Novel KCNQ4 variants in different functional domains confer genotype- and mechanism-based therapeutics in patients with nonsyndromic hearing loss

Loss-of-function variant in the gene encoding the KCNQ4 potassium channel causes autosomal dominant nonsyndromic hearing loss (DFNA2), and no effective pharmacotherapeutics have been developed to reverse channel activity impairment. Phosphatidylinositol 4,5-bisphosphate (PIP(2)), an obligatory phosp...

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Detalles Bibliográficos
Autores principales: Lee, Sang-Yeon, Choi, Hyun Been, Park, Mina, Choi, Il Soon, An, Jieun, Kim, Ami, Kim, Eunku, Kim, Nahyun, Han, Jin Hee, Kim, Min young, Lee, Seung min, Oh, Doo-Yi, Kim, Bong Jik, Yi, Nayoung, Kim, Nayoung, K. D., Lee, Chung, Park, Woong-Yang, Koh, Young Ik, Gee, Heon Yung, Cho, Hyun Sung, Kang, Tong Mook, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8333092/
https://www.ncbi.nlm.nih.gov/pubmed/34316018
http://dx.doi.org/10.1038/s12276-021-00653-4

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8333092/
https://www.ncbi.nlm.nih.gov/pubmed/34316018
http://dx.doi.org/10.1038/s12276-021-00653-4

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