Evidence map›Paper›PMID 36009385›Full record

ArticleBiomedicines2022

miRNAs and isomiRs: Serum-Based Biomarkers for the Development of Intellectual Disability and Autism Spectrum Disorder in Tuberous Sclerosis Complex.

Mirte Scheper, Alessia Romagnolo, Zein Mersini Besharat, Anand M Iyer, Romina Moavero, Christoph Hertzberg, Bernhard Weschke, Kate Riney, Martha Feucht, Theresa Scholl and 20 more

Open access · goldAbstract read
In one paragraph

Article in Biomedicines, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
1.5field-weighted citation impact, top 17% 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

7 citing papers in PubMed, 13 citations in OpenAlex.

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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

30 authors at 17 institutions in 11 countries.

Mirte ScheperDepartment of (Neuro)Pathology Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0002-0676-4701
Alessia RomagnoloDepartment of (Neuro)Pathology Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-5357-0961
Zein Mersini BesharatDepartment of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0003-0317-9854
Anand M IyerDepartment of (Neuro)Pathology Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0001-6821-1048
Romina MoaveroChild Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, 00133 Rome, Italy.
Christoph HertzbergDiagnose-und Behandlungszentrum für Kinder, Vivantes-Klinikum Neukölln, 12351 Berlin, Germany.
Bernhard WeschkeDepartment of Neuropediatrics, Charité University Medicine Berlin, 13353 Berlin, Germany.
Kate RineyFaculty of Medicine, The University of Queensland, Herston, QLD 4029, Australia.
Martha FeuchtDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, "Member of ERN EpiCARE", 1090 Vienna, Austria.ORCID 0000-0001-7691-8158
Theresa SchollDepartment of Pediatrics and Adolescent Medicine, Medical University of Vienna, "Member of ERN EpiCARE", 1090 Vienna, Austria.
Borivoj PetrakMotol University Hospital, Charles University, 15000 Prague, Czech Republic.
Alice MaulisovaMotol University Hospital, Charles University, 15000 Prague, Czech Republic.ORCID 0000-0001-7026-8238
Rima NabboutReference Centre for Rare Epilepsies, Department of Pediatric Neurology, Necker Enfants Malades University Hospital, APHP, Member of ERN EpiCARE, Université de Paris, 149 Rue de Sèvres, 75015 Paris, France.
Anna C JansenDepartment of Translational Neurosciences, University of Antwerp, 2000 Antwerp, Belgium.
Floor E JansenDepartment of Child Neurology, Brain Center University Medical Center, Member of ERN EpiCare, 3584 BA Utrecht, The Netherlands.
Lieven LagaeDepartment of Development and Regeneration Section Pediatric Neurology, University Hospitals KU Leuven, 3000 Leuven, Belgium.
Malgorzata UrbanskaDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Elisabetta FerrettiDepartment of Experimental Medicine, Sapienza University of Rome, 00161 Rome, Italy.ORCID 0000-0001-7265-6429
Aleksandra TempesInternational Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland.ORCID 0000-0001-7870-6212
Magdalena BlazejczykInternational Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland.
Jacek JaworskiInternational Institute of Molecular and Cell Biology, 02-109 Warsaw, Poland.
David J KwiatkowskiDepartment of Medicine, Brigham and Women's Hospital, Boston, MA 02115, USA.
Sergiusz JozwiakDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.ORCID 0000-0003-3350-6326
Katarzyna KotulskaDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Krzysztof SadowskiDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Julita BorkowskaDepartment of Neurology and Epileptology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Paolo CuratoloChild Neurology and Psychiatry Unit, Systems Medicine Department, Tor Vergata University, 00133 Rome, Italy.
James D MillsDepartment of (Neuro)Pathology Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.
Eleonora AronicaDepartment of (Neuro)Pathology Amsterdam Neuroscience, Amsterdam UMC Location University of Amsterdam, Meibergdreef 9, 1105 AZ Amsterdam, The Netherlands.ORCID 0000-0002-3542-3770
Epistop Consortium Members
Amsterdam Neuroscience · NLChildren's Memorial Health Institute · PLInternational Institute of Molecular and Cell Biology · PLCharles University · CZMedical University of Vienna · ATSapienza University of Rome · ITUniversity of Rome Tor Vergata · ITBrigham and Women's Hospital · USCharité - Universitätsmedizin Berlin · DEErasmus MC · NLKU Leuven · BEMedical University of Warsaw · PLThe University of Queensland · AUUniversité Paris Cité · FRUniversity Medical Center Utrecht · NLUniversity of Antwerp · BEVivantes Klinikum · DE

Funding

EPI-BIO-MIR LSHM17051-SGFEPIMARKER STRATEGMED3/306,306/4/2016EU H2020-Twinning project EpiEpiNet 952455Framework Programme FP7/2007-2013 602391
6 · The paper itself

Abstract

Tuberous sclerosis complex (TSC) is a rare multi-system genetic disorder characterized by a high incidence of epilepsy and neuropsychiatric manifestations known as tuberous-sclerosis-associated neuropsychiatric disorders (TANDs), including autism spectrum disorder (ASD) and intellectual disability (ID). MicroRNAs (miRNAs) are small regulatory non-coding RNAs that regulate the expression of more than 60% of all protein-coding genes in humans and have been reported to be dysregulated in several diseases, including TSC. In the current study, RNA sequencing analysis was performed to define the miRNA and isoform (isomiR) expression patterns in serum. A Receiver Operating Characteristic (ROC) curve analysis was used to identify circulating molecular biomarkers, miRNAs, and isomiRs, able to discriminate the development of neuropsychiatric comorbidity, either ASD, ID, or ASD + ID, in patients with TSC. Part of our bioinformatics predictions was verified with RT-qPCR performed on RNA isolated from patients' serum. Our results support the notion that circulating miRNAs and isomiRs have the potential to aid standard clinical testing in the early risk assessment of ASD and ID development in TSC patients.

Indexed as

autism spectrum disorderbiomarkersepilepsyintellectual disabilityserumtuberous sclerosis complex

Identifiers

PMID36009385
PMCPMC9405248
OpenAlexW4289111267

What OpenQuestion holds

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Registered trials

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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.