Cargando…
Overlooked KCNQ4 variants augment the risk of hearing loss
Pathogenic variants of KCNQ4 cause symmetrical, late-onset, progressive, high-frequency-affected hearing loss, which eventually involves all frequencies with age. To understand the contribution of KCNQ4 variants to hearing loss, we analyzed whole-exome and genome sequencing data from patients with h...
Autores principales: | Oh, Kyung Seok, Roh, Jae Won, Joo, Sun Young, Ryu, Kunhi, Kim, Jung Ah, Kim, Se Jin, Jang, Seung Hyun, Koh, Young Ik, Kim, Da Hye, Kim, Hye-Youn, Choi, Murim, Jung, Jinsei, Namkung, Wan, Nam, Joo Hyun, Choi, Jae Young, Gee, Heon Yung |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2023
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10167218/ https://www.ncbi.nlm.nih.gov/pubmed/37009795 http://dx.doi.org/10.1038/s12276-023-00976-4 |
Ejemplares similares
-
Rare KCNQ4 variants found in public databases underlie impaired channel activity that may contribute to hearing impairment
por: Jung, Jinsei, et al.
Publicado: (2019) -
Whole-exome sequencing identifies two novel mutations in KCNQ4 in individuals with nonsyndromic hearing loss
por: Jung, Jinsei, et al.
Publicado: (2018) -
Activation of KCNQ4 as a Therapeutic Strategy to Treat Hearing Loss
por: Rim, John Hoon, et al.
Publicado: (2021) -
OSBPL2 mutations impair autophagy and lead to hearing loss, potentially remedied by rapamycin
por: Koh, Young Ik, et al.
Publicado: (2022) -
In vivo outer hair cell gene editing ameliorates progressive hearing loss in dominant-negative Kcnq4 murine model
por: Noh, Byunghwa, et al.
Publicado: (2022)