Literature DB >> 24423691

Non-syndromic hereditary sensorineural hearing loss: review of the genes involved.

F Stelma1, M F Bhutta1.   

Abstract

BACKGROUND: Hereditary sensorineural hearing loss is the most frequently occurring birth defect. It has profound effects for the individual and is a substantial burden on society. Insight into disease mechanisms can help to broaden therapeutic options and considerably lower lifetime social costs. In the past few decades, the identification of genes that can cause this type of hearing loss has developed rapidly.
OBJECTIVE: This paper provides a concise overview of the currently known genes involved in non-syndromic hereditary hearing loss and their function in the inner ear.

Entities:  

Mesh:

Year:  2014        PMID: 24423691     DOI: 10.1017/S0022215113003265

Source DB:  PubMed          Journal:  J Laryngol Otol        ISSN: 0022-2151            Impact factor:   1.469


  14 in total

Review 1.  Genetic basis of hearing loss in Spanish, Hispanic and Latino populations.

Authors:  Rahul Mittal; Amit P Patel; Desiree Nguyen; Debbie R Pan; Vasanti M Jhaveri; Jason R Rudman; Arjuna Dharmaraja; Denise Yan; Yong Feng; Prem Chapagain; David J Lee; Susan H Blanton; Xue Zhong Liu
Journal:  Gene       Date:  2018-01-10       Impact factor: 3.688

2.  HOMER2, a stereociliary scaffolding protein, is essential for normal hearing in humans and mice.

Authors:  Hela Azaiez; Amanda R Decker; Kevin T Booth; Allen C Simpson; A Eliot Shearer; Patrick L M Huygen; Fengxiao Bu; Michael S Hildebrand; Paul T Ranum; Seiji B Shibata; Ann Turner; Yuzhou Zhang; William J Kimberling; Robert A Cornell; Richard J H Smith
Journal:  PLoS Genet       Date:  2015-03-27       Impact factor: 5.917

3.  Whole Exome Sequencing Identified MCM2 as a Novel Causative Gene for Autosomal Dominant Nonsyndromic Deafness in a Chinese Family.

Authors:  Juanjuan Gao; Qi Wang; Cheng Dong; Siqi Chen; Yu Qi; Yuhe Liu
Journal:  PLoS One       Date:  2015-07-21       Impact factor: 3.240

Review 4.  Genetics of Nonsyndromic Congenital Hearing Loss.

Authors:  Oguz Kadir Egilmez; M Tayyar Kalcioglu
Journal:  Scientifica (Cairo)       Date:  2016-02-18

5.  Development of the stria vascularis and potassium regulation in the human fetal cochlea: Insights into hereditary sensorineural hearing loss.

Authors:  Heiko Locher; John C M J de Groot; Liesbeth van Iperen; Margriet A Huisman; Johan H M Frijns; Susana M Chuva de Sousa Lopes
Journal:  Dev Neurobiol       Date:  2015-02-28       Impact factor: 3.964

6.  Over-expression of myosin7A in cochlear hair cells of circling mice.

Authors:  Yoo Yeon Kim; Hajin Nam; Harry Jung; Boyoung Kim; Jun Gyo Suh
Journal:  Lab Anim Res       Date:  2017-03-27

7.  Different Phenotypes of the Two Chinese Probands with the Same c.889G>A (p.C162Y) Mutation in COCH Gene Verify Different Mechanisms Underlying Autosomal Dominant Nonsyndromic Deafness 9.

Authors:  Qi Wang; Peipei Fei; Hongbo Gu; Yanmei Zhang; Xiaomei Ke; Yuhe Liu
Journal:  PLoS One       Date:  2017-01-18       Impact factor: 3.240

8.  Characterization of ATPase Activity of P2RX2 Cation Channel.

Authors:  Rahul Mittal; M'hamed Grati; Miloslav Sedlacek; Fenghua Yuan; Qing Chang; Denise Yan; Xi Lin; Bechara Kachar; Amjad Farooq; Prem Chapagain; Yanbin Zhang; Xue Z Liu
Journal:  Front Physiol       Date:  2016-05-24       Impact factor: 4.566

9.  Screening of the SLC17A8 gene as a causative factor for autosomal dominant non-syndromic hearing loss in Koreans.

Authors:  Nari Ryu; Borum Sagong; Hong-Joon Park; Min-A Kim; Kyu-Yup Lee; Jae Young Choi; Un-Kyung Kim
Journal:  BMC Med Genet       Date:  2016-01-22       Impact factor: 2.103

10.  Identification of two novel mutations in POU4F3 gene associated with autosomal dominant hearing loss in Chinese families.

Authors:  Xiaohui Bai; Fengguo Zhang; Yun Xiao; Yu Jin; Qingyin Zheng; Haibo Wang; Lei Xu
Journal:  J Cell Mol Med       Date:  2020-05-11       Impact factor: 5.310

View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.