Evidence map›Paper›PMID 39542526›Full record

ArticleBMJ open diabetes research & care2024

Widening the phenotypic spectrum caused by pathogenic

Nicola Jeffery, Omar Al Nimri, Jayne A L Houghton, Evgenia Globa, Matthew N Wakeling, Sarah E Flanagan, Andrew T Hattersley, Kashyap Amratlal Patel, Elisa De Franco, PDX1-NDM consortium

Abstract read
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In one paragraph

Article in BMJ open diabetes research & care, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

10 authors.

Nicola JefferyDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Omar Al NimriDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Jayne A L HoughtonExeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK.
Evgenia GlobaDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Matthew N WakelingDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Sarah E FlanaganDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.
Andrew T HattersleyDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.ORCID 0000-0001-5620-473X
Kashyap Amratlal PatelDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK.ORCID 0000-0002-9240-8104
Elisa De FrancoDepartment of Clinical and Biomedical Sciences, University of Exeter Faculty of Health and Life Sciences, Exeter, UK e.de-franco@exeter.ac.uk.ORCID 0000-0002-1437-7891
PDX1-NDM consortium

Funding

Wellcome Trust
6 · The paper itself

Abstract

introductionBiallelic RESEARCH DESIGN AND

methodsTo determine the phenotypic variability caused by this rare genetic aetiology, we investigated 19 individuals with NDM resulting from biallelic disease-causing

resultsOf the 19 individuals, 8 (42%) were confirmed to have exocrine insufficiency requiring replacement therapy. Twelve individuals (63.2%) had extrapancreatic features, including 8 (42%) with conditions affecting the duodenum and/or hepatobiliary tract. Defects in duodenum development are consistent with previous

conclusionsOur findings show that recessive

Indexed as

Diabetes MellitusHomeodomain ProteinsPancreasPhenotypeTrans-ActivatorsFemaleHumansInfantInfant, NewbornMaleMutationPancreatic DiseasesPrognosisHomeodomain Proteinspancreatic and duodenal homeobox 1 proteinTrans-ActivatorsGenetics

Identifiers

PMID39542526
PMCPMC11575358

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Registered trials

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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.