Evidence map›Paper›PMID 38254912›Full record

ArticleGenes2023

Rare Deletions or Large Duplications Contribute to Genetic Variation in Patients with Severe Tinnitus and Meniere Disease.

Alba Escalera-Balsera, Alberto M Parra-Perez, Alvaro Gallego-Martinez, Lidia Frejo, Juan Martin-Lagos, Victoria Rivero de Jesus, Paz Pérez-Vázquez, Patricia Perez-Carpena, Jose A Lopez-Escamez

Open access · goldAbstract read
In one paragraph

Article in Genes, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.6field-weighted citation impact, top 34% 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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Phenotypic spectrum of tinnitus patients bearing rare ANK2 gene variants.European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery · 2024
    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 at 4 institutions in 2 countries.

Alba Escalera-BalseraOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.ORCID 0000-0003-1027-8594
Alberto M Parra-PerezOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.ORCID 0000-0003-1208-8348
Alvaro Gallego-MartinezOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.ORCID 0000-0002-6068-8965
Lidia FrejoOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.
Juan Martin-LagosOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.
Victoria Rivero de JesusDepartment of Otorhinolaryngology, Hospital Clínic, 08036 Barcelona, Spain.
Paz Pérez-VázquezServicio de Otorrinolaringología, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.
Patricia Perez-CarpenaOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.ORCID 0000-0003-2722-4947
Jose A Lopez-EscamezOtology & Neurotology Group CTS495, Instituto de Investigación Biosanitaria, ibs.GRANADA, Universidad de Granada, 18071 Granada, Spain.ORCID 0000-0002-8583-1430
Universidad de Granada · ESThe University of Sydney · AUHospital Clínic de Barcelona · ESHospital Universitario Central de Asturias · ES

Funding

European Union 848261Instituto de Salud Carlos III CD20/00153Regional Government of Andalusia DOC_01677Regional Government of Andalusia PREDOC2021/00343Regional Government of Andalusia RH-0150-2020University of Sydney K7013_B3413
6 · The paper itself

Abstract

Meniere disease (MD) is a debilitating disorder of the inner ear defined by sensorineural hearing loss (SNHL) associated with episodes of vertigo and tinnitus. Severe tinnitus, which occurs in around 1% of patients, is a multiallelic disorder associated with a burden of rare missense single nucleotide variants in synaptic genes. Rare structural variants (SVs) may also contribute to MD and severe tinnitus. In this study, we analyzed exome sequencing data from 310 MD Spanish patients and selected 75 patients with severe tinnitus based on a Tinnitus Handicap Inventory (THI) score > 68. Three rare deletions were identified in two unrelated individuals overlapping the

Indexed as

Ear, InnerMeniere DiseaseTATA-Binding Protein Associated FactorsTinnitusAdaptor Proteins, Signal TransducingCOP9 Signalosome ComplexGenes, RegulatorGenetic VariationHumansAdaptor Proteins, Signal TransducingCOP9 Signalosome ComplexCOPS6 protein, humanTAF6 protein, humanTATA-Binding Protein Associated FactorsbioinformaticsgenomicsMeniere diseasestructural varianttinnitus

Identifiers

PMID38254912
PMCPMC10815708
OpenAlexW4390174735

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.