Evidence map›Paper›PMID 31322239›Full record

ArticleMolecular medicine reports2019

Identification of novel cadherin 23 variants in a Chinese family with hearing loss.

Tianni Xu, Wei Zhu, Ping Wang, Haonan Li, Shuyuan Yu

Open access · hybridAbstract readCase Reports
In one paragraph

Article in Molecular medicine reports, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.4field-weighted citation impact, top 44% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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

5 authors at 1 institution in 1 country.

Tianni XuDepartment of Otolaryngology‑Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Wei ZhuDepartment of Otolaryngology‑Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Ping WangDepartment of Otolaryngology‑Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Haonan LiDepartment of Otolaryngology‑Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
Shuyuan YuDepartment of Otolaryngology‑Head and Neck Surgery, The First Hospital of Jilin University, Changchun, Jilin 130021, P.R. China.
First Hospital of Jilin University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The aim of the present study was to elucidate the role of the non‑syndromic autosomal recessive deafness 12 allelic variant of cadherin 23 (CDH23) in Chinese patients with non‑syndromic hearing loss. The present study focused on a Chinese family with hearing loss in which there were two siblings with autosomal, recessive deafness, ranging from severe to profound hearing loss over all frequencies. DNA sequencing was used to assess the genetic factors in the disease etiology. The data revealed a compound heterozygous mutation of CDH23 in both patients. Genetic CDH23 variants are known to be responsible for non‑syndromic hearing loss, and CDH23 variants frequently occur in various populations, including Japanese and Republic of Korean. Results from the present study, indicated a significant contribution of CDH23 variants to the non‑syndromic hearing loss in Chinese patients.

Indexed as

AdolescentAmino Acid SequenceAsian PeopleCadherin Related ProteinsCadherinsFemaleHearing LossHearing Loss, SensorineuralHeterozygoteHumansMaleModels, MolecularMutationPedigreeSequence AlignmentSiblingsCadherin Related ProteinsCadherinsCDH23 protein, human

Identifiers

PMID31322239
PMCPMC6691240
OpenAlexW2962477496

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.