Evidence map›Paper›PMID 29610478›Full record

ArticleNature genetics2018

Natural regulatory mutations elevate the fetal globin gene via disruption of BCL11A or ZBTB7A binding.

Gabriella E Martyn, Beeke Wienert, Lu Yang, Manan Shah, Laura J Norton, Jon Burdach, Ryo Kurita, Yukio Nakamura, Richard C M Pearson, Alister P W Funnell and 2 more

Abstract read
PubMed Publisher
In one paragraph

Article in Nature genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 190 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
190citing papers in PubMed, 2 pooled it
19.8field-weighted citation impact, top 1% 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

190 citing papers in PubMed, 2 syntheses or guidelines pooled it, 290 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Article
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  7. Article
  8. Article
  9. New Gene Therapy Strategy for β-Thalassemia.Stem cell reviews and reports · 2026
    Review
  10. Article
  11. Article
  12. Article
  13. Review
  14. Article
  15. Dissecting polycomb complexes for enhanced fetal hemoglobin production.bioRxiv : the preprint server for biology · 2026
    Article
  16. Article
  17. Article
  18. Article
  19. Review
  20. Article

130 more citing papers are in PubMed but not listed here.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

12 authors at 3 institutions in 2 countries.

Gabriella E Martyn *School of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Beeke Wienert *School of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Lu YangSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Manan ShahSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Laura J NortonSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Jon BurdachSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Ryo KuritaResearch and Development Department, Central Blood Institute, Blood Service Headquarters, Japanese Red Cross Society, Tokyo, Japan.
Yukio NakamuraCell Engineering Division, RIKEN BioResource Center, Ibaraki, Japan.
Richard C M PearsonSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Alister P W FunnellSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Kate G R QuinlanSchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia.
Merlin CrossleySchool of Biotechnology and Biomolecular Sciences, University of New South Wales (UNSW) Sydney, Sydney, New South Wales, Australia. m.crossley@unsw.edu.au.ORCID http://orcid.org/0000-0003-2057-3642
UNSW Sydney · AUJapanese Red Cross Society, Japan · JPRIKEN BioResource Research Center · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

β-hemoglobinopathies such as sickle cell disease (SCD) and β-thalassemia result from mutations in the adult HBB (β-globin) gene. Reactivating the developmentally silenced fetal HBG1 and HBG2 (γ-globin) genes is a therapeutic goal for treating SCD and β-thalassemia

Indexed as

MutationAnemia, Sickle CellBase Sequencebeta-ThalassemiaBinding SitesCarrier ProteinsCell LineCRISPR-Cas SystemsDNA-Binding ProteinsFetal Hemoglobingamma-GlobinsHumansNuclear ProteinsPromoter Regions, GeneticRepressor ProteinsRNA, MessengerBCL11A protein, humanCarrier ProteinsDNA-Binding ProteinsFetal Hemoglobingamma-GlobinsNuclear ProteinsRepressor ProteinsRNA, MessengerTranscription FactorsZBTB7A protein, human

Identifiers

PMID29610478
OpenAlexW2794952277

What OpenQuestion holds

Textmetadata
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.