Evidence map›Paper›PMID 21326233›Full record

ArticleNature communications2011

Gipc3 mutations associated with audiogenic seizures and sensorineural hearing loss in mouse and human.

Nikoletta Charizopoulou, Andrea Lelli, Margit Schraders, Kausik Ray, Michael S Hildebrand, Arabandi Ramesh, C R Srikumari Srisailapathy, Jaap Oostrik, Ronald J C Admiraal, Harold R Neely and 6 more

Open access · bronzeAbstract readComparative Study
In one paragraph

Article in Nature communications, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 62 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
62citing papers in PubMed, 2 pooled it
5.5field-weighted citation impact, top 3% 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

62 citing papers in PubMed, 2 syntheses or guidelines pooled it, 119 citations in OpenAlex.

  1. A Systematic Review of Genes Affecting Endocochlear Potential.Journal of the Association for Research in Otolaryngology : JARO · 2026
    Pooled it
  2. Genome-wide association study for age-related hearing loss (AHL) in the mouse: a meta-analysis.Journal of the Association for Research in Otolaryngology : JARO · 2014
    Pooled it
  3. [An interpretation of the blue book: the report on hearing health in china (2025)].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2026
    Article
  4. Article
  5. Hearing Loss and Audiogenic Seizures Induced by Hypofunctional Prestin Variants.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2025
    Article
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  15. ARNSHL gene identification: past, present and future.Molecular genetics and genomics : MGG · 2022
    Review
  16. Review
  17. Article
  18. Article
  19. Review
  20. A review of the mechanisms underlying the role of theFrontiers in synaptic neuroscience · 2022
    Review

2 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

16 authors at 7 institutions in 3 countries.

Nikoletta CharizopoulouSection on Neurogenetics, Laboratory of Molecular Biology, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, Rockville, Maryland 20850, USA.
Andrea Lelli
Margit Schraders
Kausik Ray
Michael S Hildebrand
Arabandi Ramesh
C R Srikumari Srisailapathy
Jaap Oostrik
Ronald J C Admiraal
Harold R Neely
Joseph R Latoche
Richard J H Smith
John K Northup
Hannie Kremer
Jeffrey R Holt
Konrad Noben-Trauth
National Institutes of Health · USNational Institute on Deafness and Other Communication Disorders · USRadboud University Medical Center · NLRadboud University Nijmegen · NLUniversity of Iowa · USUniversity of Madras · INUniversity of Virginia · US

Funding

NONSYNDROMIC HEARING LOSS--A COLLABORATIVE STUDYR01DC002842 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1996 to 2024
$12.7M
Ion Channel Function in Auditory & Vestibular Hair CellsR01DC005439 · NIDCD · UNIVERSITY OF VIRGINIA CHARLOTTESVILLE · PI HOLT, JEFFREY R · 2001 to 2019
$5.5M
Functional And Genetic Analyses Of Mouse Deafness MutantsZIADC000056 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI NOBEN-TRAUTH, KONRAD · 2009 to 2011
$2.4M
Family 3 G-protein-coupled receptor signaling mechanismsZIADC000068 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI NORTHUP, JOHN K · 2009 to 2012
$2.4M
Ion Channel Function in Auditory & Vestibular Hair CellsR56DC005439 · NIDCD · UNIVERSITY OF VIRGINIA · PI HOLT, JEFFREY R · 2008 to 2008
$379k
NIDCD NIH HHS DC002842NIDCD NIH HHS DC05439NIDCD NIH HHS R01 DC002842NIDCD NIH HHS R01 DC005439NIDCD NIH HHS R56 DC005439
6 · The paper itself

Abstract

Sensorineural hearing loss affects the quality of life and communication of millions of people, but the underlying molecular mechanisms remain elusive. Here, we identify mutations in Gipc3 underlying progressive sensorineural hearing loss (age-related hearing loss 5, ahl5) and audiogenic seizures (juvenile audiogenic monogenic seizure 1, jams1) in mice and autosomal recessive deafness DFNB15 and DFNB95 in humans. Gipc3 localizes to inner ear sensory hair cells and spiral ganglion. A missense mutation in the PDZ domain has an attenuating effect on mechanotransduction and the acquisition of mature inner hair cell potassium currents. Magnitude and temporal progression of wave I amplitude of afferent neurons correlate with susceptibility and resistance to audiogenic seizures. The Gipc3(343A) allele disrupts the structure of the stereocilia bundle and affects long-term function of auditory hair cells and spiral ganglion neurons. Our study suggests a pivotal role of Gipc3 in acoustic signal acquisition and propagation in cochlear hair cells.

Indexed as

Acoustic StimulationAdaptor Proteins, Signal TransducingAnalysis of VarianceAnimalsCarrier ProteinsCrosses, GeneticDNA Mutational AnalysisGenetic Predisposition to DiseaseHair Cells, AuditoryHearing Loss, SensorineuralHearing TestsHumansImmunoblottingImmunohistochemistryMechanotransduction, CellularMiceAdaptor Proteins, Signal TransducingCarrier ProteinsGIPC3 protein, human

Identifiers

PMID21326233
PMCPMC3105340
OpenAlexW2009018206

What OpenQuestion holds

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LicenceCC BY-NC-ND
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.