Cargando…
The pathogenesis of common Gjb2 mutations associated with human hereditary deafness in mice
Mutations in GJB2 (Gap junction protein beta 2) are the most common genetic cause of non-syndromic hereditary deafness in humans, especially the 35delG and 235delC mutations. Owing to the homozygous lethality of Gjb2 mutations in mice, there are currently no perfect mouse models carrying Gjb2 mutati...
Autores principales: | Li, Qing, Cui, Chong, Liao, Rongyu, Yin, Xidi, Wang, Daqi, Cheng, Yanbo, Huang, Bowei, Wang, Liqin, Yan, Meng, Zhou, Jinan, Zhao, Jingjing, Tang, Wei, Wang, Yingyi, Wang, Xiaohan, Lv, Jun, Li, Jinsong, Li, Huawei, Shu, Yilai |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Springer International Publishing
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10182940/ https://www.ncbi.nlm.nih.gov/pubmed/37178259 http://dx.doi.org/10.1007/s00018-023-04794-9 |
Ejemplares similares
-
Local Macrophage-Related Immune Response Is Involved in Cochlear Epithelial Damage in Distinct Gjb2-Related Hereditary Deafness Models
por: Xu, Kai, et al.
Publicado: (2021) -
GJB2 and GJB6 Mutations in Hereditary Recessive Non-Syndromic Hearing Impairment in Cameroon
por: Tingang Wonkam, Edmond, et al.
Publicado: (2019) -
A screening analysis of the GJB2 c.176 del 16 mutation responsible for hereditary deafness in a Chinese family
por: Jiang, Hao, et al.
Publicado: (2016) -
Comparison of Predictive In Silico Tools on Missense Variants in GJB2, GJB6, and GJB3 Genes Associated with Autosomal Recessive Deafness 1A (DFNB1A)
por: Pshennikova, Vera G., et al.
Publicado: (2019) -
The Cause of Hereditary Hearing Loss in GJB2 Heterozygotes—A Comprehensive Study of the GJB2/DFNB1 Region
por: Safka Brozkova, Dana, et al.
Publicado: (2021)