Evidence map›Paper›PMID 39706672›Full record

ArticleBMJ open diabetes research & care2024

A rare homozygous

Roel Tans, Tine Glendorf, Antonius E van Herwaarden, Hanka Venselaar, Danique M H van Rijswijck, Ron A Wevers, Jolein Gloerich, Alain van Gool, Cees J Tack

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PubMed Full text at PMC Publisher
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 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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

9 authors.

Roel TansTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands roeltans@outlook.com.ORCID 0009-0006-8792-9905
Tine GlendorfResearch and Development, Novo Nordisk A/S, Bagsvaerd, Hovedstaden, Denmark.
Antonius E van HerwaardenDepartment of Laboratory Medicine, Radboud University Medical Center, Nijmegen, Netherlands.
Hanka VenselaarDepartment of Medical BioSciences, Radboud University Medical Center, Nijmegen, Netherlands.
Danique M H van RijswijckTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Ron A WeversTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Jolein GloerichTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Alain van GoolTranslational Metabolic Laboratory, Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Cees J TackDepartment of Internal Medicine, Radboud University Medical Center, Nijmegen, Gelderland, Netherlands.ORCID 0000-0003-0322-1653

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

introductionMaturity-onset diabetes of the young (MODY) and neonatal diabetes mellitus (NDM) are the most prevalent causes of monogenic diabetes. MODY is an autosomal dominant condition with onset in childhood and young adulthood, while NDM is defined with diabetes onset within 6 months of age and can be caused by dominant, recessive, X-linked genes or by chromosomal abnormalities. Here, we describe a rare case of monogenic diabetes in a patient who is homozygous for an RESEARCH DESIGN AND

methodsThe index patient, a male diagnosed with type 2 diabetes, was treated with low-dose insulin and metformin. Blood plasma was collected under fasting conditions for analysis. MODY screening was performed using a next-generation sequencing panel. In silico analysis of the insulin variant's three-dimensional structure and its interaction with the insulin receptor was conducted. Insulin receptor affinity and downstream signaling potency were evaluated in vitro.

resultsAuto-immune diabetes was excluded. A homozygous missense variant of the

conclusionsThe homozygous c.130G>A variant in the

Indexed as

Diabetes Mellitus, Type 2HomozygoteInsulinAdultHumansMaleMutation, MissensePrognosisReceptor, InsulinInsulinReceptor, InsulinBiomarkersInsulin

Identifiers

PMID39706672
PMCPMC11667383

What Socratic holds

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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 Socratic graph.