Evidence map›Paper›PMID 37730861›Full record

ArticleActa diabetologica2024

An Italian MODY family with proband and son carrying variants in GCK and HFN1A: is it a true case of digenic MODY?

Daniela Lucchesi, Emioli Randazzo, Stefano Del Prato, Cristina Bianchi

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Article in Acta diabetologica, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Treatment Options for Patients with Maturity-Onset Diabetes of the Young (MODY): A Systematic Review of Literature: 2026 Update.Diabetes therapy : research, treatment and education of diabetes and related disorders · 2026
    Pooled it
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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

4 authors.

Daniela LucchesiSection of Diabetes and Metabolic Diseases, Department of Clinical and Experimental Medicine, University of Pisa and Azienda Ospedaliero-Universitaria Pisana, Pisa, Italy.
Emioli RandazzoUnit of Pediatric Endocrinolgy and Diabetes, Maternal and Child Department, Azienda Ospedaliero-Univeristaria Pisana, Pisa, Italy.
Stefano Del PratoSant'Anna School of Advanced Studies, Pisa, Italy.
Cristina BianchiSection of Diabetes and Metabolic Diseases, Department of Medical Specialties, Azienda Ospedaliero-Universitaria Pisana, Via Paradisa, 2, Pisa, Italy. c.bianchi@ao-pisa.toscana.it.ORCID http://orcid.org/0000-0003-2799-2380

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Maturity Onset Diabetes of the Young (MODY) is a monogenic autosomal dominant disorder affecting 1-5 % of all patients with diabetes mellitus. In Caucasians, GCK and HNF1A mutations are the most common cause of MODY. Here, we report two family members carrying a genetic variant of both GCK and HNF1A gene and their nine year clinical follow-up. Our report urges physicians to be cautious when variants in two genes are found in a single patient and suggests that collaboration with MODY genetics experts is necessary for correct diagnosis and treatment.

Indexed as

Diabetes Mellitus, Type 2Nuclear FamilyFamilyGerminal Center KinasesGlucokinaseHepatocyte Nuclear Factor 1-alphaHumansItalyMutationGerminal Center KinasesGlucokinaseHepatocyte Nuclear Factor 1-alphaHNF1A protein, humanMAP4K2 protein, humanDigenic variantsFollow-upGlucokinase (GCK) geneHepatocyte nuclear factor-1 alpha (HNF1A) geneMODY

Identifiers

PMID37730861

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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.