Literature DB >> 12015283

Genetics, genomics and gene discovery in the auditory system.

Cynthia C Morton1.   

Abstract

The sounds of silence have forever been broken as genetics and genomics approaches in human and model organisms have provided a powerful and rapid entry into gene discovery in the auditory system. An understanding of the complexities and beauty of the biological process of hearing itself is unfolding as genes underlying hereditary hearing impairment are identified. Genes involved in modifying hearing are also being found, and will be critical to a full comprehension of genotype-phenotype relationships. Investigations in the auditory system will provide important insight into how the nervous system decodes molecular information. Deafness represents a common sensory disorder that can interfere dramatically in the acquisition of speech and language in children, and in the quality of life for a growing aged population. As newborn screening for hearing impairment is being implemented in many birth hospitals, the prospects for precise clinical diagnosis, appropriate genetic counseling and proper medical management for auditory disorders has never been at a more exciting crossroad.

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Year:  2002        PMID: 12015283     DOI: 10.1093/hmg/11.10.1229

Source DB:  PubMed          Journal:  Hum Mol Genet        ISSN: 0964-6906            Impact factor:   6.150


  32 in total

1.  Mutational analysis of the mitochondrial 12S rRNA gene in Chinese pediatric subjects with aminoglycoside-induced and non-syndromic hearing loss.

Authors:  Zhiyuan Li; Ronghua Li; Jianfu Chen; Zhisu Liao; Yi Zhu; Yaping Qian; Sudao Xiong; Selena Heman-Ackah; Jianbo Wu; Daniel I Choo; Min-Xin Guan
Journal:  Hum Genet       Date:  2005-04-20       Impact factor: 4.132

2.  Mutation R184Q of connexin 26 in hearing loss patients has a dominant-negative effect on connexin 26 and connexin 30.

Authors:  Ching-Chyuan Su; Shuan-Yow Li; Mao-Chang Su; Wei-Chi Chen; Jiann-Jou Yang
Journal:  Eur J Hum Genet       Date:  2010-05-05       Impact factor: 4.246

3.  High incidence of GJB2 gene mutations among assortatively mating hearing impaired families in Kerala: future implications.

Authors:  Amritkumar Pavithra; Justin Margret Jeffrey; Jayasankaran Chandru; Arabandi Ramesh; C R Srikumari Srisailapathy
Journal:  J Genet       Date:  2014-04       Impact factor: 1.166

4.  Single-Cell Transcriptome Analysis of Developing and Regenerating Spiral Ganglion Neurons.

Authors:  Kelvin Y Kwan
Journal:  Curr Pharmacol Rep       Date:  2016-08-04

5.  A Novel GJB2 compound heterozygous mutation c.257C>G (p.T86R)/c.176del16 (p.G59A fs*18) causes sensorineural hearing loss in a Chinese family.

Authors:  Xi Shi; Yan Zhang; Shiwei Qiu; Wei Zhuang; Na Yuan; Tiantian Sun; Jian Gao; Yuehua Qiao; Ke Liu
Journal:  J Clin Lab Anal       Date:  2018-04-17       Impact factor: 2.352

6.  Maternally inherited aminoglycoside-induced and nonsyndromic deafness is associated with the novel C1494T mutation in the mitochondrial 12S rRNA gene in a large Chinese family.

Authors:  Hui Zhao; Ronghua Li; Qiuju Wang; Qingfeng Yan; Jian-Hong Deng; Dongyi Han; Yidong Bai; Wie-Yen Young; Min-Xin Guan
Journal:  Am J Hum Genet       Date:  2003-12-12       Impact factor: 11.025

7.  Novel nucleotide changes in mutational analysis of mitochondrial 12SrRNA gene in patients with nonsyndromic and aminoglycoside-induced hearing loss.

Authors:  Mohammad Ali Dowlati; Pupak Derakhshandeh-Peykar; Massoud Houshmand; Mohammad Farhadi; Azadeh Shojaei; Masoomeh Fallah; Esmaiil Mohammadi; Ardavan Tajdini; Shima Arastoo; Javad Tavakkoly-Bazzaz
Journal:  Mol Biol Rep       Date:  2012-12-16       Impact factor: 2.316

8.  Identification of Adeno-Associated Viral Vectors That Target Neonatal and Adult Mammalian Inner Ear Cell Subtypes.

Authors:  Yilai Shu; Yong Tao; Zhengmin Wang; Yong Tang; Huawei Li; Pu Dai; Guangping Gao; Zheng-Yi Chen
Journal:  Hum Gene Ther       Date:  2016-06-24       Impact factor: 5.695

9.  Genetics of deafness in India.

Authors:  Manju Ghosh; R Vijaya; Madhulika Kabra
Journal:  Indian J Pediatr       Date:  2004-06       Impact factor: 1.967

10.  Interaction of aminoglycosides with human mitochondrial 12S rRNA carrying the deafness-associated mutation.

Authors:  Yaping Qian; Min-Xin Guan
Journal:  Antimicrob Agents Chemother       Date:  2009-08-17       Impact factor: 5.191

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