A nonsense TMEM43 variant leads to disruption of connexin-linked function and autosomal dominant auditory neuropathy spectrum disorder

Genes that are primarily expressed in cochlear glia-like supporting cells (GLSs) have not been clearly associated with progressive deafness. Herein, we present a deafness locus mapped to chromosome 3p25.1 and an auditory neuropathy spectrum disorder (ANSD) gene, TMEM43, mainly expressed in GLSs. We...

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Detalles Bibliográficos
Autores principales: Jang, Minwoo Wendy, Oh, Doo-Yi, Yi, Eunyoung, Liu, Xuezhong, Ling, Jie, Kim, Nayoung, Sharma, Kushal, Kim, Tai Young, Lee, Seungmin, Kim, Ah-Reum, Kim, Min Young, Kim, Min-A, Lee, Mingyu, Han, Jin-Hee, Han, Jae Joon, Park, Hye-Rim, Kim, Bong Jik, Lee, Sang-Yeon, Woo, Dong Ho, Oh, Jayoung, Oh, Soo-Jin, Du, Tingting, Koo, Ja-Won, Oh, Seung-Ha, Shin, Hyun-Woo, Seong, Moon-Woo, Lee, Kyu-Yup, Kim, Un-Kyung, Shin, Jung Bum, Sang, Shushan, Cai, Xinzhang, Mei, Lingyun, He, Chufeng, Blanton, Susan H., Chen, Zheng-Yi, Chen, Hongsheng, Liu, Xianlin, Nourbakhsh, Aida, Huang, Zaohua, Kang, Kwon-Woo, Park, Woong-Yang, Feng, Yong, Lee, C. Justin, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2021
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8179140/
https://www.ncbi.nlm.nih.gov/pubmed/34050020
http://dx.doi.org/10.1073/pnas.2019681118

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