Evidence map›Paper›PMID 39062730›Full record

ArticleGenes2024

Novel Cases of Non-Syndromic Hearing Impairment Caused by Pathogenic Variants in Genes Encoding Mitochondrial Aminoacyl-tRNA Synthetases.

María Domínguez-Ruiz, Margarita Olarte, Esther Onecha, Irene García-Vaquero, Nancy Gelvez, Greizy López, Manuela Villamar, Matías Morín, Miguel A Moreno-Pelayo, Carmelo Morales-Angulo and 3 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 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. 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

13 authors.

María Domínguez-RuizServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0002-7583-0370
Margarita OlarteInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia.
Esther OnechaServicio de Genética, Hospital Universitario Marqués de Valdecilla, IDIVAL, 39008 Santander, Spain.
Irene García-VaqueroServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-3115-4910
Nancy GelvezInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia.
Greizy LópezInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia.
Manuela VillamarServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.
Matías MorínServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0002-7985-592X
Miguel A Moreno-PelayoServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-3839-5098
Carmelo Morales-AnguloServicio de Otorrinolaringología, Hospital Universitario Marqués de Valdecilla, IDIVAL, 39008 Santander, Spain.ORCID 0000-0002-4268-2762
Rubén PoloServicio de Otorrinolaringología, Hospital Universitario Ramón y Cajal, 28034 Madrid, Spain.
Martha L TamayoInstituto de Genética Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogotá 110231, Colombia.
Ignacio Del CastilloServicio de Genética, Hospital Universitario Ramón y Cajal, IRYCIS, 28034 Madrid, Spain.ORCID 0000-0003-1188-3665

Funding

Instituto de Salud Carlos III PI20/00619Pontificia Universidad Javeriana 00008286Regional Government of Madrid S2017/ BMD3721
6 · The paper itself

Abstract

Dysfunction of some mitochondrial aminoacyl-tRNA synthetases (encoded by the

Indexed as

Amino Acyl-tRNA SynthetasesAdolescentAdultChildChild, PreschoolDeafnessFemaleGenetic Association StudiesHearing LossHumansInfantLysine-tRNA LigaseMaleMitochondriaMitochondrial ProteinsMutationAmino Acyl-tRNA SynthetasesHARS2 protein, humanLARS2 protein, humanLysine-tRNA LigaseMitochondrial Proteinsaminoacyl-tRNA synthetasesDFNB89HARS2hearing lossKARS1LARS2mitochondriaPerrault syndrome

Identifiers

PMID39062730
PMCPMC11276111

What OpenQuestion holds

Textmetadata
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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.