Literature DB >> 10471490

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.

A Grifa, C A Wagner, L D'Ambrosio, S Melchionda, F Bernardi, N Lopez-Bigas, R Rabionet, M Arbones, M D Monica, X Estivill, L Zelante, F Lang, P Gasparini.   

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Year:  1999        PMID： 10471490     DOI： 10.1038/12612

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


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  99 in total

1.  Purinergic control of intercellular communication between Hensen's cells of the guinea-pig cochlea.

Authors:  L Lagostena; J F Ashmore; B Kachar; F Mammano
Journal:  J Physiol       Date:  2001-03-15       Impact factor: 5.182

Review 2.  Science, medicine, and the future: New interventions in hearing impairment.

Authors:  K P Steel
Journal:  BMJ       Date:  2000-03-04

Review 3.  Connexin mutations in skin disease and hearing loss.

Authors:  D P Kelsell; W L Di; M J Houseman
Journal:  Am J Hum Genet       Date:  2001-01-25       Impact factor: 11.025

4.  Early developmental expression of connexin26 in the cochlea contributes to its dominate functional role in the cochlear gap junctions.

Authors:  Yan Qu; Wenxue Tang; Binfei Zhou; Shoeb Ahmad; Qing Chang; Xiaoming Li; Xi Lin
Journal:  Biochem Biophys Res Commun       Date:  2011-11-28       Impact factor: 3.575

Review 5.  Application of physiological genomics to the study of hearing disorders.

Authors:  Stefan Heller
Journal:  J Physiol       Date:  2002-08-15       Impact factor: 5.182

Review 6.  Multiple hits during early embryonic development: digenic diseases and holoprosencephaly.

Authors:  Jeffrey E Ming; Maximilian Muenke
Journal:  Am J Hum Genet       Date:  2002-10-22       Impact factor: 11.025

Review 7.  Structure of the gap junction channel and its implications for its biological functions.

Authors:  Shoji Maeda; Tomitake Tsukihara
Journal:  Cell Mol Life Sci       Date:  2010-10-21       Impact factor: 9.261

8.  Connexin 30 sets synaptic strength by controlling astroglial synapse invasion.

Authors:  Ulrike Pannasch; Dominik Freche; Glenn Dallérac; Grégory Ghézali; Carole Escartin; Pascal Ezan; Martine Cohen-Salmon; Karim Benchenane; Veronica Abudara; Amandine Dufour; Joachim H R Lübke; Nicole Déglon; Graham Knott; David Holcman; Nathalie Rouach
Journal:  Nat Neurosci       Date:  2014-03-02       Impact factor: 24.884

Review 9.  Diverse deafness mechanisms of connexin mutations revealed by studies using in vitro approaches and mouse models.

Authors:  Emilie Hoang Dinh; Shoeb Ahmad; Qing Chang; Wenxue Tang; Benjamin Stong; Xi Lin
Journal:  Brain Res       Date:  2009-02-20       Impact factor: 3.252

10.  An intact connexin N-terminus is required for function but not gap junction formation.

Authors:  John W Kyle; Peter J Minogue; Bettina C Thomas; Denise A Lopez Domowicz; Viviana M Berthoud; Dorothy A Hanck; Eric C Beyer
Journal:  J Cell Sci       Date:  2008-07-29       Impact factor: 5.285
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