Evidence map›Paper›PMID 41096790›Full record

ArticleInternational journal of molecular sciences2025

Evaluation of Serum FGF21 Levels in Patients with Mitochondrial Aminoacyl-tRNA Synthetase Deficiency.

Sebnem Tekin Neijmann, Dilek Gunes, Meryem Karaca, Volkan Karaman, Mehmet Cihan Balci, Gulden Fatma Gokcay, Asuman Gedikbasi

Abstract read
In one paragraph

Article in International journal of molecular sciences, 2025. 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. Review
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

7 authors.

Sebnem Tekin NeijmannDepartment of Interdisciplinary Rare Diseases, Institute of Health Sciences, Istanbul University, 34452 Istanbul, Turkey.ORCID 0000-0002-5422-5067
Dilek GunesDepartment of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey.
Meryem KaracaDepartment of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey.
Volkan KaramanDepartment of Medical Genetics, Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey.ORCID 0000-0001-8777-3548
Mehmet Cihan BalciDepartment of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey.ORCID 0000-0002-3384-8679
Gulden Fatma GokcayDepartment of Pediatrics, Division of Pediatric Nutrition and Metabolism, Istanbul Faculty of Medicine, Istanbul University, 34452 Istanbul, Turkey.ORCID 0000-0003-3726-5726
Asuman GedikbasiDepartment of Pediatric Basic Sciences, Institute of Child Health, Istanbul University, 34452 Istanbul, Turkey.ORCID 0000-0001-7121-6077

Funding

Istanbul University TSA-2024-40454
6 · The paper itself

Abstract

Fibroblast growth factor 21 (FGF21), a pleiotropic hormone, is a significant modulator of energy homeostasis. We evaluated serum FGF21 levels in patients with a deficiency of mitochondrial aminoacyl-tRNA synthetase (mt-aARSs). Six patients with mitochondrial aminoacyl tRNA synthetase deficiency and twelve healthy volunteers were included in this study. Whole-exome sequencing was used for molecular diagnosis. Serum FGF21 levels in the case group and healthy volunteers were analyzed using the enzyme-linked immunosorbent assay. Exome sequencing test revealed nine different pathogenic variants in the

Indexed as

Amino Acyl-tRNA SynthetasesFibroblast Growth FactorsMitochondriaMitochondrial DiseasesAdolescentAdultBiomarkersCase-Control StudiesChildExome SequencingFemaleHumansMaleMutationROC CurveYoung AdultAmino Acyl-tRNA SynthetasesBiomarkersFGF21 protein, humanFibroblast Growth FactorsAARS2DARS2EARS2FGF21mitochondrial aminoacyl tRNA synthetase deficiencymitochondrial diseaseSARS2WARS2

Identifiers

PMID41096790
PMCPMC12525200

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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.