A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

A murine model for the del(GJB6-D13S1830) deletion recapitulating the phenotype of human DFNB1 hearing impairment: generation and functional and histopathological study

Abstract Inherited hearing impairment is a remarkably heterogeneous monogenic condition, involving hundreds of genes, most of them with very small (< 1%) epidemiological contributions. The exception is GJB2, the gene encoding connexin-26 and underlying DFNB1, which is the most frequent type of au...

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Bibliographic Details
Main Authors: María Domínguez-Ruiz, Silvia Murillo-Cuesta, Julio Contreras, Marta Cantero, Gema Garrido, Belén Martín-Bernardo, Elena Gómez-Rosas, Almudena Fernández, Francisco J. del Castillo, Lluís Montoliu, Isabel Varela-Nieto, Ignacio del Castillo
Format: Article
Language:English
Published: BMC 2024-04-01
Series:BMC Genomics
Subjects:
Inherited hearing impairment
DFNB1
GJB2
Connnexin-26
Murine models
Online Access:https://doi.org/10.1186/s12864-024-10289-z

Internet

https://doi.org/10.1186/s12864-024-10289-z

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