Literature DB >> 12525542

Non-syndromic recessive auditory neuropathy is the result of mutations in the otoferlin (OTOF) gene.

R Varga, P M Kelley, B J Keats, A Starr, S M Leal, E Cohn, W J Kimberling.   

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Year:  2003        PMID： 12525542      PMCID： PMC1735255          DOI： 10.1136/jmg.40.1.45

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


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  69 in total

Review 1.  Plasticity in the developing auditory cortex: evidence from children with sensorineural hearing loss and auditory neuropathy spectrum disorder.

Authors:  Garrett Cardon; Julia Campbell; Anu Sharma
Journal:  J Am Acad Audiol       Date:  2012-06       Impact factor: 1.664

2.  Conditional deletion of pejvakin in adult outer hair cells causes progressive hearing loss in mice.

Authors:  Suzan L Harris; Marcin Kazmierczak; Tina Pangršič; Prahar Shah; Nadiya Chuchvara; Alonso Barrantes-Freer; Tobias Moser; Martin Schwander
Journal:  Neuroscience       Date:  2017-01-09       Impact factor: 3.590

Review 3.  [Diagnosis and therapy of auditory synaptopathy/neuropathy].

Authors:  T Moser; N Strenzke; A Meyer; A Lesinski-Schiedat; T Lenarz; D Beutner; A Foerst; R Lang-Roth; H von Wedel; M Walger; M Gross; A Keilmann; A Limberger; T Steffens; J Strutz
Journal:  HNO       Date:  2006-11       Impact factor: 1.284

4.  Engraftment and differentiation of embryonic stem cell-derived neural progenitor cells in the cochlear nerve trunk: growth of processes into the organ of Corti.

Authors:  C Eduardo Corrales; Luying Pan; Huawei Li; M Charles Liberman; Stefan Heller; Albert S B Edge
Journal:  J Neurobiol       Date:  2006-11

Review 5.  The potential role of endogenous stem cells in regeneration of the inner ear.

Authors:  Rodrigo Martinez-Monedero; Kazuo Oshima; Stefan Heller; Albert S B Edge
Journal:  Hear Res       Date:  2007-01-20       Impact factor: 3.208

6.  OTOF mutations revealed by genetic analysis of hearing loss families including a potential temperature sensitive auditory neuropathy allele.

Authors:  R Varga; M R Avenarius; P M Kelley; B J Keats; C I Berlin; L J Hood; T G Morlet; S M Brashears; A Starr; E S Cohn; R J H Smith; W J Kimberling
Journal:  J Med Genet       Date:  2005-12-21       Impact factor: 6.318

7.  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

8.  SMAD4 Defect Causes Auditory Neuropathy Via Specialized Disruption of Cochlear Ribbon Synapses in Mice.

Authors:  Ke Liu; Fei Ji; Guan Yang; Zhaohui Hou; Jianhe Sun; Xiaoyu Wang; Weiwei Guo; Wei Sun; Weiyan Yang; Xiao Yang; Shiming Yang
Journal:  Mol Neurobiol       Date:  2015-10-21       Impact factor: 5.590

9.  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

10.  Identification of the hair cell soma-1 antigen, HCS-1, as otoferlin.

Authors:  Richard J Goodyear; P Kevin Legan; Jeffrey R Christiansen; Bei Xia; Julia Korchagina; Jonathan E Gale; Mark E Warchol; Jeffrey T Corwin; Guy P Richardson
Journal:  J Assoc Res Otolaryngol       Date:  2010-08-31
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