Evidence map›Paper›PMID 19601806›Full record

ReviewCurrent molecular medicine2009

Function and expression pattern of nonsyndromic deafness genes.

Nele Hilgert, Richard J H Smith, Guy Van Camp

Open access · greenAbstract readReview
In one paragraph

Review in Current molecular medicine, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 82 papers, 3 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
82citing papers in PubMed, 3 pooled it
4.8field-weighted citation impact, top 4% 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

82 citing papers in PubMed, 3 syntheses or guidelines pooled it, 160 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. The p.P240L variant of CDH23 and the risk of nonsyndromic hearing loss: a meta-analysis.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 · 2019
    Pooled it
  4. Article
  5. Review
  6. Article
  7. Review
  8. [Mutation spectrum analysis of 23-site chip neonatal deafness genetic screening].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
    Article
  9. The genome of the black-footed cat: Revealing a rich natural history and urgent conservation priorities for small felids.Proceedings of the National Academy of Sciences of the United States of America · 2024
    Article
  10. Novel Variant inCells · 2023
    Article
  11. Review
  12. Advances in gene therapy hold promise for treating hereditary hearing loss.Molecular therapy : the journal of the American Society of Gene Therapy · 2023
    Review
  13. Article
  14. Article
  15. Review
  16. Article
  17. Article
  18. Article
  19. Article
  20. Article

22 more citing papers are in PubMed but not listed here.

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

3 authors at 1 institution in 1 country.

Nele HilgertDepartment of Medical Genetics, University of Antwerp (UA), Belgium.
Richard J H Smith
Guy Van Camp
University of Antwerp · BE

Funding

NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7M
AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSSR01DC003544 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1998 to 2017
$7.8M
NIDCD NIH HHS DC02842NIDCD NIH HHS DC03544NIDCD NIH HHS R01 DC002842NIDCD NIH HHS R01 DC003544
6 · The paper itself

Abstract

Hearing loss is the most common sensory disorder, present in 1 of every 500 newborns. To date, 46 genes have been identified that cause nonsyndromic hearing loss, making it an extremely heterogeneous trait. This review provides a comprehensive overview of the inner ear function and expression pattern of these genes. In general, they are involved in hair bundle morphogenesis, form constituents of the extracellular matrix, play a role in cochlear ion homeostasis or serve as transcription factors. During the past few years, our knowledge of genes involved in hair bundle morphogenesis has increased substantially. We give an up-to-date overview of both the nonsyndromic and Usher syndrome genes involved in this process, highlighting proteins that interact to form macromolecular complexes. For every gene, we also summarize its expression pattern and impact on hearing at the functional level. Gene-specific cochlear expression is summarized in a unique table by structure/cell type and is illustrated on a cochlear cross-section, which is available online via the Hereditary Hearing Loss Homepage. This review should provide auditory scientists the most relevant information for all identified nonsyndromic deafness genes.

Indexed as

Gene Expression ProfilingCochleaDeafnessGenetic Predisposition to DiseaseHearing LossHumansMitochondrial ProteinsMutationMitochondrial Proteins

Identifiers

PMID19601806
PMCPMC2840995
OpenAlexW2101777268

What OpenQuestion holds

Textmetadata
LicenceTDM
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.