Evidence map›Paper›PMID 28584052›Full record

ArticleThe Journal of biological chemistry2017

Mutations in

Anke P Willems, Mehmet Gundogdu, Marlies J E Kempers, Jacques C Giltay, Rolph Pfundt, Martin Elferink, Bettina F Loza, Joris Fuijkschot, Andrew T Ferenbach, Koen L I van Gassen and 2 more

Open access · hybridAbstract read
In one paragraph

Article in The Journal of biological chemistry, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 60 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
60citing papers in PubMed, 1 pooled it
4.1field-weighted citation impact, top 5% 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

60 citing papers in PubMed, 1 synthesis or guideline pooled it, 104 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Review
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Review
  11. HumanResearch square · 2025
    Article
  12. Article
  13. Article
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  15. Review
  16. Review
  17. Review
  18. Tissue-specificeLife · 2024
    Article
  19. Article
  20. Phage display uncovers a sequence motif that drives polypeptide binding to a conserved regulatory exosite of O-GlcNAc transferase.Proceedings of the National Academy of Sciences of the United States of America · 2023
    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

12 authors at 6 institutions in 3 countries.

Anke P WillemsDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands.
Mehmet GundogduCentre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, Scotland, United Kingdom.
Marlies J E KempersDepartment of Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
Jacques C GiltayDepartment of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, The Netherlands.
Rolph PfundtDepartment of Genetics, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands.
Martin ElferinkDepartment of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, The Netherlands.
Bettina F LozaDepartment of Paediatrics, VieCuri Hospital, 5900 BX Venlo, The Netherlands.
Joris FuijkschotDepartment of Paediatrics, Radboud University Medical Centre and Amalia Children's Hospital, 6500 HB Nijmegen, The Netherlands.
Andrew T FerenbachCentre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, Scotland, United Kingdom.
Koen L I van GassenDepartment of Genetics, University Medical Centre Utrecht, 3508 AB Utrecht, The Netherlands.
Daan M F van AaltenCentre for Gene Regulation and Expression, School of Life Sciences, University of Dundee, DD1 5EH Dundee, Scotland, United Kingdom. Electronic address: dmfvanaalten@dundee.ac.uk.
Dirk J LefeberDepartment of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Centre, 6500 HB Nijmegen, The Netherlands; Department of Laboratory Medicine, Translational Metabolic Laboratory, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, 6525 GA Nijmegen, The Netherlands. Electronic address: Dirk.Lefeber@Radboudumc.nl.
Radboud University Nijmegen · NLUniversity Medical Center Utrecht · NLUniversity of Dundee · GBRadboud Institute for Molecular Life Sciences · NLUniversity Medical Center · USVieCuri Medisch Centrum · NL

Funding

Wellcome Trust 110061
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

MutationCells, CulturedChildChild, PreschoolCloning, MolecularDNAHumansIntellectual DisabilityMaleN-AcetylglucosaminyltransferasesRecombinant ProteinsDNAN-AcetylglucosaminyltransferasesO-GlcNAc transferaseRecombinant ProteinsCongenital Disorders of GlycosylationglycobiologyglycosyltransferaseHost Cell Factor 1 (HCF-1)metabolic diseaseO-GlcNAcylationO-linked N-acetylglucosamine (O-GlcNAc) transferase (OGT)X-linked Intellectual Disability

Identifiers

PMID28584052
PMCPMC5535036
OpenAlexW2623343525

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.