Evidence map›Paper›PMID 10364526›Full record

ArticleAmerican journal of human genetics1999

A gene for fluctuating, progressive autosomal dominant nonsyndromic hearing loss, DFNA16, maps to chromosome 2q23-24.3.

K Fukushima, N Kasai, Y Ueki, K Nishizaki, K Sugata, S Hirakawa, A Masuda, M Gunduz, Y Ninomiya, Y Masuda and 5 more

Open access · bronzeAbstract readCase Reports
In one paragraph

Article in American journal of human genetics, 1999. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
2.8field-weighted citation impact, top 8% 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

7 citing papers in PubMed, 42 citations in OpenAlex.

  1. Review
  2. Article
  3. Review
  4. Genetic Hearing Loss and Gene Therapy.Genomics & informatics · 2018
    Article
  5. Genetics of Tinnitus: Still in its Infancy.Frontiers in neuroscience · 2017
    Review
  6. Article
  7. 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

15 authors at 3 institutions in 2 countries.

K FukushimaDepartments of Otolaryngology and Biochemistry, Okayama University Medical School, Okayama, Japan.
N Kasai
Y Ueki
K Nishizaki
K Sugata
S Hirakawa
A Masuda
M Gunduz
Y Ninomiya
Y Masuda
M Sato
W T McGuirt
P Coucke
G Van Camp
R J Smith
Okayama University · JPUniversity of Iowa · USKeio University · JP

Funding

AUTOSOMAL DOMINANT NONSYNDROMIC HEARING LOSSR01DC003544 · NIDCD · UNIVERSITY OF IOWA · PI SMITH, RICHARD J.H. · 1998 to 2017
$7.8M
NIDCD NIH HHS R01DC03544
6 · The paper itself

Abstract

The sixteenth gene to cause autosomal dominant nonsyndromic hearing loss (ADNSHL), DFNA16, maps to chromosome 2q23-24.3 and is tightly linked to markers in the D2S2380-D2S335 interval. DFNA16 is unique in that it results in the only form of ADNSHL in which the phenotype includes rapidly progressing and fluctuating hearing loss that appears to respond to steroid therapy. This observation suggests that it may be possible to stabilize hearing through medical intervention, once the biophysiology of deafness due to DFNA16 is clarified. Especially intriguing is the localization of several voltage-gated sodium-channel genes to the DFNA16 interval. These cationic channels are excellent positional and functional DFNA16 candidate genes.

Indexed as

Chromosomes, Human, Pair 2AdolescentAudiometryChildFemaleGenes, DominantGenetic LinkageGenetic MarkersGenotypeHearing Loss, SensorineuralHumansLod ScoreMalePedigreeRadiographyTemporal BoneGenetic Markers

Identifiers

PMID10364526
PMCPMC1378084
OpenAlexW2072890467

What OpenQuestion holds

Textmetadata
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.