Literature DB >> 15520414

A gene responsible for autosomal dominant auditory neuropathy (AUNA1) maps to 13q14-21.

T B Kim, B Isaacson, T A Sivakumaran, A Starr, B J B Keats, M M Lesperance.   

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Year:  2004        PMID： 15520414      PMCID： PMC1735621          DOI： 10.1136/jmg.2004.020628

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  21 in total

1.  AUNX1, a novel locus responsible for X linked recessive auditory and peripheral neuropathy, maps to Xq23-27.3.

Authors:  Q J Wang; Q Z Li; S Q Rao; K Lee; X S Huang; W Y Yang; S Q Zhai; W W Guo; Y F Guo; N Yu; Y L Zhao; H Yuan; J Guan; S M Leal; D Y Han; Y Shen
Journal:  J Med Genet       Date:  2006-07       Impact factor: 6.318

2.  Increased activity of Diaphanous homolog 3 (DIAPH3)/diaphanous causes hearing defects in humans with auditory neuropathy and in Drosophila.

Authors:  Cynthia J Schoen; Sarah B Emery; Marc C Thorne; Hima R Ammana; Elzbieta Sliwerska; Jameson Arnett; Michael Hortsch; Frances Hannan; Margit Burmeister; Marci M Lesperance
Journal:  Proc Natl Acad Sci U S A       Date:  2010-07-12       Impact factor: 11.205

3.  Multiple quantitative trait loci modify cochlear hair cell degeneration in the Beethoven (Tmc1Bth) mouse model of progressive hearing loss DFNA36.

Authors:  Yoshihiro Noguchi; Kiyoto Kurima; Tomoko Makishima; Martin Hrabé de Angelis; Helmut Fuchs; Gregory Frolenkov; Ken Kitamura; Andrew J Griffith
Journal:  Genetics       Date:  2006-04-28       Impact factor: 4.562

Review 4.  Auditory neuropathy--neural and synaptic mechanisms.

Authors:  Tobias Moser; Arnold Starr
Journal:  Nat Rev Neurol       Date:  2016-02-19       Impact factor: 42.937

Review 5.  Nerve maintenance and regeneration in the damaged cochlea.

Authors:  Seiji B Shibata; Cameron L Budenz; Sara A Bowling; Bryan E Pfingst; Yehoash Raphael
Journal:  Hear Res       Date:  2011-05-10       Impact factor: 3.208

6.  Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.

Authors:  Jérôme Ruel; Sarah Emery; Régis Nouvian; Tiphaine Bersot; Bénédicte Amilhon; Jana M Van Rybroek; Guy Rebillard; Marc Lenoir; Michel Eybalin; Benjamin Delprat; Theru A Sivakumaran; Bruno Giros; Salah El Mestikawy; Tobias Moser; Richard J H Smith; Marci M Lesperance; Jean-Luc Puel
Journal:  Am J Hum Genet       Date:  2008-08       Impact factor: 11.025

7.  Rapid cell-cycle reentry and cell death after acute inactivation of the retinoblastoma gene product in postnatal cochlear hair cells.

Authors:  Thomas Weber; Mary K Corbett; Lionel M L Chow; Marcus B Valentine; Suzanne J Baker; Jian Zuo
Journal:  Proc Natl Acad Sci U S A       Date:  2008-01-04       Impact factor: 11.205

8.  Neurological associations in auditory neuropathy spectrum disorder: Results from a tertiary hospital in South India.

Authors:  Anjali Lepcha; Reni K Chandran; Mathew Alexander; Ann Mary Agustine; K Thenmozhi; Achamma Balraj
Journal:  Ann Indian Acad Neurol       Date:  2015 Apr-Jun       Impact factor: 1.383

9.  ACEMg Diet Supplement Modifies Progression of Hereditary Deafness.

Authors:  Kari L Green; Donald L Swiderski; Diane M Prieskorn; Susan J DeRemer; Lisa A Beyer; Josef M Miller; Glenn E Green; Yehoash Raphael
Journal:  Sci Rep       Date:  2016-03-11       Impact factor: 4.379

10.  Diaphanous homolog 3 (Diap3) overexpression causes progressive hearing loss and inner hair cell defects in a transgenic mouse model of human deafness.

Authors:  Cynthia J Schoen; Margit Burmeister; Marci M Lesperance
Journal:  PLoS One       Date:  2013-02-18       Impact factor: 3.240
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