Evidence map›Paper›PMID 23352258›Full record

ArticleAmerican journal of human genetics2013

Genetic basis of Y-linked hearing impairment.

Qiuju Wang, Yali Xue, Yujun Zhang, Quan Long, Asan, Fengtang Yang, Daniel J Turner, Tomas Fitzgerald, Bee Ling Ng, Yali Zhao and 13 more

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.

0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
2.0field-weighted citation impact, top 16% 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

15 citing papers in PubMed, 27 citations in OpenAlex.

  1. [Genetic counseling for hearing loss today].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2024
    Article
  2. Review
  3. [Genetics of pediatric hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2023
    Review
  4. Review
  5. [A review of diagnosis and treatment of syndromic hearing loss].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2021
    Review
  6. Article
  7. TBL1Y: a new gene involved in syndromic hearing loss.European journal of human genetics : EJHG · 2019
    Article
  8. A strategic research alliance: Turner syndrome and sex differences.American journal of medical genetics. Part C, Seminars in medical genetics · 2019
    Review
  9. Review
  10. Genetics of Tinnitus: Still in its Infancy.Frontiers in neuroscience · 2017
    Review
  11. Article
  12. Article
  13. Review
  14. Review
  15. Disease genetics: Y-linked duplication.Nature reviews. Genetics · 2013
    Article
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

23 authors at 4 institutions in 2 countries.

Qiuju WangDepartment of Otolaryngology, Head and Neck Surgery, Chinese PLA Institute of Otolaryngology, Chinese PLA General Hospital, Beijing, China.
Yali Xue
Yujun Zhang
Quan Long
Asan
Fengtang Yang
Daniel J Turner
Tomas Fitzgerald
Bee Ling Ng
Yali Zhao
Yuan Chen
Qingjie Liu
Weiyan Yang
Dongyi Han
Michael A Quail
Harold Swerdlow
John Burton
Ciara Fahey
Zemin Ning
Matthew E Hurles
Nigel P Carter
Huanming Yang
Chris Tyler-Smith
Wellcome Sanger Institute · GBChinese PLA General Hospital · CNBGI Group (China) · CNNational Institute for Radiological Protection · CN

Funding

Wellcome TrustWellcome Trust 098051
6 · The paper itself

Abstract

A single Mendelian trait has been mapped to the human Y chromosome: Y-linked hearing impairment. The molecular basis of this disorder is unknown. Here, we report the detailed characterization of the DFNY1 Y chromosome and its comparison with a closely related Y chromosome from an unaffected branch of the family. The DFNY1 chromosome carries a complex rearrangement, including duplication of several noncontiguous segments of the Y chromosome and insertion of ∼160 kb of DNA from chromosome 1, in the pericentric region of Yp. This segment of chromosome 1 is derived entirely from within a known hearing impairment locus, DFNA49. We suggest that a third copy of one or more genes from the shared segment of chromosome 1 might be responsible for the hearing-loss phenotype.

Indexed as

Chromosomes, Human, YFemaleGene RearrangementGenes, Y-LinkedHearing LossHumansMalePedigree

Identifiers

PMID23352258
PMCPMC3567277
OpenAlexW1971229326

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.