ArticleNature communications2018
Analysis of extracellular mRNA in human urine reveals splice variant biomarkers of muscular dystrophies.
Article in Nature communications, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to 3 registered trials, which are not on this map. Cited by 33 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Extracellular RNA Biomarkers of Duchenne Muscular Dystrophy
Biomarker Development for Muscular Dystrophies
Extracellular RNA Biomarkers of Myotonic Dystrophy
Who cites it
33 citing papers in PubMed, 60 citations in OpenAlex.
- Current biomarker development in myotonic dystrophies.Journal of neurology · 2026Review
- Metabolite biomarkers present in urine predict alterations in skeletal muscle associated with sarcopenia.Frontiers in aging · 2026Article
- Splice Modulation Studies Using Urine-Derived Cells.Methods in molecular biology (Clifton, N.J.) · 2026Article
- Development of an AAV-delivered microRNA gene therapy for myotonic dystrophy type 1.Molecular therapy : the journal of the American Society of Gene Therapy · 2025Article
- Elevated Levels of Active GSK3β in the Blood of Patients with Myotonic Dystrophy Type 1 Correlate with Muscle Weakness.International journal of molecular sciences · 2025Article
- Myotonic dystrophy type 1: clinical diversity, molecular insights and therapeutic perspectives.Nature reviews. Neurology · 2025Review
- Analysis of human urinary extracellular vesicles reveals disordered renal metabolism in myotonic dystrophy type 1.Nature communications · 2025Article
- Aggregation-Induced Emission Luminogen: Role in Biopsy for Precision Medicine.Chemical reviews · 2024Review
- Precise control of transmembrane current via regulating bionic lipid membrane composition.Science advances · 2024Article
- Widespread alternative splicing dysregulation occurs presymptomatically in CAG expansion spinocerebellar ataxias.Brain : a journal of neurology · 2024Article
- Genome-wide mRNA profiling in urinary extracellular vesicles reveals stress gene signature for diabetic kidney disease.iScience · 2023Article
- Correction of Clcn1 alternative splicing reverses muscle fiber type transition in mice with myotonic dystrophy.Nature communications · 2023Article
- Quantitative Evaluation of Exon Skipping in Urine-Derived Cells for Duchenne Muscular Dystrophy.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Application of Droplet Digital PCR Technology in Muscular Dystrophies Research.International journal of molecular sciences · 2022Review
- Blood Transcriptome Profiling Links Immunity to Disease Severity in Myotonic Dystrophy Type 1 (DM1).International journal of molecular sciences · 2022Article
- Intracellular and intercellular transport of RNA organelles in CXG repeat disorders: The strength of weak ties.Frontiers in molecular biosciences · 2022Review
- Quantitative muscle MRI as a sensitive marker of early muscle pathology in myotonic dystrophy type 1.Muscle & nerve · 2021Article
- Antisense oligonucleotide and adjuvant exercise therapy reverse fatigue in old mice with myotonic dystrophy.Molecular therapy. Nucleic acids · 2021Article
- Transcriptome alterations in myotonic dystrophy frontal cortex.Cell reports · 2021Article
- Integrative analysis of long extracellular RNAs reveals a detection panel of noncoding RNAs for liver cancer.Theranostics · 2021Article
Corrections and comments
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
Abstract
Urine contains extracellular RNA (exRNA) markers of urogenital cancers. However, the capacity of genetic material in urine to identify systemic diseases is unknown. Here we describe exRNA splice products in human urine as a source of biomarkers for the two most common forms of muscular dystrophies, myotonic dystrophy (DM) and Duchenne muscular dystrophy (DMD). Using a training set, RT-PCR, droplet digital PCR, and principal component regression, we identify ten transcripts that are spliced differently in urine exRNA from patients with DM type 1 (DM1) as compared to unaffected or disease controls, form a composite biomarker, and develop a predictive model that is 100% accurate in our independent validation set. Urine also contains mutation-specific DMD mRNAs that confirm exon-skipping activity of the antisense oligonucleotide drug eteplirsen. Our results establish that urine mRNA splice variants can be used to monitor systemic diseases with minimal or no clinical effect on the urinary tract.
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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.