Evidence map›Paper›PMID 30446612›Full record

ArticleProceedings of the National Academy of Sciences of the United States of America2018

Targeted exon skipping of a

Simon A Ramsbottom, Elisa Molinari, Shalabh Srivastava, Flora Silberman, Charline Henry, Sumaya Alkanderi, Laura A Devlin, Kathryn White, David H Steel, Sophie Saunier and 2 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in Proceedings of the National Academy of Sciences of the United States of America, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 papers.

0numbers the graph read from it
0cells of the map it votes in
43citing papers in PubMed
4.9field-weighted citation impact, top 4% 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

43 citing papers in PubMed, 69 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Review
  8. Article
  9. Mechanisms of photoreceptor protection upon targeting theProceedings of the National Academy of Sciences of the United States of America · 2025
    Article
  10. Exon Skipping Therapies for Rare Kidney Diseases.Journal of the American Society of Nephrology : JASN · 2025
    Article
  11. Article
  12. Article
  13. RNA-Based Therapies in Kidney Diseases.Journal of inflammation research · 2025
    Review
  14. Review
  15. Renal insufficiency caused byFrontiers in medicine · 2025
    Article
  16. Gene therapy and kidney diseases.Molecular therapy. Methods & clinical development · 2024
    Review
  17. Article
  18. Article
  19. Germline knockout ofProceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  20. Review
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

12 authors at 4 institutions in 2 countries.

Simon A RamsbottomInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.ORCID 000-0001-8531-1534
Elisa MolinariInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Shalabh SrivastavaInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Flora SilbermanLaboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Charline HenryLaboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Sumaya AlkanderiInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Laura A DevlinInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Kathryn WhiteElectron Microscopy Research Services, Medical School, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.
David H SteelInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom.
Sophie SaunierLaboratory of Hereditary Kidney Diseases, INSERM UMR 1163, Sorbonne Paris Cité University, Imagine Institute, 75015 Paris, France.
Colin G MilesInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom; colin.miles@newcastle.ac.uk john.sayer@newcastle.ac.uk.
John A SayerInstitute of Genetic Medicine, Newcastle University, International Centre for Life, Central Parkway, Newcastle upon Tyne NE1 3BZ, United Kingdom; colin.miles@newcastle.ac.uk john.sayer@newcastle.ac.uk.ORCID 0000-0003-1881-3782
Centre for Life · GBInserm · FRNewcastle upon Tyne Hospitals NHS Foundation Trust · GBNewcastle University · GB

Funding

Medical Research Council MR/M012212/1
6 · The paper itself

Abstract

Genetic treatments of renal ciliopathies leading to cystic kidney disease would provide a real advance in current therapies. Mutations in

Indexed as

Abnormalities, MultipleAdolescentAnimalsAntigens, NeoplasmCell Cycle ProteinsCells, CulturedCerebellumCytoskeletal ProteinsEpithelial CellsExonsEye AbnormalitiesHumansKidneyKidney Diseases, CysticMaleMiceAntigens, NeoplasmCell Cycle ProteinsCep290 protein, mouseCytoskeletal ProteinsNuclear Proteinsantisense oligonucleotide therapyCep290ciliopathycystic kidneyJoubert syndrome

Identifiers

PMID30446612
PMCPMC6298104
OpenAlexW2900930720

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.