Evidence map›Paper›PMID 27623246›Full record

ArticleScientific reports2016

Characterization of a knock-in mouse model of the homozygous p.V37I variant in Gjb2.

Ying Chen, Lingxiang Hu, Xueling Wang, Changling Sun, Xin Lin, Lei Li, Ling Mei, Zhiwu Huang, Tao Yang, Hao Wu

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

Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers, 2 of them syntheses that pooled it.

0numbers the graph read from it
0cells of the map it votes in
14citing papers in PubMed, 2 pooled it
1.8field-weighted citation impact, top 17% 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

14 citing papers in PubMed, 2 syntheses or guidelines pooled it, 24 citations in OpenAlex.

  1. Pooled it
  2. Pooled it
  3. Genotype-guided Recall Delineates the Adult Auditory Phenotype in GJB2 p.V37I Homozygotes: High-frequency Vulnerability and Environmental Modulation.Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology · 2026
    Article
  4. Review
  5. Review
  6. Mutation Spectrum ofInternational journal of molecular sciences · 2025
    Article
  7. Article
  8. Article
  9. Connexin Mutations and Hereditary Diseases.International journal of molecular sciences · 2022
    Review
  10. Review
  11. Article
  12. Article
  13. Article
  14. 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

10 authors at 3 institutions in 1 country.

Ying ChenDepartment of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Lingxiang HuEar Institute, Shanghai Jiaotong University, Shanghai, China.
Xueling WangEar Institute, Shanghai Jiaotong University, Shanghai, China.
Changling SunEar Institute, Shanghai Jiaotong University, Shanghai, China.
Xin LinEar Institute, Shanghai Jiaotong University, Shanghai, China.
Lei LiEar Institute, Shanghai Jiaotong University, Shanghai, China.
Ling MeiEar Institute, Shanghai Jiaotong University, Shanghai, China.
Zhiwu HuangEar Institute, Shanghai Jiaotong University, Shanghai, China.
Tao YangEar Institute, Shanghai Jiaotong University, Shanghai, China.
Hao WuDepartment of Otorhinolaryngology-Head and Neck Surgery, Shanghai Ninth People's Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China.
Shanghai Jiao Tong University · CNXinHua Hospital · CNShanghai Ninth People's Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The homozygous p.V37I variant in GJB2 is prevalent in East and Southeast Asians and may lead to mild-to-moderate hearing loss with reduced penetrance. To investigate the pathogenic mechanism underlying this variant, we generated a knock-in mouse model of homozygous p.V37I by an embryonic stem cell gene targeting method. Auditory brainstem response test showed that the knock-in mice developed progressive, mild-to-moderate hearing loss over the first 4-9 months. Overall no significant developmental and morphological abnormality was observed in the knock-in mouse cochlea, while confocal immunostaining and electron microscopic scanning revealed minor loss of the outer hair cells. Gene expression microarray analysis identified 105 up-regulated and 43 down-regulated genes in P5 knock-in mouse cochleae (P < 0.05 adjusted by the Benjamini &Hochberg method), among which four top candidate genes with the highest fold-changes or implication to deafness Fcer1g, Nnmt and Lars2 and Cuedc1 were verified by quantitative real-time PCR. Our study demonstrated that the homozygous p.V37I knock-in mouse modeled the hearing phenotype of the human patients and can serve as a useful animal model for further studies. The differentially expressed genes identified in this study may shed new insights into the understanding of the pathogenic mechanism and the phenotypic modification of homozygous p.V37I.

Indexed as

Amino Acyl-tRNA SynthetasesAnimalsAsian PeopleCochleaConnexin 26ConnexinsEmbryonic Stem CellsGene Expression RegulationGene Knock-In TechniquesHearing LossHearing TestsHumansMiceMicroarray AnalysisMutationNicotinamide N-MethyltransferaseAmino Acyl-tRNA SynthetasesConnexin 26ConnexinsCUEDC2 protein, mouseFCER1G, humanGJB2 protein, humanGjb2 protein, mouseLARS2 protein, humanNicotinamide N-MethyltransferaseNnmt protein, mouseReceptors, FcRepressor Proteins

Identifiers

PMID27623246
PMCPMC5020688
OpenAlexW2520761858

What OpenQuestion holds

Textmetadata
LicenceCC BY
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.