Functional Studies of Deafness-Associated Pendrin and Prestin Variants
Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for normal hearing. Dysfunction of these proteins results in hearing loss in humans, and numerous deafness-associated pendrin and prestin variants have been identified in patients. However, the pathogenic impacts of...
Main Authors: | Satoe Takahashi, Takashi Kojima, Koichiro Wasano, Kazuaki Homma |
---|---|
Format: | Article |
Language: | English |
Published: |
MDPI AG
2024-02-01
|
Series: | International Journal of Molecular Sciences |
Subjects: | |
Online Access: | https://www.mdpi.com/1422-0067/25/5/2759 |
Similar Items
-
Molecular Features of SLC26A4 Common Variant p.L117F
by: Arnoldas Matulevičius, et al.
Published: (2022-09-01) -
Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects
by: Renata Watanabe Nonose, et al.
Published: (2018-05-01) -
Evaluation of inner ear damage by mastoid drilling with measurement of serum prestin (SLC26A5) levels
by: Ayca Baskadem Yilmazer, et al.
Published: (2024-03-01) -
Mutation analysis of the SLC26A4, FOXI1 and KCNJ10 genes in individuals with congenital hearing loss
by: Lynn M. Pique, et al.
Published: (2014-05-01) -
Functional interplay between CFTR and pendrin: physiological and pathophysiological relevance
by: Grazia Tamma, et al.
Published: (2022-02-01)