Evidence map›Paper›PMID 34356059›Full record

ArticleGenes2021

Non-Syndromic Autosomal Dominant Hearing Loss: The First Italian Family Carrying a Mutation in the

Paola Tesolin, Anna Morgan, Michela Notarangelo, Rocco Pio Ortore, Maria Pina Concas, Angelantonio Notarangelo, Giorgia Girotto

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.6field-weighted citation impact, top 41% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. A NovelLife (Basel, Switzerland) · 2023
    Article
  3. Review
  4. 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

7 authors at 4 institutions in 1 country.

Paola TesolinDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0002-5238-6422
Anna MorganInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0001-6290-445X
Michela NotarangeloDepartment of Cellular, Computational and Integrative Biology (CIBIO), University of Trento, 38123 Trento, Italy.
Rocco Pio OrtoreUOC Otolaryngology, Institute I.R.C.C.S. "Casa Sollievo della Sofferenza", 71013 San Giovanni Rotondo, Italy.
Maria Pina ConcasInstitute for Maternal and Child Health-I.R.C.C.S. "Burlo Garofolo", 34137 Trieste, Italy.ORCID 0000-0003-3598-2537
Angelantonio NotarangeloUOC Medical Genetics, Institute I.R.C.C.S. "Casa Sollievo della Sofferenza", 71013 San Giovanni Rotondo, Italy.
Giorgia GirottoDepartment of Medicine, Surgery and Health Sciences, University of Trieste, 34127 Trieste, Italy.ORCID 0000-0003-4507-6589
Casa Sollievo della Sofferenza · ITIRCCS Materno Infantile Burlo Garofolo · ITUniversity of Trieste · ITUniversity of Trento · IT

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Hearing loss (HL) is the most frequent sensory disorder, affecting about 1-3 per 1000 live births, with more than half of the cases attributable to genetic causes. Despite the fact that many HL causative genes have already been identified, current genetic tests fail to provide a diagnosis for about 40% of the patients, suggesting that other causes still need to be discovered. Here, we describe a four-generation Italian family affected by autosomal dominant non-syndromic hearing loss (ADNSHL), in which exome sequencing revealed a likely pathogenic variant in

Indexed as

Genetic Predisposition to DiseaseHearing LossMutationNuclear Receptor Coactivator 3BrazilFemaleGenes, DominantGenotypeHearing Loss, SensorineuralHigh-Throughput Nucleotide SequencingHumansItalyMalePedigreePhenotypeNCOA3 protein, humanNuclear Receptor Coactivator 3autosomal dominant inheritanceexome sequencingItalian familyNCOA3 genenon-syndromic hearing loss

Identifiers

PMID34356059
PMCPMC8304864
OpenAlexW3180770625

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.