Article
Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
Auris, nasus, larynx - 1 Oct 2014
Nakanishi Hiroshi, Kurima Kiyoto, Kawashima Yoshiyuki, Griffith Andrew J
Abstract excerpt
OBJECTIVE: Mutations of transmembrane channel-like 1 gene (TMC1) can cause dominant (DFNA36) or recessive (DFNB7/B11) deafness. In this article, we describe the characteristics of DFNA36 and DFNB7/B11 deafness, the features of the Tmc1 mutant mouse strains, and recent advances in our understanding of TMC1 function. METHODS: Publications related to TMC1, DFNA36, or DFNB7/B11 were identified through PubMed....
Topics
- Animals
- Deafness
- Disease Models, Animal
- Hair Cells, Auditory
- Hearing Loss, Sensorineural
- Humans
- Membrane Proteins
- Mice
- Mutation
