Evidence map›Paper›PMID 28473463›Full record

ArticleDiabetes2017

Recessively Inherited

Matthew B Johnson, Elisa De Franco, Hana Lango Allen, Aisha Al Senani, Nancy Elbarbary, Zeynep Siklar, Merih Berberoglu, Zineb Imane, Alireza Haghighi, Zahra Razavi and 6 more

Erratum issuedOpen access · bronzeAbstract read
In one paragraph

Article in Diabetes, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. An erratum has been issued. Cited by 37 papers.

0numbers the graph read from it
0cells of the map it votes in
37citing papers in PubMed
3.2field-weighted citation impact, top 7% 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

37 citing papers in PubMed, 84 citations in OpenAlex.

  1. Review
  2. Article
  3. A precision medicine approach to primary immunodeficiency disease: Ataluren strikes nonsense mutations once again.Molecular therapy : the journal of the American Society of Gene Therapy · 2025
    Article
  4. Article
  5. Article
  6. Article
  7. Article
  8. Article
  9. Review
  10. Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.Diabetic medicine : a journal of the British Diabetic Association · 2023
    Article
  11. Review
  12. Article
  13. Monogenic diabetes.Nature reviews. Disease primers · 2023
    Review
  14. Article
  15. Early-Onset Diabetes in an Infant with a Novel Frameshift Mutation in LRBA.International journal of environmental research and public health · 2022
    Article
  16. Growth and development in monogenic forms of neonatal diabetes.Current opinion in endocrinology, diabetes, and obesity · 2022
    Review
  17. Review
  18. Article
  19. Article
  20. Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

16 authors at 9 institutions in 8 countries.

Matthew B JohnsonInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Elisa De FrancoInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.ORCID 0000-0002-6519-6687
Hana Lango AllenInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Aisha Al SenaniThe Royal Hospital Oman, Muscat, Oman.
Nancy ElbarbaryDepartment of Pediatrics, Ain Shams University, Cairo, Egypt.
Zeynep SiklarAnkara University School of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey.
Merih BerberogluAnkara University School of Medicine, Department of Pediatric Endocrinology, Ankara, Turkey.
Zineb ImaneRabat Children's Hospital, Université Mohammed V Souissi, Rabat, Morocco.
Alireza HaghighiDivision of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA.
Zahra RazaviDepartment of Pediatrics, Besat Hospital, Hamadan University of Medical Sciences, Hamadan, Iran.
Irfan UllahSultan Qaboos University Hospital, Muscat, Oman.
Saif AlyaarubiSultan Qaboos University Hospital, Muscat, Oman.
Daphne GardnerAcademia Endocrinology Department, Singapore General Hospital, Singapore.
Sian EllardInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
Andrew T HattersleyInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K. a.t.hattersley@exeter.ac.uk.ORCID 0000-0001-5620-473X
Sarah E FlanaganInstitute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, U.K.
University of Exeter · GBAnkara University · TRSultan Qaboos University Hospital · OMAin Shams University · EGBroad Institute · USHamedan University of Medical Sciences · IRMohammed V University · MARoyal Hospital · OMSingapore General Hospital · SG

Funding

Wellcome TrustWellcome Trust 098395/Z/12/ZWellcome Trust 105636/Z/14/Z
6 · The paper itself

Abstract

Young-onset autoimmune diabetes associated with additional autoimmunity usually reflects a polygenic predisposition, but rare cases result from monogenic autoimmunity. Diagnosing monogenic autoimmunity is crucial for patients' prognosis and clinical management. We sought to identify novel genetic causes of autoimmunity presenting with neonatal diabetes (NDM) (diagnosis <6 months). We performed exome sequencing in a patient with NDM and autoimmune lymphoproliferative syndrome and his unrelated, unaffected parents and identified compound heterozygous null mutations in

Indexed as

MutationAdaptor Proteins, Signal TransducingAutoimmunityChild, PreschoolConsanguinityDiabetes Mellitus, Type 1FemaleGenes, RecessiveGenetic Predisposition to DiseaseHumansInfantInfant, NewbornMalePedigreeAdaptor Proteins, Signal TransducingLRBA protein, human

Identifiers

PMID28473463
PMCPMC5524180
OpenAlexW2611661816

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.