Evidence map›Paper›PMID 29355479›Full record

ArticleeLife2018

Mutations in L-type amino acid transporter-2 support

Meritxell Espino Guarch, Mariona Font-Llitjós, Silvia Murillo-Cuesta, Ekaitz Errasti-Murugarren, Adelaida M Celaya, Giorgia Girotto, Dragana Vuckovic, Massimo Mezzavilla, Clara Vilches, Susanna Bodoy and 9 more

Open access · goldAbstract read
In one paragraph

Article in eLife, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.

0numbers the graph read from it
0cells of the map it votes in
36citing papers in PubMed
3.9field-weighted citation impact, top 7% of its field
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

36 citing papers in PubMed, 49 citations in OpenAlex.

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  15. Biology · 2022
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  18. Structural basis for substrate specificity of heteromeric transporters of neutral amino acids.Proceedings of the National Academy of Sciences of the United States of America · 2021
    Article
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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

19 authors at 5 institutions in 4 countries.

Meritxell Espino Guarch *Experimental Genetics, Sidra Medical and Research Center, Doha, Qatar.ORCID https://orcid.org/0000-0002-7211-3229
Mariona Font-Llitjós *Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.
Silvia Murillo-CuestaBiomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Barcelona, Spain.ORCID http://orcid.org/0000-0002-8706-4327
Ekaitz Errasti-MurugarrenInstitute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Adelaida M CelayaBiomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Barcelona, Spain.
Giorgia GirottoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Dragana VuckovicDepartment of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Massimo MezzavillaExperimental Genetics, Sidra Medical and Research Center, Doha, Qatar.
Clara VilchesGenes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.
Susanna BodoyInstitute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Ignasi SahúnBiomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Barcelona, Spain.
Laura GonzálezGenes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.
Esther PratGenes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.
Antonio ZorzanoInstitute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Mara DierssenBiomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Barcelona, Spain.ORCID http://orcid.org/0000-0003-0853-6865
Isabel Varela-Nieto *Biomedical Research Networking Centre on Rare Diseases (CIBERER), Institute of Health Carlos III, Barcelona, Spain.
Paolo Gasparini *Department of Medicine, Surgery and Health Sciences, University of Trieste, Trieste, Italy.
Manuel Palacín *Institute for Research in Biomedicine (IRB Barcelona), The Barcelona Institute of Science and Technology, Barcelona, Spain.
Virginia Nunes *Genes, Disease and Therapy Program, Molecular Genetics Laboratory - IDIBELL, Barcelona, Spain.ORCID http://orcid.org/0000-0002-5747-9310
Instituto de Salud Carlos III · ESUniversity of Trieste · ITInstitut d'Investigació Biomédica de Bellvitge · ESCentro de Investigación Biomédica en Red Diabetes y Enfermedades Metabólicas Asociadas · ESSidra Medical and Research Center · QA

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Age-related hearing loss (ARHL) is the most common sensory deficit in the elderly. The disease has a multifactorial etiology with both environmental and genetic factors involved being largely unknown. SLC7A8/SLC3A2 heterodimer is a neutral amino acid exchanger. Here, we demonstrated that SLC7A8 is expressed in the mouse inner ear and that its ablation resulted in ARHL, due to the damage of different cochlear structures. These findings make SLC7A8 transporter a strong candidate for ARHL in humans. Thus, a screening of a cohort of ARHL patients and controls was carried out revealing several variants in

Indexed as

MutationAmino Acid Transport System y+AnimalsFusion Regulatory Protein 1, Light ChainsGene DeletionGenetic TestingHumansMicePresbycusisAmino Acid Transport System y+Fusion Regulatory Protein 1, Light ChainsSLC7A8 protein, humanSLC7A8 protein, mouseage-related hearing lossauditory brainstem responsechromosomesgeneshearing losshumanhuman biologyknock-out mouse modelLAT2medicinemouseSlc7a8

Identifiers

PMID29355479
PMCPMC5811215
OpenAlexW2784637262

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.