Evidence map›Paper›PMID 34820881›Full record

ReviewNeuropathology and applied neurobiology2022

Non-coding regulatory elements: Potential roles in disease and the case of epilepsy.

Susanna Pagni, James D Mills, Adam Frankish, Jonathan M Mudge, Sanjay M Sisodiya

Open access · hybridAbstract readReview
In one paragraph

Review in Neuropathology and applied neurobiology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed
1.7field-weighted citation impact, top 15% 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

20 citing papers in PubMed, 27 citations in OpenAlex.

  1. Trial
  2. Article
  3. Article
  4. Heterogeneity of monogenic epilepsy in loci, phenotypes, and treatment approaches.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Review
  5. Article
  6. Review
  7. Review
  8. Review
  9. Article
  10. Review
  11. Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. A body map of super-enhancers and their function in pig.Frontiers in veterinary science · 2023
    Article
  17. Article
  18. Molecular role of non-exonic variants inFrontiers in endocrinology · 2023
    Article
  19. Review
  20. 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

5 authors at 4 institutions in 3 countries.

Susanna PagniDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
James D MillsDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Adam FrankishEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.
Jonathan M MudgeEuropean Molecular Biology Laboratory, European Bioinformatics Institute, Cambridge, UK.
Sanjay M SisodiyaDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, UK.
Epilepsy Society · GBBioinformatics Institute · RUEuropean Bioinformatics Institute · GBUniversity College London · GB

Funding

GENCODE Resource ProjectU41HG007234 · NHGRI · SANGER INSTITUTE · PI FLICEK, PAUL · 2013 to 2020
$20.3M
NHGRI NIH HHS U41 HG007234Wellcome TrustWellcome Trust 108749/Z/15/Z
6 · The paper itself

Abstract

Non-coding DNA (ncDNA) refers to the portion of the genome that does not code for proteins and accounts for the greatest physical proportion of the human genome. ncDNA includes sequences that are transcribed into RNA molecules, such as ribosomal RNAs (rRNAs), microRNAs (miRNAs), long non-coding RNAs (lncRNAs) and un-transcribed sequences that have regulatory functions, including gene promoters and enhancers. Variation in non-coding regions of the genome have an established role in human disease, with growing evidence from many areas, including several cancers, Parkinson's disease and autism. Here, we review the features and functions of the regulatory elements that are present in the non-coding genome and the role that these regions have in human disease. We then review the existing research in epilepsy and emphasise the potential value of further exploring non-coding regulatory elements in epilepsy. In addition, we outline the most widely used techniques for recognising regulatory elements throughout the genome, current methodologies for investigating variation and the main challenges associated with research in the field of non-coding DNA.

Indexed as

EpilepsyMicroRNAsRNA, Long NoncodingGenomeHumansMicroRNAsRNA, Long Noncodingepilepsygene regulationnon-coding DNAnon-coding mutationsregulatory sequences

Identifiers

PMID34820881
PMCPMC8917000
OpenAlexW3217153591

What OpenQuestion holds

Textmetadata
LicenceTDM
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.