DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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Knockout of Pannexin-1 Induces Hearing Loss.Genetic Aetiology of Nonsyndromic Hearing Loss in Moravia-Silesia Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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2017年の論文

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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P2860

Gap junction mediated intercellular metabolite transfer in the cochlea is compromised in connexin30 null mice

Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes

Analysis of trafficking, stability and function of human connexin 26 gap junction channels with deafness-causing mutations in the fourth transmembrane helix

Keratitis-ichthyosis-deafness syndrome-associated Cx26 mutants produce nonfunctional gap junctions but hyperactive hemichannels when co-expressed with wild type Cx43.

Structure of the connexin 26 gap junction channel at 3.5 A resolution

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness

Connexin-26 mutations in sporadic and inherited sensorineural deafness

Mutations in GJB6 cause nonsyndromic autosomal dominant deafness at DFNA3 locus

Transgenic expression of a dominant-negative connexin26 causes degeneration of the organ of Corti and non-syndromic deafness

A deletion mutation in GJB6 cooperating with a GJB2 mutation in trans in non-syndromic deafness: A novel founder mutation in Ashkenazi Jews

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scholarly article

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10.3389/FNMOL.2017.00428

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Francisco J del Castillo

Ignacio del Castillo

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2017-12-22T00:00:00Z

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29311818

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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DFNB1 Non-syndromic Hearing Impairment: Diversity of Mutations and Associated Phenotypes.

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