Evidence map›Paper›PMID 21803452›Full record

ArticleNeurobiology of aging2012

Association of a citrate synthase missense mutation with age-related hearing loss in A/J mice.

Kenneth R Johnson, Leona H Gagnon, Chantal Longo-Guess, Kelly L Kane

Open access · greenAbstract read
In one paragraph

Article in Neurobiology of aging, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed, 1 pooled it
0.7field-weighted citation impact, top 31% 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

19 citing papers in PubMed, 1 synthesis or guideline pooled it, 51 citations in OpenAlex.

  1. 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
  2. Article
  3. Article
  4. Article
  5. Article
  6. Article
  7. Molecular Evidence thatInternational journal of molecular sciences · 2020
    Article
  8. Age-Related Hearing Loss.Cold Spring Harbor perspectives in medicine · 2019
    Review
  9. Article
  10. IGF-1 protects SH-SY5Y cells against MPPEndocrine connections · 2018
    Article
  11. Hearing Improvement in A/J Mice via the Mouse Nerve Growth Factor.Clinical and experimental otorhinolaryngology · 2017
    Article
  12. Article
  13. Article
  14. Review
  15. Article
  16. A QTL on Chr 5 modifies hearing loss associated with the fascin-2 variant of DBA/2J mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2015
    Article
  17. New treatment options for hearing loss.Nature reviews. Drug discovery · 2015
    Review
  18. Vestibular dysfunction, altered macular structure and trait localization in A/J inbred mice.Mammalian genome : official journal of the International Mammalian Genome Society · 2015
    Article
  19. 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

4 authors at 1 institution in 1 country.

Kenneth R JohnsonThe Jackson Laboratory, Bar Harbor, ME04609, USA. ken.johnson@jax.org
Leona H Gagnon
Chantal Longo-Guess
Kelly L Kane
Jackson Laboratory · US

Funding

Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9M
Genetics of Age-Related Hearing LossR01DC005827 · NIDCD · JACKSON LABORATORY · PI JOHNSON, KENNETH R · 2003 to 2016
$4.6M
NCI NIH HHS CA34196NCI NIH HHS P30 CA034196NIDCD NIH HHS DC005827NIDCD NIH HHS R01 DC005827
6 · The paper itself

Abstract

We previously mapped a locus (ahl4) on distal Chromosome 10 that contributes to the age-related hearing loss of A/J strain mice. Here, we report on a refined genetic map position for ahl4 and its association with a mutation in the citrate synthase gene (Cs). We mapped ahl4 to the distal-most 7 megabases (Mb) of chromosome 10 by analysis of a new linkage backcross and then further narrowed the interval to 5.5 Mb by analysis of 8 C57BL/6J congenic lines with different A/J-derived segments of chromosome 10. A nucleotide variant in exon 3 of Cs is the only known DNA difference within the ahl4 candidate gene interval that is unique to the A/J strain and that causes a nonsynonymous codon change. Multiple lines of evidence implicate this missense mutation (H55N) as the underlying cause of ahl4-related hearing loss, likely through its effects on mitochondrial adenosine trisphosphate (ATP) and free radical production in cochlear hair cells. The A/J mouse thus provides a new model system for in vivo studies of mitochondrial function and hearing loss.

Indexed as

AgingAnimalsCitrate (si)-SynthaseGenetic Association StudiesGenetic LinkageHearing LossMiceMutation, MissensePolymorphism, Single NucleotideCitrate (si)-Synthase

Identifiers

PMID21803452
PMCPMC3206989
OpenAlexW2071352127

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.