Evidence map›Paper›PMID 35388741›Full record

ArticleRNA biology2022

Circulating small RNA signatures differentiate accurately the subtypes of muscular dystrophies: small-RNA next-generation sequencing analytics and functional insights.

Andrea C Kakouri, Demetris Koutalianos, Andrie Koutsoulidou, Anastasis Oulas, Marios Tomazou, Nikoletta Nikolenko, Chris Turner, Andreas Roos, Anna Lusakowska, Katarzyna Janiszewska and 8 more

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in RNA biology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed, 1 pooled it
0.2field-weighted citation impact, top 53% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

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.

2 · The registry

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.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed, 1 synthesis or guideline pooled it, 4 citations in OpenAlex.

  1. Pooled it
  2. Review
  3. RNA therapeutics.RNA biology · 2024
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors at 8 institutions in 7 countries.

Andrea C KakouriDepartment of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Demetris KoutalianosDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Andrie KoutsoulidouDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Anastasis OulasDepartment of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Marios TomazouDepartment of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Nikoletta NikolenkoNational Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.
Chris TurnerNational Hospital for Neurology and Neurosurgery, Queen Square, University College London Hospitals NHS Foundation Trust, London, UK.
Andreas RoosDepartment of Neuropediatrics, University Hospital Essen, Duisburg-Essen University, Germany.
Anna LusakowskaDepartment of Neurology, Medical University of Warsaw, Warsaw, Poland.
Katarzyna JaniszewskaDepartment of Neurology, Central Hospital of Medical University of Warsaw, Poland.
George K PapadimasDepartment of Neurology, Eginitio hospital, Medical School of Athens, Athens, Greece.
Constantinos PapadopoulosDepartment of Neurology, Eginitio hospital, Medical School of Athens, Athens, Greece.
Evangelia KararizouDepartment of Neurology, Eginitio hospital, Medical School of Athens, Athens, Greece.
Eleni Zamba PapanicolaouNeuroepidemiology Department, Cyprus Institute of Neurology & Genetics, Nicosia, Cyprus.
Grainne GormanWellcome Trust Centre for Mitochondrial Research, Institute of Neuroscience, University of Newcastle, Newcastle, UK.
Hanns LochmüllerDivision of Neurology, Department of Medicine, Childrens Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON, Canada.
George M SpyrouDepartment of Bioinformatics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Leonidas A PhylactouDepartment of Molecular Genetics, Function & Therapy, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus.
Cyprus Institute of Neurology and Genetics · CYEginition Hospital · GRNational Hospital for Neurology and Neurosurgery · GBCentral Clinical Hospital · PLMedical University of Warsaw · PLOttawa Hospital · CAUniversity of Ottawa · CAWellcome Centre for Mitochondrial Research · GB

Funding

CIHR FDN-167281
6 · The paper itself

Abstract

Muscular dystrophies are a group of rare and severe inherited disorders mainly affecting the muscle tissue. Duchene Muscular Dystrophy, Myotonic Dystrophy types 1 and 2, Limb Girdle Muscular Dystrophy and Facioscapulohumeral Muscular Dystrophy are some of the members of this family of disorders. In addition to the current diagnostic tools, there is an increasing interest for the development of novel non-invasive biomarkers for the diagnosis and monitoring of these diseases. miRNAs are small RNA molecules characterized by high stability in blood thus making them ideal biomarker candidates for various diseases. In this study, we present the first genome-wide next-generation small RNA sequencing in serum samples of five different types of muscular dystrophy patients and healthy individuals. We identified many small RNAs including miRNAs, lncRNAs, tRNAs, snoRNAs and snRNAs, that differentially discriminate the muscular dystrophy patients from the healthy individuals. Further analysis of the identified miRNAs showed that some miRNAs can distinguish the muscular dystrophy patients from controls and other miRNAs are specific to the type of muscular dystrophy. Bioinformatics analysis of the target genes for the most significant miRNAs and the biological role of these genes revealed different pathways that the dysregulated miRNAs are involved in each type of muscular dystrophy investigated. In conclusion, this study shows unique signatures of small RNAs circulating in five types of muscular dystrophy patients and provides a useful resource for future studies for the development of miRNA biomarkers in muscular dystrophies and for their involvement in the pathogenesis of the disorders.

Indexed as

MicroRNAsMuscular DystrophiesMyotonic DystrophyBiomarkersHigh-Throughput Nucleotide SequencingHumansBiomarkersMicroRNAsbiomarkersmiRNAsmuscular dystrophiesNGSSmall RNAs

Identifiers

PMID35388741
PMCPMC8993092
OpenAlexW4225986868

What Socratic holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

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 Socratic graph.