Children with <i>GJB2</i> gene mutations have various audiological phenotypes-Reference-Cited by-同舟云学术

Children with GJB2 gene mutations have various audiological phenotypes

Published:2018-08-31 Issue:4 Volume:12 Page:419-425
ISSN:1881-7815
Container-title:BioScience Trends
language:en
Short-container-title:BST

Author:

Wang Xianlei¹,Huang Lihui¹,Zhao Xuelei¹,Wang Xueyao¹,Cheng Xiaohua¹,Du Yating²,Liu Dongxin¹

Affiliation:

1. Beijing Tongren Hospital, Capital Medical University; Beijing Institute of Otolaryngology; Key Laboratory of Otolaryngology, Head and Neck Surgery, Ministry of Education

2. Department of Anesthesiology, Peking University First Hospital

Publisher

International Research and Cooperation Association for Bio & Socio-Sciences Advancement (IRCA-BSSA)

Subject

General Biochemistry, Genetics and Molecular Biology,General Medicine,Health(social science)

Link

https://www.jstage.jst.go.jp/article/bst/12/4/12_2018.01159/_pdf

Reference22 articles.

1. 1. Hilgert N, Smith RJH, Van Camp G. Function and expression pattern of nonsyndromic deafness genes. Curr Mol Med. 2009; 9:546-564.

2. 2. Kenneson A, Van NBK, Boyle C. GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: A HuGE review. Genet Med. 2002; 4:258-274.

3. 3. Lucotte G, Diéterlen F. The 35delG mutation in the connexin26 gene (GJB2) associated with congenital deafness: European carrier frequencies and evidence for its origin in ancient Greece. Genet Test. 2005; 9:20-25.

4. 4. Ji Y, Lan L, Wang D, Zhao Y, Wang Q. Meta-analysis of epidemiological studies in the Chinese NSHL population with the GJB2 mutation. Journal of Audiology and Speech Pathology. 2011; 19:323-327. (in Chinese)

5. 5. Li L, Lu J, Tao Z, Huang Q, Chai Y, Li X, Huang Z, Li Y, Xiang X, Yang J, Yao G, Wang Y, Yang T, Wu H. The p.V37I exclusive genotype of GJB2: A genetic risk indicator of postnatal permanent childhood hearing impairment. PLoS One. 2012; 7:e36621.

Cited by 8 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Audiological Phenotypes of Connexin Gene Mutation Patterns: A Glance at Different GJB2/GJB6 Gene Mutation Profiles;Children;2024-02-03

2. Analysis of Serum Inflammatory Markers in Infants Under 6 Months of Age with Non-Syndromic Moderate and Severe Hearing Loss Associated with GJB2 Gene Mutations;Medical Science Monitor;2022-12-09

3. GJB2 Is a Major Cause of Non-Syndromic Hearing Impairment in Senegal;Biology;2022-05-23

4. Connexin Mutations and Hereditary Diseases;International Journal of Molecular Sciences;2022-04-12

5. Hearing Phenotypes of Patients with Hearing Loss Homozygous for the GJB2 c.235delc Mutation;Neural Plasticity;2020-08-01