Diagnosis and Clinical Monitoring.International journal of molecular sciences · 2023Article
- Review
- Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
23 authors at 9 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Urinary stem cells (USCs) are a non-invasive, simple, and affordable cell source to study human diseases. Here we show that USCs are a versatile tool for studying Duchenne muscular dystrophy (DMD), since they are able to address RNA signatures and atypical mutation identification. Gene expression profiling of DMD individuals' USCs revealed a profound deregulation of inflammation, muscle development, and metabolic pathways that mirrors the known transcriptional landscape of DMD muscle and worsens following USCs' myogenic transformation. This pathogenic transcription signature was reverted by an exon-skipping corrective approach, suggesting the utility of USCs in monitoring DMD antisense therapy. The full DMD transcript profile performed in USCs from three undiagnosed DMD individuals addressed three splicing abnormalities, which were decrypted and confirmed as pathogenic variations by whole-genome sequencing (WGS). This combined genomic approach allowed the identification of three atypical and complex
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.