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Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus.
Grifa A,
Wagner CA,
D'Ambrosio L,
Melchionda S,
Bernardi F,
Lopez-Bigas N,
Rabionet R,
Arbones M,
Monica MD,
Estivill X,
Zelante L,
Lang F,
Gasparini P.
PMID: 10471490 [PubMed - indexed for MEDLINE]
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Cited by 19 PubMed Central articles
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Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice.
Chang Q, Tang W, Ahmad S, Zhou B, Lin X.
PLoS One. 2008; 3(12):e4088. Epub 2008 Dec 31.
[PLoS One. 2008]
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ReviewGap-junction channels dysfunction in deafness and hearing loss.
Martínez AD, Acuña R, Figueroa V, Maripillan J, Nicholson B.
Antioxid Redox Signal. 2009 Feb; 11(2):309-22.
[Antioxid Redox Signal. 2009]
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Connexin30 deficiency causes instrastrial fluid-blood barrier disruption within the cochlear stria vascularis.
Cohen-Salmon M, Regnault B, Cayet N, Caille D, Demuth K, Hardelin JP, Janel N, Meda P, Petit C.
Proc Natl Acad Sci U S A. 2007 Apr 10; 104(15):6229-34. Epub 2007 Mar 30.
[Proc Natl Acad Sci U S A. 2007]
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