Evidence map›Paper›PMID 40962492›Full record

ArticleJournal of medical genetics2025

Heterozygous

Wan Hua, Yanfei Wang, Xiang Li, Wenyu Xiong, Lanchen Wang, Meilin Chen, Fengxiao Bu, Libo Liu, Fangyi Chen, Mingjun Zhong and 4 more

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of medical genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
–field-weighted citation impact
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

2 citing papers in PubMed.

  1. Article
  2. 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

14 authors.

Wan Hua *Department of Otolaryngology Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Yanfei Wang *Department of Otolaryngology Head and Neck Surgery, Beijing Chao-Yang Hospital Capital Medical University, Beijing, China.
Xiang Li *Institute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China.ORCID http://orcid.org/0000-0002-0098-9133
Wenyu XiongInstitute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Lanchen WangInstitute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Meilin ChenInstitute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Fengxiao BuDepartment of Otolaryngology Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Libo LiuInstitute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Fangyi ChenDepartment of Biomedical Engineering, Southern University of Science and Technology, Shenzhen, Guangdong, China.
Mingjun ZhongInstitute of Rare Diseases, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Yu LuDepartment of Otolaryngology Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China.
Zhiyong LiuInstitute of Neuroscience, State Key Laboratory of Neuroscience, CAS Center for Excellence in Brain Science and Intelligence Technology, Chinese Academy of Sciences, Shanghai, China chengjing@wchscu.cn liuzhiyong@nibs.ac.cn yuanhj301@wchscu.cn.
Jing ChengDepartment of Otolaryngology Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China chengjing@wchscu.cn liuzhiyong@nibs.ac.cn yuanhj301@wchscu.cn.ORCID http://orcid.org/0009-0009-8746-0125
Huijun YuanDepartment of Otolaryngology Head and Neck Surgery, West China Hospital of Sichuan University, Chengdu, Sichuan, China chengjing@wchscu.cn liuzhiyong@nibs.ac.cn yuanhj301@wchscu.cn.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundA substantial fraction of hereditary hearing loss (HL) remains unexplained by known HL genes. Tbx2 is a developmental transcription factor critical for inner ear hair cell differentiation in mice, while its pathogenic role in genetic HL in humans has yet to be documented. Here, we identified heterozygous

methodsLinkage analysis combined with whole-genome sequencing (WGS) was applied to identify the causative gene in two unrelated Chinese families with autosomal dominant progressive sensorineural HL (SNHL) accompanied by incomplete penetrance nystagmus. Functional evaluation of

resultsLinkage analysis in Family 1 mapped SNHL to chr17q23.2 (maximum logarithm of odds=3.01), WGS identified two rare heterozygous

conclusionThese findings establish

Indexed as

Genetic ResearchGeneticsHuman Genetics

Identifiers

PMID40962492
PMCPMC12772546

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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.