Evidence map›Paper›PMID 21825995›Full record

ReviewCurrent opinion in otolaryngology & head and neck surgery2011

Genetic disorders of the vestibular system.

Robert W Eppsteiner, Richard J H Smith

Abstract readReview
In one paragraph

Review in Current opinion in otolaryngology & head and neck surgery, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.

0numbers the graph read from it
0cells of the map it votes in
20citing 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

20 citing papers in PubMed.

  1. Review
  2. Article
  3. Article
  4. Large-Scale Gravitaxis Assay of Caenorhabditis Dauer Larvae.Journal of visualized experiments : JoVE · 2022
    Article
  5. Review
  6. Article
  7. Article
  8. Article
  9. Review
  10. Article
  11. Article
  12. Article
  13. Genes important for otoneurological diagnostic purposes - current status and future prospects.Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale · 2018
    Review
  14. Gene Therapy Restores Balance and Auditory Functions in a Mouse Model of Usher Syndrome.Molecular therapy : the journal of the American Society of Gene Therapy · 2017
    Article
  15. Application of Mouse Models to Research in Hearing and Balance.Journal of the Association for Research in Otolaryngology : JARO · 2016
    Review
  16. Article
  17. Article
  18. Article
  19. The genetics of Ménière's disease.The application of clinical genetics · 2015
    Review
  20. 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

2 authors.

Robert W EppsteinerDepartment of Otolaryngology - Head and Neck Surgery, University of Iowa Hospitals and Clinics, Iowa City, Iowa 52242, USA.
Richard J H Smith

Funding

NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7M
Research Training Program in OtolaryngologyT32DC000040 · NIDCD · UNIVERSITY OF IOWA · PI HANSEN, MARLAN R · 1993 to 2025
$5.4M
NIDCD NIH HHS DC002842NIDCD NIH HHS R01 DC002842NIDCD NIH HHS T32 DC000040
6 · The paper itself

Abstract

purpose of reviewThis review highlights the current body of literature related to the genetics of inherited vestibular disorders and provides a framework for the characterization of these disorders. We emphasize peripheral causes of vestibular dysfunction and highlight recent advances in the field, point out gaps in understanding, and focus on key areas for future investigation. RECENT

findingsThe discovery of a modifier gene that leads to a more severe Usher syndrome phenotype calls into question the assumption that Usher syndrome is universally a monogenic disorder. Despite the use of several investigational approaches, the genetic basis of Menière's disease remains poorly understood. Evidence for a vestibular phenotype associated with DFNB1 suggests that mutations in other genes causally related to nonsyndromic hearing loss also may have an unrecognized vestibular phenotype. SUMMARY: Our understanding of the genetic basis for vestibular disorders is superficial. Significant challenges include defining the genetics of inherited isolated vestibular dysfunction and understanding the pathological basis of Menière's disease. However, improved characterization of inherited vestibular dysfunction, coupled with advanced genetic techniques such as targeted genome capture and massively parallel sequencing, provides an opportunity to investigate these diseases at the genetic level.

Indexed as

Connexin 26ConnexinsGenes, ModifierGenetic LinkageGenetic Predisposition to DiseaseGenetic TestingGenetic VariationGenotypeHumansMeniere DiseaseMutationPhenotypePolymorphism, GeneticUsher SyndromesConnexin 26ConnexinsGJB2 protein, human

Identifiers

PMID21825995
PMCPMC4345041

What OpenQuestion holds

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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.