Literature DB >> 22962211

Genomic advances for gene discovery in hereditary hearing loss.

Karen B Avraham1, Moien Kanaan.   

Abstract

High-throughput sequencing is changing the face of genetic diagnosis and counseling. While in the past, it would take on average 1 to 5 years to identify a mutation leading to deafness, today, the genetic basis for deafness can be determined within months in a child or adult with inherited hearing loss. Obstacles and challenges still remain, but the field is changing at a dramatic rate, making gene discovery a much easier and more efficient task than in the past.

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Year:  2012        PMID: 22962211     DOI: 10.1515/jbcpp-2012-0033

Source DB:  PubMed          Journal:  J Basic Clin Physiol Pharmacol        ISSN: 0792-6855


  8 in total

1.  MYO3A Causes Human Dominant Deafness and Interacts with Protocadherin 15-CD2 Isoform.

Authors:  M'hamed Grati; Denise Yan; Manmeet H Raval; Tom Walsh; Qi Ma; Imen Chakchouk; Abhiraami Kannan-Sundhari; Rahul Mittal; Saber Masmoudi; Susan H Blanton; Mustafa Tekin; Mary-Claire King; Christopher M Yengo; Xue Zhong Liu
Journal:  Hum Mutat       Date:  2016-02-16       Impact factor: 4.878

2.  Modified protein expression in the tectorial membrane of the cochlea reveals roles for the striated sheet matrix.

Authors:  Gareth P Jones; Stephen J Elliott; Ian J Russell; Andrei N Lukashkin
Journal:  Biophys J       Date:  2015-01-06       Impact factor: 4.033

3.  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

4.  Virally mediated Kcnq1 gene replacement therapy in the immature scala media restores hearing in a mouse model of human Jervell and Lange-Nielsen deafness syndrome.

Authors:  Qing Chang; Jianjun Wang; Qi Li; Yeunjung Kim; Binfei Zhou; Yunfeng Wang; Huawei Li; Xi Lin
Journal:  EMBO Mol Med       Date:  2015-08       Impact factor: 12.137

5.  A Novel C-Terminal CIB2 (Calcium and Integrin Binding Protein 2) Mutation Associated with Non-Syndromic Hearing Loss in a Hispanic Family.

Authors:  Kunjan Patel; Arnaud P Giese; J M Grossheim; Rashmi S Hegde; Rashima S Hegde; Maria Delio; Joy Samanich; Saima Riazuddin; Gregory I Frolenkov; Jinlu Cai; Zubair M Ahmed; Bernice E Morrow
Journal:  PLoS One       Date:  2015-10-01       Impact factor: 3.240

Review 6.  Hearing impairment and language delay in infants: Diagnostics and genetics.

Authors:  Ruth Lang-Roth
Journal:  GMS Curr Top Otorhinolaryngol Head Neck Surg       Date:  2014-12-01

Review 7.  Cochlear Gene Therapy for Sensorineural Hearing Loss: Current Status and Major Remaining Hurdles for Translational Success.

Authors:  Wenjuan Zhang; Sun Myoung Kim; Wenwen Wang; Cuiyuan Cai; Yong Feng; Weijia Kong; Xi Lin
Journal:  Front Mol Neurosci       Date:  2018-06-26       Impact factor: 5.639

8.  Delineation of Homozygous Variants Associated with Prelingual Sensorineural Hearing Loss in Pakistani Families.

Authors:  Muhammad Noman; Rafaqat Ishaq; Shazia A Bukhari; Zubair M Ahmed; Saima Riazuddin
Journal:  Genes (Basel)       Date:  2019-12-10       Impact factor: 4.096

  8 in total

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