Evidence map›Paper›PMID 29651162›Full record

ArticleScientific reports2018

Quantitative Methods to Monitor RNA Biomarkers in Myotonic Dystrophy.

Marzena Wojciechowska, Krzysztof Sobczak, Piotr Kozlowski, Saam Sedehizadeh, Agnieszka Wojtkowiak-Szlachcic, Karol Czubak, Robert Markus, Anna Lusakowska, Anna Kaminska, J David Brook

Open access · goldAbstract read
In one paragraph

Article in Scientific reports, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers.

0numbers the graph read from it
0cells of the map it votes in
23citing papers in PubMed
1.8field-weighted citation impact, top 16% 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

23 citing papers in PubMed, 43 citations in OpenAlex.

  1. Delpacibart etedesiran improves the molecular pathology of myotonic dystrophy type 1 in the phase 1/2 MARINA study.Molecular therapy : the journal of the American Society of Gene Therapy · 2026
    Article
  2. Review
  3. Characterization ofNAR molecular medicine · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Context-Dependent Function of Long Noncoding RNAMolecular and cellular biology · 2022
    Article
  9. Article
  10. Review
  11. Article
  12. Article
  13. Review
  14. Regulatory Potential of Competing Endogenous RNAs in Myotonic Dystrophies.International journal of molecular sciences · 2021
    Review
  15. Article
  16. Article
  17. Review
  18. Precise small-molecule cleavage of an r(CUG) repeat expansion in a myotonic dystrophy mouse model.Proceedings of the National Academy of Sciences of the United States of America · 2019
    Article
  19. Article
  20. Expanded CUG repeats inRNA (New York, N.Y.) · 2019
    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

10 authors at 5 institutions in 2 countries.

Marzena WojciechowskaUniversity of Nottingham, Queen's Medical Centre, School of Life Sciences, Nottingham, NG7 2UH, United Kingdom. marzena.wojciechowska@nottingham.ac.uk.
Krzysztof SobczakInstitute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Department of Gene Expression, Poznan, 60-614, Poland.
Piotr KozlowskiInstitute of Bioorganic Chemistry, Polish Academy of Sciences, Department of Molecular Genetics, Poznan, 61-704, Poland.
Saam SedehizadehUniversity of Nottingham, Queen's Medical Centre, School of Life Sciences, Nottingham, NG7 2UH, United Kingdom.
Agnieszka Wojtkowiak-SzlachcicInstitute of Molecular Biology and Biotechnology, Adam Mickiewicz University, Department of Gene Expression, Poznan, 60-614, Poland.
Karol CzubakInstitute of Bioorganic Chemistry, Polish Academy of Sciences, Department of Molecular Genetics, Poznan, 61-704, Poland.
Robert MarkusUniversity of Nottingham, Queen's Medical Centre, School of Life Sciences, Nottingham, NG7 2UH, United Kingdom.
Anna LusakowskaMedical University of Warsaw, Department of Neurology, Warsaw, 02-097, Poland.
Anna KaminskaMedical University of Warsaw, Department of Neurology, Warsaw, 02-097, Poland.
J David BrookUniversity of Nottingham, Queen's Medical Centre, School of Life Sciences, Nottingham, NG7 2UH, United Kingdom. david.brook@nottingham.ac.uk.
Adam Mickiewicz University in Poznań · PLInstitute of Bioorganic Chemistry, Polish Academy of Sciences · PLMedical University of Warsaw · PLQueen's Medical Centre · GBUniversity of Nottingham · GB

Funding

Biotechnology and Biological Sciences Research Council BB/L013827/1Medical Research Council G0802629
6 · The paper itself

Abstract

Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are human neuromuscular disorders associated with mutations of simple repetitive sequences in affected genes. The abnormal expansion of CTG repeats in the 3'-UTR of the DMPK gene elicits DM1, whereas elongated CCTG repeats in intron 1 of ZNF9/CNBP triggers DM2. Pathogenesis of both disorders is manifested by nuclear retention of expanded repeat-containing RNAs and aberrant alternative splicing. The precise determination of absolute numbers of mutant RNA molecules is important for a better understanding of disease complexity and for accurate evaluation of the efficacy of therapeutic drugs. We present two quantitative methods, Multiplex Ligation-Dependent Probe Amplification and droplet digital PCR, for studying the mutant DMPK transcript (DMPK

Indexed as

3' Untranslated RegionsAlternative SplicingExonsFibroblastsGene ExpressionGene Expression ProfilingHumansIntronsMultiplex Polymerase Chain ReactionMyotonic DystrophyMyotonin-Protein KinasePrimary Cell CultureRNA-Binding ProteinsRNA, MessengerSeverity of Illness IndexTrinucleotide Repeats3' Untranslated RegionsCNBP protein, humanDMPK protein, humanMyotonin-Protein KinaseRNA-Binding ProteinsRNA, Messenger

Identifiers

PMID29651162
PMCPMC5897446
OpenAlexW2799915088

What OpenQuestion 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 OpenQuestion graph.